Incidental Mutation 'R7060:Ankar'
| ID |
548159 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankar
|
| Ensembl Gene |
ENSMUSG00000039342 |
| Gene Name |
ankyrin and armadillo repeat containing |
| Synonyms |
4932422E22Rik |
| MMRRC Submission |
045157-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R7060 (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 72695272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 893
(N893K)
|
| 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: N1111K
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: N1111K
| 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: N1110K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212573
AA Change: N893K
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
96% (78/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
T |
A |
9: 44,186,425 (GRCm39) |
T535S |
probably benign |
Het |
| Adamts19 |
A |
T |
18: 58,970,712 (GRCm39) |
R99* |
probably null |
Het |
| Alg6 |
C |
T |
4: 99,650,198 (GRCm39) |
L473F |
possibly damaging |
Het |
| Ankrd54 |
G |
A |
15: 78,939,739 (GRCm39) |
A183V |
possibly damaging |
Het |
| Anpep |
G |
T |
7: 79,491,542 (GRCm39) |
T153K |
probably benign |
Het |
| Arap1 |
A |
G |
7: 101,058,564 (GRCm39) |
|
probably null |
Het |
| Aspg |
A |
T |
12: 112,089,387 (GRCm39) |
T392S |
probably benign |
Het |
| B230307C23Rik |
A |
C |
16: 97,811,331 (GRCm39) |
R68S |
probably benign |
Het |
| Bdp1 |
G |
C |
13: 100,196,002 (GRCm39) |
N1253K |
probably damaging |
Het |
| Ccrl2 |
G |
A |
9: 110,884,682 (GRCm39) |
S272F |
probably damaging |
Het |
| Cdon |
T |
C |
9: 35,398,205 (GRCm39) |
L974P |
probably damaging |
Het |
| Celsr1 |
C |
A |
15: 85,916,856 (GRCm39) |
E372D |
probably benign |
Het |
| Cers1 |
A |
T |
8: 70,768,555 (GRCm39) |
M16L |
possibly damaging |
Het |
| Col2a1 |
G |
T |
15: 97,874,022 (GRCm39) |
Q1387K |
unknown |
Het |
| Ddx39b |
G |
A |
17: 35,471,726 (GRCm39) |
V291M |
probably damaging |
Het |
| Dppa2 |
T |
A |
16: 48,136,076 (GRCm39) |
S143T |
probably benign |
Het |
| Dpy19l1 |
A |
T |
9: 24,334,419 (GRCm39) |
M583K |
possibly damaging |
Het |
| Eno3 |
A |
T |
11: 70,552,245 (GRCm39) |
D299V |
possibly damaging |
Het |
| Epha8 |
C |
T |
4: 136,658,469 (GRCm39) |
V969M |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,791,358 (GRCm39) |
H873L |
probably benign |
Het |
| Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
| Fntb |
A |
C |
12: 76,934,649 (GRCm39) |
N173T |
possibly damaging |
Het |
| Gins2 |
T |
A |
8: 121,308,880 (GRCm39) |
M125L |
probably benign |
Het |
| Gys1 |
G |
A |
7: 45,089,437 (GRCm39) |
A199T |
probably damaging |
Het |
| Herpud1 |
C |
A |
8: 95,117,391 (GRCm39) |
H116N |
probably benign |
Het |
| Hoga1 |
C |
A |
19: 42,048,685 (GRCm39) |
Y134* |
probably null |
Het |
| Il10ra |
A |
G |
9: 45,167,522 (GRCm39) |
I343T |
probably benign |
Het |
| Inava |
T |
C |
1: 136,147,935 (GRCm39) |
K339R |
possibly damaging |
Het |
| Inpp5j |
C |
T |
11: 3,450,133 (GRCm39) |
|
probably null |
Het |
| Itpkb |
T |
C |
1: 180,160,695 (GRCm39) |
S274P |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 34,177,418 (GRCm39) |
C249Y |
probably damaging |
Het |
| Klhl35 |
G |
C |
7: 99,117,665 (GRCm39) |
A70P |
possibly damaging |
Het |
| Lhx1 |
A |
G |
11: 84,411,108 (GRCm39) |
|
probably null |
Het |
| Lmbrd1 |
T |
C |
1: 24,732,047 (GRCm39) |
V88A |
probably benign |
Het |
| Macc1 |
T |
G |
12: 119,411,190 (GRCm39) |
L653V |
probably damaging |
Het |
| Madd |
T |
C |
2: 91,007,452 (GRCm39) |
D220G |
probably damaging |
Het |
| Mllt10 |
T |
A |
2: 18,164,371 (GRCm39) |
H300Q |
possibly damaging |
Het |
| Mlxipl |
G |
A |
5: 135,161,169 (GRCm39) |
A363T |
possibly damaging |
Het |
| Mus81 |
G |
T |
19: 5,537,821 (GRCm39) |
D78E |
probably benign |
Het |
| Mxd1 |
A |
T |
6: 86,630,141 (GRCm39) |
L26M |
probably damaging |
Het |
| Nhsl1 |
C |
T |
10: 18,402,251 (GRCm39) |
T1159M |
probably damaging |
Het |
| Nos1ap |
A |
G |
1: 170,165,694 (GRCm39) |
S190P |
possibly damaging |
Het |
| Nwd1 |
A |
C |
8: 73,393,322 (GRCm39) |
D195A |
probably damaging |
Het |
| Or12d13 |
G |
T |
17: 37,647,352 (GRCm39) |
T257N |
probably benign |
Het |
| Or6k4 |
A |
T |
1: 173,964,376 (GRCm39) |
D22V |
probably benign |
Het |
| Or8c14-ps1 |
G |
A |
9: 38,101,392 (GRCm39) |
V124I |
probably damaging |
Het |
| Or8k24 |
T |
A |
2: 86,216,569 (GRCm39) |
R64S |
possibly damaging |
Het |
| Otof |
T |
C |
5: 30,545,700 (GRCm39) |
D500G |
possibly damaging |
Het |
| Pcgf5 |
T |
A |
19: 36,420,339 (GRCm39) |
Y190* |
probably null |
Het |
| Pdcd11 |
C |
T |
19: 47,099,418 (GRCm39) |
T839I |
probably benign |
Het |
| Ppard |
G |
C |
17: 28,517,886 (GRCm39) |
S318T |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,597,970 (GRCm39) |
K178E |
probably damaging |
Het |
| Ppm1n |
G |
T |
7: 19,013,187 (GRCm39) |
R255S |
probably damaging |
Het |
| Ppp1r21 |
A |
G |
17: 88,887,972 (GRCm39) |
Y693C |
probably damaging |
Het |
| Ppp2r5d |
A |
T |
17: 46,998,279 (GRCm39) |
V169E |
possibly damaging |
Het |
| Prc1 |
A |
T |
7: 79,954,121 (GRCm39) |
T53S |
probably benign |
Het |
| Pwp2 |
A |
C |
10: 78,009,084 (GRCm39) |
|
probably null |
Het |
| Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
| Ring1 |
A |
G |
17: 34,242,364 (GRCm39) |
C48R |
probably damaging |
Het |
| Rpap1 |
T |
C |
2: 119,604,043 (GRCm39) |
D496G |
probably damaging |
Het |
| Rspo4 |
C |
A |
2: 151,714,998 (GRCm39) |
Q212K |
unknown |
Het |
| Samd9l |
T |
A |
6: 3,372,716 (GRCm39) |
D1515V |
probably damaging |
Het |
| Serinc3 |
T |
C |
2: 163,478,879 (GRCm39) |
T83A |
probably benign |
Het |
| Setd5 |
A |
C |
6: 113,094,343 (GRCm39) |
D420A |
probably damaging |
Het |
| Sidt2 |
T |
C |
9: 45,864,544 (GRCm39) |
T62A |
possibly damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,652,101 (GRCm39) |
V621A |
probably damaging |
Het |
| Srcin1 |
A |
G |
11: 97,464,711 (GRCm39) |
L12P |
probably damaging |
Het |
| Stx18 |
G |
A |
5: 38,278,599 (GRCm39) |
D165N |
possibly damaging |
Het |
| Sumf2 |
A |
G |
5: 129,883,341 (GRCm39) |
K139E |
possibly damaging |
Het |
| Tdo2 |
A |
T |
3: 81,876,866 (GRCm39) |
I102N |
probably damaging |
Het |
| Tdp1 |
T |
A |
12: 99,877,947 (GRCm39) |
S410T |
probably benign |
Het |
| Tmem94 |
A |
T |
11: 115,683,764 (GRCm39) |
I726F |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,795,742 (GRCm39) |
E1192G |
probably damaging |
Het |
| Ttc8 |
T |
C |
12: 98,909,726 (GRCm39) |
I52T |
probably benign |
Het |
| Vmn2r99 |
A |
T |
17: 19,614,826 (GRCm39) |
R849* |
probably null |
Het |
| Wwc1 |
T |
C |
11: 35,806,003 (GRCm39) |
K77E |
possibly damaging |
Het |
| Xirp2 |
A |
T |
2: 67,345,952 (GRCm39) |
E2731V |
probably damaging |
Het |
| Zfp1006 |
A |
C |
8: 129,945,613 (GRCm39) |
I404R |
probably benign |
Het |
| Zfp423 |
G |
A |
8: 88,509,507 (GRCm39) |
T258I |
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 |
|
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'- GAAACAGTGCCATGCAACG -3'
(R):5'- AGCCAAGCTAAGTTTTGACTCTAC -3'
Sequencing Primer
(F):5'- GGAAGCTATTCTATGAATACACAGTG -3'
(R):5'- CCATGACCTCATTGACCT -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation