Incidental Mutation 'R7221:Ankar'
| ID |
561782 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankar
|
| Ensembl Gene |
ENSMUSG00000039342 |
| Gene Name |
ankyrin and armadillo repeat containing |
| Synonyms |
4932422E22Rik |
| MMRRC Submission |
045293-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R7221 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
72682139-72739738 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 72689390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 1247
(G1247D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053499]
[ENSMUST00000211837]
[ENSMUST00000212573]
|
| AlphaFold |
A2RT91 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053499
AA Change: G1247D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: G1247D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
484 |
496 |
N/A |
INTRINSIC |
|
ANK
|
532 |
561 |
1.25e2 |
SMART |
|
ANK
|
582 |
611 |
3.49e0 |
SMART |
|
ANK
|
615 |
644 |
4.44e2 |
SMART |
|
ANK
|
651 |
680 |
3.8e-1 |
SMART |
|
ANK
|
684 |
714 |
9.87e0 |
SMART |
|
ARM
|
744 |
784 |
5.96e-3 |
SMART |
|
ARM
|
785 |
825 |
4.09e0 |
SMART |
|
Blast:ARM
|
827 |
865 |
1e-15 |
BLAST |
|
ARM
|
867 |
907 |
8.34e0 |
SMART |
|
ARM
|
909 |
949 |
8.34e0 |
SMART |
|
Blast:ARM
|
951 |
991 |
2e-13 |
BLAST |
|
ARM
|
1034 |
1077 |
4.82e1 |
SMART |
|
ARM
|
1084 |
1123 |
1.3e1 |
SMART |
|
ARM
|
1257 |
1297 |
6.01e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211837
AA Change: G1246D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212573
AA Change: G1029D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (77/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
A |
G |
3: 59,836,354 (GRCm39) |
|
probably benign |
Het |
| Abr |
A |
C |
11: 76,313,987 (GRCm39) |
M720R |
probably benign |
Het |
| Acad10 |
G |
A |
5: 121,768,273 (GRCm39) |
T761M |
probably damaging |
Het |
| Agxt |
G |
T |
1: 93,065,623 (GRCm39) |
G164V |
possibly damaging |
Het |
| Bptf |
A |
C |
11: 106,945,658 (GRCm39) |
L2527R |
probably damaging |
Het |
| Brinp2 |
T |
C |
1: 158,094,117 (GRCm39) |
H195R |
possibly damaging |
Het |
| Cacna2d4 |
G |
T |
6: 119,213,624 (GRCm39) |
R14S |
probably benign |
Het |
| Cep126 |
A |
T |
9: 8,100,988 (GRCm39) |
C515* |
probably null |
Het |
| Chia1 |
A |
T |
3: 106,039,236 (GRCm39) |
N442I |
probably damaging |
Het |
| Clasp2 |
A |
G |
9: 113,681,825 (GRCm39) |
D327G |
probably damaging |
Het |
| Cnbd2 |
T |
C |
2: 156,215,581 (GRCm39) |
F519L |
probably benign |
Het |
| Cntrl |
T |
A |
2: 35,041,869 (GRCm39) |
F1214I |
possibly damaging |
Het |
| Cul9 |
A |
T |
17: 46,839,491 (GRCm39) |
M829K |
probably damaging |
Het |
| Cyp4b1 |
T |
C |
4: 115,493,175 (GRCm39) |
Q223R |
possibly damaging |
Het |
| Defb37 |
A |
T |
8: 19,040,988 (GRCm39) |
M1K |
probably null |
Het |
| Dnah7c |
A |
T |
1: 46,494,937 (GRCm39) |
Q55L |
possibly damaging |
Het |
| Efcab3 |
A |
G |
11: 104,791,432 (GRCm39) |
N2882S |
probably benign |
Het |
| Eif2b4 |
A |
T |
5: 31,345,131 (GRCm39) |
D463E |
possibly damaging |
Het |
| Elapor1 |
T |
G |
3: 108,382,317 (GRCm39) |
D232A |
possibly damaging |
Het |
| Elovl1 |
C |
T |
4: 118,288,811 (GRCm39) |
H167Y |
probably damaging |
Het |
| Emb |
T |
A |
13: 117,404,013 (GRCm39) |
L255Q |
probably damaging |
Het |
| Eogt |
T |
C |
6: 97,089,685 (GRCm39) |
Y465C |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,375,115 (GRCm39) |
H111R |
probably damaging |
Het |
| Fam234b |
T |
C |
6: 135,205,529 (GRCm39) |
F498S |
probably damaging |
Het |
| Fgfr3 |
GAGGCTGGCAGCGTGTACGCAGGC |
GAGGC |
5: 33,890,092 (GRCm39) |
|
probably null |
Het |
| Flrt3 |
T |
A |
2: 140,503,090 (GRCm39) |
E179D |
probably damaging |
Het |
| Fndc3a |
T |
C |
14: 72,793,597 (GRCm39) |
R993G |
probably benign |
Het |
| Gm14325 |
T |
C |
2: 177,476,403 (GRCm39) |
T14A |
probably damaging |
Het |
| Gm5464 |
T |
A |
14: 67,106,681 (GRCm39) |
V106D |
unknown |
Het |
| Gpatch11 |
T |
A |
17: 79,149,546 (GRCm39) |
I182N |
possibly damaging |
Het |
| Grm6 |
A |
G |
11: 50,753,870 (GRCm39) |
R725G |
probably damaging |
Het |
| Hap1 |
A |
T |
11: 100,239,655 (GRCm39) |
M588K |
probably benign |
Het |
| Icam2 |
A |
G |
11: 106,273,268 (GRCm39) |
F15L |
probably benign |
Het |
| Ints8 |
A |
G |
4: 11,225,613 (GRCm39) |
M648T |
probably benign |
Het |
| Ipo11 |
A |
T |
13: 107,029,065 (GRCm39) |
L296Q |
probably damaging |
Het |
| Kirrel1 |
G |
A |
3: 86,993,704 (GRCm39) |
Q518* |
probably null |
Het |
| Krt18 |
G |
T |
15: 101,937,967 (GRCm39) |
D155Y |
possibly damaging |
Het |
| Lctl |
A |
T |
9: 64,026,217 (GRCm39) |
K91* |
probably null |
Het |
| Marf1 |
C |
A |
16: 13,960,349 (GRCm39) |
R565L |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,178,921 (GRCm39) |
D1458E |
probably benign |
Het |
| Mroh8 |
T |
A |
2: 157,071,837 (GRCm39) |
Y556F |
probably benign |
Het |
| Muc16 |
C |
T |
9: 18,553,495 (GRCm39) |
G4266D |
probably benign |
Het |
| Nsrp1 |
A |
T |
11: 76,939,249 (GRCm39) |
F182I |
probably damaging |
Het |
| Obox3 |
A |
T |
7: 15,359,983 (GRCm39) |
Y229N |
probably benign |
Het |
| Or11h7 |
A |
T |
14: 50,891,528 (GRCm39) |
Y278F |
probably damaging |
Het |
| Or2b2 |
T |
C |
13: 21,887,272 (GRCm39) |
S34P |
probably damaging |
Het |
| Or2b4 |
A |
G |
17: 38,116,452 (GRCm39) |
K139E |
probably benign |
Het |
| Or4a74 |
T |
C |
2: 89,440,272 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or4c108 |
A |
G |
2: 88,803,497 (GRCm39) |
V246A |
probably damaging |
Het |
| Or4p22 |
T |
A |
2: 88,317,973 (GRCm39) |
V299D |
probably damaging |
Het |
| Or8d1 |
A |
G |
9: 38,766,538 (GRCm39) |
Y60C |
probably damaging |
Het |
| Pabpc2 |
T |
A |
18: 39,906,963 (GRCm39) |
V76D |
possibly damaging |
Het |
| Parp9 |
T |
C |
16: 35,774,071 (GRCm39) |
W348R |
probably benign |
Het |
| Pdp1 |
T |
C |
4: 11,961,004 (GRCm39) |
T455A |
probably damaging |
Het |
| Phactr2 |
A |
C |
10: 13,122,783 (GRCm39) |
D446E |
possibly damaging |
Het |
| Pi4kb |
T |
C |
3: 94,901,500 (GRCm39) |
L389P |
probably damaging |
Het |
| Pla2g4f |
C |
T |
2: 120,131,476 (GRCm39) |
R749H |
probably benign |
Het |
| Plec |
A |
G |
15: 76,059,974 (GRCm39) |
V3321A |
probably damaging |
Het |
| Plod2 |
T |
C |
9: 92,466,580 (GRCm39) |
V180A |
probably damaging |
Het |
| Plppr5 |
A |
G |
3: 117,414,618 (GRCm39) |
I80V |
probably damaging |
Het |
| Potefam3d |
T |
G |
8: 69,975,316 (GRCm39) |
D50A |
probably benign |
Het |
| Rubcn |
T |
C |
16: 32,687,293 (GRCm39) |
|
probably null |
Het |
| Sacs |
T |
C |
14: 61,446,255 (GRCm39) |
V2767A |
probably damaging |
Het |
| Selenbp2 |
C |
G |
3: 94,611,133 (GRCm39) |
Y414* |
probably null |
Het |
| Slc45a4 |
A |
T |
15: 73,458,259 (GRCm39) |
M430K |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,782,020 (GRCm39) |
L1145P |
possibly damaging |
Het |
| Spns2 |
A |
G |
11: 72,347,742 (GRCm39) |
V316A |
probably benign |
Het |
| Srl |
T |
A |
16: 4,300,811 (GRCm39) |
E753D |
probably damaging |
Het |
| Thada |
T |
C |
17: 84,771,794 (GRCm39) |
T23A |
possibly damaging |
Het |
| Tmem231 |
T |
C |
8: 112,660,308 (GRCm39) |
T31A |
probably benign |
Het |
| Tpr |
C |
T |
1: 150,321,929 (GRCm39) |
T2321M |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,772,195 (GRCm39) |
N2615I |
unknown |
Het |
| Vmn1r41 |
A |
G |
6: 89,724,034 (GRCm39) |
I192V |
probably benign |
Het |
| Vmn2r83 |
A |
T |
10: 79,316,001 (GRCm39) |
T466S |
probably benign |
Het |
| Vnn1 |
A |
G |
10: 23,770,952 (GRCm39) |
D60G |
probably benign |
Het |
| Wiz |
G |
A |
17: 32,578,139 (GRCm39) |
P449S |
probably benign |
Het |
| Zic1 |
A |
G |
9: 91,246,785 (GRCm39) |
S96P |
probably damaging |
Het |
| Zw10 |
T |
A |
9: 48,981,012 (GRCm39) |
S471T |
probably benign |
Het |
|
| Other mutations in Ankar |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00338:Ankar
|
APN |
1 |
72,729,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01013:Ankar
|
APN |
1 |
72,690,148 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01135:Ankar
|
APN |
1 |
72,704,378 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01824:Ankar
|
APN |
1 |
72,690,886 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL01885:Ankar
|
APN |
1 |
72,697,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01932:Ankar
|
APN |
1 |
72,738,146 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02143:Ankar
|
APN |
1 |
72,697,808 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02326:Ankar
|
APN |
1 |
72,705,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02445:Ankar
|
APN |
1 |
72,705,524 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02606:Ankar
|
APN |
1 |
72,729,444 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02635:Ankar
|
APN |
1 |
72,691,590 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02680:Ankar
|
APN |
1 |
72,709,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02704:Ankar
|
APN |
1 |
72,691,502 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03086:Ankar
|
APN |
1 |
72,682,437 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03269:Ankar
|
APN |
1 |
72,704,360 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03368:Ankar
|
APN |
1 |
72,714,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0050:Ankar
|
UTSW |
1 |
72,695,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0050:Ankar
|
UTSW |
1 |
72,695,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0488:Ankar
|
UTSW |
1 |
72,697,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0650:Ankar
|
UTSW |
1 |
72,695,380 (GRCm39) |
splice site |
probably benign |
|
|
R1121:Ankar
|
UTSW |
1 |
72,690,822 (GRCm39) |
splice site |
probably null |
|
|
R1163:Ankar
|
UTSW |
1 |
72,727,864 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1300:Ankar
|
UTSW |
1 |
72,682,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1309:Ankar
|
UTSW |
1 |
72,713,163 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1366:Ankar
|
UTSW |
1 |
72,737,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1456:Ankar
|
UTSW |
1 |
72,704,277 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1495:Ankar
|
UTSW |
1 |
72,682,450 (GRCm39) |
missense |
probably benign |
|
|
R1583:Ankar
|
UTSW |
1 |
72,718,714 (GRCm39) |
splice site |
probably benign |
|
|
R1635:Ankar
|
UTSW |
1 |
72,689,297 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1975:Ankar
|
UTSW |
1 |
72,697,600 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2036:Ankar
|
UTSW |
1 |
72,705,689 (GRCm39) |
nonsense |
probably null |
|
|
R2511:Ankar
|
UTSW |
1 |
72,697,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2965:Ankar
|
UTSW |
1 |
72,714,979 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3404:Ankar
|
UTSW |
1 |
72,682,252 (GRCm39) |
nonsense |
probably null |
|
|
R3417:Ankar
|
UTSW |
1 |
72,698,135 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4072:Ankar
|
UTSW |
1 |
72,727,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4231:Ankar
|
UTSW |
1 |
72,697,701 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4447:Ankar
|
UTSW |
1 |
72,726,948 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4632:Ankar
|
UTSW |
1 |
72,686,343 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4720:Ankar
|
UTSW |
1 |
72,738,170 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4754:Ankar
|
UTSW |
1 |
72,737,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4884:Ankar
|
UTSW |
1 |
72,737,966 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5068:Ankar
|
UTSW |
1 |
72,719,369 (GRCm39) |
splice site |
probably null |
|
|
R5069:Ankar
|
UTSW |
1 |
72,719,369 (GRCm39) |
splice site |
probably null |
|
|
R5070:Ankar
|
UTSW |
1 |
72,719,369 (GRCm39) |
splice site |
probably null |
|
|
R5189:Ankar
|
UTSW |
1 |
72,697,573 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5247:Ankar
|
UTSW |
1 |
72,719,343 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5322:Ankar
|
UTSW |
1 |
72,729,545 (GRCm39) |
splice site |
probably null |
|
|
R5345:Ankar
|
UTSW |
1 |
72,709,310 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5864:Ankar
|
UTSW |
1 |
72,698,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5976:Ankar
|
UTSW |
1 |
72,682,450 (GRCm39) |
missense |
probably benign |
|
|
R6003:Ankar
|
UTSW |
1 |
72,738,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6042:Ankar
|
UTSW |
1 |
72,713,213 (GRCm39) |
nonsense |
probably null |
|
|
R6296:Ankar
|
UTSW |
1 |
72,682,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6488:Ankar
|
UTSW |
1 |
72,720,967 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6885:Ankar
|
UTSW |
1 |
72,682,195 (GRCm39) |
missense |
unknown |
|
|
R6985:Ankar
|
UTSW |
1 |
72,697,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7060:Ankar
|
UTSW |
1 |
72,695,272 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7099:Ankar
|
UTSW |
1 |
72,682,452 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7194:Ankar
|
UTSW |
1 |
72,698,192 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7222:Ankar
|
UTSW |
1 |
72,705,514 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7258:Ankar
|
UTSW |
1 |
72,690,886 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7303:Ankar
|
UTSW |
1 |
72,698,192 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7308:Ankar
|
UTSW |
1 |
72,690,953 (GRCm39) |
nonsense |
probably null |
|
|
R7384:Ankar
|
UTSW |
1 |
72,697,624 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7424:Ankar
|
UTSW |
1 |
72,719,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7464:Ankar
|
UTSW |
1 |
72,738,053 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7525:Ankar
|
UTSW |
1 |
72,727,800 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7618:Ankar
|
UTSW |
1 |
72,714,925 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7659:Ankar
|
UTSW |
1 |
72,729,294 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7974:Ankar
|
UTSW |
1 |
72,738,138 (GRCm39) |
nonsense |
probably null |
|
|
R8008:Ankar
|
UTSW |
1 |
72,705,643 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8119:Ankar
|
UTSW |
1 |
72,686,160 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8244:Ankar
|
UTSW |
1 |
72,690,183 (GRCm39) |
missense |
probably benign |
|
|
R8342:Ankar
|
UTSW |
1 |
72,691,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8494:Ankar
|
UTSW |
1 |
72,697,953 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8851:Ankar
|
UTSW |
1 |
72,691,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8970:Ankar
|
UTSW |
1 |
72,691,496 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9228:Ankar
|
UTSW |
1 |
72,713,210 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9511:Ankar
|
UTSW |
1 |
72,719,161 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9577:Ankar
|
UTSW |
1 |
72,721,067 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9612:Ankar
|
UTSW |
1 |
72,704,294 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9647:Ankar
|
UTSW |
1 |
72,689,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9803:Ankar
|
UTSW |
1 |
72,698,340 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Z1176:Ankar
|
UTSW |
1 |
72,729,120 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTACTGTTTGCAGCACTTTC -3'
(R):5'- TACAGAAATGCAATCAACTACAGGG -3'
Sequencing Primer
(F):5'- GCTGGTCTCGAACTCAGAAATCTG -3'
(R):5'- TCAACTACAGGGAACAATTATCCTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation