Incidental Mutation 'R1300:Ankar'
ID |
158270 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankar
|
Ensembl Gene |
ENSMUSG00000039342 |
Gene Name |
ankyrin and armadillo repeat containing |
Synonyms |
4932422E22Rik |
MMRRC Submission |
039366-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R1300 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
72682139-72739738 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 72682323 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 1414
(V1414G)
|
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: V1414G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000054056 Gene: ENSMUSG00000039342 AA Change: V1414G
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: V1413G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211909
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212057
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212573
AA Change: V1196G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
G |
1: 71,283,967 (GRCm39) |
I2535T |
probably damaging |
Het |
Adam34l |
A |
T |
8: 44,079,881 (GRCm39) |
Y114* |
probably null |
Het |
Ank3 |
A |
G |
10: 69,840,495 (GRCm39) |
I952V |
probably benign |
Het |
Arl2 |
A |
G |
19: 6,191,103 (GRCm39) |
M10T |
probably benign |
Het |
Arpp21 |
A |
G |
9: 111,972,442 (GRCm39) |
I352T |
probably damaging |
Het |
Cacna1e |
T |
A |
1: 154,274,419 (GRCm39) |
H2162L |
probably benign |
Het |
Cep170b |
A |
C |
12: 112,703,691 (GRCm39) |
M622L |
probably benign |
Het |
Cped1 |
T |
C |
6: 22,119,552 (GRCm39) |
V337A |
probably benign |
Het |
Cpn2 |
T |
A |
16: 30,078,481 (GRCm39) |
T407S |
probably benign |
Het |
Cpne4 |
T |
C |
9: 104,870,333 (GRCm39) |
W263R |
probably damaging |
Het |
Crtc1 |
A |
G |
8: 70,840,189 (GRCm39) |
|
probably null |
Het |
Cspg4b |
T |
C |
13: 113,502,694 (GRCm39) |
F133S |
probably damaging |
Het |
Dennd5a |
A |
T |
7: 109,518,614 (GRCm39) |
I485N |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,101,692 (GRCm39) |
Q1892R |
probably benign |
Het |
Dse |
G |
A |
10: 34,028,411 (GRCm39) |
A893V |
probably benign |
Het |
Dsg1a |
T |
G |
18: 20,465,206 (GRCm39) |
S466A |
probably benign |
Het |
Dstyk |
T |
C |
1: 132,377,651 (GRCm39) |
V419A |
probably benign |
Het |
Eif2ak4 |
T |
C |
2: 118,294,464 (GRCm39) |
V1125A |
possibly damaging |
Het |
Ep400 |
C |
A |
5: 110,821,426 (GRCm39) |
G2576C |
probably damaging |
Het |
Eps15l1 |
A |
T |
8: 73,145,746 (GRCm39) |
D162E |
probably damaging |
Het |
Fstl4 |
C |
A |
11: 52,959,454 (GRCm39) |
T165N |
probably benign |
Het |
Gm8674 |
T |
C |
13: 50,055,758 (GRCm39) |
|
noncoding transcript |
Het |
Gtsf2 |
T |
A |
15: 103,352,780 (GRCm39) |
L39F |
possibly damaging |
Het |
Hck |
A |
C |
2: 152,976,067 (GRCm39) |
D202A |
possibly damaging |
Het |
Il12b |
T |
A |
11: 44,298,903 (GRCm39) |
|
probably null |
Het |
Irf4 |
T |
C |
13: 30,941,568 (GRCm39) |
L307P |
probably damaging |
Het |
Keg1 |
G |
A |
19: 12,696,368 (GRCm39) |
R184Q |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,610,452 (GRCm39) |
D218G |
probably damaging |
Het |
Map1b |
T |
C |
13: 99,569,029 (GRCm39) |
K1231E |
unknown |
Het |
Mapkbp1 |
T |
C |
2: 119,844,136 (GRCm39) |
Y293H |
probably benign |
Het |
Mfsd8 |
A |
T |
3: 40,778,333 (GRCm39) |
D310E |
probably benign |
Het |
Mmp9 |
A |
T |
2: 164,790,876 (GRCm39) |
D88V |
probably damaging |
Het |
Muc5ac |
G |
T |
7: 141,370,666 (GRCm39) |
C2522F |
possibly damaging |
Het |
Myo1e |
A |
T |
9: 70,209,065 (GRCm39) |
I110F |
probably damaging |
Het |
Neu1 |
A |
T |
17: 35,153,314 (GRCm39) |
Y279F |
possibly damaging |
Het |
Nhsl1 |
A |
G |
10: 18,284,209 (GRCm39) |
H50R |
probably benign |
Het |
Nlrp3 |
C |
T |
11: 59,446,594 (GRCm39) |
S780F |
possibly damaging |
Het |
Npc1l1 |
T |
G |
11: 6,177,859 (GRCm39) |
D517A |
probably damaging |
Het |
Or14c43 |
T |
C |
7: 86,114,951 (GRCm39) |
F111L |
probably benign |
Het |
Or1e32 |
T |
C |
11: 73,705,072 (GRCm39) |
T279A |
probably benign |
Het |
Or2z2 |
T |
C |
11: 58,346,667 (GRCm39) |
Y36C |
probably damaging |
Het |
Or52e3 |
G |
A |
7: 102,869,324 (GRCm39) |
R133Q |
probably benign |
Het |
P3h2 |
C |
A |
16: 25,815,986 (GRCm39) |
E176* |
probably null |
Het |
Parp10 |
C |
A |
15: 76,126,190 (GRCm39) |
D333Y |
possibly damaging |
Het |
Pcdhb12 |
C |
T |
18: 37,570,450 (GRCm39) |
A532V |
possibly damaging |
Het |
Pde2a |
A |
T |
7: 101,159,611 (GRCm39) |
T818S |
possibly damaging |
Het |
Phf11 |
A |
T |
14: 59,488,563 (GRCm39) |
V78D |
probably damaging |
Het |
Phip |
A |
T |
9: 82,758,800 (GRCm39) |
L1450Q |
probably benign |
Het |
Pinx1 |
A |
G |
14: 64,156,859 (GRCm39) |
E262G |
probably benign |
Het |
Ppargc1a |
T |
C |
5: 51,706,014 (GRCm39) |
E19G |
probably damaging |
Het |
Pum1 |
T |
C |
4: 130,493,272 (GRCm39) |
I921T |
probably damaging |
Het |
Rgs22 |
T |
A |
15: 36,101,908 (GRCm39) |
H106L |
probably benign |
Het |
Slc10a6 |
T |
C |
5: 103,754,550 (GRCm39) |
D327G |
probably benign |
Het |
Syt1 |
A |
T |
10: 108,467,682 (GRCm39) |
V205D |
possibly damaging |
Het |
Tep1 |
C |
T |
14: 51,064,512 (GRCm39) |
|
probably null |
Het |
Thnsl2 |
T |
A |
6: 71,111,175 (GRCm39) |
Q231L |
probably damaging |
Het |
Ttc4 |
T |
A |
4: 106,524,763 (GRCm39) |
H304L |
probably damaging |
Het |
Unc5c |
G |
A |
3: 141,534,304 (GRCm39) |
V923M |
possibly damaging |
Het |
Zfp777 |
T |
C |
6: 48,002,704 (GRCm39) |
E506G |
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 |
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 |
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'- TGTGGGCTCTTAACTCAGCATATCAAC -3'
(R):5'- GTGGCCTTCTTACTTCCAGGGAAAG -3'
Sequencing Primer
(F):5'- GCCATTCCCTGAAGATGCTG -3'
(R):5'- TTCTTACTTCCAGGGAAAGAGCAC -3'
|
Posted On |
2014-02-18 |