Incidental Mutation 'R5384:Ankhd1'
| ID |
425006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankhd1
|
| Ensembl Gene |
ENSMUSG00000024483 |
| Gene Name |
ankyrin repeat and KH domain containing 1 |
| Synonyms |
A530027J04Rik, 9130019P20Rik, 4933432B13Rik, 1110004O12Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5384 (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 36724548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 402
(E402G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006205]
[ENSMUST00000142977]
[ENSMUST00000155329]
|
| AlphaFold |
E9PUR0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006205
AA Change: E402G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000006205
Gene: ENSMUSG00000024483
AA Change: E402G
| 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 damaging
Transcript: ENSMUST00000142977
AA Change: E402G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120290
Gene: ENSMUSG00000024483
AA Change: E402G
| 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 damaging
Transcript: ENSMUST00000155329
AA Change: E402G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123270
Gene: ENSMUSG00000024483
AA Change: E402G
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 126 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
C |
13: 119,606,496 (GRCm39) |
V246A |
probably benign |
Het |
| Abcc10 |
T |
C |
17: 46,615,361 (GRCm39) |
S1343G |
possibly damaging |
Het |
| Abcd3 |
C |
A |
3: 121,555,059 (GRCm39) |
|
probably null |
Het |
| Actl6a |
T |
A |
3: 32,774,642 (GRCm39) |
M335K |
probably damaging |
Het |
| Adamts9 |
A |
C |
6: 92,774,999 (GRCm39) |
C1090W |
probably damaging |
Het |
| Ajuba |
T |
C |
14: 54,807,855 (GRCm39) |
Y459C |
probably damaging |
Het |
| Aldh7a1 |
T |
A |
18: 56,667,325 (GRCm39) |
N316Y |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,639,340 (GRCm39) |
|
probably benign |
Het |
| Apeh |
A |
T |
9: 107,963,662 (GRCm39) |
L551H |
probably damaging |
Het |
| Avpr1a |
T |
A |
10: 122,285,274 (GRCm39) |
F189I |
probably damaging |
Het |
| BC034090 |
T |
A |
1: 155,117,773 (GRCm39) |
H115L |
possibly damaging |
Het |
| C4b |
A |
T |
17: 34,956,635 (GRCm39) |
D654E |
possibly damaging |
Het |
| Carns1 |
T |
A |
19: 4,221,900 (GRCm39) |
|
probably null |
Het |
| Ccdc146 |
T |
A |
5: 21,513,711 (GRCm39) |
E469V |
probably benign |
Het |
| Cdc27 |
A |
G |
11: 104,397,966 (GRCm39) |
I804T |
probably benign |
Het |
| Cdh23 |
G |
A |
10: 60,173,541 (GRCm39) |
T1651I |
probably damaging |
Het |
| Cenpo |
G |
A |
12: 4,266,646 (GRCm39) |
P154L |
probably damaging |
Het |
| Cenpu |
G |
A |
8: 47,015,534 (GRCm39) |
G150R |
probably benign |
Het |
| Chrna10 |
C |
A |
7: 101,763,560 (GRCm39) |
L78F |
probably damaging |
Het |
| Chrne |
A |
T |
11: 70,505,913 (GRCm39) |
N457K |
possibly damaging |
Het |
| Cidea |
A |
T |
18: 67,493,236 (GRCm39) |
D85V |
probably damaging |
Het |
| Cldn18 |
T |
C |
9: 99,591,911 (GRCm39) |
S31G |
possibly damaging |
Het |
| Clpb |
T |
A |
7: 101,428,548 (GRCm39) |
I436N |
probably damaging |
Het |
| Col11a2 |
T |
C |
17: 34,278,148 (GRCm39) |
|
probably null |
Het |
| Cul7 |
T |
C |
17: 46,965,403 (GRCm39) |
V527A |
probably benign |
Het |
| Dchs1 |
A |
C |
7: 105,407,236 (GRCm39) |
V2119G |
probably damaging |
Het |
| Dchs1 |
T |
A |
7: 105,421,262 (GRCm39) |
D386V |
probably damaging |
Het |
| Dcstamp |
A |
C |
15: 39,622,715 (GRCm39) |
Q345H |
probably damaging |
Het |
| Dlgap3 |
A |
G |
4: 127,130,123 (GRCm39) |
I955V |
probably damaging |
Het |
| Dvl1 |
A |
G |
4: 155,938,143 (GRCm39) |
D97G |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,016,791 (GRCm39) |
D3573G |
probably damaging |
Het |
| Efr3b |
G |
T |
12: 4,033,419 (GRCm39) |
F129L |
probably benign |
Het |
| Etaa1 |
G |
A |
11: 17,897,539 (GRCm39) |
L193F |
probably damaging |
Het |
| Fam13c |
G |
A |
10: 70,388,899 (GRCm39) |
S474N |
probably benign |
Het |
| Fam171a2 |
C |
A |
11: 102,328,693 (GRCm39) |
V689L |
possibly damaging |
Het |
| Fastkd3 |
T |
C |
13: 68,732,704 (GRCm39) |
F342L |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,050,095 (GRCm39) |
S3986P |
possibly damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,674,042 (GRCm39) |
M13T |
probably benign |
Het |
| Fbxo48 |
G |
T |
11: 16,904,329 (GRCm39) |
L160F |
possibly damaging |
Het |
| Fgr |
G |
A |
4: 132,713,664 (GRCm39) |
|
probably null |
Het |
| Gbx2 |
T |
C |
1: 89,856,635 (GRCm39) |
T252A |
probably damaging |
Het |
| Gm20671 |
A |
G |
5: 32,977,286 (GRCm39) |
S1823P |
probably damaging |
Het |
| Gpatch8 |
A |
T |
11: 102,399,053 (GRCm39) |
|
probably null |
Het |
| Gsdma |
A |
T |
11: 98,557,275 (GRCm39) |
|
probably null |
Het |
| Gucy2g |
G |
A |
19: 55,203,548 (GRCm39) |
A750V |
probably damaging |
Het |
| Hdac9 |
A |
G |
12: 34,479,557 (GRCm39) |
Y223H |
probably damaging |
Het |
| Igsf5 |
C |
A |
16: 96,192,226 (GRCm39) |
T275N |
probably benign |
Het |
| Il23r |
G |
A |
6: 67,463,275 (GRCm39) |
H73Y |
probably benign |
Het |
| Ipo4 |
G |
T |
14: 55,863,653 (GRCm39) |
R1026S |
probably benign |
Het |
| Jade1 |
T |
A |
3: 41,546,137 (GRCm39) |
I54N |
probably damaging |
Het |
| Khdrbs1 |
G |
T |
4: 129,635,729 (GRCm39) |
D75E |
possibly damaging |
Het |
| Lrwd1 |
A |
T |
5: 136,152,728 (GRCm39) |
D511E |
possibly damaging |
Het |
| Ly75 |
A |
T |
2: 60,164,831 (GRCm39) |
C782* |
probably null |
Het |
| Mmp3 |
C |
T |
9: 7,451,759 (GRCm39) |
R366* |
probably null |
Het |
| Mrgpra6 |
A |
G |
7: 46,838,629 (GRCm39) |
C190R |
probably damaging |
Het |
| Mtcl3 |
A |
G |
10: 29,072,766 (GRCm39) |
D686G |
probably benign |
Het |
| Myh10 |
T |
A |
11: 68,692,434 (GRCm39) |
L1369Q |
probably damaging |
Het |
| Myof |
C |
T |
19: 37,941,435 (GRCm39) |
A792T |
probably damaging |
Het |
| Ncf1 |
A |
G |
5: 134,250,659 (GRCm39) |
L373P |
probably damaging |
Het |
| Ncoa7 |
C |
A |
10: 30,598,813 (GRCm39) |
A37S |
probably benign |
Het |
| Nfkb1 |
A |
G |
3: 135,318,303 (GRCm39) |
V310A |
possibly damaging |
Het |
| Nmur2 |
T |
A |
11: 55,931,040 (GRCm39) |
I224F |
probably damaging |
Het |
| Nr1d2 |
A |
T |
14: 18,211,922 (GRCm38) |
S394T |
probably benign |
Het |
| Nudt12 |
A |
G |
17: 59,310,434 (GRCm39) |
W390R |
probably damaging |
Het |
| Or11g24 |
T |
A |
14: 50,662,846 (GRCm39) |
V290E |
possibly damaging |
Het |
| Or2m13 |
A |
G |
16: 19,226,547 (GRCm39) |
L73P |
probably damaging |
Het |
| Or4a79 |
T |
A |
2: 89,551,649 (GRCm39) |
I269F |
possibly damaging |
Het |
| Or4e1 |
T |
A |
14: 52,700,714 (GRCm39) |
T251S |
probably benign |
Het |
| Or52a20 |
T |
C |
7: 103,366,562 (GRCm39) |
F254L |
probably benign |
Het |
| Pate2 |
A |
G |
9: 35,581,837 (GRCm39) |
M44V |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,283,568 (GRCm39) |
L735S |
probably damaging |
Het |
| Plce1 |
C |
A |
19: 38,748,535 (GRCm39) |
N1755K |
probably damaging |
Het |
| Pld1 |
C |
A |
3: 28,079,469 (GRCm39) |
R90S |
probably damaging |
Het |
| Pnpla7 |
C |
A |
2: 24,931,031 (GRCm39) |
P882Q |
probably damaging |
Het |
| Pold2 |
A |
G |
11: 5,826,760 (GRCm39) |
L58P |
probably damaging |
Het |
| Ppm1d |
A |
G |
11: 85,202,609 (GRCm39) |
E104G |
probably damaging |
Het |
| Ppm1e |
A |
T |
11: 87,249,377 (GRCm39) |
L118Q |
possibly damaging |
Het |
| Ppp1r42 |
A |
G |
1: 10,069,660 (GRCm39) |
L134P |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,386,625 (GRCm39) |
D1038G |
probably damaging |
Het |
| Prss36 |
C |
A |
7: 127,535,871 (GRCm39) |
R288L |
probably damaging |
Het |
| Prss51 |
T |
A |
14: 64,334,543 (GRCm39) |
V108E |
probably damaging |
Het |
| Psma3 |
G |
T |
12: 71,021,539 (GRCm39) |
G7W |
probably damaging |
Het |
| Psmc3ip |
A |
T |
11: 100,983,430 (GRCm39) |
|
probably null |
Het |
| Qser1 |
T |
C |
2: 104,616,987 (GRCm39) |
E1275G |
probably damaging |
Het |
| Rai2 |
A |
G |
X: 160,561,636 (GRCm39) |
N363S |
probably benign |
Het |
| Ranbp17 |
A |
T |
11: 33,169,241 (GRCm39) |
V991D |
possibly damaging |
Het |
| Rcc2 |
A |
T |
4: 140,447,877 (GRCm39) |
K468* |
probably null |
Het |
| S1pr2 |
T |
C |
9: 20,878,890 (GRCm39) |
T313A |
probably benign |
Het |
| Sec1 |
C |
A |
7: 45,328,264 (GRCm39) |
R261L |
probably benign |
Het |
| Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Homo |
| Sgip1 |
G |
A |
4: 102,791,763 (GRCm39) |
V362I |
possibly damaging |
Het |
| Shroom4 |
T |
A |
X: 6,497,523 (GRCm39) |
C894* |
probably null |
Het |
| Slc12a9 |
A |
T |
5: 137,329,276 (GRCm39) |
L126Q |
probably damaging |
Het |
| Slx4 |
A |
G |
16: 3,808,669 (GRCm39) |
S424P |
probably damaging |
Het |
| Smg5 |
T |
C |
3: 88,258,600 (GRCm39) |
S524P |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 53,018,113 (GRCm39) |
D418G |
probably damaging |
Het |
| Spata31d1b |
C |
A |
13: 59,866,032 (GRCm39) |
T1060K |
possibly damaging |
Het |
| Spink6 |
A |
G |
18: 44,215,347 (GRCm39) |
T66A |
probably damaging |
Het |
| Sppl2c |
T |
A |
11: 104,078,127 (GRCm39) |
I309K |
possibly damaging |
Het |
| Stk39 |
T |
A |
2: 68,240,383 (GRCm39) |
D116V |
probably damaging |
Het |
| Supv3l1 |
A |
T |
10: 62,266,375 (GRCm39) |
N600K |
possibly damaging |
Het |
| Svep1 |
T |
C |
4: 58,104,545 (GRCm39) |
K1226R |
possibly damaging |
Het |
| Syne1 |
C |
T |
10: 4,991,494 (GRCm39) |
V557I |
probably benign |
Het |
| Tas2r117 |
G |
T |
6: 132,780,117 (GRCm39) |
S85I |
probably benign |
Het |
| Tcf20 |
T |
A |
15: 82,740,400 (GRCm39) |
Q350H |
probably damaging |
Het |
| Tep1 |
A |
T |
14: 51,105,774 (GRCm39) |
L82Q |
probably damaging |
Het |
| Tfb2m |
A |
C |
1: 179,373,437 (GRCm39) |
|
probably null |
Het |
| Tm9sf1 |
C |
T |
14: 55,880,301 (GRCm39) |
G32D |
possibly damaging |
Het |
| Tpd52 |
A |
T |
3: 8,996,255 (GRCm39) |
|
probably null |
Het |
| Trappc8 |
A |
T |
18: 20,966,119 (GRCm39) |
|
probably null |
Het |
| Trbv30 |
A |
G |
6: 41,258,854 (GRCm39) |
T88A |
probably benign |
Het |
| Trim40 |
T |
A |
17: 37,199,757 (GRCm39) |
N107I |
probably damaging |
Het |
| Trim80 |
A |
T |
11: 115,338,843 (GRCm39) |
T558S |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,708,692 (GRCm39) |
|
probably benign |
Het |
| Vav3 |
A |
G |
3: 109,434,791 (GRCm39) |
M441V |
possibly damaging |
Het |
| Vmn1r42 |
T |
A |
6: 89,822,366 (GRCm39) |
I68F |
probably damaging |
Het |
| Vmn2r118 |
C |
T |
17: 55,918,565 (GRCm39) |
G109D |
probably benign |
Het |
| Vmn2r5 |
T |
A |
3: 64,416,931 (GRCm39) |
M76L |
probably benign |
Het |
| Vwa7 |
G |
T |
17: 35,243,902 (GRCm39) |
|
probably null |
Het |
| Xndc1 |
T |
C |
7: 101,731,395 (GRCm39) |
V378A |
probably benign |
Het |
| Zc3h12d |
A |
T |
10: 7,729,014 (GRCm39) |
D126V |
probably damaging |
Het |
| Zc3h13 |
A |
G |
14: 75,581,059 (GRCm39) |
N1682S |
probably benign |
Het |
| Zc3h15 |
T |
C |
2: 83,490,574 (GRCm39) |
I236T |
possibly damaging |
Het |
| Zfp13 |
A |
T |
17: 23,800,156 (GRCm39) |
I34N |
probably damaging |
Het |
| Zfp169 |
A |
T |
13: 48,643,751 (GRCm39) |
C459S |
possibly damaging |
Het |
| Zfyve28 |
A |
G |
5: 34,374,311 (GRCm39) |
C568R |
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 |
|
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'- ATCTCGCTTTCTATTTGATTCTAGTG -3'
(R):5'- CCACATCAGGATTACAAGTTTCTATTA -3'
Sequencing Primer
(F):5'- GTCAGTCTTTAAAACTTAGCCT -3'
(R):5'- AAGCCAGACTGCCTATTGTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation