Incidental Mutation 'R7258:Ankar'
ID |
564386 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankar
|
Ensembl Gene |
ENSMUSG00000039342 |
Gene Name |
ankyrin and armadillo repeat containing |
Synonyms |
4932422E22Rik |
MMRRC Submission |
045386-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R7258 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
72682139-72739738 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72690886 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1196
(V1196A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148801
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053499]
[ENSMUST00000211837]
[ENSMUST00000212573]
|
AlphaFold |
A2RT91 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053499
AA Change: V1197A
PolyPhen 2
Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000054056 Gene: ENSMUSG00000039342 AA Change: V1197A
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: V1196A
PolyPhen 2
Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212573
AA Change: V979A
PolyPhen 2
Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
98% (63/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402J07Rik |
A |
C |
8: 88,312,805 (GRCm39) |
S197R |
probably damaging |
Het |
Abcc12 |
T |
C |
8: 87,287,486 (GRCm39) |
R120G |
possibly damaging |
Het |
Abhd14b |
A |
G |
9: 106,327,418 (GRCm39) |
I67V |
probably benign |
Het |
Alpk1 |
A |
T |
3: 127,518,115 (GRCm39) |
V62E |
probably damaging |
Het |
Ccr5 |
A |
T |
9: 123,925,311 (GRCm39) |
K305* |
probably null |
Het |
Cdc42bpb |
T |
C |
12: 111,292,518 (GRCm39) |
H339R |
probably damaging |
Het |
Cdhr18 |
A |
T |
14: 13,899,648 (GRCm38) |
F91L |
|
Het |
Cep290 |
T |
G |
10: 100,334,970 (GRCm39) |
M330R |
probably benign |
Het |
Cyfip2 |
T |
C |
11: 46,115,004 (GRCm39) |
Y901C |
probably benign |
Het |
Ddx54 |
T |
G |
5: 120,758,812 (GRCm39) |
Y352D |
probably damaging |
Het |
Defa35 |
A |
T |
8: 21,555,245 (GRCm39) |
H55L |
possibly damaging |
Het |
Dnmt3b |
T |
A |
2: 153,525,519 (GRCm39) |
|
probably null |
Het |
Enpep |
A |
C |
3: 129,125,724 (GRCm39) |
L136R |
probably benign |
Het |
Epb41l2 |
G |
A |
10: 25,360,185 (GRCm39) |
A516T |
probably damaging |
Het |
Frmd4a |
A |
T |
2: 4,305,764 (GRCm39) |
Q13L |
probably benign |
Het |
Frmpd1 |
C |
A |
4: 45,269,974 (GRCm39) |
D271E |
possibly damaging |
Het |
Gbp5 |
T |
A |
3: 142,212,542 (GRCm39) |
L410H |
probably damaging |
Het |
Gipc2 |
T |
C |
3: 151,871,352 (GRCm39) |
E58G |
probably damaging |
Het |
Gm6309 |
A |
T |
5: 146,105,106 (GRCm39) |
V269E |
probably benign |
Het |
Grm5 |
A |
T |
7: 87,723,914 (GRCm39) |
T735S |
probably damaging |
Het |
H6pd |
T |
C |
4: 150,080,819 (GRCm39) |
M9V |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,591,574 (GRCm39) |
I1875T |
probably benign |
Het |
Hrc |
T |
A |
7: 44,985,720 (GRCm39) |
D290E |
possibly damaging |
Het |
Iftap |
T |
C |
2: 101,440,937 (GRCm39) |
D22G |
probably null |
Het |
Ippk |
C |
A |
13: 49,587,338 (GRCm39) |
Q136K |
probably benign |
Het |
Kcnv1 |
T |
C |
15: 44,972,711 (GRCm39) |
T391A |
probably damaging |
Het |
Kdm5b |
A |
C |
1: 134,548,759 (GRCm39) |
E1088A |
probably damaging |
Het |
L1td1 |
C |
T |
4: 98,625,101 (GRCm39) |
A432V |
probably benign |
Het |
Ly86 |
A |
G |
13: 37,529,473 (GRCm39) |
D20G |
probably benign |
Het |
Myo1g |
A |
G |
11: 6,459,416 (GRCm39) |
I818T |
possibly damaging |
Het |
Nms |
A |
G |
1: 38,986,051 (GRCm39) |
T121A |
probably benign |
Het |
Or1e31 |
T |
G |
11: 73,690,206 (GRCm39) |
I126L |
probably damaging |
Het |
Or1j4 |
T |
A |
2: 36,740,352 (GRCm39) |
I98K |
probably damaging |
Het |
Or51af1 |
G |
C |
7: 103,141,796 (GRCm39) |
C96W |
probably damaging |
Het |
Or6b3 |
A |
T |
1: 92,438,898 (GRCm39) |
I284N |
possibly damaging |
Het |
Or6c69 |
T |
A |
10: 129,748,156 (GRCm39) |
|
probably benign |
Het |
Or8k37 |
T |
A |
2: 86,469,345 (GRCm39) |
K236* |
probably null |
Het |
Pcdhb9 |
T |
C |
18: 37,535,167 (GRCm39) |
L387P |
probably damaging |
Het |
Pcsk1 |
G |
A |
13: 75,241,305 (GRCm39) |
R95H |
probably damaging |
Het |
Pde11a |
T |
C |
2: 75,970,250 (GRCm39) |
D502G |
possibly damaging |
Het |
Plekhg2 |
T |
C |
7: 28,064,203 (GRCm39) |
D446G |
probably benign |
Het |
Ptch1 |
T |
C |
13: 63,721,108 (GRCm39) |
K54E |
not run |
Het |
Rasal2 |
A |
T |
1: 156,985,270 (GRCm39) |
L826M |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,343,401 (GRCm39) |
I3589V |
|
Het |
Sin3b |
T |
C |
8: 73,476,836 (GRCm39) |
C757R |
probably benign |
Het |
Slc41a1 |
T |
A |
1: 131,769,780 (GRCm39) |
V300D |
probably benign |
Het |
Snorc |
A |
C |
1: 87,402,789 (GRCm39) |
I40L |
probably benign |
Het |
Snrpa1 |
T |
C |
7: 65,719,891 (GRCm39) |
F162L |
probably damaging |
Het |
Sox30 |
C |
A |
11: 45,871,379 (GRCm39) |
A78E |
unknown |
Het |
Ssc4d |
G |
T |
5: 135,991,941 (GRCm39) |
A401E |
probably damaging |
Het |
Steap3 |
A |
G |
1: 120,171,716 (GRCm39) |
F130L |
possibly damaging |
Het |
Stx5a |
A |
G |
19: 8,732,271 (GRCm39) |
|
probably null |
Het |
Tgfbr2 |
A |
T |
9: 115,958,898 (GRCm39) |
I172N |
probably damaging |
Het |
Tgm4 |
A |
G |
9: 122,891,556 (GRCm39) |
D557G |
probably benign |
Het |
Tmprss11c |
A |
G |
5: 86,419,272 (GRCm39) |
S96P |
probably damaging |
Het |
Trpa1 |
T |
G |
1: 14,973,473 (GRCm39) |
T282P |
probably damaging |
Het |
Uba5 |
A |
T |
9: 103,940,132 (GRCm39) |
V5E |
unknown |
Het |
Ugt2b36 |
A |
T |
5: 87,228,762 (GRCm39) |
L427H |
probably damaging |
Het |
Utp14b |
T |
A |
1: 78,642,691 (GRCm39) |
H196Q |
probably benign |
Het |
Vmn2r44 |
T |
A |
7: 8,380,848 (GRCm39) |
L348F |
probably damaging |
Het |
Vmn2r93 |
T |
G |
17: 18,525,403 (GRCm39) |
L354V |
probably benign |
Het |
Wwc2 |
T |
A |
8: 48,296,034 (GRCm39) |
N1079Y |
unknown |
Het |
Zfp653 |
T |
C |
9: 21,977,116 (GRCm39) |
D145G |
probably benign |
Het |
Zfp777 |
T |
C |
6: 48,002,731 (GRCm39) |
E453G |
probably damaging |
Het |
Zfp936 |
T |
A |
7: 42,839,803 (GRCm39) |
H423Q |
probably damaging |
Het |
Zfyve9 |
A |
T |
4: 108,514,151 (GRCm39) |
Y496N |
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 |
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 |
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'- GACTTTCCATGAGGTAGAGGGG -3'
(R):5'- GGGAGGCTTCTGAAACACTTTTC -3'
Sequencing Primer
(F):5'- GCAAATGTGCCAAGTACTAAATTTC -3'
(R):5'- TTGTAATAGTCAGCAACCTAGGAGCC -3'
|
Posted On |
2019-06-26 |