Incidental Mutation 'R1856:Ankhd1'
| ID |
206186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankhd1
|
| Ensembl Gene |
ENSMUSG00000024483 |
| Gene Name |
ankyrin repeat and KH domain containing 1 |
| Synonyms |
A530027J04Rik, 9130019P20Rik, 4933432B13Rik, 1110004O12Rik |
| MMRRC Submission |
039880-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1856 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
36693656-36791961 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 36777580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 1588
(A1588T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006205]
[ENSMUST00000142977]
[ENSMUST00000155329]
|
| AlphaFold |
E9PUR0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006205
AA Change: A1588T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000006205
Gene: ENSMUSG00000024483
AA Change: A1588T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
109 |
N/A |
INTRINSIC |
|
ANK
|
207 |
236 |
2.11e2 |
SMART |
|
ANK
|
240 |
269 |
3.31e-1 |
SMART |
|
ANK
|
274 |
303 |
5.24e-4 |
SMART |
|
ANK
|
307 |
336 |
7.64e-6 |
SMART |
|
ANK
|
340 |
369 |
2.7e-6 |
SMART |
|
ANK
|
374 |
403 |
3.23e-4 |
SMART |
|
ANK
|
407 |
436 |
1.61e-4 |
SMART |
|
ANK
|
440 |
469 |
5.16e-3 |
SMART |
|
ANK
|
473 |
502 |
4.16e-7 |
SMART |
|
ANK
|
507 |
536 |
1.68e-2 |
SMART |
|
ANK
|
537 |
566 |
7.02e-5 |
SMART |
|
ANK
|
570 |
599 |
7.95e-4 |
SMART |
|
ANK
|
603 |
632 |
4.56e-4 |
SMART |
|
ANK
|
637 |
666 |
9.64e-3 |
SMART |
|
ANK
|
670 |
699 |
6.71e-2 |
SMART |
|
coiled coil region
|
815 |
855 |
N/A |
INTRINSIC |
|
ANK
|
1057 |
1086 |
2.07e-2 |
SMART |
|
ANK
|
1090 |
1119 |
2.48e-5 |
SMART |
|
ANK
|
1124 |
1153 |
3.85e-2 |
SMART |
|
ANK
|
1157 |
1186 |
1.61e-4 |
SMART |
|
ANK
|
1192 |
1221 |
1.24e-5 |
SMART |
|
ANK
|
1226 |
1255 |
1.59e-3 |
SMART |
|
ANK
|
1259 |
1288 |
3.91e-3 |
SMART |
|
ANK
|
1294 |
1323 |
5.93e-3 |
SMART |
|
ANK
|
1327 |
1356 |
9.41e-6 |
SMART |
|
ANK
|
1360 |
1393 |
3.8e-1 |
SMART |
|
coiled coil region
|
1422 |
1486 |
N/A |
INTRINSIC |
|
low complexity region
|
1509 |
1526 |
N/A |
INTRINSIC |
|
low complexity region
|
1538 |
1557 |
N/A |
INTRINSIC |
|
low complexity region
|
1585 |
1604 |
N/A |
INTRINSIC |
|
KH
|
1693 |
1763 |
5.04e-13 |
SMART |
|
low complexity region
|
1968 |
2001 |
N/A |
INTRINSIC |
|
low complexity region
|
2041 |
2057 |
N/A |
INTRINSIC |
|
low complexity region
|
2064 |
2081 |
N/A |
INTRINSIC |
|
low complexity region
|
2334 |
2346 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000037072
AA Change: A77T
|
| SMART Domains |
Protein: ENSMUSP00000040300
Gene: ENSMUSG00000024483
AA Change: A77T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
94 |
N/A |
INTRINSIC |
|
KH
|
183 |
253 |
5.04e-13 |
SMART |
|
low complexity region
|
458 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
554 |
571 |
N/A |
INTRINSIC |
|
low complexity region
|
824 |
836 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130035
|
| SMART Domains |
Protein: ENSMUSP00000117110
Gene: ENSMUSG00000024483
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
2 |
26 |
5.35e2 |
SMART |
|
ANK
|
30 |
59 |
9.41e-6 |
SMART |
|
ANK
|
63 |
96 |
3.8e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140061
|
| SMART Domains |
Protein: ENSMUSP00000121811
Gene: ENSMUSG00000024483
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
77 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
375 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142977
AA Change: A1588T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000120290
Gene: ENSMUSG00000024483
AA Change: A1588T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
109 |
N/A |
INTRINSIC |
|
ANK
|
207 |
236 |
2.11e2 |
SMART |
|
ANK
|
240 |
269 |
3.31e-1 |
SMART |
|
ANK
|
274 |
303 |
5.24e-4 |
SMART |
|
ANK
|
307 |
336 |
7.64e-6 |
SMART |
|
ANK
|
340 |
369 |
2.7e-6 |
SMART |
|
ANK
|
374 |
403 |
3.23e-4 |
SMART |
|
ANK
|
407 |
436 |
1.61e-4 |
SMART |
|
ANK
|
440 |
469 |
5.16e-3 |
SMART |
|
ANK
|
473 |
502 |
4.16e-7 |
SMART |
|
ANK
|
507 |
536 |
1.68e-2 |
SMART |
|
ANK
|
537 |
566 |
7.02e-5 |
SMART |
|
ANK
|
570 |
599 |
7.95e-4 |
SMART |
|
ANK
|
603 |
632 |
4.56e-4 |
SMART |
|
ANK
|
637 |
666 |
9.64e-3 |
SMART |
|
ANK
|
670 |
699 |
6.71e-2 |
SMART |
|
coiled coil region
|
815 |
855 |
N/A |
INTRINSIC |
|
ANK
|
1057 |
1086 |
2.07e-2 |
SMART |
|
ANK
|
1090 |
1119 |
2.48e-5 |
SMART |
|
ANK
|
1124 |
1153 |
3.85e-2 |
SMART |
|
ANK
|
1157 |
1186 |
1.61e-4 |
SMART |
|
ANK
|
1192 |
1221 |
1.24e-5 |
SMART |
|
ANK
|
1226 |
1255 |
1.59e-3 |
SMART |
|
ANK
|
1259 |
1288 |
3.91e-3 |
SMART |
|
ANK
|
1294 |
1323 |
5.93e-3 |
SMART |
|
ANK
|
1327 |
1356 |
9.41e-6 |
SMART |
|
ANK
|
1360 |
1393 |
3.8e-1 |
SMART |
|
coiled coil region
|
1422 |
1486 |
N/A |
INTRINSIC |
|
low complexity region
|
1509 |
1526 |
N/A |
INTRINSIC |
|
low complexity region
|
1538 |
1557 |
N/A |
INTRINSIC |
|
low complexity region
|
1585 |
1604 |
N/A |
INTRINSIC |
|
KH
|
1693 |
1763 |
5.04e-13 |
SMART |
|
low complexity region
|
1968 |
2001 |
N/A |
INTRINSIC |
|
low complexity region
|
2041 |
2057 |
N/A |
INTRINSIC |
|
low complexity region
|
2064 |
2081 |
N/A |
INTRINSIC |
|
low complexity region
|
2334 |
2346 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152940
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153612
|
| SMART Domains |
Protein: ENSMUSP00000116462
Gene: ENSMUSG00000024483
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
10 |
39 |
9.41e-6 |
SMART |
|
ANK
|
43 |
76 |
3.8e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155329
AA Change: A1588T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123270
Gene: ENSMUSG00000024483
AA Change: A1588T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
109 |
N/A |
INTRINSIC |
|
ANK
|
207 |
236 |
2.11e2 |
SMART |
|
ANK
|
240 |
269 |
3.31e-1 |
SMART |
|
ANK
|
274 |
303 |
5.24e-4 |
SMART |
|
ANK
|
307 |
336 |
7.64e-6 |
SMART |
|
ANK
|
340 |
369 |
2.7e-6 |
SMART |
|
ANK
|
374 |
403 |
3.23e-4 |
SMART |
|
ANK
|
407 |
436 |
1.61e-4 |
SMART |
|
ANK
|
440 |
469 |
5.16e-3 |
SMART |
|
ANK
|
473 |
502 |
4.16e-7 |
SMART |
|
ANK
|
507 |
536 |
1.68e-2 |
SMART |
|
ANK
|
537 |
566 |
7.02e-5 |
SMART |
|
ANK
|
570 |
599 |
7.95e-4 |
SMART |
|
ANK
|
603 |
632 |
4.56e-4 |
SMART |
|
ANK
|
637 |
666 |
9.64e-3 |
SMART |
|
ANK
|
670 |
699 |
6.71e-2 |
SMART |
|
coiled coil region
|
815 |
855 |
N/A |
INTRINSIC |
|
ANK
|
1057 |
1086 |
2.07e-2 |
SMART |
|
ANK
|
1090 |
1119 |
2.48e-5 |
SMART |
|
ANK
|
1124 |
1153 |
3.85e-2 |
SMART |
|
ANK
|
1157 |
1186 |
1.61e-4 |
SMART |
|
ANK
|
1192 |
1221 |
1.24e-5 |
SMART |
|
ANK
|
1226 |
1255 |
1.59e-3 |
SMART |
|
ANK
|
1259 |
1288 |
3.91e-3 |
SMART |
|
ANK
|
1294 |
1323 |
5.93e-3 |
SMART |
|
ANK
|
1327 |
1356 |
9.41e-6 |
SMART |
|
ANK
|
1360 |
1393 |
3.8e-1 |
SMART |
|
coiled coil region
|
1422 |
1486 |
N/A |
INTRINSIC |
|
low complexity region
|
1509 |
1526 |
N/A |
INTRINSIC |
|
low complexity region
|
1538 |
1557 |
N/A |
INTRINSIC |
|
low complexity region
|
1585 |
1604 |
N/A |
INTRINSIC |
|
KH
|
1693 |
1763 |
5.04e-13 |
SMART |
|
low complexity region
|
1968 |
2001 |
N/A |
INTRINSIC |
|
low complexity region
|
2041 |
2057 |
N/A |
INTRINSIC |
|
low complexity region
|
2064 |
2081 |
N/A |
INTRINSIC |
|
low complexity region
|
2342 |
2362 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 113 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
T |
A |
4: 144,504,453 (GRCm39) |
M233L |
probably benign |
Het |
| Abca14 |
T |
G |
7: 119,877,404 (GRCm39) |
F1017L |
probably damaging |
Het |
| Abcb11 |
A |
C |
2: 69,076,267 (GRCm39) |
V1147G |
probably damaging |
Het |
| Abcc10 |
T |
A |
17: 46,617,529 (GRCm39) |
S1128C |
probably damaging |
Het |
| Adam6a |
G |
A |
12: 113,508,923 (GRCm39) |
C432Y |
probably damaging |
Het |
| Adamdec1 |
C |
T |
14: 68,808,397 (GRCm39) |
V318M |
probably damaging |
Het |
| Ahnak |
C |
A |
19: 8,979,412 (GRCm39) |
S232Y |
possibly damaging |
Het |
| Amt |
A |
C |
9: 108,174,361 (GRCm39) |
H42P |
probably damaging |
Het |
| Anapc1 |
A |
T |
2: 128,501,708 (GRCm39) |
L778Q |
probably damaging |
Het |
| Anln |
A |
T |
9: 22,264,627 (GRCm39) |
L881Q |
probably damaging |
Het |
| Appl1 |
A |
G |
14: 26,649,706 (GRCm39) |
S607P |
probably damaging |
Het |
| Arg2 |
G |
T |
12: 79,194,436 (GRCm39) |
V87L |
probably benign |
Het |
| Atp13a2 |
C |
T |
4: 140,731,323 (GRCm39) |
P869L |
probably benign |
Het |
| Atxn7l1 |
T |
A |
12: 33,408,769 (GRCm39) |
D310E |
probably damaging |
Het |
| Cd6 |
A |
T |
19: 10,775,966 (GRCm39) |
D164E |
probably damaging |
Het |
| Cdan1 |
C |
A |
2: 120,555,417 (GRCm39) |
V775L |
probably benign |
Het |
| Cep164 |
A |
T |
9: 45,687,056 (GRCm39) |
|
probably null |
Het |
| Cep41 |
A |
G |
6: 30,661,005 (GRCm39) |
S61P |
probably damaging |
Het |
| Clcn7 |
C |
A |
17: 25,379,445 (GRCm39) |
D764E |
probably damaging |
Het |
| Cog2 |
G |
A |
8: 125,278,142 (GRCm39) |
G703S |
possibly damaging |
Het |
| Cramp1 |
T |
C |
17: 25,187,952 (GRCm39) |
D1214G |
probably damaging |
Het |
| Cst7 |
G |
T |
2: 150,419,628 (GRCm39) |
C98F |
probably damaging |
Het |
| Ctc1 |
T |
A |
11: 68,925,484 (GRCm39) |
L1007Q |
probably damaging |
Het |
| Cyb5r4 |
G |
A |
9: 86,904,262 (GRCm39) |
A11T |
possibly damaging |
Het |
| Dcaf8 |
A |
G |
1: 172,003,120 (GRCm39) |
D306G |
probably damaging |
Het |
| Defb38 |
T |
A |
8: 19,073,592 (GRCm39) |
K27I |
probably benign |
Het |
| Disp3 |
T |
C |
4: 148,356,089 (GRCm39) |
E257G |
probably damaging |
Het |
| Dnajc6 |
T |
C |
4: 101,456,185 (GRCm39) |
S58P |
probably damaging |
Het |
| Dock10 |
A |
T |
1: 80,584,285 (GRCm39) |
D140E |
possibly damaging |
Het |
| Dop1a |
T |
C |
9: 86,374,057 (GRCm39) |
V172A |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Eci3 |
C |
T |
13: 35,137,011 (GRCm39) |
A171T |
possibly damaging |
Het |
| Eml2 |
A |
G |
7: 18,927,986 (GRCm39) |
D284G |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,776,843 (GRCm39) |
D1377G |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,838,183 (GRCm39) |
E2687G |
possibly damaging |
Het |
| Fut9 |
A |
C |
4: 25,620,352 (GRCm39) |
L154R |
probably damaging |
Het |
| Gabrb2 |
A |
G |
11: 42,517,540 (GRCm39) |
N454S |
probably benign |
Het |
| Gpr183 |
T |
A |
14: 122,192,153 (GRCm39) |
I123L |
probably benign |
Het |
| Gucy1b1 |
A |
T |
3: 81,965,659 (GRCm39) |
N62K |
probably benign |
Het |
| Hcrtr2 |
T |
C |
9: 76,167,067 (GRCm39) |
N90S |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,791,577 (GRCm39) |
L2556Q |
probably damaging |
Het |
| Hfm1 |
T |
A |
5: 106,995,542 (GRCm39) |
M1290L |
probably benign |
Het |
| Hgsnat |
A |
G |
8: 26,447,284 (GRCm39) |
W337R |
probably benign |
Het |
| Hmbox1 |
T |
C |
14: 65,066,097 (GRCm39) |
Y291C |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,597,415 (GRCm39) |
N1749S |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,238,693 (GRCm39) |
D496G |
possibly damaging |
Het |
| Iqch |
C |
T |
9: 63,441,619 (GRCm39) |
|
probably null |
Het |
| Irf6 |
A |
G |
1: 192,849,843 (GRCm39) |
D255G |
probably benign |
Het |
| Kif9 |
G |
A |
9: 110,346,787 (GRCm39) |
G642R |
probably null |
Het |
| Klhl20 |
A |
G |
1: 160,934,312 (GRCm39) |
Y236H |
probably benign |
Het |
| Krt39 |
T |
A |
11: 99,409,914 (GRCm39) |
K208* |
probably null |
Het |
| Lama3 |
T |
A |
18: 12,670,838 (GRCm39) |
L808* |
probably null |
Het |
| Lrp5 |
C |
T |
19: 3,647,346 (GRCm39) |
A1299T |
probably benign |
Het |
| Lysmd4 |
A |
G |
7: 66,875,979 (GRCm39) |
Q214R |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,263,641 (GRCm39) |
E6960V |
probably damaging |
Het |
| Mcpt2 |
A |
G |
14: 56,281,156 (GRCm39) |
E120G |
probably benign |
Het |
| Mpeg1 |
A |
G |
19: 12,439,720 (GRCm39) |
T393A |
probably benign |
Het |
| Myh4 |
G |
A |
11: 67,146,508 (GRCm39) |
E1494K |
probably damaging |
Het |
| Nbas |
T |
G |
12: 13,524,230 (GRCm39) |
S1695R |
possibly damaging |
Het |
| Nlgn1 |
G |
T |
3: 25,494,201 (GRCm39) |
Y249* |
probably null |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Nup107 |
A |
G |
10: 117,586,811 (GRCm39) |
L910P |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,931,122 (GRCm39) |
D5838V |
probably damaging |
Het |
| Or10g7 |
T |
C |
9: 39,905,655 (GRCm39) |
I183T |
probably benign |
Het |
| Or1j18 |
T |
C |
2: 36,624,357 (GRCm39) |
I8T |
probably benign |
Het |
| Or4c113 |
G |
A |
2: 88,885,203 (GRCm39) |
T189M |
possibly damaging |
Het |
| Or8d2b |
T |
C |
9: 38,788,892 (GRCm39) |
I140T |
possibly damaging |
Het |
| Otogl |
G |
T |
10: 107,690,125 (GRCm39) |
S915Y |
possibly damaging |
Het |
| P2rx7 |
T |
A |
5: 122,819,095 (GRCm39) |
C506S |
probably damaging |
Het |
| P4hb |
T |
C |
11: 120,454,044 (GRCm39) |
E350G |
probably benign |
Het |
| Papolg |
A |
T |
11: 23,817,379 (GRCm39) |
V606E |
probably benign |
Het |
| Pappa |
A |
T |
4: 65,258,980 (GRCm39) |
D1576V |
probably damaging |
Het |
| Pclo |
G |
T |
5: 14,828,566 (GRCm39) |
V1402F |
probably damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,086,626 (GRCm39) |
T211A |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,373,941 (GRCm39) |
R2065G |
possibly damaging |
Het |
| Plcl2 |
T |
C |
17: 50,914,878 (GRCm39) |
V629A |
probably benign |
Het |
| Prkcsh |
G |
A |
9: 21,915,871 (GRCm39) |
V92I |
possibly damaging |
Het |
| Prpf19 |
G |
T |
19: 10,879,780 (GRCm39) |
V320F |
probably damaging |
Het |
| Ptpn3 |
T |
A |
4: 57,239,682 (GRCm39) |
I283F |
probably damaging |
Het |
| Rcc2 |
T |
A |
4: 140,447,915 (GRCm39) |
D480E |
probably benign |
Het |
| Rnf182 |
G |
A |
13: 43,821,518 (GRCm39) |
C23Y |
probably damaging |
Het |
| Rnf186 |
C |
T |
4: 138,694,673 (GRCm39) |
T71I |
probably benign |
Het |
| Scyl3 |
A |
G |
1: 163,761,265 (GRCm39) |
|
probably null |
Het |
| Slc12a6 |
G |
T |
2: 112,166,272 (GRCm39) |
|
probably null |
Het |
| Slc1a2 |
C |
A |
2: 102,607,912 (GRCm39) |
S520Y |
probably damaging |
Het |
| Slc35e2 |
T |
A |
4: 155,696,186 (GRCm39) |
L191Q |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Snx33 |
T |
C |
9: 56,833,295 (GRCm39) |
H258R |
possibly damaging |
Het |
| Tecpr2 |
A |
T |
12: 110,899,498 (GRCm39) |
H622L |
probably benign |
Het |
| Thbs3 |
A |
T |
3: 89,133,713 (GRCm39) |
E888D |
probably damaging |
Het |
| Tlk2 |
T |
C |
11: 105,112,124 (GRCm39) |
L159P |
probably benign |
Het |
| Tmem70 |
A |
T |
1: 16,747,497 (GRCm39) |
T205S |
probably damaging |
Het |
| Trappc10 |
T |
A |
10: 78,032,285 (GRCm39) |
H1001L |
probably benign |
Het |
| Trim12a |
T |
C |
7: 103,950,064 (GRCm39) |
T292A |
probably benign |
Het |
| Trip11 |
G |
A |
12: 101,849,592 (GRCm39) |
R92* |
probably null |
Het |
| Trpa1 |
G |
A |
1: 14,969,612 (GRCm39) |
Q386* |
probably null |
Het |
| Trpc4 |
T |
A |
3: 54,187,410 (GRCm39) |
V454D |
probably damaging |
Het |
| Ttc36 |
A |
T |
9: 44,714,051 (GRCm39) |
D22E |
probably benign |
Het |
| Ttk |
A |
T |
9: 83,751,316 (GRCm39) |
I798F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,573,977 (GRCm39) |
I17312V |
probably damaging |
Het |
| Txndc15 |
A |
T |
13: 55,865,875 (GRCm39) |
E113V |
possibly damaging |
Het |
| Ube2d4 |
T |
A |
15: 58,718,448 (GRCm39) |
|
noncoding transcript |
Het |
| Urb1 |
T |
A |
16: 90,558,583 (GRCm39) |
T1723S |
probably benign |
Het |
| Vmn1r65 |
A |
T |
7: 6,011,265 (GRCm39) |
V323D |
possibly damaging |
Het |
| Vmn2r54 |
A |
G |
7: 12,366,238 (GRCm39) |
M232T |
probably benign |
Het |
| Wdr59 |
A |
G |
8: 112,202,813 (GRCm39) |
S577P |
probably damaging |
Het |
| Wfikkn2 |
C |
T |
11: 94,128,949 (GRCm39) |
W397* |
probably null |
Het |
| Ypel1 |
T |
A |
16: 16,899,511 (GRCm39) |
|
probably null |
Het |
| Ythdf1 |
T |
A |
2: 180,552,763 (GRCm39) |
D484V |
probably damaging |
Het |
| Zdhhc17 |
A |
G |
10: 110,783,154 (GRCm39) |
|
probably null |
Het |
| Zfp472 |
A |
T |
17: 33,184,887 (GRCm39) |
H2L |
possibly damaging |
Het |
| Zfp953 |
A |
T |
13: 67,493,422 (GRCm39) |
M74K |
probably benign |
Het |
| Zmat4 |
C |
T |
8: 24,419,151 (GRCm39) |
T61M |
probably benign |
Het |
|
| Other mutations in Ankhd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Ankhd1
|
APN |
18 |
36,798,512 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00927:Ankhd1
|
APN |
18 |
36,765,125 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01367:Ankhd1
|
APN |
18 |
36,711,696 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01624:Ankhd1
|
APN |
18 |
36,791,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01725:Ankhd1
|
APN |
18 |
36,781,206 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01767:Ankhd1
|
APN |
18 |
36,781,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02005:Ankhd1
|
APN |
18 |
36,781,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02009:Ankhd1
|
APN |
18 |
36,757,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02246:Ankhd1
|
APN |
18 |
36,789,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02336:Ankhd1
|
APN |
18 |
36,727,867 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02628:Ankhd1
|
APN |
18 |
36,780,756 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02644:Ankhd1
|
APN |
18 |
36,711,828 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02735:Ankhd1
|
APN |
18 |
36,781,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02877:Ankhd1
|
APN |
18 |
36,727,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03129:Ankhd1
|
APN |
18 |
36,791,061 (GRCm39) |
nonsense |
probably null |
|
|
IGL03163:Ankhd1
|
APN |
18 |
36,780,681 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03182:Ankhd1
|
APN |
18 |
36,711,827 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03184:Ankhd1
|
APN |
18 |
36,780,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03398:Ankhd1
|
APN |
18 |
36,789,890 (GRCm39) |
splice site |
probably benign |
|
|
FR4304:Ankhd1
|
UTSW |
18 |
36,693,977 (GRCm39) |
small insertion |
probably benign |
|
|
R0051:Ankhd1
|
UTSW |
18 |
36,780,241 (GRCm39) |
unclassified |
probably benign |
|
|
R0089:Ankhd1
|
UTSW |
18 |
36,773,409 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0105:Ankhd1
|
UTSW |
18 |
36,779,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0149:Ankhd1
|
UTSW |
18 |
36,780,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0243:Ankhd1
|
UTSW |
18 |
36,767,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0322:Ankhd1
|
UTSW |
18 |
36,791,061 (GRCm39) |
nonsense |
probably null |
|
|
R0361:Ankhd1
|
UTSW |
18 |
36,780,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0389:Ankhd1
|
UTSW |
18 |
36,777,652 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0418:Ankhd1
|
UTSW |
18 |
36,767,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0443:Ankhd1
|
UTSW |
18 |
36,777,652 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0540:Ankhd1
|
UTSW |
18 |
36,773,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Ankhd1
|
UTSW |
18 |
36,773,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0738:Ankhd1
|
UTSW |
18 |
36,778,302 (GRCm39) |
splice site |
probably benign |
|
|
R1127:Ankhd1
|
UTSW |
18 |
36,767,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1434:Ankhd1
|
UTSW |
18 |
36,758,212 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1742:Ankhd1
|
UTSW |
18 |
36,758,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1776:Ankhd1
|
UTSW |
18 |
36,780,361 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1923:Ankhd1
|
UTSW |
18 |
36,781,083 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2044:Ankhd1
|
UTSW |
18 |
36,778,166 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2112:Ankhd1
|
UTSW |
18 |
36,774,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2115:Ankhd1
|
UTSW |
18 |
36,767,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2136:Ankhd1
|
UTSW |
18 |
36,780,674 (GRCm39) |
missense |
probably benign |
|
|
R2196:Ankhd1
|
UTSW |
18 |
36,781,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2291:Ankhd1
|
UTSW |
18 |
36,777,386 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2305:Ankhd1
|
UTSW |
18 |
36,775,979 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2309:Ankhd1
|
UTSW |
18 |
36,757,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2519:Ankhd1
|
UTSW |
18 |
36,711,596 (GRCm39) |
splice site |
probably null |
|
|
R2958:Ankhd1
|
UTSW |
18 |
36,767,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3978:Ankhd1
|
UTSW |
18 |
36,780,666 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3980:Ankhd1
|
UTSW |
18 |
36,780,666 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4159:Ankhd1
|
UTSW |
18 |
36,722,593 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4199:Ankhd1
|
UTSW |
18 |
36,794,101 (GRCm39) |
unclassified |
probably benign |
|
|
R4323:Ankhd1
|
UTSW |
18 |
36,711,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4356:Ankhd1
|
UTSW |
18 |
36,776,096 (GRCm39) |
nonsense |
probably null |
|
|
R4496:Ankhd1
|
UTSW |
18 |
36,693,839 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4551:Ankhd1
|
UTSW |
18 |
36,788,560 (GRCm39) |
splice site |
probably null |
|
|
R4590:Ankhd1
|
UTSW |
18 |
36,716,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4667:Ankhd1
|
UTSW |
18 |
36,781,074 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4889:Ankhd1
|
UTSW |
18 |
36,711,787 (GRCm39) |
missense |
probably null |
0.00 |
|
R4923:Ankhd1
|
UTSW |
18 |
36,722,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5091:Ankhd1
|
UTSW |
18 |
36,758,080 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5254:Ankhd1
|
UTSW |
18 |
36,789,768 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5314:Ankhd1
|
UTSW |
18 |
36,694,111 (GRCm39) |
splice site |
probably null |
|
|
R5336:Ankhd1
|
UTSW |
18 |
36,779,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5367:Ankhd1
|
UTSW |
18 |
36,722,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5384:Ankhd1
|
UTSW |
18 |
36,724,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Ankhd1
|
UTSW |
18 |
36,724,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5387:Ankhd1
|
UTSW |
18 |
36,767,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5458:Ankhd1
|
UTSW |
18 |
36,781,538 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5599:Ankhd1
|
UTSW |
18 |
36,693,860 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5659:Ankhd1
|
UTSW |
18 |
36,694,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5750:Ankhd1
|
UTSW |
18 |
36,757,955 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5874:Ankhd1
|
UTSW |
18 |
36,773,322 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5894:Ankhd1
|
UTSW |
18 |
36,780,577 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5969:Ankhd1
|
UTSW |
18 |
36,733,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6133:Ankhd1
|
UTSW |
18 |
36,758,179 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6190:Ankhd1
|
UTSW |
18 |
36,744,862 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6247:Ankhd1
|
UTSW |
18 |
36,787,199 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6512:Ankhd1
|
UTSW |
18 |
36,724,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6649:Ankhd1
|
UTSW |
18 |
36,733,836 (GRCm39) |
splice site |
probably null |
|
|
R6653:Ankhd1
|
UTSW |
18 |
36,733,836 (GRCm39) |
splice site |
probably null |
|
|
R6763:Ankhd1
|
UTSW |
18 |
36,776,022 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6976:Ankhd1
|
UTSW |
18 |
36,781,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7075:Ankhd1
|
UTSW |
18 |
36,693,042 (GRCm39) |
missense |
|
|
|
R7208:Ankhd1
|
UTSW |
18 |
36,758,081 (GRCm39) |
missense |
probably benign |
|
|
R7305:Ankhd1
|
UTSW |
18 |
36,765,258 (GRCm39) |
missense |
|
|
|
R7615:Ankhd1
|
UTSW |
18 |
36,789,826 (GRCm39) |
missense |
|
|
|
R7654:Ankhd1
|
UTSW |
18 |
36,727,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7781:Ankhd1
|
UTSW |
18 |
36,758,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7842:Ankhd1
|
UTSW |
18 |
36,780,881 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7965:Ankhd1
|
UTSW |
18 |
36,791,465 (GRCm39) |
missense |
|
|
|
R8006:Ankhd1
|
UTSW |
18 |
36,781,772 (GRCm39) |
missense |
|
|
|
R8037:Ankhd1
|
UTSW |
18 |
36,771,676 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8123:Ankhd1
|
UTSW |
18 |
36,708,136 (GRCm39) |
missense |
|
|
|
R8195:Ankhd1
|
UTSW |
18 |
36,787,230 (GRCm39) |
missense |
|
|
|
R8305:Ankhd1
|
UTSW |
18 |
36,780,219 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8708:Ankhd1
|
UTSW |
18 |
36,727,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8827:Ankhd1
|
UTSW |
18 |
36,757,633 (GRCm39) |
nonsense |
probably null |
|
|
R9138:Ankhd1
|
UTSW |
18 |
36,693,961 (GRCm39) |
small deletion |
probably benign |
|
|
R9139:Ankhd1
|
UTSW |
18 |
36,711,810 (GRCm39) |
missense |
|
|
|
R9186:Ankhd1
|
UTSW |
18 |
36,767,383 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9245:Ankhd1
|
UTSW |
18 |
36,788,653 (GRCm39) |
missense |
|
|
|
R9254:Ankhd1
|
UTSW |
18 |
36,777,680 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9262:Ankhd1
|
UTSW |
18 |
36,765,799 (GRCm39) |
missense |
|
|
|
R9379:Ankhd1
|
UTSW |
18 |
36,777,680 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9436:Ankhd1
|
UTSW |
18 |
36,774,654 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9436:Ankhd1
|
UTSW |
18 |
36,694,041 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9541:Ankhd1
|
UTSW |
18 |
36,757,697 (GRCm39) |
missense |
|
|
|
R9584:Ankhd1
|
UTSW |
18 |
36,798,504 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9664:Ankhd1
|
UTSW |
18 |
36,780,878 (GRCm39) |
missense |
probably benign |
0.03 |
|
RF001:Ankhd1
|
UTSW |
18 |
36,693,974 (GRCm39) |
small insertion |
probably benign |
|
|
RF004:Ankhd1
|
UTSW |
18 |
36,693,963 (GRCm39) |
small insertion |
probably benign |
|
|
RF007:Ankhd1
|
UTSW |
18 |
36,693,962 (GRCm39) |
small insertion |
probably benign |
|
|
RF008:Ankhd1
|
UTSW |
18 |
36,693,977 (GRCm39) |
small insertion |
probably benign |
|
|
RF009:Ankhd1
|
UTSW |
18 |
36,693,975 (GRCm39) |
small insertion |
probably benign |
|
|
RF013:Ankhd1
|
UTSW |
18 |
36,693,979 (GRCm39) |
small insertion |
probably benign |
|
|
RF016:Ankhd1
|
UTSW |
18 |
36,693,963 (GRCm39) |
small insertion |
probably benign |
|
|
RF016:Ankhd1
|
UTSW |
18 |
36,693,962 (GRCm39) |
small insertion |
probably benign |
|
|
RF017:Ankhd1
|
UTSW |
18 |
36,693,962 (GRCm39) |
small insertion |
probably benign |
|
|
RF018:Ankhd1
|
UTSW |
18 |
36,693,965 (GRCm39) |
small insertion |
probably benign |
|
|
RF026:Ankhd1
|
UTSW |
18 |
36,693,965 (GRCm39) |
small insertion |
probably benign |
|
|
RF030:Ankhd1
|
UTSW |
18 |
36,693,980 (GRCm39) |
small insertion |
probably benign |
|
|
RF030:Ankhd1
|
UTSW |
18 |
36,693,966 (GRCm39) |
small insertion |
probably benign |
|
|
RF039:Ankhd1
|
UTSW |
18 |
36,693,971 (GRCm39) |
small insertion |
probably benign |
|
|
RF043:Ankhd1
|
UTSW |
18 |
36,693,970 (GRCm39) |
small insertion |
probably benign |
|
|
RF046:Ankhd1
|
UTSW |
18 |
36,693,979 (GRCm39) |
small insertion |
probably benign |
|
|
RF047:Ankhd1
|
UTSW |
18 |
36,693,976 (GRCm39) |
small insertion |
probably benign |
|
|
RF047:Ankhd1
|
UTSW |
18 |
36,693,970 (GRCm39) |
small insertion |
probably benign |
|
|
RF049:Ankhd1
|
UTSW |
18 |
36,693,976 (GRCm39) |
small insertion |
probably benign |
|
|
RF050:Ankhd1
|
UTSW |
18 |
36,693,980 (GRCm39) |
small insertion |
probably benign |
|
|
RF054:Ankhd1
|
UTSW |
18 |
36,693,982 (GRCm39) |
small insertion |
probably benign |
|
|
RF057:Ankhd1
|
UTSW |
18 |
36,693,982 (GRCm39) |
small insertion |
probably benign |
|
|
RF060:Ankhd1
|
UTSW |
18 |
36,693,975 (GRCm39) |
small insertion |
probably benign |
|
|
RF061:Ankhd1
|
UTSW |
18 |
36,693,974 (GRCm39) |
small insertion |
probably benign |
|
|
RF062:Ankhd1
|
UTSW |
18 |
36,693,971 (GRCm39) |
small insertion |
probably benign |
|
|
X0027:Ankhd1
|
UTSW |
18 |
36,757,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Ankhd1
|
UTSW |
18 |
36,711,817 (GRCm39) |
nonsense |
probably null |
|
|
X0066:Ankhd1
|
UTSW |
18 |
36,779,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCTCTGCTACATCTACCACG -3'
(R):5'- TACCGTGTCTGAGTCTTGGAAG -3'
Sequencing Primer
(F):5'- GCTACATCTACCACGTTTACAAATG -3'
(R):5'- AAGTGGTGGTAACTGCCTTTTCC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation