Incidental Mutation 'R4632:Ankar'
ID |
349241 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankar
|
Ensembl Gene |
ENSMUSG00000039342 |
Gene Name |
ankyrin and armadillo repeat containing |
Synonyms |
4932422E22Rik |
MMRRC Submission |
041897-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R4632 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
72682139-72739738 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 72686343 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 1286
(T1286S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054056
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053499]
[ENSMUST00000211837]
[ENSMUST00000212573]
|
AlphaFold |
A2RT91 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053499
AA Change: T1286S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000054056 Gene: ENSMUSG00000039342 AA Change: T1286S
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: T1285S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211909
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212057
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212573
AA Change: T1068S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg1 |
T |
C |
17: 31,283,447 (GRCm39) |
V44A |
probably benign |
Het |
Abr |
C |
T |
11: 76,399,845 (GRCm39) |
G39R |
probably benign |
Het |
Adora2b |
TGGACCACTCCAGGACCACTC |
TGGACCACTC |
11: 62,156,208 (GRCm39) |
|
probably null |
Het |
Agbl1 |
A |
G |
7: 76,063,433 (GRCm39) |
T47A |
probably benign |
Het |
Akap13 |
G |
T |
7: 75,316,301 (GRCm39) |
A1389S |
possibly damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Ankrd13c |
A |
G |
3: 157,667,939 (GRCm39) |
H166R |
probably damaging |
Het |
Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
Arl16 |
A |
G |
11: 120,356,610 (GRCm39) |
S130P |
probably damaging |
Het |
Atp10a |
A |
T |
7: 58,457,186 (GRCm39) |
Q895L |
possibly damaging |
Het |
Atp13a5 |
T |
A |
16: 29,167,537 (GRCm39) |
R138W |
probably damaging |
Het |
Auts2 |
G |
A |
5: 131,501,113 (GRCm39) |
T309M |
probably damaging |
Het |
C6 |
A |
T |
15: 4,789,350 (GRCm39) |
K265I |
probably benign |
Het |
Casz1 |
A |
G |
4: 149,036,312 (GRCm39) |
T1525A |
possibly damaging |
Het |
Cd200l1 |
T |
G |
16: 45,238,271 (GRCm39) |
H181P |
probably benign |
Het |
Chpf2 |
A |
G |
5: 24,796,829 (GRCm39) |
T592A |
probably benign |
Het |
Cilp |
A |
T |
9: 65,187,162 (GRCm39) |
T1086S |
probably benign |
Het |
Cmip |
A |
G |
8: 118,174,150 (GRCm39) |
Y410C |
possibly damaging |
Het |
Csmd3 |
A |
G |
15: 47,874,605 (GRCm39) |
C560R |
probably damaging |
Het |
Dchs1 |
T |
A |
7: 105,403,562 (GRCm39) |
E2993D |
probably benign |
Het |
Dnah7a |
A |
G |
1: 53,467,110 (GRCm39) |
F3585L |
probably damaging |
Het |
Dspp |
A |
G |
5: 104,325,272 (GRCm39) |
D545G |
unknown |
Het |
Dusp7 |
T |
A |
9: 106,247,965 (GRCm39) |
S198T |
possibly damaging |
Het |
Ell2 |
A |
T |
13: 75,917,693 (GRCm39) |
Q541L |
possibly damaging |
Het |
Fzd1 |
A |
T |
5: 4,805,865 (GRCm39) |
Y572* |
probably null |
Het |
Galntl6 |
T |
A |
8: 58,880,857 (GRCm39) |
I99F |
probably damaging |
Het |
Gnat3 |
G |
A |
5: 18,220,364 (GRCm39) |
|
probably null |
Het |
Hykk |
T |
C |
9: 54,853,800 (GRCm39) |
I374T |
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kcnt2 |
A |
G |
1: 140,450,886 (GRCm39) |
I722V |
possibly damaging |
Het |
Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
Krt13 |
A |
G |
11: 100,012,050 (GRCm39) |
L91P |
possibly damaging |
Het |
Krtap4-13 |
A |
C |
11: 99,700,354 (GRCm39) |
S102A |
unknown |
Het |
Lrp2 |
A |
G |
2: 69,319,473 (GRCm39) |
|
probably null |
Het |
Lrriq1 |
C |
T |
10: 103,057,288 (GRCm39) |
V171I |
probably damaging |
Het |
Map3k4 |
C |
G |
17: 12,451,391 (GRCm39) |
E1501Q |
probably damaging |
Het |
Mapk11 |
C |
T |
15: 89,030,579 (GRCm39) |
V105M |
probably damaging |
Het |
Mlph |
G |
A |
1: 90,867,108 (GRCm39) |
A377T |
probably damaging |
Het |
Myo9a |
G |
A |
9: 59,776,947 (GRCm39) |
C1115Y |
probably benign |
Het |
Nabp1 |
A |
T |
1: 51,513,761 (GRCm39) |
Y78* |
probably null |
Het |
Nos2 |
T |
C |
11: 78,848,417 (GRCm39) |
F1108S |
possibly damaging |
Het |
Oas2 |
T |
C |
5: 120,871,546 (GRCm39) |
K699R |
probably benign |
Het |
Olfm5 |
T |
C |
7: 103,810,100 (GRCm39) |
D87G |
probably benign |
Het |
Oog3 |
A |
G |
4: 143,884,698 (GRCm39) |
F413L |
probably benign |
Het |
Or2c1 |
C |
T |
16: 3,656,951 (GRCm39) |
T38M |
probably damaging |
Het |
Pik3r4 |
A |
G |
9: 105,532,098 (GRCm39) |
M557V |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,347,796 (GRCm39) |
T224A |
probably benign |
Het |
Pknox2 |
A |
G |
9: 36,805,709 (GRCm39) |
S367P |
probably benign |
Het |
Ppfia2 |
A |
G |
10: 106,671,905 (GRCm39) |
|
probably null |
Het |
Ppm1e |
G |
A |
11: 87,122,356 (GRCm39) |
P534S |
probably damaging |
Het |
Prepl |
T |
C |
17: 85,390,659 (GRCm39) |
T100A |
probably benign |
Het |
Ptpn13 |
A |
G |
5: 103,717,726 (GRCm39) |
N1924S |
possibly damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Samd12 |
T |
A |
15: 53,583,067 (GRCm39) |
H89L |
possibly damaging |
Het |
Sephs1 |
T |
A |
2: 4,901,571 (GRCm39) |
V211E |
probably benign |
Het |
Setx |
C |
T |
2: 29,038,627 (GRCm39) |
T1704I |
probably benign |
Het |
Sltm |
T |
C |
9: 70,486,651 (GRCm39) |
S439P |
possibly damaging |
Het |
Sort1 |
G |
T |
3: 108,253,994 (GRCm39) |
Q553H |
probably damaging |
Het |
Svs5 |
G |
T |
2: 164,079,667 (GRCm39) |
T80N |
probably benign |
Het |
Tanc1 |
C |
A |
2: 59,626,179 (GRCm39) |
T512K |
probably damaging |
Het |
Tas2r139 |
T |
A |
6: 42,118,432 (GRCm39) |
V188E |
probably damaging |
Het |
Tesk2 |
C |
T |
4: 116,598,909 (GRCm39) |
R6W |
probably benign |
Het |
Tex101 |
G |
T |
7: 24,367,793 (GRCm39) |
C186* |
probably null |
Het |
Timp2 |
C |
T |
11: 118,194,598 (GRCm39) |
S197N |
probably benign |
Het |
Tmem37 |
A |
T |
1: 119,995,979 (GRCm39) |
C33S |
probably damaging |
Het |
Tmem69 |
T |
C |
4: 116,410,235 (GRCm39) |
D245G |
probably benign |
Het |
Trak1 |
G |
A |
9: 121,283,491 (GRCm39) |
R419Q |
probably benign |
Het |
Ube2j2 |
T |
A |
4: 156,039,715 (GRCm39) |
I14N |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,128,071 (GRCm39) |
N694K |
possibly damaging |
Het |
Utp20 |
A |
G |
10: 88,614,123 (GRCm39) |
V1277A |
probably damaging |
Het |
Vmn2r100 |
C |
T |
17: 19,752,216 (GRCm39) |
S753F |
probably damaging |
Het |
Vmn2r103 |
T |
C |
17: 20,013,958 (GRCm39) |
I250T |
probably benign |
Het |
Zap70 |
G |
T |
1: 36,817,539 (GRCm39) |
A261S |
probably benign |
Het |
Zdhhc6 |
A |
G |
19: 55,302,741 (GRCm39) |
W87R |
probably damaging |
Het |
Zfp410 |
A |
T |
12: 84,372,510 (GRCm39) |
D112V |
probably damaging |
Het |
Zfp462 |
T |
C |
4: 55,012,981 (GRCm39) |
F501S |
probably 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 |
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 |
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'- CCTTTGCTGCAGTTGAAACTC -3'
(R):5'- TATGCTACATATGACACCCTCAATC -3'
Sequencing Primer
(F):5'- GCTGCAGTTGAAACTCCTTTAG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
|
Posted On |
2015-10-08 |