Incidental Mutation 'R7099:Ankar'
ID |
550678 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankar
|
Ensembl Gene |
ENSMUSG00000039342 |
Gene Name |
ankyrin and armadillo repeat containing |
Synonyms |
4932422E22Rik |
MMRRC Submission |
045191-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R7099 (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 72682452 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 1371
(K1371R)
|
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: K1371R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000054056 Gene: ENSMUSG00000039342 AA Change: K1371R
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: K1370R
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212573
AA Change: K1153R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (65/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930453N24Rik |
C |
T |
16: 64,591,151 (GRCm39) |
A26T |
probably benign |
Het |
Acly |
T |
C |
11: 100,383,117 (GRCm39) |
|
probably null |
Het |
Adam29 |
A |
C |
8: 56,324,439 (GRCm39) |
L672V |
probably benign |
Het |
Adgrf1 |
T |
C |
17: 43,621,493 (GRCm39) |
S577P |
probably benign |
Het |
Arid5b |
T |
C |
10: 67,934,009 (GRCm39) |
D631G |
probably damaging |
Het |
Brpf3 |
T |
C |
17: 29,025,611 (GRCm39) |
V228A |
probably benign |
Het |
C3 |
T |
C |
17: 57,513,276 (GRCm39) |
D1457G |
probably benign |
Het |
Calr4 |
A |
T |
4: 109,099,426 (GRCm39) |
N143I |
probably benign |
Het |
Catsperd |
T |
G |
17: 56,935,811 (GRCm39) |
|
probably null |
Het |
Cobl |
T |
A |
11: 12,246,540 (GRCm39) |
H154L |
|
Het |
Cryzl2 |
G |
A |
1: 157,316,154 (GRCm39) |
|
probably benign |
Het |
Dennd1c |
A |
G |
17: 57,374,915 (GRCm39) |
|
probably null |
Het |
Dnah8 |
A |
T |
17: 30,923,698 (GRCm39) |
D1222V |
possibly damaging |
Het |
Errfi1 |
T |
C |
4: 150,951,225 (GRCm39) |
S218P |
probably benign |
Het |
Fbxw27 |
G |
T |
9: 109,599,223 (GRCm39) |
T398N |
probably damaging |
Het |
Fhod3 |
A |
G |
18: 25,223,219 (GRCm39) |
D855G |
probably benign |
Het |
Flii |
A |
G |
11: 60,611,481 (GRCm39) |
V410A |
probably benign |
Het |
Fsip2 |
C |
A |
2: 82,817,968 (GRCm39) |
P4567Q |
probably benign |
Het |
Fxyd1 |
T |
G |
7: 30,752,458 (GRCm39) |
Q66H |
probably damaging |
Het |
Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
Gramd2b |
C |
T |
18: 56,625,017 (GRCm39) |
T370I |
probably benign |
Het |
Kdr |
A |
G |
5: 76,104,993 (GRCm39) |
V1079A |
probably damaging |
Het |
Lmx1a |
G |
A |
1: 167,658,115 (GRCm39) |
G166D |
probably damaging |
Het |
Lrrfip2 |
A |
G |
9: 111,002,176 (GRCm39) |
R92G |
probably benign |
Het |
Map1a |
T |
A |
2: 121,130,998 (GRCm39) |
S605T |
probably benign |
Het |
Megf8 |
A |
T |
7: 25,045,945 (GRCm39) |
D1496V |
probably damaging |
Het |
Mgam |
T |
C |
6: 40,638,650 (GRCm39) |
V461A |
probably benign |
Het |
Muc6 |
AGGCGCAGAAACCCTGGC |
AGGC |
7: 141,214,363 (GRCm39) |
|
probably null |
Het |
Nav3 |
T |
C |
10: 109,539,195 (GRCm39) |
T2069A |
probably benign |
Het |
Nbeal2 |
A |
T |
9: 110,474,506 (GRCm39) |
|
probably null |
Het |
Ndst1 |
A |
G |
18: 60,828,572 (GRCm39) |
F661L |
possibly damaging |
Het |
Neu3 |
G |
A |
7: 99,463,027 (GRCm39) |
T232M |
possibly damaging |
Het |
Nf1 |
T |
C |
11: 79,461,156 (GRCm39) |
S741P |
probably benign |
Het |
Nr5a1 |
G |
T |
2: 38,584,148 (GRCm39) |
L424M |
probably damaging |
Het |
Nuf2 |
G |
A |
1: 169,333,641 (GRCm39) |
T345M |
probably benign |
Het |
Or4d10c |
A |
G |
19: 12,065,530 (GRCm39) |
F209L |
possibly damaging |
Het |
Or4k51 |
A |
T |
2: 111,585,421 (GRCm39) |
T276S |
probably benign |
Het |
Or6d12 |
T |
A |
6: 116,493,721 (GRCm39) |
*328R |
probably null |
Het |
Or8g33 |
G |
A |
9: 39,337,599 (GRCm39) |
T256I |
probably benign |
Het |
Otud7a |
A |
G |
7: 63,407,203 (GRCm39) |
E502G |
possibly damaging |
Het |
Otulin |
A |
G |
15: 27,608,832 (GRCm39) |
L237S |
probably damaging |
Het |
Pias1 |
A |
G |
9: 62,788,427 (GRCm39) |
M79T |
|
Het |
Prom2 |
T |
C |
2: 127,381,698 (GRCm39) |
E206G |
probably benign |
Het |
Scarb1 |
A |
T |
5: 125,381,414 (GRCm39) |
N43K |
probably damaging |
Het |
Sdad1 |
A |
G |
5: 92,441,832 (GRCm39) |
V365A |
possibly damaging |
Het |
Sdk2 |
T |
C |
11: 113,725,731 (GRCm39) |
T1173A |
probably damaging |
Het |
Sidt1 |
A |
G |
16: 44,063,860 (GRCm39) |
S803P |
probably damaging |
Het |
Slc45a1 |
A |
T |
4: 150,714,030 (GRCm39) |
D738E |
probably benign |
Het |
Slc4a7 |
T |
A |
14: 14,733,750 (GRCm38) |
H53Q |
probably damaging |
Het |
Spata22 |
T |
C |
11: 73,231,225 (GRCm39) |
F160L |
probably benign |
Het |
Stag1 |
G |
A |
9: 100,826,879 (GRCm39) |
V949I |
probably benign |
Het |
Syne1 |
T |
C |
10: 5,073,744 (GRCm39) |
S1200G |
probably benign |
Het |
Tbc1d9 |
A |
G |
8: 83,981,520 (GRCm39) |
E729G |
probably damaging |
Het |
Tcaf2 |
C |
T |
6: 42,607,275 (GRCm39) |
M226I |
probably benign |
Het |
Tep1 |
T |
C |
14: 51,081,944 (GRCm39) |
|
probably null |
Het |
Tigd2 |
C |
A |
6: 59,187,166 (GRCm39) |
T11K |
probably damaging |
Het |
Trappc9 |
A |
G |
15: 72,565,468 (GRCm39) |
V941A |
probably benign |
Het |
Ugt2b37 |
A |
G |
5: 87,388,848 (GRCm39) |
M455T |
probably benign |
Het |
Usp42 |
A |
T |
5: 143,712,400 (GRCm39) |
S95T |
probably damaging |
Het |
Usp44 |
T |
C |
10: 93,686,049 (GRCm39) |
I488T |
possibly damaging |
Het |
Vmn1r73 |
T |
C |
7: 11,490,320 (GRCm39) |
I46T |
probably damaging |
Het |
Vmn2r34 |
A |
T |
7: 7,675,540 (GRCm39) |
I616N |
probably damaging |
Het |
Zfp352 |
A |
G |
4: 90,113,117 (GRCm39) |
K419R |
probably benign |
Het |
Zfp595 |
T |
A |
13: 67,465,711 (GRCm39) |
H187L |
probably damaging |
Het |
Zfp804b |
A |
T |
5: 6,822,161 (GRCm39) |
S301T |
probably benign |
Het |
Zzef1 |
T |
C |
11: 72,763,475 (GRCm39) |
V1374A |
possibly damaging |
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 |
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 |
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'- AAAATGCTGGAGGGTCTGGG -3'
(R):5'- GCCAATGACAGTGTATGTTGTCC -3'
Sequencing Primer
(F):5'- CTTTCCCAAGTTTGTTCAAAAATGC -3'
(R):5'- CTGATCCTTTTTAGAAGACCCGAG -3'
|
Posted On |
2019-05-15 |