Incidental Mutation 'R9647:Ankar'
| ID |
726759 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankar
|
| Ensembl Gene |
ENSMUSG00000039342 |
| Gene Name |
ankyrin and armadillo repeat containing |
| Synonyms |
4932422E22Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R9647 (G1)
|
| Quality Score |
191.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
72642980-72700579 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72650148 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 1275
(Y1275H)
|
| 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: Y1275H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: Y1275H
| 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: Y1274H
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212573
AA Change: Y1057H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700015G11Rik |
G |
T |
7: 52,013,563 (GRCm38) |
Y38* |
probably null |
Het |
| 6430573F11Rik |
T |
C |
8: 36,512,056 (GRCm38) |
I271T |
probably benign |
Het |
| Abcc5 |
C |
A |
16: 20,376,560 (GRCm38) |
R729L |
probably benign |
Het |
| Actr3b |
T |
C |
5: 25,832,410 (GRCm38) |
S295P |
probably benign |
Het |
| Alb |
G |
A |
5: 90,472,685 (GRCm38) |
|
probably null |
Het |
| Ank2 |
T |
A |
3: 126,998,974 (GRCm38) |
N756I |
possibly damaging |
Het |
| Ankrd11 |
C |
T |
8: 122,890,943 (GRCm38) |
A2057T |
probably benign |
Het |
| BC030867 |
A |
T |
11: 102,255,760 (GRCm38) |
Q287H |
possibly damaging |
Het |
| Birc6 |
G |
A |
17: 74,692,310 (GRCm38) |
V4678M |
probably damaging |
Het |
| Bmpr1a |
A |
G |
14: 34,414,737 (GRCm38) |
V499A |
probably benign |
Het |
| Ccdc142 |
A |
G |
6: 83,102,278 (GRCm38) |
N199D |
probably benign |
Het |
| Cdhr2 |
A |
T |
13: 54,719,581 (GRCm38) |
M438L |
probably benign |
Het |
| Cfap74 |
A |
T |
4: 155,464,916 (GRCm38) |
Q78L |
unknown |
Het |
| Crocc |
A |
T |
4: 141,047,024 (GRCm38) |
S155T |
probably benign |
Het |
| Depdc5 |
T |
A |
5: 32,924,223 (GRCm38) |
H576Q |
possibly damaging |
Het |
| Dhx30 |
A |
T |
9: 110,093,146 (GRCm38) |
L156Q |
probably damaging |
Het |
| Dido1 |
T |
A |
2: 180,673,275 (GRCm38) |
T795S |
probably benign |
Het |
| Dlx1 |
T |
C |
2: 71,530,132 (GRCm38) |
S47P |
probably benign |
Het |
| Dspp |
G |
A |
5: 104,175,770 (GRCm38) |
A260T |
possibly damaging |
Het |
| Ephx2 |
T |
C |
14: 66,089,508 (GRCm38) |
T413A |
probably benign |
Het |
| Erp44 |
A |
C |
4: 48,205,166 (GRCm38) |
L276V |
probably benign |
Het |
| Fam104a |
T |
C |
11: 113,677,320 (GRCm38) |
D103G |
probably damaging |
Het |
| Fastkd5 |
T |
A |
2: 130,615,809 (GRCm38) |
Q287L |
probably damaging |
Het |
| Foxh1 |
T |
A |
15: 76,669,260 (GRCm38) |
H114L |
possibly damaging |
Het |
| Fry |
A |
T |
5: 150,369,519 (GRCm38) |
L410F |
probably damaging |
Het |
| Gamt |
T |
A |
10: 80,259,838 (GRCm38) |
H86L |
probably damaging |
Het |
| Gdpd5 |
G |
T |
7: 99,455,034 (GRCm38) |
R483L |
probably benign |
Het |
| Gm17067 |
A |
C |
7: 42,708,145 (GRCm38) |
V311G |
probably benign |
Het |
| Gm9268 |
T |
C |
7: 43,047,747 (GRCm38) |
C743R |
probably damaging |
Het |
| Gpatch2 |
C |
T |
1: 187,322,345 (GRCm38) |
T422I |
probably damaging |
Het |
| Gpi1 |
A |
G |
7: 34,202,454 (GRCm38) |
I546T |
probably damaging |
Het |
| Gyg |
A |
C |
3: 20,122,843 (GRCm38) |
S328A |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,426,798 (GRCm38) |
V1491E |
probably benign |
Het |
| Ildr2 |
T |
C |
1: 166,309,469 (GRCm38) |
S626P |
probably benign |
Het |
| Insr |
T |
G |
8: 3,155,874 (GRCm38) |
E1305A |
probably benign |
Het |
| Iqca |
T |
A |
1: 90,070,536 (GRCm38) |
T572S |
probably benign |
Het |
| Kdm4a |
T |
A |
4: 118,160,202 (GRCm38) |
T556S |
probably benign |
Het |
| Kdm4a |
A |
T |
4: 118,146,593 (GRCm38) |
M762K |
probably benign |
Het |
| Lama1 |
A |
G |
17: 67,717,175 (GRCm38) |
I89M |
|
Het |
| Larp7 |
T |
C |
3: 127,540,562 (GRCm38) |
K539E |
probably damaging |
Het |
| Mmadhc |
C |
A |
2: 50,296,470 (GRCm38) |
|
probably benign |
Het |
| Mmp2 |
A |
G |
8: 92,840,486 (GRCm38) |
D478G |
probably damaging |
Het |
| Nat10 |
T |
C |
2: 103,748,193 (GRCm38) |
Q222R |
probably benign |
Het |
| Nlgn1 |
A |
T |
3: 25,434,018 (GRCm38) |
Y718N |
probably damaging |
Het |
| Nlrp5 |
A |
T |
7: 23,408,151 (GRCm38) |
E83V |
probably benign |
Het |
| Odc1 |
T |
C |
12: 17,548,613 (GRCm38) |
V218A |
possibly damaging |
Het |
| Olfr120 |
A |
T |
17: 37,726,905 (GRCm38) |
I294F |
probably damaging |
Het |
| Olfr742 |
G |
C |
14: 50,516,095 (GRCm38) |
R297T |
probably damaging |
Het |
| Olfr823 |
A |
G |
10: 130,112,160 (GRCm38) |
I210T |
probably damaging |
Het |
| Oxsr1 |
G |
A |
9: 119,254,866 (GRCm38) |
S324F |
probably damaging |
Het |
| Pclo |
C |
T |
5: 14,681,774 (GRCm38) |
T304M |
|
Het |
| Pgghg |
A |
G |
7: 140,946,830 (GRCm38) |
R687G |
possibly damaging |
Het |
| Plxna4 |
A |
G |
6: 32,251,109 (GRCm38) |
S521P |
probably damaging |
Het |
| Rasgrp4 |
A |
G |
7: 29,140,492 (GRCm38) |
S172G |
probably damaging |
Het |
| Rora |
A |
G |
9: 69,348,168 (GRCm38) |
D78G |
probably damaging |
Het |
| Sec1 |
G |
T |
7: 45,679,132 (GRCm38) |
R164S |
probably benign |
Het |
| Sesn3 |
A |
G |
9: 14,314,703 (GRCm38) |
N245D |
probably benign |
Het |
| Slc44a5 |
T |
A |
3: 154,247,733 (GRCm38) |
W251R |
possibly damaging |
Het |
| Ssr2 |
T |
C |
3: 88,579,899 (GRCm38) |
V7A |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,105,101 (GRCm38) |
D1912G |
possibly damaging |
Het |
| Tcea2 |
C |
A |
2: 181,681,191 (GRCm38) |
T1N |
probably benign |
Het |
| Tmem131l |
T |
C |
3: 83,928,711 (GRCm38) |
Y697C |
probably damaging |
Het |
| Tmx4 |
T |
C |
2: 134,639,668 (GRCm38) |
M112V |
probably benign |
Het |
| Tom1 |
G |
T |
8: 75,058,867 (GRCm38) |
A330S |
probably benign |
Het |
| Trip4 |
A |
T |
9: 65,858,334 (GRCm38) |
L361* |
probably null |
Het |
| Trp73 |
T |
G |
4: 154,081,331 (GRCm38) |
T142P |
probably damaging |
Het |
| Trpm5 |
T |
A |
7: 143,080,761 (GRCm38) |
D683V |
possibly damaging |
Het |
| Trpm7 |
T |
C |
2: 126,825,642 (GRCm38) |
I810V |
probably damaging |
Het |
| Trps1 |
A |
T |
15: 50,661,548 (GRCm38) |
S995R |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,777,925 (GRCm38) |
E17885* |
probably null |
Het |
| Uggt2 |
A |
T |
14: 119,018,900 (GRCm38) |
Y1120N |
probably damaging |
Het |
| Unc13a |
A |
T |
8: 71,652,238 (GRCm38) |
N793K |
probably damaging |
Het |
| Vmn2r94 |
T |
C |
17: 18,243,622 (GRCm38) |
H802R |
probably benign |
Het |
| Zdhhc5 |
A |
T |
2: 84,694,406 (GRCm38) |
M190K |
probably benign |
Het |
| Zfp719 |
A |
T |
7: 43,584,178 (GRCm38) |
N7I |
possibly damaging |
Het |
| Zfp735 |
A |
G |
11: 73,689,774 (GRCm38) |
Y33C |
probably damaging |
Het |
| Zgrf1 |
C |
T |
3: 127,561,602 (GRCm38) |
T159I |
probably benign |
Het |
| Zzef1 |
A |
T |
11: 72,869,825 (GRCm38) |
T1325S |
probably benign |
Het |
|
| Other mutations in Ankar |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00338:Ankar
|
APN |
1 |
72,690,131 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01013:Ankar
|
APN |
1 |
72,650,989 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL01135:Ankar
|
APN |
1 |
72,665,219 (GRCm38) |
missense |
probably benign |
0.28 |
|
IGL01824:Ankar
|
APN |
1 |
72,651,727 (GRCm38) |
missense |
probably benign |
0.40 |
|
IGL01885:Ankar
|
APN |
1 |
72,658,703 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01932:Ankar
|
APN |
1 |
72,698,987 (GRCm38) |
missense |
probably benign |
0.25 |
|
IGL02143:Ankar
|
APN |
1 |
72,658,649 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02326:Ankar
|
APN |
1 |
72,666,355 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02445:Ankar
|
APN |
1 |
72,666,365 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL02606:Ankar
|
APN |
1 |
72,690,285 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
IGL02635:Ankar
|
APN |
1 |
72,652,431 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02680:Ankar
|
APN |
1 |
72,670,116 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02704:Ankar
|
APN |
1 |
72,652,343 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL03086:Ankar
|
APN |
1 |
72,643,278 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
IGL03269:Ankar
|
APN |
1 |
72,665,201 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03368:Ankar
|
APN |
1 |
72,675,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0050:Ankar
|
UTSW |
1 |
72,656,164 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0050:Ankar
|
UTSW |
1 |
72,656,164 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0488:Ankar
|
UTSW |
1 |
72,658,732 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0650:Ankar
|
UTSW |
1 |
72,656,221 (GRCm38) |
splice site |
probably benign |
|
|
R1121:Ankar
|
UTSW |
1 |
72,651,663 (GRCm38) |
splice site |
probably null |
|
|
R1163:Ankar
|
UTSW |
1 |
72,688,705 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1300:Ankar
|
UTSW |
1 |
72,643,164 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1309:Ankar
|
UTSW |
1 |
72,674,004 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R1366:Ankar
|
UTSW |
1 |
72,698,649 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1456:Ankar
|
UTSW |
1 |
72,665,118 (GRCm38) |
missense |
probably benign |
0.34 |
|
R1495:Ankar
|
UTSW |
1 |
72,643,291 (GRCm38) |
missense |
probably benign |
|
|
R1583:Ankar
|
UTSW |
1 |
72,679,555 (GRCm38) |
splice site |
probably benign |
|
|
R1635:Ankar
|
UTSW |
1 |
72,650,138 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1975:Ankar
|
UTSW |
1 |
72,658,441 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2036:Ankar
|
UTSW |
1 |
72,666,530 (GRCm38) |
nonsense |
probably null |
|
|
R2511:Ankar
|
UTSW |
1 |
72,658,694 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2965:Ankar
|
UTSW |
1 |
72,675,820 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3404:Ankar
|
UTSW |
1 |
72,643,093 (GRCm38) |
nonsense |
probably null |
|
|
R3417:Ankar
|
UTSW |
1 |
72,658,976 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4072:Ankar
|
UTSW |
1 |
72,688,592 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4231:Ankar
|
UTSW |
1 |
72,658,542 (GRCm38) |
missense |
probably benign |
0.23 |
|
R4447:Ankar
|
UTSW |
1 |
72,687,789 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R4632:Ankar
|
UTSW |
1 |
72,647,184 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4720:Ankar
|
UTSW |
1 |
72,699,011 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R4754:Ankar
|
UTSW |
1 |
72,698,694 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4884:Ankar
|
UTSW |
1 |
72,698,807 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5068:Ankar
|
UTSW |
1 |
72,680,210 (GRCm38) |
splice site |
probably null |
|
|
R5069:Ankar
|
UTSW |
1 |
72,680,210 (GRCm38) |
splice site |
probably null |
|
|
R5070:Ankar
|
UTSW |
1 |
72,680,210 (GRCm38) |
splice site |
probably null |
|
|
R5189:Ankar
|
UTSW |
1 |
72,658,414 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5247:Ankar
|
UTSW |
1 |
72,680,184 (GRCm38) |
missense |
probably benign |
0.08 |
|
R5322:Ankar
|
UTSW |
1 |
72,690,386 (GRCm38) |
splice site |
probably null |
|
|
R5345:Ankar
|
UTSW |
1 |
72,670,151 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5864:Ankar
|
UTSW |
1 |
72,659,165 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5976:Ankar
|
UTSW |
1 |
72,643,291 (GRCm38) |
missense |
probably benign |
|
|
R6003:Ankar
|
UTSW |
1 |
72,698,887 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6042:Ankar
|
UTSW |
1 |
72,674,054 (GRCm38) |
nonsense |
probably null |
|
|
R6296:Ankar
|
UTSW |
1 |
72,643,258 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6488:Ankar
|
UTSW |
1 |
72,681,808 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6885:Ankar
|
UTSW |
1 |
72,643,036 (GRCm38) |
missense |
unknown |
|
|
R6985:Ankar
|
UTSW |
1 |
72,658,482 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7060:Ankar
|
UTSW |
1 |
72,656,113 (GRCm38) |
missense |
probably benign |
0.18 |
|
R7099:Ankar
|
UTSW |
1 |
72,643,293 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7194:Ankar
|
UTSW |
1 |
72,659,033 (GRCm38) |
missense |
probably benign |
0.32 |
|
R7221:Ankar
|
UTSW |
1 |
72,650,231 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7222:Ankar
|
UTSW |
1 |
72,666,355 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7258:Ankar
|
UTSW |
1 |
72,651,727 (GRCm38) |
missense |
probably benign |
0.40 |
|
R7303:Ankar
|
UTSW |
1 |
72,659,033 (GRCm38) |
missense |
probably benign |
0.32 |
|
R7308:Ankar
|
UTSW |
1 |
72,651,794 (GRCm38) |
nonsense |
probably null |
|
|
R7384:Ankar
|
UTSW |
1 |
72,658,465 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7424:Ankar
|
UTSW |
1 |
72,680,058 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7464:Ankar
|
UTSW |
1 |
72,698,894 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7525:Ankar
|
UTSW |
1 |
72,688,641 (GRCm38) |
missense |
probably benign |
0.18 |
|
R7618:Ankar
|
UTSW |
1 |
72,675,766 (GRCm38) |
missense |
probably benign |
0.22 |
|
R7659:Ankar
|
UTSW |
1 |
72,690,135 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7974:Ankar
|
UTSW |
1 |
72,698,979 (GRCm38) |
nonsense |
probably null |
|
|
R8008:Ankar
|
UTSW |
1 |
72,666,484 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R8119:Ankar
|
UTSW |
1 |
72,647,001 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8244:Ankar
|
UTSW |
1 |
72,651,024 (GRCm38) |
missense |
probably benign |
|
|
R8342:Ankar
|
UTSW |
1 |
72,652,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8494:Ankar
|
UTSW |
1 |
72,658,794 (GRCm38) |
missense |
probably benign |
0.16 |
|
R8851:Ankar
|
UTSW |
1 |
72,652,376 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8970:Ankar
|
UTSW |
1 |
72,652,337 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9228:Ankar
|
UTSW |
1 |
72,674,051 (GRCm38) |
missense |
probably benign |
0.27 |
|
R9511:Ankar
|
UTSW |
1 |
72,680,002 (GRCm38) |
missense |
probably benign |
0.23 |
|
R9577:Ankar
|
UTSW |
1 |
72,681,908 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9612:Ankar
|
UTSW |
1 |
72,665,135 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R9803:Ankar
|
UTSW |
1 |
72,659,181 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
Z1176:Ankar
|
UTSW |
1 |
72,689,961 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACTTTCCGTTTTACAAATAGCC -3'
(R):5'- AACTACAGGGAACAATTATCCTGC -3'
Sequencing Primer
(F):5'- TTTCGAGACAGGGTTTCTCTG -3'
(R):5'- CAGGGAACAATTATCCTGCATTTAC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation