Incidental Mutation 'R8970:Ankar'
| ID |
682982 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankar
|
| Ensembl Gene |
ENSMUSG00000039342 |
| Gene Name |
ankyrin and armadillo repeat containing |
| Synonyms |
4932422E22Rik |
| MMRRC Submission |
068804-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R8970 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
72682139-72739738 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 72691496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053499]
[ENSMUST00000211837]
[ENSMUST00000212573]
|
| AlphaFold |
A2RT91 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000053499
|
| SMART Domains |
Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212573
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,545,726 (GRCm39) |
V467A |
probably damaging |
Het |
| Abca2 |
T |
C |
2: 25,335,728 (GRCm39) |
V2113A |
probably benign |
Het |
| Adam10 |
A |
G |
9: 70,655,458 (GRCm39) |
N309D |
probably benign |
Het |
| Adcy1 |
T |
A |
11: 7,099,983 (GRCm39) |
W698R |
probably benign |
Het |
| Adnp |
T |
C |
2: 168,031,290 (GRCm39) |
N7S |
possibly damaging |
Het |
| Ankrd34b |
T |
A |
13: 92,575,590 (GRCm39) |
I274K |
probably benign |
Het |
| Apela |
A |
T |
8: 65,489,601 (GRCm39) |
L6H |
unknown |
Het |
| Ash1l |
T |
C |
3: 88,976,307 (GRCm39) |
I2629T |
probably benign |
Het |
| Auts2 |
C |
T |
5: 132,287,791 (GRCm39) |
R64K |
possibly damaging |
Het |
| Bms1 |
A |
G |
6: 118,369,292 (GRCm39) |
V1003A |
possibly damaging |
Het |
| C2cd3 |
T |
C |
7: 100,068,971 (GRCm39) |
V555A |
|
Het |
| C2cd6 |
T |
A |
1: 59,108,895 (GRCm39) |
H252L |
possibly damaging |
Het |
| Capn3 |
G |
T |
2: 120,294,566 (GRCm39) |
K71N |
possibly damaging |
Het |
| Chct1 |
A |
G |
11: 85,069,246 (GRCm39) |
E198G |
probably benign |
Het |
| Clec2l |
C |
A |
6: 38,657,122 (GRCm39) |
T195K |
possibly damaging |
Het |
| Col27a1 |
T |
C |
4: 63,134,105 (GRCm39) |
S15P |
unknown |
Het |
| Coro2b |
T |
C |
9: 62,333,809 (GRCm39) |
|
probably benign |
Het |
| Crocc2 |
A |
T |
1: 93,116,687 (GRCm39) |
T233S |
probably benign |
Het |
| Ddb1 |
A |
G |
19: 10,585,808 (GRCm39) |
Q174R |
probably benign |
Het |
| Denr |
C |
T |
5: 124,055,279 (GRCm39) |
P48L |
probably damaging |
Het |
| Dusp26 |
A |
G |
8: 31,584,232 (GRCm39) |
Y113C |
probably damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Evi5l |
A |
G |
8: 4,236,154 (GRCm39) |
|
probably benign |
Het |
| Fgf2 |
G |
T |
3: 37,458,767 (GRCm39) |
V96F |
probably benign |
Het |
| Gpr139 |
A |
G |
7: 118,744,034 (GRCm39) |
Y184H |
probably damaging |
Het |
| Gtf3c1 |
A |
C |
7: 125,272,227 (GRCm39) |
|
probably benign |
Het |
| Gucy1b2 |
A |
G |
14: 62,656,664 (GRCm39) |
V231A |
possibly damaging |
Het |
| Gucy2g |
T |
C |
19: 55,191,478 (GRCm39) |
E991G |
possibly damaging |
Het |
| Gvin1 |
A |
T |
7: 105,762,647 (GRCm39) |
H607Q |
probably damaging |
Het |
| Hal |
T |
C |
10: 93,325,036 (GRCm39) |
V15A |
probably damaging |
Het |
| Hes3 |
A |
G |
4: 152,376,036 (GRCm39) |
|
probably null |
Het |
| Il11 |
A |
G |
7: 4,779,181 (GRCm39) |
L72P |
probably damaging |
Het |
| Iqsec3 |
T |
A |
6: 121,366,528 (GRCm39) |
I785F |
probably damaging |
Het |
| Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
| Lrpprc |
T |
A |
17: 85,074,483 (GRCm39) |
T475S |
probably damaging |
Het |
| Lrrc63 |
T |
A |
14: 75,362,631 (GRCm39) |
T300S |
unknown |
Het |
| Lsamp |
A |
T |
16: 41,994,528 (GRCm39) |
I331F |
possibly damaging |
Het |
| Ltn1 |
A |
T |
16: 87,212,926 (GRCm39) |
I545K |
probably benign |
Het |
| Mab21l4 |
G |
C |
1: 93,087,533 (GRCm39) |
P107A |
probably benign |
Het |
| Med13l |
G |
A |
5: 118,883,164 (GRCm39) |
R1341H |
probably damaging |
Het |
| Msh4 |
T |
A |
3: 153,575,369 (GRCm39) |
K669* |
probably null |
Het |
| Myo10 |
T |
A |
15: 25,803,467 (GRCm39) |
L1558H |
possibly damaging |
Het |
| Ncbp1 |
G |
A |
4: 46,170,023 (GRCm39) |
V699M |
probably damaging |
Het |
| Or12k8 |
T |
A |
2: 36,975,478 (GRCm39) |
Y94F |
probably benign |
Het |
| Or56b1b |
A |
G |
7: 108,164,997 (GRCm39) |
S2P |
probably benign |
Het |
| Or5b114-ps1 |
T |
G |
19: 13,353,117 (GRCm39) |
S264A |
unknown |
Het |
| Or5b99 |
T |
A |
19: 12,976,353 (GRCm39) |
M1K |
probably null |
Het |
| Parpbp |
G |
A |
10: 87,962,186 (GRCm39) |
R165W |
probably damaging |
Het |
| Pcdhgb7 |
T |
A |
18: 37,885,631 (GRCm39) |
M267K |
probably benign |
Het |
| Pitx3 |
T |
A |
19: 46,125,540 (GRCm39) |
H68L |
possibly damaging |
Het |
| Ppfia4 |
A |
G |
1: 134,252,289 (GRCm39) |
L395P |
probably damaging |
Het |
| Pramel42 |
T |
C |
5: 94,685,645 (GRCm39) |
V435A |
probably benign |
Het |
| Ptprh |
T |
C |
7: 4,583,944 (GRCm39) |
D216G |
possibly damaging |
Het |
| Ptprs |
A |
G |
17: 56,730,353 (GRCm39) |
S1174P |
possibly damaging |
Het |
| Shf |
A |
G |
2: 122,187,654 (GRCm39) |
S51P |
probably benign |
Het |
| Sinhcaf |
A |
T |
6: 148,834,624 (GRCm39) |
F2I |
probably damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,822 (GRCm39) |
L65Q |
probably damaging |
Het |
| Srgap2 |
G |
A |
1: 131,226,104 (GRCm39) |
L390F |
|
Het |
| Srpk1 |
T |
C |
17: 28,818,493 (GRCm39) |
T448A |
probably benign |
Het |
| Stat5a |
A |
G |
11: 100,771,353 (GRCm39) |
D612G |
probably benign |
Het |
| Supt4a |
A |
T |
11: 87,633,645 (GRCm39) |
E67V |
probably benign |
Het |
| Tango6 |
T |
A |
8: 107,415,871 (GRCm39) |
C231S |
probably damaging |
Het |
| Th |
A |
G |
7: 142,446,796 (GRCm39) |
L490P |
probably damaging |
Het |
| Tpcn1 |
C |
T |
5: 120,682,518 (GRCm39) |
G497S |
probably damaging |
Het |
| Trim10 |
A |
T |
17: 37,184,168 (GRCm39) |
I254F |
probably benign |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Vmn2r124 |
G |
T |
17: 18,294,439 (GRCm39) |
R842L |
probably benign |
Het |
| Vmn2r56 |
T |
C |
7: 12,428,632 (GRCm39) |
R545G |
probably damaging |
Het |
| Vmn2r84 |
T |
C |
10: 130,222,244 (GRCm39) |
T659A |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,852,803 (GRCm39) |
M2361T |
probably benign |
Het |
| Zfp217 |
T |
C |
2: 169,956,997 (GRCm39) |
D667G |
possibly damaging |
Het |
| Zfp952 |
T |
G |
17: 33,221,810 (GRCm39) |
C96W |
probably benign |
Het |
| Zfp959 |
A |
G |
17: 56,204,836 (GRCm39) |
Q291R |
possibly damaging |
Het |
| Zscan4-ps3 |
T |
C |
7: 11,344,414 (GRCm39) |
V124A |
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 |
|
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 |
|
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'- GCCTGTCTTCCTTGGAAAATTTG -3'
(R):5'- CAGTCCTGCAGAAGCTGTGTTAG -3'
Sequencing Primer
(F):5'- GCCATGGAGAGCATTTAG -3'
(R):5'- ACCATGCTTTAAAACCCTTTATAACC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation