Incidental Mutation 'R1495:Ankar'
| ID |
168751 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankar
|
| Ensembl Gene |
ENSMUSG00000039342 |
| Gene Name |
ankyrin and armadillo repeat containing |
| Synonyms |
4932422E22Rik |
| MMRRC Submission |
039546-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R1495 (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 C
at 72682450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1154
(T1154A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053499]
[ENSMUST00000211837]
[ENSMUST00000212573]
|
| AlphaFold |
A2RT91 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053499
AA Change: T1372A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: T1372A
| 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: T1371A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211909
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212057
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212573
AA Change: T1154A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,614,356 (GRCm39) |
N488S |
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,665,593 (GRCm39) |
R383C |
probably damaging |
Het |
| Acsm2 |
A |
G |
7: 119,177,349 (GRCm39) |
D263G |
probably damaging |
Het |
| Adcy2 |
G |
T |
13: 68,944,654 (GRCm39) |
Q243K |
probably benign |
Het |
| Aggf1 |
G |
A |
13: 95,492,921 (GRCm39) |
R563* |
probably null |
Het |
| Agt |
A |
G |
8: 125,286,194 (GRCm39) |
F296S |
probably damaging |
Het |
| Akap14 |
T |
C |
X: 36,427,618 (GRCm39) |
D39G |
possibly damaging |
Het |
| Akt3 |
T |
C |
1: 176,930,608 (GRCm39) |
M117V |
probably benign |
Het |
| Arvcf |
T |
A |
16: 18,207,251 (GRCm39) |
L70Q |
probably damaging |
Het |
| Ccdc171 |
A |
T |
4: 83,599,332 (GRCm39) |
K724* |
probably null |
Het |
| Ccdc91 |
A |
G |
6: 147,435,670 (GRCm39) |
T85A |
possibly damaging |
Het |
| Ccdc9b |
T |
G |
2: 118,591,013 (GRCm39) |
K173N |
probably damaging |
Het |
| Cdh3 |
C |
T |
8: 107,265,629 (GRCm39) |
T224I |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,426,876 (GRCm39) |
I482V |
probably benign |
Het |
| Cnot9 |
A |
G |
1: 74,562,759 (GRCm39) |
E176G |
probably damaging |
Het |
| Cntnap4 |
T |
G |
8: 113,608,395 (GRCm39) |
L1272V |
possibly damaging |
Het |
| Cyb5a |
T |
A |
18: 84,869,605 (GRCm39) |
M1K |
probably null |
Het |
| Cyp2c23 |
A |
G |
19: 43,993,947 (GRCm39) |
I473T |
probably benign |
Het |
| Dbil5 |
T |
A |
11: 76,109,276 (GRCm39) |
M60K |
probably benign |
Het |
| Defa38 |
T |
A |
8: 21,585,217 (GRCm39) |
Q75L |
probably benign |
Het |
| Dgkg |
A |
T |
16: 22,319,129 (GRCm39) |
L644Q |
probably damaging |
Het |
| Disp3 |
T |
C |
4: 148,334,282 (GRCm39) |
I1004V |
probably benign |
Het |
| Egf |
T |
A |
3: 129,506,655 (GRCm39) |
I599F |
probably damaging |
Het |
| Epc2 |
A |
G |
2: 49,426,675 (GRCm39) |
T145A |
probably damaging |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Extl3 |
A |
T |
14: 65,313,316 (GRCm39) |
V622E |
probably benign |
Het |
| Fam227a |
C |
T |
15: 79,510,446 (GRCm39) |
V403I |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,153,499 (GRCm39) |
D3571V |
probably benign |
Het |
| Fcho2 |
A |
G |
13: 98,886,358 (GRCm39) |
|
probably null |
Het |
| Fras1 |
A |
G |
5: 96,676,445 (GRCm39) |
N64S |
possibly damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,366,832 (GRCm39) |
N352S |
possibly damaging |
Het |
| Gabra1 |
T |
C |
11: 42,045,771 (GRCm39) |
N113S |
probably damaging |
Het |
| Glg1 |
T |
C |
8: 111,924,307 (GRCm39) |
Y227C |
probably damaging |
Het |
| Gm5141 |
A |
T |
13: 62,922,084 (GRCm39) |
C362S |
probably damaging |
Het |
| Gprc6a |
T |
A |
10: 51,504,533 (GRCm39) |
T104S |
probably benign |
Het |
| Jph1 |
A |
C |
1: 17,161,876 (GRCm39) |
V262G |
probably benign |
Het |
| Kank1 |
C |
G |
19: 25,387,713 (GRCm39) |
T434R |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,704,325 (GRCm39) |
S1173G |
possibly damaging |
Het |
| Krt75 |
G |
A |
15: 101,482,308 (GRCm39) |
|
probably benign |
Het |
| Lyzl1 |
G |
T |
18: 4,181,192 (GRCm39) |
W77L |
probably null |
Het |
| Nipbl |
T |
G |
15: 8,380,764 (GRCm39) |
N676T |
probably benign |
Het |
| Obscn |
C |
T |
11: 58,970,986 (GRCm39) |
S2300N |
probably damaging |
Het |
| Or9a2 |
T |
G |
6: 41,748,837 (GRCm39) |
Y132S |
probably damaging |
Het |
| Osbpl1a |
T |
A |
18: 12,891,896 (GRCm39) |
M350L |
probably benign |
Het |
| Pecam1 |
T |
C |
11: 106,579,682 (GRCm39) |
D460G |
probably damaging |
Het |
| Pik3c2a |
T |
A |
7: 115,987,300 (GRCm39) |
K540N |
probably benign |
Het |
| Prdm12 |
T |
A |
2: 31,530,205 (GRCm39) |
I32N |
probably damaging |
Het |
| Prkd1 |
T |
C |
12: 50,413,135 (GRCm39) |
S679G |
probably damaging |
Het |
| Psen2 |
C |
T |
1: 180,056,419 (GRCm39) |
A393T |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,583,888 (GRCm39) |
T235S |
probably benign |
Het |
| Ranbp3 |
C |
T |
17: 57,012,527 (GRCm39) |
P182L |
probably benign |
Het |
| Serpinb7 |
A |
T |
1: 107,379,390 (GRCm39) |
K266* |
probably null |
Het |
| Sesn3 |
T |
C |
9: 14,219,817 (GRCm39) |
S69P |
probably damaging |
Het |
| Slc12a6 |
T |
C |
2: 112,184,535 (GRCm39) |
M818T |
probably damaging |
Het |
| Slc25a53 |
C |
A |
X: 135,916,084 (GRCm39) |
C4F |
unknown |
Het |
| Snx1 |
T |
A |
9: 66,003,879 (GRCm39) |
L255F |
probably benign |
Het |
| Sptbn2 |
T |
G |
19: 4,769,004 (GRCm39) |
S46A |
possibly damaging |
Het |
| Taf4 |
A |
G |
2: 179,574,820 (GRCm39) |
F595S |
probably damaging |
Het |
| Tec |
A |
T |
5: 72,944,098 (GRCm39) |
V103E |
probably damaging |
Het |
| Tmco5b |
T |
C |
2: 113,121,136 (GRCm39) |
S147P |
possibly damaging |
Het |
| Uchl5 |
C |
T |
1: 143,675,675 (GRCm39) |
T93I |
possibly damaging |
Het |
| Usp14 |
A |
T |
18: 10,004,994 (GRCm39) |
S225T |
probably benign |
Het |
| Usp45 |
C |
A |
4: 21,797,385 (GRCm39) |
Q238K |
possibly damaging |
Het |
| Vmn1r6 |
T |
A |
6: 56,980,058 (GRCm39) |
M218K |
possibly damaging |
Het |
| Zfp84 |
T |
A |
7: 29,476,728 (GRCm39) |
Y473* |
probably null |
Het |
| Zyg11b |
G |
A |
4: 108,123,410 (GRCm39) |
P186S |
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 |
|
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 |
|
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'- GGCGTTCTGTTCATCTTTCCCAAGT -3'
(R):5'- CCTTAGAAAAGGGCCAATGACAGTGTAT -3'
Sequencing Primer
(F):5'- TGTTCAAAAATGCTGGAGGGTC -3'
(R):5'- tagcctcagtgaccccc -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation