Incidental Mutation 'R7659:Ankar'
ID |
591408 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankar
|
Ensembl Gene |
ENSMUSG00000039342 |
Gene Name |
ankyrin and armadillo repeat containing |
Synonyms |
4932422E22Rik |
MMRRC Submission |
045734-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R7659 (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 72729294 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 284
(T284A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054056
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053499]
[ENSMUST00000211837]
[ENSMUST00000212573]
[ENSMUST00000212710]
|
AlphaFold |
A2RT91 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053499
AA Change: T284A
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000054056 Gene: ENSMUSG00000039342 AA Change: T284A
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 |
possibly damaging
Transcript: ENSMUST00000211837
AA Change: T284A
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212573
AA Change: T66A
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212710
AA Change: T132A
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (66/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh2 |
T |
C |
5: 121,707,023 (GRCm39) |
E498G |
probably damaging |
Het |
Arid5b |
C |
T |
10: 67,934,417 (GRCm39) |
G495E |
probably benign |
Het |
Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
Atp6v0a4 |
A |
G |
6: 38,048,907 (GRCm39) |
I452T |
probably damaging |
Het |
Azgp1 |
G |
T |
5: 137,985,775 (GRCm39) |
A133S |
probably damaging |
Het |
Bmp2k |
T |
C |
5: 97,222,578 (GRCm39) |
S667P |
unknown |
Het |
C1qtnf9 |
T |
A |
14: 61,009,753 (GRCm39) |
I3N |
possibly damaging |
Het |
C530025M09Rik |
T |
G |
2: 149,672,539 (GRCm39) |
T199P |
unknown |
Het |
Casc3 |
C |
G |
11: 98,700,699 (GRCm39) |
R4G |
unknown |
Het |
Cass4 |
A |
G |
2: 172,268,947 (GRCm39) |
D343G |
probably damaging |
Het |
Cenatac |
T |
C |
9: 44,324,790 (GRCm39) |
E164G |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,709,467 (GRCm39) |
T2517S |
unknown |
Het |
Dbr1 |
A |
G |
9: 99,458,663 (GRCm39) |
T78A |
probably damaging |
Het |
Dnah9 |
A |
G |
11: 65,880,606 (GRCm39) |
F2664L |
probably damaging |
Het |
Eif2ak1 |
T |
C |
5: 143,826,280 (GRCm39) |
I431T |
probably damaging |
Het |
Got1 |
A |
G |
19: 43,493,078 (GRCm39) |
V281A |
probably benign |
Het |
Gpld1 |
A |
C |
13: 25,163,964 (GRCm39) |
R555S |
probably benign |
Het |
Gpr149 |
T |
C |
3: 62,511,256 (GRCm39) |
R248G |
probably benign |
Het |
Hps3 |
G |
A |
3: 20,076,978 (GRCm39) |
R395* |
probably null |
Het |
Inpp5b |
T |
C |
4: 124,689,219 (GRCm39) |
L833P |
probably damaging |
Het |
Itgb4 |
A |
T |
11: 115,870,557 (GRCm39) |
S129C |
probably damaging |
Het |
Kif1a |
T |
A |
1: 92,974,542 (GRCm39) |
|
probably benign |
Het |
Lgr4 |
T |
A |
2: 109,827,111 (GRCm39) |
V205E |
probably damaging |
Het |
Mbd3 |
T |
C |
10: 80,231,019 (GRCm39) |
N96S |
probably damaging |
Het |
Mcam |
T |
A |
9: 44,048,067 (GRCm39) |
C136S |
unknown |
Het |
Mki67 |
A |
G |
7: 135,299,155 (GRCm39) |
S1960P |
probably damaging |
Het |
Mogs |
G |
A |
6: 83,093,806 (GRCm39) |
|
probably null |
Het |
Muc6 |
T |
C |
7: 141,216,973 (GRCm39) |
T2567A |
possibly damaging |
Het |
Mug1 |
C |
A |
6: 121,838,179 (GRCm39) |
H470N |
possibly damaging |
Het |
Nae1 |
A |
G |
8: 105,242,796 (GRCm39) |
V432A |
probably benign |
Het |
Nav3 |
T |
G |
10: 109,602,851 (GRCm39) |
T1233P |
probably benign |
Het |
Nme9 |
G |
A |
9: 99,352,910 (GRCm39) |
A287T |
possibly damaging |
Het |
Nmrk1 |
A |
G |
19: 18,613,499 (GRCm39) |
I8V |
probably benign |
Het |
Noa1 |
T |
C |
5: 77,457,237 (GRCm39) |
N223D |
not run |
Het |
Nr4a3 |
T |
C |
4: 48,051,269 (GRCm39) |
Y8H |
probably damaging |
Het |
Or12e1 |
T |
A |
2: 87,022,709 (GRCm39) |
V226E |
possibly damaging |
Het |
Or1j15 |
T |
A |
2: 36,458,637 (GRCm39) |
V9E |
possibly damaging |
Het |
Or2b4 |
A |
T |
17: 38,116,054 (GRCm39) |
Q6L |
probably benign |
Het |
Or4n4b |
T |
C |
14: 50,536,698 (GRCm39) |
I23V |
probably benign |
Het |
Or4p20 |
T |
C |
2: 88,254,270 (GRCm39) |
Y33C |
probably damaging |
Het |
Or52h2 |
T |
C |
7: 103,839,394 (GRCm39) |
S7G |
probably benign |
Het |
Or7g29 |
C |
T |
9: 19,286,854 (GRCm39) |
A108T |
probably benign |
Het |
Or8c9 |
T |
C |
9: 38,241,012 (GRCm39) |
V40A |
possibly damaging |
Het |
Otoa |
T |
A |
7: 120,733,267 (GRCm39) |
H711Q |
probably benign |
Het |
Otogl |
T |
A |
10: 107,612,981 (GRCm39) |
E2048D |
probably benign |
Het |
Paip1 |
C |
T |
13: 119,587,306 (GRCm39) |
T390I |
possibly damaging |
Het |
Pcdha3 |
A |
G |
18: 37,081,219 (GRCm39) |
T654A |
probably benign |
Het |
Pigg |
G |
A |
5: 108,486,485 (GRCm39) |
V713I |
probably benign |
Het |
Ppt1 |
T |
A |
4: 122,730,126 (GRCm39) |
H26Q |
probably benign |
Het |
Prim1 |
T |
C |
10: 127,862,458 (GRCm39) |
|
probably null |
Het |
Prmt7 |
G |
T |
8: 106,963,918 (GRCm39) |
A271S |
probably benign |
Het |
Ptprd |
T |
C |
4: 76,047,153 (GRCm39) |
D124G |
probably benign |
Het |
Rad54l2 |
T |
C |
9: 106,590,777 (GRCm39) |
K450E |
probably benign |
Het |
Rasgrp2 |
G |
T |
19: 6,451,857 (GRCm39) |
V13L |
probably damaging |
Het |
Sapcd2 |
A |
G |
2: 25,265,978 (GRCm39) |
|
probably null |
Het |
Siglecf |
A |
G |
7: 43,001,194 (GRCm39) |
Y54C |
probably damaging |
Het |
Stk31 |
T |
A |
6: 49,400,340 (GRCm39) |
N388K |
probably benign |
Het |
Timm23 |
A |
C |
14: 31,920,935 (GRCm39) |
Y52* |
probably null |
Het |
Tm9sf1 |
A |
T |
14: 55,873,792 (GRCm39) |
F569I |
probably damaging |
Het |
Tmprss9 |
C |
A |
10: 80,728,843 (GRCm39) |
A592E |
probably damaging |
Het |
Trim30d |
A |
T |
7: 104,121,554 (GRCm39) |
V397E |
probably benign |
Het |
Tshz1 |
A |
T |
18: 84,034,200 (GRCm39) |
N69K |
probably damaging |
Het |
Upk2 |
A |
C |
9: 44,364,808 (GRCm39) |
S130R |
probably damaging |
Het |
Vmn1r80 |
A |
G |
7: 11,926,977 (GRCm39) |
Y29C |
probably damaging |
Het |
Vmn2r96 |
T |
C |
17: 18,793,749 (GRCm39) |
I31T |
probably benign |
Het |
Zfp975 |
T |
C |
7: 42,311,848 (GRCm39) |
Q255R |
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 |
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 |
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'- GGTAGCAATGAGAACATACATTCTGC -3'
(R):5'- TATGAGCCCAATAGCCCTGAAG -3'
Sequencing Primer
(F):5'- TTGCTTATCCTCTTACCTGAAAAAG -3'
(R):5'- CCCTGAAGAAAAGGCTGTGTTTATG -3'
|
Posted On |
2019-11-12 |