Incidental Mutation 'R0389:Ankhd1'
| ID |
31545 |
| 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 |
038595-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0389 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
36693656-36791961 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36777652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 1612
(S1612G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006205]
[ENSMUST00000142977]
[ENSMUST00000155329]
|
| AlphaFold |
E9PUR0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006205
AA Change: S1612G
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000006205
Gene: ENSMUSG00000024483
AA Change: S1612G
| 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: S101G
|
| SMART Domains |
Protein: ENSMUSP00000040300
Gene: ENSMUSG00000024483
AA Change: S101G
| 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 |
possibly damaging
Transcript: ENSMUST00000142977
AA Change: S1612G
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000120290
Gene: ENSMUSG00000024483
AA Change: S1612G
| 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: S1612G
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000123270
Gene: ENSMUSG00000024483
AA Change: S1612G
| 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 |
|
| Meta Mutation Damage Score |
0.0738 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 91.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 104 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432M17Rik |
G |
A |
3: 121,465,053 (GRCm39) |
E30K |
unknown |
Het |
| Abi3bp |
A |
T |
16: 56,491,670 (GRCm39) |
T1319S |
possibly damaging |
Het |
| Adam18 |
T |
C |
8: 25,119,653 (GRCm39) |
|
probably null |
Het |
| Adgre1 |
G |
A |
17: 57,713,839 (GRCm39) |
D175N |
possibly damaging |
Het |
| Adgrf1 |
T |
C |
17: 43,614,679 (GRCm39) |
|
probably null |
Het |
| Anks1 |
A |
G |
17: 28,214,926 (GRCm39) |
R458G |
possibly damaging |
Het |
| Cacna1g |
C |
T |
11: 94,350,523 (GRCm39) |
V441M |
probably damaging |
Het |
| Cadps2 |
A |
T |
6: 23,321,781 (GRCm39) |
V1037E |
possibly damaging |
Het |
| Casz1 |
T |
C |
4: 149,033,368 (GRCm39) |
V1380A |
possibly damaging |
Het |
| Cenpq |
T |
C |
17: 41,244,085 (GRCm39) |
|
probably benign |
Het |
| Chrac1 |
T |
C |
15: 72,965,376 (GRCm39) |
I93T |
possibly damaging |
Het |
| Cntnap2 |
T |
A |
6: 45,986,571 (GRCm39) |
S359T |
probably benign |
Het |
| Col6a6 |
C |
A |
9: 105,661,403 (GRCm39) |
M235I |
probably benign |
Het |
| Crat |
T |
C |
2: 30,293,640 (GRCm39) |
|
probably benign |
Het |
| Cyp1a2 |
T |
C |
9: 57,589,308 (GRCm39) |
N169D |
probably benign |
Het |
| Dennd1c |
T |
A |
17: 57,374,649 (GRCm39) |
T499S |
probably benign |
Het |
| Dst |
A |
G |
1: 34,333,631 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
G |
T |
9: 7,167,244 (GRCm39) |
|
probably null |
Het |
| Eif3h |
C |
A |
15: 51,662,660 (GRCm39) |
V129F |
probably damaging |
Het |
| Eno2 |
A |
G |
6: 124,739,654 (GRCm39) |
F380L |
probably damaging |
Het |
| Ergic2 |
T |
A |
6: 148,084,700 (GRCm39) |
I34F |
probably benign |
Het |
| Ergic3 |
G |
A |
2: 155,858,707 (GRCm39) |
V278M |
probably benign |
Het |
| Fam185a |
C |
T |
5: 21,664,283 (GRCm39) |
T339M |
probably damaging |
Het |
| Fam20b |
A |
T |
1: 156,509,023 (GRCm39) |
D396E |
probably benign |
Het |
| Fasn |
G |
T |
11: 120,707,008 (GRCm39) |
D881E |
probably damaging |
Het |
| Fat1 |
C |
A |
8: 45,403,385 (GRCm39) |
H45Q |
probably benign |
Het |
| Fbxw16 |
A |
T |
9: 109,261,550 (GRCm39) |
C439S |
probably benign |
Het |
| Garin1a |
T |
A |
6: 29,281,391 (GRCm39) |
V43E |
possibly damaging |
Het |
| Gba2 |
A |
T |
4: 43,570,832 (GRCm39) |
F280Y |
probably damaging |
Het |
| Gfm1 |
A |
G |
3: 67,365,251 (GRCm39) |
I517V |
probably benign |
Het |
| Gng13 |
C |
T |
17: 25,937,696 (GRCm39) |
Q8* |
probably null |
Het |
| Golga1 |
A |
T |
2: 38,908,453 (GRCm39) |
S749T |
probably damaging |
Het |
| Gphn |
A |
T |
12: 78,637,433 (GRCm39) |
I381F |
probably damaging |
Het |
| Grm3 |
T |
C |
5: 9,554,794 (GRCm39) |
N833D |
probably damaging |
Het |
| Gstt2 |
G |
T |
10: 75,668,266 (GRCm39) |
T163K |
probably damaging |
Het |
| Gusb |
A |
T |
5: 130,026,927 (GRCm39) |
V388E |
probably damaging |
Het |
| Hcrtr2 |
A |
T |
9: 76,153,662 (GRCm39) |
Y243* |
probably null |
Het |
| Hspg2 |
A |
G |
4: 137,242,734 (GRCm39) |
T650A |
possibly damaging |
Het |
| Ints2 |
C |
T |
11: 86,139,677 (GRCm39) |
V306I |
probably damaging |
Het |
| Itga1 |
T |
A |
13: 115,128,996 (GRCm39) |
D554V |
probably benign |
Het |
| Itgam |
C |
T |
7: 127,680,806 (GRCm39) |
A245V |
probably damaging |
Het |
| Kcnk15 |
A |
G |
2: 163,700,243 (GRCm39) |
T161A |
probably benign |
Het |
| Klhl18 |
A |
T |
9: 110,257,749 (GRCm39) |
C564S |
probably benign |
Het |
| Krt40 |
T |
A |
11: 99,432,540 (GRCm39) |
R159* |
probably null |
Het |
| L3mbtl4 |
G |
A |
17: 68,762,775 (GRCm39) |
V103M |
probably damaging |
Het |
| Lnx2 |
C |
A |
5: 146,955,850 (GRCm39) |
V649L |
possibly damaging |
Het |
| Lpp |
A |
T |
16: 24,426,991 (GRCm39) |
Q39H |
probably damaging |
Het |
| Lrpprc |
A |
T |
17: 85,060,540 (GRCm39) |
|
probably null |
Het |
| Map3k19 |
A |
T |
1: 127,750,152 (GRCm39) |
N1066K |
probably benign |
Het |
| Mbtps2 |
G |
T |
X: 156,351,364 (GRCm39) |
T134K |
probably benign |
Het |
| Mfng |
C |
T |
15: 78,648,637 (GRCm39) |
V147M |
possibly damaging |
Het |
| Mks1 |
T |
C |
11: 87,748,754 (GRCm39) |
S273P |
probably benign |
Het |
| Myh2 |
T |
C |
11: 67,071,647 (GRCm39) |
L488P |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,369,364 (GRCm39) |
N708S |
probably benign |
Het |
| Myo6 |
A |
T |
9: 80,199,748 (GRCm39) |
N1019I |
probably damaging |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Ncoa1 |
T |
G |
12: 4,345,976 (GRCm39) |
N457T |
probably benign |
Het |
| Neb |
T |
C |
2: 52,051,489 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
C |
A |
7: 23,054,628 (GRCm39) |
N927K |
probably damaging |
Het |
| Npffr2 |
T |
C |
5: 89,730,613 (GRCm39) |
M181T |
probably benign |
Het |
| Nxf7 |
A |
T |
X: 134,485,132 (GRCm39) |
C495S |
possibly damaging |
Het |
| Oas1g |
T |
C |
5: 121,025,592 (GRCm39) |
T12A |
probably benign |
Het |
| Or11g2 |
T |
A |
14: 50,856,036 (GRCm39) |
L119Q |
probably damaging |
Het |
| Or1e17 |
T |
A |
11: 73,831,879 (GRCm39) |
V269E |
probably benign |
Het |
| Or2g7 |
C |
G |
17: 38,378,562 (GRCm39) |
R167G |
possibly damaging |
Het |
| Or52s1b |
A |
T |
7: 102,822,490 (GRCm39) |
V118E |
possibly damaging |
Het |
| Or5p60 |
A |
G |
7: 107,724,023 (GRCm39) |
V149A |
probably benign |
Het |
| Papln |
C |
T |
12: 83,830,153 (GRCm39) |
Q1008* |
probably null |
Het |
| Pcdhb10 |
A |
C |
18: 37,545,485 (GRCm39) |
D187A |
probably damaging |
Het |
| Phf2 |
T |
A |
13: 48,957,965 (GRCm39) |
E1016D |
unknown |
Het |
| Phf8 |
T |
A |
X: 150,335,618 (GRCm39) |
D197E |
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,235,865 (GRCm39) |
H179R |
probably damaging |
Het |
| Prkcz |
T |
A |
4: 155,353,597 (GRCm39) |
D250V |
probably damaging |
Het |
| Prpf4 |
A |
G |
4: 62,340,842 (GRCm39) |
Y419C |
probably damaging |
Het |
| Prr15l |
C |
A |
11: 96,825,440 (GRCm39) |
Y23* |
probably null |
Het |
| Prr5 |
T |
A |
15: 84,587,152 (GRCm39) |
S301T |
probably benign |
Het |
| Psg16 |
T |
A |
7: 16,829,088 (GRCm39) |
I224N |
probably benign |
Het |
| Radil |
A |
G |
5: 142,529,226 (GRCm39) |
F186L |
probably damaging |
Het |
| Reg3g |
A |
T |
6: 78,445,544 (GRCm39) |
M1K |
probably null |
Het |
| Rps6ka3 |
A |
G |
X: 158,100,963 (GRCm39) |
Y76C |
probably damaging |
Het |
| Rtl1 |
C |
T |
12: 109,556,797 (GRCm39) |
V1681I |
possibly damaging |
Het |
| Sfmbt1 |
C |
T |
14: 30,533,464 (GRCm39) |
R614C |
probably damaging |
Het |
| Slc12a4 |
A |
G |
8: 106,678,599 (GRCm39) |
S244P |
probably benign |
Het |
| Sp140l2 |
T |
A |
1: 85,247,773 (GRCm39) |
N5Y |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,089,250 (GRCm39) |
T671A |
possibly damaging |
Het |
| Supt16 |
A |
T |
14: 52,411,570 (GRCm39) |
N604K |
probably damaging |
Het |
| Synj2 |
G |
A |
17: 6,080,058 (GRCm39) |
V1096I |
probably benign |
Het |
| Tas2r129 |
G |
T |
6: 132,928,159 (GRCm39) |
C32F |
probably benign |
Het |
| Tbc1d25 |
T |
C |
X: 8,039,108 (GRCm39) |
Y140C |
probably damaging |
Het |
| Tdrd7 |
A |
G |
4: 46,016,987 (GRCm39) |
D709G |
probably benign |
Het |
| Tfap2d |
C |
T |
1: 19,174,591 (GRCm39) |
R15C |
possibly damaging |
Het |
| Tgfbi |
C |
A |
13: 56,777,515 (GRCm39) |
T333N |
probably benign |
Het |
| Tnk1 |
T |
C |
11: 69,746,508 (GRCm39) |
Y235C |
probably damaging |
Het |
| Ttc17 |
A |
G |
2: 94,208,439 (GRCm39) |
F144S |
probably benign |
Het |
| Twnk |
G |
T |
19: 44,996,578 (GRCm39) |
G337V |
possibly damaging |
Het |
| Unc13a |
A |
G |
8: 72,110,676 (GRCm39) |
F464L |
probably benign |
Het |
| Usp17le |
C |
A |
7: 104,417,667 (GRCm39) |
A492S |
probably damaging |
Het |
| Vmn1r213 |
A |
T |
13: 23,195,932 (GRCm39) |
M172L |
probably benign |
Het |
| Vmn1r71 |
G |
A |
7: 10,482,238 (GRCm39) |
T84I |
probably benign |
Het |
| Vmn2r109 |
C |
T |
17: 20,761,336 (GRCm39) |
V674M |
probably damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,312,945 (GRCm39) |
I672F |
possibly damaging |
Het |
| Vmn2r77 |
T |
C |
7: 86,450,702 (GRCm39) |
V196A |
probably benign |
Het |
| Xdh |
T |
A |
17: 74,205,357 (GRCm39) |
H1036L |
probably damaging |
Het |
| Zfp930 |
T |
A |
8: 69,680,948 (GRCm39) |
Y214* |
probably null |
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 |
|
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 |
|
R1856:Ankhd1
|
UTSW |
18 |
36,777,580 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- GCGCATTTAATTTTACCTGAGCCACAT -3'
(R):5'- TCACCATCAAGGCTGAGAAAATGCAAT -3'
Sequencing Primer
(F):5'- CTGAGCCACATATATCTTTAGCAC -3'
(R):5'- ACATACTGTAAAATGTTATGCCAGG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation