Incidental Mutation 'R7525:Ankar'
ID |
582892 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankar
|
Ensembl Gene |
ENSMUSG00000039342 |
Gene Name |
ankyrin and armadillo repeat containing |
Synonyms |
4932422E22Rik |
MMRRC Submission |
045597-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R7525 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
72682139-72739738 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72727800 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 371
(D371G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054056
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053499]
[ENSMUST00000211837]
[ENSMUST00000212573]
[ENSMUST00000212710]
|
AlphaFold |
A2RT91 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053499
AA Change: D371G
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000054056 Gene: ENSMUSG00000039342 AA Change: D371G
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 benign
Transcript: ENSMUST00000211837
AA Change: D371G
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212573
AA Change: D153G
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212710
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (63/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
T |
C |
5: 113,331,221 (GRCm39) |
T998A |
probably damaging |
Het |
Aadacl4fm2 |
A |
G |
4: 144,291,580 (GRCm39) |
F42S |
probably damaging |
Het |
Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
Akt3 |
T |
A |
1: 176,847,673 (GRCm39) |
K465* |
probably null |
Het |
Ankib1 |
T |
G |
5: 3,805,734 (GRCm39) |
N178H |
possibly damaging |
Het |
Arhgap10 |
A |
G |
8: 78,146,699 (GRCm39) |
|
probably null |
Het |
Arhgef4 |
A |
G |
1: 34,848,785 (GRCm39) |
D286G |
probably damaging |
Het |
Bsdc1 |
A |
T |
4: 129,355,477 (GRCm39) |
|
probably benign |
Het |
Camk4 |
T |
C |
18: 33,318,085 (GRCm39) |
V414A |
probably benign |
Het |
Cyp2d9 |
T |
A |
15: 82,338,293 (GRCm39) |
V139E |
possibly damaging |
Het |
Dhrs13 |
C |
A |
11: 77,923,260 (GRCm39) |
N21K |
unknown |
Het |
Dop1a |
C |
T |
9: 86,388,343 (GRCm39) |
A439V |
probably damaging |
Het |
Dpy19l4 |
G |
A |
4: 11,317,160 (GRCm39) |
Q13* |
probably null |
Het |
Ecpas |
A |
G |
4: 58,847,038 (GRCm39) |
I508T |
possibly damaging |
Het |
Eif2ak1 |
T |
C |
5: 143,823,716 (GRCm39) |
S388P |
probably damaging |
Het |
Emilin2 |
T |
C |
17: 71,581,974 (GRCm39) |
S251G |
probably benign |
Het |
Eml4 |
T |
A |
17: 83,753,379 (GRCm39) |
L350Q |
probably damaging |
Het |
Fblim1 |
A |
T |
4: 141,317,391 (GRCm39) |
L98H |
probably damaging |
Het |
Fcrl6 |
T |
A |
1: 172,425,239 (GRCm39) |
N264I |
probably benign |
Het |
Gzme |
A |
C |
14: 56,356,790 (GRCm39) |
D57E |
probably benign |
Het |
H2-D1 |
A |
G |
17: 35,484,909 (GRCm39) |
T257A |
probably damaging |
Het |
Hectd4 |
C |
A |
5: 121,481,728 (GRCm39) |
D3092E |
possibly damaging |
Het |
Hrc |
A |
G |
7: 44,985,803 (GRCm39) |
E318G |
probably benign |
Het |
Hspbp1 |
A |
G |
7: 4,666,435 (GRCm39) |
L315P |
probably damaging |
Het |
Insr |
A |
T |
8: 3,242,642 (GRCm39) |
Y591N |
probably damaging |
Het |
Lrch4 |
T |
A |
5: 137,637,727 (GRCm39) |
I582N |
probably damaging |
Het |
Lrit2 |
A |
G |
14: 36,794,450 (GRCm39) |
K505E |
possibly damaging |
Het |
Lrp1b |
A |
T |
2: 40,547,428 (GRCm39) |
N4251K |
|
Het |
Mfsd13a |
T |
C |
19: 46,357,716 (GRCm39) |
F290S |
probably damaging |
Het |
Mgam |
T |
G |
6: 40,742,954 (GRCm39) |
N1791K |
probably benign |
Het |
Mroh7 |
A |
T |
4: 106,566,899 (GRCm39) |
I450N |
probably benign |
Het |
Mylk |
G |
A |
16: 34,809,357 (GRCm39) |
M1771I |
probably benign |
Het |
Or10ak12 |
A |
T |
4: 118,666,691 (GRCm39) |
F123L |
probably damaging |
Het |
Or51aa2 |
A |
T |
7: 103,188,338 (GRCm39) |
C34* |
probably null |
Het |
Or8d1 |
A |
T |
9: 38,766,534 (GRCm39) |
M59L |
possibly damaging |
Het |
Or8g55 |
T |
A |
9: 39,785,435 (GRCm39) |
L288* |
probably null |
Het |
Parp14 |
A |
T |
16: 35,677,861 (GRCm39) |
H702Q |
probably benign |
Het |
Pcdhga1 |
T |
C |
18: 37,795,281 (GRCm39) |
L95P |
probably damaging |
Het |
Pcsk5 |
T |
C |
19: 17,619,954 (GRCm39) |
T373A |
probably damaging |
Het |
Pdzph1 |
A |
G |
17: 59,274,336 (GRCm39) |
V836A |
possibly damaging |
Het |
Pgap1 |
T |
A |
1: 54,570,081 (GRCm39) |
N322I |
probably benign |
Het |
Pikfyve |
C |
T |
1: 65,283,585 (GRCm39) |
R741* |
probably null |
Het |
Pip4k2c |
A |
G |
10: 127,044,773 (GRCm39) |
S80P |
probably damaging |
Het |
Plekhh3 |
A |
G |
11: 101,057,445 (GRCm39) |
F271L |
probably damaging |
Het |
Prkdc |
A |
T |
16: 15,490,191 (GRCm39) |
Y565F |
probably damaging |
Het |
Prom2 |
T |
C |
2: 127,374,701 (GRCm39) |
R612G |
probably benign |
Het |
Psap |
T |
C |
10: 60,135,253 (GRCm39) |
V303A |
probably benign |
Het |
Ptch1 |
C |
T |
13: 63,659,528 (GRCm39) |
R1375H |
probably benign |
Het |
Slc24a3 |
A |
C |
2: 145,455,450 (GRCm39) |
K446N |
probably benign |
Het |
Slc39a12 |
T |
A |
2: 14,499,272 (GRCm39) |
M661K |
probably benign |
Het |
Slc6a16 |
T |
C |
7: 44,908,537 (GRCm39) |
L39P |
probably benign |
Het |
Syne1 |
T |
G |
10: 5,135,559 (GRCm39) |
|
probably null |
Het |
Taar8c |
T |
C |
10: 23,977,764 (GRCm39) |
N16S |
probably benign |
Het |
Tmem98 |
A |
G |
11: 80,708,344 (GRCm39) |
T105A |
probably damaging |
Het |
Tmub1 |
T |
A |
5: 24,651,011 (GRCm39) |
Y216F |
probably damaging |
Het |
Trim16 |
T |
G |
11: 62,711,580 (GRCm39) |
C84G |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,561,573 (GRCm39) |
K28978* |
probably null |
Het |
Usp38 |
A |
G |
8: 81,740,875 (GRCm39) |
V64A |
probably damaging |
Het |
Vmn2r63 |
A |
T |
7: 42,576,406 (GRCm39) |
F469Y |
possibly damaging |
Het |
Vmn2r74 |
A |
G |
7: 85,610,510 (GRCm39) |
W61R |
probably benign |
Het |
Whamm |
G |
T |
7: 81,243,598 (GRCm39) |
G607C |
probably damaging |
Het |
Xkr6 |
G |
T |
14: 64,056,610 (GRCm39) |
V430F |
probably benign |
Het |
Zfp398 |
A |
G |
6: 47,842,752 (GRCm39) |
D268G |
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 |
R7221:Ankar
|
UTSW |
1 |
72,689,390 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- ACCAACAGAAGCTCTCAGTG -3'
(R):5'- CTGAGTATAGCCTCTAGTGCCAC -3'
Sequencing Primer
(F):5'- CAGAAGCTCTCAGTGAAAACTTAC -3'
(R):5'- GTATAGCCTCTAGTGCCACAAGTG -3'
|
Posted On |
2019-10-17 |