Incidental Mutation 'R9664:Ankhd1'
| ID |
735673 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9664 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
36693656-36791961 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 36780878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 1977
(S1977A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006205]
[ENSMUST00000142977]
[ENSMUST00000155329]
|
| AlphaFold |
E9PUR0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006205
AA Change: S1977A
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000006205
Gene: ENSMUSG00000024483
AA Change: S1977A
| 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 |
probably benign
Transcript: ENSMUST00000037072
AA Change: S466A
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000040300
Gene: ENSMUSG00000024483
AA Change: S466A
| 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: S1977A
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000120290
Gene: ENSMUSG00000024483
AA Change: S1977A
| 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 |
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: S1977A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000123270
Gene: ENSMUSG00000024483
AA Change: S1977A
| 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: 99.8%
- 3x: 99.7%
- 10x: 99.2%
- 20x: 98.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 99 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck5 |
G |
A |
15: 76,478,383 (GRCm39) |
D277N |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,670,288 (GRCm39) |
S2353T |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,743,371 (GRCm39) |
N43K |
probably damaging |
Het |
| Adnp2 |
A |
G |
18: 80,185,937 (GRCm39) |
I12T |
probably damaging |
Het |
| Ahnak2 |
A |
G |
12: 112,741,363 (GRCm39) |
L903P |
probably damaging |
Het |
| Ap1m2 |
T |
C |
9: 21,216,983 (GRCm39) |
M118V |
probably benign |
Het |
| Ap3d1 |
T |
C |
10: 80,548,639 (GRCm39) |
K846R |
possibly damaging |
Het |
| Aqr |
C |
A |
2: 113,971,396 (GRCm39) |
E480* |
probably null |
Het |
| Arl6 |
G |
T |
16: 59,434,199 (GRCm39) |
Q182K |
probably benign |
Het |
| Arpc2 |
A |
G |
1: 74,294,034 (GRCm39) |
K106E |
probably benign |
Het |
| Atp8a1 |
A |
C |
5: 67,889,524 (GRCm39) |
F599V |
|
Het |
| B3galt5 |
A |
T |
16: 96,117,203 (GRCm39) |
I279F |
probably damaging |
Het |
| Calcoco2 |
G |
T |
11: 95,991,104 (GRCm39) |
A211D |
unknown |
Het |
| Ccdc33 |
T |
C |
9: 57,993,855 (GRCm39) |
E342G |
possibly damaging |
Het |
| Ccdc88a |
C |
A |
11: 29,405,484 (GRCm39) |
Q386K |
probably benign |
Het |
| Cdh20 |
A |
G |
1: 104,862,065 (GRCm39) |
K82E |
probably benign |
Het |
| Clca3a2 |
A |
T |
3: 144,503,575 (GRCm39) |
Y792N |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,658,254 (GRCm39) |
I653V |
probably benign |
Het |
| Col7a1 |
C |
T |
9: 108,812,649 (GRCm39) |
R2826W |
unknown |
Het |
| D6Ertd527e |
A |
G |
6: 87,088,908 (GRCm39) |
N357S |
unknown |
Het |
| Dmgdh |
T |
A |
13: 93,857,123 (GRCm39) |
N742K |
probably benign |
Het |
| Dnai3 |
T |
C |
3: 145,748,594 (GRCm39) |
N840S |
probably benign |
Het |
| Dnajc6 |
A |
G |
4: 101,475,821 (GRCm39) |
N565D |
probably benign |
Het |
| Doc2g |
A |
G |
19: 4,054,390 (GRCm39) |
Y155C |
probably damaging |
Het |
| Dot1l |
G |
A |
10: 80,624,361 (GRCm39) |
G943D |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,220,736 (GRCm39) |
V2180A |
probably benign |
Het |
| Eftud2 |
A |
C |
11: 102,759,422 (GRCm39) |
Y160* |
probably null |
Het |
| Ehd1 |
A |
T |
19: 6,331,262 (GRCm39) |
Q140L |
probably benign |
Het |
| Etv3 |
T |
C |
3: 87,443,172 (GRCm39) |
V252A |
probably benign |
Het |
| F11 |
A |
T |
8: 45,694,566 (GRCm39) |
C598* |
probably null |
Het |
| Fancm |
T |
A |
12: 65,137,758 (GRCm39) |
N316K |
probably benign |
Het |
| Flnc |
T |
C |
6: 29,457,214 (GRCm39) |
V2372A |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,282,488 (GRCm39) |
R338G |
probably damaging |
Het |
| Gfra3 |
T |
C |
18: 34,837,591 (GRCm39) |
T136A |
probably benign |
Het |
| Golga7b |
T |
C |
19: 42,255,462 (GRCm39) |
V113A |
possibly damaging |
Het |
| Gpn3 |
G |
T |
5: 122,520,306 (GRCm39) |
V102L |
|
Het |
| Herc2 |
A |
G |
7: 55,820,338 (GRCm39) |
N2859S |
possibly damaging |
Het |
| Hpd |
A |
T |
5: 123,318,948 (GRCm39) |
|
probably null |
Het |
| Hspg2 |
C |
T |
4: 137,266,887 (GRCm39) |
T1964I |
probably benign |
Het |
| Hydin |
A |
T |
8: 111,220,965 (GRCm39) |
T1454S |
probably benign |
Het |
| Irgm2 |
A |
T |
11: 58,110,872 (GRCm39) |
T188S |
possibly damaging |
Het |
| Jak3 |
A |
G |
8: 72,131,366 (GRCm39) |
D77G |
probably damaging |
Het |
| Kcnj4 |
G |
T |
15: 79,369,220 (GRCm39) |
F253L |
possibly damaging |
Het |
| Kidins220 |
T |
A |
12: 25,106,895 (GRCm39) |
D1358E |
probably benign |
Het |
| Klf1 |
C |
A |
8: 85,630,061 (GRCm39) |
C295* |
probably null |
Het |
| Kmt2a |
C |
T |
9: 44,760,102 (GRCm39) |
W582* |
probably null |
Het |
| Lrig2 |
A |
G |
3: 104,371,556 (GRCm39) |
C716R |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 40,765,004 (GRCm39) |
D2941N |
|
Het |
| Lrpprc |
A |
T |
17: 85,020,262 (GRCm39) |
V1141E |
probably damaging |
Het |
| Mrgprx1 |
C |
T |
7: 47,671,273 (GRCm39) |
G158D |
probably benign |
Het |
| Muc5b |
C |
A |
7: 141,409,279 (GRCm39) |
A1121D |
unknown |
Het |
| Nf1 |
G |
T |
11: 79,334,733 (GRCm39) |
V852L |
probably damaging |
Het |
| Nlrp5 |
A |
G |
7: 23,118,286 (GRCm39) |
E670G |
probably benign |
Het |
| Notch4 |
A |
G |
17: 34,784,601 (GRCm39) |
T101A |
probably benign |
Het |
| Or10a49 |
T |
C |
7: 108,467,563 (GRCm39) |
Y266C |
probably damaging |
Het |
| Or2t35 |
T |
A |
14: 14,407,963 (GRCm38) |
I245K |
probably benign |
Het |
| Or5b123 |
G |
A |
19: 13,597,365 (GRCm39) |
V237I |
probably benign |
Het |
| P2rx2 |
T |
C |
5: 110,488,172 (GRCm39) |
T461A |
probably benign |
Het |
| Pank1 |
G |
A |
19: 34,799,194 (GRCm39) |
T419I |
probably damaging |
Het |
| Patz1 |
T |
C |
11: 3,244,562 (GRCm39) |
V481A |
unknown |
Het |
| Pdlim5 |
A |
G |
3: 142,018,058 (GRCm39) |
L179P |
probably benign |
Het |
| Pik3ap1 |
A |
T |
19: 41,296,967 (GRCm39) |
V461D |
probably damaging |
Het |
| Polq |
T |
C |
16: 36,848,176 (GRCm39) |
V261A |
probably damaging |
Het |
| Ppm1a |
G |
A |
12: 72,837,451 (GRCm39) |
V333M |
possibly damaging |
Het |
| R3hcc1l |
T |
C |
19: 42,552,671 (GRCm39) |
L556P |
probably benign |
Het |
| Rabggta |
G |
A |
14: 55,956,375 (GRCm39) |
Q365* |
probably null |
Het |
| Ranbp9 |
T |
C |
13: 43,578,519 (GRCm39) |
T185A |
probably benign |
Het |
| Rd3l |
T |
G |
12: 111,945,913 (GRCm39) |
N189H |
probably damaging |
Het |
| Rnf17 |
A |
G |
14: 56,722,636 (GRCm39) |
T1066A |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,332,794 (GRCm39) |
A2669T |
|
Het |
| Ros1 |
T |
A |
10: 51,996,931 (GRCm39) |
H1268L |
probably benign |
Het |
| Rps6ka4 |
G |
T |
19: 6,809,354 (GRCm39) |
S433R |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,759,092 (GRCm39) |
L3362P |
probably damaging |
Het |
| Setd1b |
A |
T |
5: 123,298,046 (GRCm39) |
T1361S |
unknown |
Het |
| Setd2 |
T |
C |
9: 110,377,570 (GRCm39) |
S462P |
probably damaging |
Het |
| Sgsm3 |
A |
T |
15: 80,890,935 (GRCm39) |
Q132L |
probably benign |
Het |
| Slx1b |
C |
A |
7: 126,291,698 (GRCm39) |
R122L |
probably damaging |
Het |
| Sorbs2 |
A |
T |
8: 46,276,788 (GRCm39) |
T1167S |
probably benign |
Het |
| Spdya |
A |
C |
17: 71,869,513 (GRCm39) |
T103P |
probably damaging |
Het |
| Stfa2 |
A |
G |
16: 36,228,638 (GRCm39) |
S20P |
probably benign |
Het |
| Sulf1 |
A |
G |
1: 12,891,026 (GRCm39) |
T400A |
probably benign |
Het |
| Tardbp |
A |
T |
4: 148,709,751 (GRCm39) |
D23E |
probably damaging |
Het |
| Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
| Tgm1 |
C |
T |
14: 55,948,441 (GRCm39) |
D237N |
probably benign |
Het |
| Tgs1 |
T |
A |
4: 3,585,964 (GRCm39) |
N280K |
probably benign |
Het |
| Tmem198 |
A |
T |
1: 75,459,272 (GRCm39) |
I76F |
possibly damaging |
Het |
| Trpv2 |
A |
T |
11: 62,475,385 (GRCm39) |
Y266F |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,569,845 (GRCm39) |
G27016E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,781,824 (GRCm39) |
E1074G |
unknown |
Het |
| Unc5b |
A |
T |
10: 60,613,322 (GRCm39) |
W305R |
probably damaging |
Het |
| Usp38 |
A |
G |
8: 81,741,164 (GRCm39) |
|
probably benign |
Het |
| Vmn1r79 |
A |
G |
7: 11,910,582 (GRCm39) |
T155A |
probably benign |
Het |
| Vwce |
G |
A |
19: 10,615,481 (GRCm39) |
V121I |
probably benign |
Het |
| Wdr91 |
A |
T |
6: 34,865,961 (GRCm39) |
D530E |
probably benign |
Het |
| Wnt4 |
A |
G |
4: 137,023,929 (GRCm39) |
T299A |
probably benign |
Het |
| Yeats2 |
T |
A |
16: 20,047,491 (GRCm39) |
Y1284* |
probably null |
Het |
| Zfp113 |
A |
T |
5: 138,148,888 (GRCm39) |
Y85* |
probably null |
Het |
| Zfp184 |
A |
G |
13: 22,144,096 (GRCm39) |
T601A |
probably benign |
Het |
| Zfp655 |
A |
G |
5: 145,180,442 (GRCm39) |
E100G |
probably damaging |
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 |
|
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 |
|
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'- GGCCTGTTTTACCATCAGAATC -3'
(R):5'- TTACAACTGGTAGCTGCTGGAG -3'
Sequencing Primer
(F):5'- ATCAGAATCTCCTGGACTGGC -3'
(R):5'- ACATAGGTTTGTCAAGGGCTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation