Incidental Mutation 'R4231:Ankar'
ID |
320816 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankar
|
Ensembl Gene |
ENSMUSG00000039342 |
Gene Name |
ankyrin and armadillo repeat containing |
Synonyms |
4932422E22Rik |
MMRRC Submission |
041050-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R4231 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
72682139-72739738 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72697701 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1034
(D1034G)
|
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: D1034G
PolyPhen 2
Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000054056 Gene: ENSMUSG00000039342 AA Change: D1034G
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: D1033G
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212573
AA Change: D816G
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
Meta Mutation Damage Score |
0.1094 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
99% (75/76) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
Akap6 |
A |
T |
12: 53,187,821 (GRCm39) |
D1745V |
probably damaging |
Het |
Aldh5a1 |
C |
T |
13: 25,095,636 (GRCm39) |
G494R |
probably damaging |
Het |
Aox3 |
T |
A |
1: 58,154,044 (GRCm39) |
N23K |
probably benign |
Het |
Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
possibly damaging |
Het |
Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
Bltp1 |
C |
T |
3: 36,974,385 (GRCm39) |
T663I |
probably benign |
Het |
Cacnb2 |
A |
G |
2: 14,986,251 (GRCm39) |
K343E |
probably damaging |
Het |
Casp8 |
T |
C |
1: 58,883,929 (GRCm39) |
V432A |
probably damaging |
Het |
Cd93 |
A |
T |
2: 148,284,880 (GRCm39) |
H155Q |
probably benign |
Het |
Cox6b2 |
T |
C |
7: 4,755,834 (GRCm39) |
M1V |
probably null |
Het |
Crat |
T |
C |
2: 30,303,023 (GRCm39) |
E88G |
possibly damaging |
Het |
Ddx1 |
C |
T |
12: 13,273,858 (GRCm39) |
V590I |
possibly damaging |
Het |
Dip2a |
G |
A |
10: 76,155,304 (GRCm39) |
P94S |
probably damaging |
Het |
Dtx3 |
A |
G |
10: 127,029,058 (GRCm39) |
I60T |
possibly damaging |
Het |
Filip1l |
T |
C |
16: 57,327,131 (GRCm39) |
S54P |
probably benign |
Het |
Gm12887 |
A |
T |
4: 121,479,299 (GRCm39) |
M1K |
probably null |
Het |
Gm26678 |
T |
C |
3: 54,540,504 (GRCm39) |
|
noncoding transcript |
Het |
Impg1 |
A |
G |
9: 80,252,611 (GRCm39) |
L523P |
probably damaging |
Het |
Insyn2b |
A |
T |
11: 34,353,143 (GRCm39) |
E395V |
probably benign |
Het |
Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
Irak2 |
A |
G |
6: 113,667,817 (GRCm39) |
E466G |
probably damaging |
Het |
Irgm2 |
C |
T |
11: 58,110,304 (GRCm39) |
|
probably benign |
Het |
Jak3 |
T |
A |
8: 72,138,189 (GRCm39) |
V880D |
probably damaging |
Het |
Jmy |
G |
T |
13: 93,635,433 (GRCm39) |
P128T |
probably benign |
Het |
Kif20a |
A |
G |
18: 34,765,091 (GRCm39) |
N775S |
probably benign |
Het |
Kremen1 |
G |
A |
11: 5,193,881 (GRCm39) |
Q50* |
probably null |
Het |
Lrrc71 |
A |
G |
3: 87,648,298 (GRCm39) |
I438T |
probably benign |
Het |
Map3k1 |
T |
C |
13: 111,905,028 (GRCm39) |
T374A |
probably benign |
Het |
Med12l |
T |
G |
3: 59,164,644 (GRCm39) |
|
probably null |
Het |
Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
Mta1 |
T |
C |
12: 113,099,447 (GRCm39) |
M603T |
possibly damaging |
Het |
Myo5a |
A |
G |
9: 75,097,279 (GRCm39) |
N1319S |
possibly damaging |
Het |
Nalcn |
T |
A |
14: 123,837,325 (GRCm39) |
Q13L |
probably benign |
Het |
Nbas |
A |
G |
12: 13,443,344 (GRCm39) |
N1133S |
probably damaging |
Het |
Nsun2 |
A |
G |
13: 69,767,660 (GRCm39) |
N205D |
probably damaging |
Het |
Nxpe4 |
A |
T |
9: 48,310,137 (GRCm39) |
T467S |
probably damaging |
Het |
Or13a20 |
T |
C |
7: 140,232,653 (GRCm39) |
Y254H |
probably damaging |
Het |
Or4f17-ps1 |
C |
T |
2: 111,358,546 (GRCm39) |
R314C |
probably damaging |
Het |
Or7g30 |
T |
A |
9: 19,352,886 (GRCm39) |
L226I |
probably damaging |
Het |
Pam |
A |
G |
1: 97,811,849 (GRCm39) |
|
probably null |
Het |
Pcdh7 |
G |
A |
5: 57,876,631 (GRCm39) |
G62D |
possibly damaging |
Het |
Plxna2 |
C |
T |
1: 194,326,762 (GRCm39) |
T232I |
probably damaging |
Het |
Prkar1b |
A |
G |
5: 139,094,376 (GRCm39) |
S71P |
probably benign |
Het |
Ptprq |
A |
T |
10: 107,522,144 (GRCm39) |
Y602* |
probably null |
Het |
Rfx4 |
A |
T |
10: 84,650,558 (GRCm39) |
M84L |
probably benign |
Het |
Rfx7 |
A |
T |
9: 72,526,672 (GRCm39) |
E1287D |
possibly damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rnf216 |
A |
T |
5: 143,078,845 (GRCm39) |
S35T |
probably damaging |
Het |
Rps6kc1 |
A |
G |
1: 190,541,097 (GRCm39) |
V402A |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sart3 |
A |
G |
5: 113,909,479 (GRCm39) |
M73T |
probably benign |
Het |
Scn10a |
G |
T |
9: 119,460,610 (GRCm39) |
T1088K |
probably damaging |
Het |
Senp2 |
T |
C |
16: 21,830,304 (GRCm39) |
|
probably null |
Het |
Setd7 |
T |
C |
3: 51,450,151 (GRCm39) |
N92D |
probably benign |
Het |
Sipa1 |
A |
T |
19: 5,704,117 (GRCm39) |
L735Q |
probably damaging |
Het |
Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
Slitrk6 |
A |
T |
14: 110,988,820 (GRCm39) |
S296T |
probably benign |
Het |
Spc24 |
T |
C |
9: 21,667,498 (GRCm39) |
|
probably null |
Het |
Tex15 |
T |
C |
8: 34,062,165 (GRCm39) |
S806P |
probably damaging |
Het |
Tgm3 |
A |
T |
2: 129,886,509 (GRCm39) |
K577* |
probably null |
Het |
Wscd2 |
A |
G |
5: 113,699,045 (GRCm39) |
D200G |
probably benign |
Het |
Xpo6 |
T |
C |
7: 125,773,354 (GRCm39) |
T24A |
possibly damaging |
Het |
Zfhx2 |
A |
G |
14: 55,310,991 (GRCm39) |
C568R |
possibly damaging |
Het |
Zfp599 |
T |
A |
9: 22,161,041 (GRCm39) |
K375* |
probably null |
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 |
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'- GGCAATTACTACTTCTCTACCCAAG -3'
(R):5'- CCTTGGCAGGACAAACATTGAAAC -3'
Sequencing Primer
(F):5'- TCAGAAGTGTGCCTTCTG -3'
(R):5'- TATATGGCAGAGCAGATTGGATAC -3'
|
Posted On |
2015-06-12 |