Incidental Mutation 'R7194:Ankar'
| ID |
559758 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankar
|
| Ensembl Gene |
ENSMUSG00000039342 |
| Gene Name |
ankyrin and armadillo repeat containing |
| Synonyms |
4932422E22Rik |
| MMRRC Submission |
045335-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R7194 (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 T
at 72698192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 954
(I954N)
|
| 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: I954N
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: I954N
| 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: I953N
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212573
AA Change: I736N
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (70/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
A |
G |
8: 60,979,656 (GRCm39) |
I173V |
probably benign |
Het |
| Abi3bp |
C |
T |
16: 56,382,734 (GRCm39) |
R115C |
probably damaging |
Het |
| Adam18 |
A |
G |
8: 25,141,868 (GRCm39) |
S234P |
possibly damaging |
Het |
| Adam20 |
A |
G |
8: 41,249,449 (GRCm39) |
R520G |
probably benign |
Het |
| Angel2 |
C |
G |
1: 190,677,194 (GRCm39) |
T514R |
probably damaging |
Het |
| Ankrd7 |
A |
T |
6: 18,879,342 (GRCm39) |
Y262F |
probably benign |
Het |
| Ano8 |
C |
A |
8: 71,935,007 (GRCm39) |
L398F |
possibly damaging |
Het |
| App |
C |
T |
16: 84,822,319 (GRCm39) |
V356I |
probably benign |
Het |
| Atp1a2 |
C |
A |
1: 172,108,194 (GRCm39) |
E636* |
probably null |
Het |
| Cckbr |
G |
A |
7: 105,084,552 (GRCm39) |
E429K |
possibly damaging |
Het |
| Cfi |
T |
G |
3: 129,648,708 (GRCm39) |
S197R |
probably damaging |
Het |
| Chn2 |
A |
G |
6: 54,263,162 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
C |
A |
1: 45,370,860 (GRCm39) |
A405D |
unknown |
Het |
| Colec12 |
A |
T |
18: 9,848,248 (GRCm39) |
N142I |
probably benign |
Het |
| Copa |
T |
C |
1: 171,947,511 (GRCm39) |
L1109P |
probably damaging |
Het |
| Cpeb3 |
T |
A |
19: 37,152,152 (GRCm39) |
M75L |
probably benign |
Het |
| Cyp2d11 |
T |
C |
15: 82,275,969 (GRCm39) |
Y204C |
probably benign |
Het |
| Defa17 |
A |
G |
8: 22,146,613 (GRCm39) |
T80A |
probably benign |
Het |
| Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
| Dppa5a |
C |
T |
9: 78,275,002 (GRCm39) |
|
probably null |
Het |
| Fat4 |
G |
T |
3: 38,943,033 (GRCm39) |
S642I |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,038,044 (GRCm39) |
C3899S |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,641,482 (GRCm39) |
V1869A |
probably damaging |
Het |
| Gm10308 |
A |
T |
17: 91,396,389 (GRCm39) |
I104L |
unknown |
Het |
| Gpr139 |
C |
T |
7: 118,743,896 (GRCm39) |
A230T |
possibly damaging |
Het |
| Grm8 |
T |
C |
6: 27,618,486 (GRCm39) |
N452S |
probably benign |
Het |
| Hmox1 |
T |
C |
8: 75,823,551 (GRCm39) |
V73A |
probably benign |
Het |
| Hspa4 |
A |
G |
11: 53,156,765 (GRCm39) |
F641L |
probably damaging |
Het |
| Ifi207 |
T |
G |
1: 173,557,490 (GRCm39) |
H416P |
possibly damaging |
Het |
| Igkv10-96 |
G |
T |
6: 68,609,028 (GRCm39) |
T89K |
possibly damaging |
Het |
| Kmt2d |
A |
C |
15: 98,741,714 (GRCm39) |
V4482G |
unknown |
Het |
| Krt28 |
T |
A |
11: 99,265,230 (GRCm39) |
K146* |
probably null |
Het |
| Krt82 |
T |
C |
15: 101,451,191 (GRCm39) |
N406S |
probably damaging |
Het |
| Marveld3 |
A |
T |
8: 110,686,477 (GRCm39) |
|
probably null |
Het |
| Mllt6 |
C |
T |
11: 97,564,394 (GRCm39) |
S370L |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,585,750 (GRCm39) |
L26S |
unknown |
Het |
| Mup12 |
T |
A |
4: 60,696,734 (GRCm39) |
E48V |
probably benign |
Het |
| Myh1 |
G |
A |
11: 67,102,183 (GRCm39) |
V825I |
probably benign |
Het |
| Nipal3 |
G |
A |
4: 135,201,732 (GRCm39) |
T152I |
probably benign |
Het |
| Nrg3 |
A |
T |
14: 39,194,435 (GRCm39) |
M108K |
probably benign |
Het |
| Nup50l |
T |
G |
6: 96,141,756 (GRCm39) |
E429D |
probably benign |
Het |
| Oog3 |
A |
T |
4: 143,889,169 (GRCm39) |
I3N |
probably damaging |
Het |
| Or10d4c |
G |
A |
9: 39,558,387 (GRCm39) |
V122I |
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,827,792 (GRCm39) |
W122R |
|
Het |
| Pkhd1l1 |
T |
C |
15: 44,392,512 (GRCm39) |
C1616R |
probably damaging |
Het |
| Ppa2 |
T |
A |
3: 133,053,953 (GRCm39) |
|
probably null |
Het |
| Ppfibp2 |
T |
A |
7: 107,322,187 (GRCm39) |
|
probably null |
Het |
| Ppp4c |
T |
C |
7: 126,385,653 (GRCm39) |
N229D |
probably damaging |
Het |
| Ptpn9 |
T |
C |
9: 56,929,570 (GRCm39) |
F96L |
probably damaging |
Het |
| Pygl |
A |
G |
12: 70,241,094 (GRCm39) |
V742A |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,312,591 (GRCm39) |
T1104A |
probably benign |
Het |
| Rasal1 |
G |
A |
5: 120,813,557 (GRCm39) |
A644T |
probably benign |
Het |
| Rcor3 |
T |
A |
1: 191,810,261 (GRCm39) |
T139S |
possibly damaging |
Het |
| Rfx5 |
T |
A |
3: 94,862,454 (GRCm39) |
I37N |
probably damaging |
Het |
| Rnf112 |
C |
T |
11: 61,341,683 (GRCm39) |
G374R |
probably damaging |
Het |
| Rrp12 |
T |
C |
19: 41,859,979 (GRCm39) |
I1034V |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,447,538 (GRCm39) |
Y3195N |
possibly damaging |
Het |
| Scn4a |
A |
G |
11: 106,215,062 (GRCm39) |
I1243T |
probably benign |
Het |
| Sirt7 |
A |
T |
11: 120,509,799 (GRCm39) |
C362S |
probably benign |
Het |
| Slc17a6 |
T |
A |
7: 51,276,640 (GRCm39) |
S130T |
probably damaging |
Het |
| Snrnp48 |
A |
C |
13: 38,393,875 (GRCm39) |
Y60S |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,060,859 (GRCm39) |
E7260G |
probably damaging |
Het |
| Trbv15 |
C |
T |
6: 41,118,529 (GRCm39) |
T95I |
probably benign |
Het |
| Trip12 |
A |
T |
1: 84,771,943 (GRCm39) |
N68K |
probably benign |
Het |
| Ugcg |
A |
G |
4: 59,213,210 (GRCm39) |
Y132C |
probably damaging |
Het |
| Usp9y |
A |
T |
Y: 1,304,672 (GRCm39) |
C2391S |
probably damaging |
Het |
| Vmn1r103 |
C |
A |
7: 20,244,438 (GRCm39) |
V8L |
probably benign |
Het |
| Vmn2r15 |
T |
A |
5: 109,440,649 (GRCm39) |
N403I |
probably damaging |
Het |
| Zbtb11 |
T |
C |
16: 55,827,551 (GRCm39) |
S1006P |
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 |
|
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 |
|
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'- CACTCAGTGCATGTGTACTAGAC -3'
(R):5'- CACTCTTTTGAAGATGTGCTGAAG -3'
Sequencing Primer
(F):5'- GTGTACTAGACACATTACAGAT -3'
(R):5'- AGGCACTGTCCTCAGCTACAATTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation