Incidental Mutation 'R5069:Ankar'
ID |
388514 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankar
|
Ensembl Gene |
ENSMUSG00000039342 |
Gene Name |
ankyrin and armadillo repeat containing |
Synonyms |
4932422E22Rik |
MMRRC Submission |
042659-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R5069 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
72642980-72700579 bp(-) (GRCm38) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 72680210 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148640
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053499]
[ENSMUST00000053499]
[ENSMUST00000211837]
[ENSMUST00000211837]
[ENSMUST00000212573]
[ENSMUST00000212573]
|
AlphaFold |
A2RT91 |
Predicted Effect |
probably null
Transcript: ENSMUST00000053499
|
SMART Domains |
Protein: ENSMUSP00000054056 Gene: ENSMUSG00000039342
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 null
Transcript: ENSMUST00000053499
|
SMART Domains |
Protein: ENSMUSP00000054056 Gene: ENSMUSG00000039342
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 null
Transcript: ENSMUST00000211837
|
Predicted Effect |
probably null
Transcript: ENSMUST00000211837
|
Predicted Effect |
probably null
Transcript: ENSMUST00000212573
|
Predicted Effect |
probably null
Transcript: ENSMUST00000212573
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
A |
G |
14: 32,661,792 (GRCm38) |
S739P |
possibly damaging |
Het |
9330182L06Rik |
T |
A |
5: 9,440,897 (GRCm38) |
C636S |
probably damaging |
Het |
Actn2 |
A |
G |
13: 12,288,522 (GRCm38) |
I464T |
possibly damaging |
Het |
Adcy7 |
T |
C |
8: 88,327,697 (GRCm38) |
L1060P |
probably damaging |
Het |
Aff3 |
A |
G |
1: 38,181,613 (GRCm38) |
|
probably null |
Het |
Ankrd27 |
A |
T |
7: 35,628,435 (GRCm38) |
K793N |
probably damaging |
Het |
Arhgef28 |
T |
C |
13: 98,075,206 (GRCm38) |
T90A |
probably damaging |
Het |
Armc9 |
A |
T |
1: 86,257,237 (GRCm38) |
H670L |
probably benign |
Het |
Arvcf |
A |
G |
16: 18,398,986 (GRCm38) |
Y412C |
probably damaging |
Het |
Ass1 |
C |
T |
2: 31,510,173 (GRCm38) |
T301M |
probably damaging |
Het |
Baiap3 |
A |
T |
17: 25,249,108 (GRCm38) |
C283S |
probably damaging |
Het |
BC055324 |
T |
C |
1: 163,987,674 (GRCm38) |
T93A |
possibly damaging |
Het |
Birc6 |
C |
T |
17: 74,565,972 (GRCm38) |
R409C |
probably damaging |
Het |
Calcoco1 |
A |
G |
15: 102,711,092 (GRCm38) |
L354P |
probably damaging |
Het |
Cdh3 |
A |
G |
8: 106,536,826 (GRCm38) |
N126S |
probably benign |
Het |
Cfap54 |
A |
C |
10: 92,937,774 (GRCm38) |
F135L |
probably benign |
Het |
Dlg1 |
G |
T |
16: 31,684,295 (GRCm38) |
|
probably null |
Het |
Dnah3 |
T |
C |
7: 120,032,790 (GRCm38) |
H1314R |
probably benign |
Het |
Dsp |
A |
C |
13: 38,197,123 (GRCm38) |
T2615P |
possibly damaging |
Het |
Enpp2 |
T |
C |
15: 54,864,054 (GRCm38) |
Y513C |
probably damaging |
Het |
Ercc6 |
T |
C |
14: 32,570,063 (GRCm38) |
V1128A |
probably benign |
Het |
Gipc2 |
A |
G |
3: 152,094,248 (GRCm38) |
F282L |
probably benign |
Het |
Gm1043 |
T |
G |
5: 37,187,236 (GRCm38) |
L231R |
probably damaging |
Het |
Gm13178 |
T |
A |
4: 144,703,867 (GRCm38) |
D184V |
probably damaging |
Het |
Gm14085 |
A |
T |
2: 122,494,373 (GRCm38) |
N142I |
possibly damaging |
Het |
Gm14685 |
T |
C |
X: 73,127,971 (GRCm38) |
I323T |
probably damaging |
Het |
Gpr153 |
T |
A |
4: 152,279,883 (GRCm38) |
M132K |
probably damaging |
Het |
Hbs1l |
T |
A |
10: 21,354,647 (GRCm38) |
S496T |
probably damaging |
Het |
Inpp5f |
A |
G |
7: 128,676,727 (GRCm38) |
|
probably null |
Het |
Kat6a |
G |
A |
8: 22,903,133 (GRCm38) |
C209Y |
probably damaging |
Het |
Kcna2 |
T |
A |
3: 107,104,637 (GRCm38) |
V178D |
probably damaging |
Het |
Krt75 |
A |
G |
15: 101,566,238 (GRCm38) |
|
probably null |
Het |
Letm2 |
G |
A |
8: 25,593,964 (GRCm38) |
Q84* |
probably null |
Het |
Mib1 |
A |
G |
18: 10,793,002 (GRCm38) |
E646G |
probably damaging |
Het |
Mmp14 |
T |
A |
14: 54,439,113 (GRCm38) |
Y372N |
probably damaging |
Het |
Muc6 |
A |
G |
7: 141,651,299 (GRCm38) |
C218R |
probably damaging |
Het |
Myof |
A |
T |
19: 37,905,325 (GRCm38) |
I1130N |
possibly damaging |
Het |
Neil3 |
A |
G |
8: 53,601,041 (GRCm38) |
S318P |
possibly damaging |
Het |
Nhlh1 |
A |
G |
1: 172,053,900 (GRCm38) |
V133A |
probably benign |
Het |
Nup153 |
A |
C |
13: 46,709,792 (GRCm38) |
S331A |
probably benign |
Het |
Nup98 |
T |
C |
7: 102,145,655 (GRCm38) |
T882A |
probably benign |
Het |
Olfr1413 |
T |
A |
1: 92,573,413 (GRCm38) |
S81T |
probably damaging |
Het |
Olfr599 |
A |
T |
7: 103,338,022 (GRCm38) |
|
probably null |
Het |
Olfr744 |
T |
A |
14: 50,618,740 (GRCm38) |
C173S |
probably damaging |
Het |
Olfr749 |
C |
A |
14: 50,737,074 (GRCm38) |
L29F |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,997,037 (GRCm38) |
A91S |
probably damaging |
Het |
Pald1 |
A |
T |
10: 61,341,246 (GRCm38) |
M675K |
possibly damaging |
Het |
Pex5 |
A |
G |
6: 124,413,596 (GRCm38) |
S97P |
probably benign |
Het |
Pitpnm1 |
C |
T |
19: 4,111,140 (GRCm38) |
A897V |
probably benign |
Het |
Plxnd1 |
A |
T |
6: 115,965,901 (GRCm38) |
V1274E |
probably damaging |
Het |
Polr2a |
T |
C |
11: 69,736,735 (GRCm38) |
|
probably null |
Het |
Ppfia1 |
G |
A |
7: 144,514,473 (GRCm38) |
Q446* |
probably null |
Het |
Psma2 |
G |
A |
13: 14,616,028 (GRCm38) |
V20I |
probably benign |
Het |
Rhbdl2 |
T |
A |
4: 123,817,917 (GRCm38) |
L149* |
probably null |
Het |
Rnf17 |
T |
C |
14: 56,505,928 (GRCm38) |
V1317A |
probably damaging |
Het |
Rtel1 |
G |
A |
2: 181,355,492 (GRCm38) |
V1042M |
probably benign |
Het |
Sidt2 |
A |
T |
9: 45,939,461 (GRCm38) |
|
probably null |
Het |
Slc11a1 |
G |
A |
1: 74,385,184 (GRCm38) |
A434T |
probably damaging |
Het |
Slc4a10 |
G |
A |
2: 62,267,571 (GRCm38) |
R508H |
probably benign |
Het |
Slc5a8 |
A |
T |
10: 88,886,598 (GRCm38) |
I98F |
possibly damaging |
Het |
Slf2 |
T |
A |
19: 44,935,253 (GRCm38) |
S169T |
possibly damaging |
Het |
Snx33 |
A |
T |
9: 56,926,191 (GRCm38) |
I198N |
probably damaging |
Het |
Spock3 |
A |
G |
8: 63,355,265 (GRCm38) |
T396A |
probably benign |
Het |
Sva |
A |
T |
6: 42,038,417 (GRCm38) |
|
probably benign |
Het |
Syt7 |
A |
G |
19: 10,439,237 (GRCm38) |
N261S |
probably benign |
Het |
Taar7b |
T |
G |
10: 24,000,461 (GRCm38) |
S175A |
probably benign |
Het |
Thoc2 |
C |
T |
X: 41,806,693 (GRCm38) |
E1491K |
probably damaging |
Het |
Tlr1 |
T |
C |
5: 64,926,400 (GRCm38) |
Y278C |
probably benign |
Het |
Tph2 |
T |
A |
10: 115,151,174 (GRCm38) |
Y237F |
probably benign |
Het |
Trim35 |
C |
T |
14: 66,308,972 (GRCm38) |
|
probably benign |
Het |
Trpm4 |
T |
G |
7: 45,310,469 (GRCm38) |
Y667S |
probably damaging |
Het |
Ttc27 |
T |
A |
17: 74,799,342 (GRCm38) |
H541Q |
probably damaging |
Het |
Ube4a |
T |
C |
9: 44,940,089 (GRCm38) |
H709R |
probably damaging |
Het |
Vwa7 |
G |
A |
17: 35,024,190 (GRCm38) |
V615I |
probably benign |
Het |
Wars2 |
A |
G |
3: 99,187,533 (GRCm38) |
H48R |
probably damaging |
Het |
Xlr4c |
T |
A |
X: 73,238,684 (GRCm38) |
K121M |
probably damaging |
Het |
Zfc3h1 |
T |
A |
10: 115,418,783 (GRCm38) |
C1427* |
probably null |
Het |
|
Other mutations in Ankar |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00338:Ankar
|
APN |
1 |
72,690,131 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01013:Ankar
|
APN |
1 |
72,650,989 (GRCm38) |
missense |
possibly damaging |
0.90 |
IGL01135:Ankar
|
APN |
1 |
72,665,219 (GRCm38) |
missense |
probably benign |
0.28 |
IGL01824:Ankar
|
APN |
1 |
72,651,727 (GRCm38) |
missense |
probably benign |
0.40 |
IGL01885:Ankar
|
APN |
1 |
72,658,703 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01932:Ankar
|
APN |
1 |
72,698,987 (GRCm38) |
missense |
probably benign |
0.25 |
IGL02143:Ankar
|
APN |
1 |
72,658,649 (GRCm38) |
critical splice donor site |
probably null |
|
IGL02326:Ankar
|
APN |
1 |
72,666,355 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02445:Ankar
|
APN |
1 |
72,666,365 (GRCm38) |
missense |
probably benign |
0.05 |
IGL02606:Ankar
|
APN |
1 |
72,690,285 (GRCm38) |
missense |
possibly damaging |
0.61 |
IGL02635:Ankar
|
APN |
1 |
72,652,431 (GRCm38) |
missense |
possibly damaging |
0.93 |
IGL02680:Ankar
|
APN |
1 |
72,670,116 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02704:Ankar
|
APN |
1 |
72,652,343 (GRCm38) |
missense |
possibly damaging |
0.88 |
IGL03086:Ankar
|
APN |
1 |
72,643,278 (GRCm38) |
missense |
possibly damaging |
0.84 |
IGL03269:Ankar
|
APN |
1 |
72,665,201 (GRCm38) |
missense |
probably damaging |
0.99 |
IGL03368:Ankar
|
APN |
1 |
72,675,813 (GRCm38) |
missense |
probably damaging |
1.00 |
R0050:Ankar
|
UTSW |
1 |
72,656,164 (GRCm38) |
missense |
probably damaging |
1.00 |
R0050:Ankar
|
UTSW |
1 |
72,656,164 (GRCm38) |
missense |
probably damaging |
1.00 |
R0488:Ankar
|
UTSW |
1 |
72,658,732 (GRCm38) |
missense |
probably damaging |
1.00 |
R0650:Ankar
|
UTSW |
1 |
72,656,221 (GRCm38) |
splice site |
probably benign |
|
R1121:Ankar
|
UTSW |
1 |
72,651,663 (GRCm38) |
splice site |
probably null |
|
R1163:Ankar
|
UTSW |
1 |
72,688,705 (GRCm38) |
missense |
possibly damaging |
0.82 |
R1300:Ankar
|
UTSW |
1 |
72,643,164 (GRCm38) |
missense |
probably benign |
0.00 |
R1309:Ankar
|
UTSW |
1 |
72,674,004 (GRCm38) |
missense |
possibly damaging |
0.59 |
R1366:Ankar
|
UTSW |
1 |
72,698,649 (GRCm38) |
missense |
probably damaging |
1.00 |
R1456:Ankar
|
UTSW |
1 |
72,665,118 (GRCm38) |
missense |
probably benign |
0.34 |
R1495:Ankar
|
UTSW |
1 |
72,643,291 (GRCm38) |
missense |
probably benign |
|
R1583:Ankar
|
UTSW |
1 |
72,679,555 (GRCm38) |
splice site |
probably benign |
|
R1635:Ankar
|
UTSW |
1 |
72,650,138 (GRCm38) |
missense |
probably damaging |
0.99 |
R1975:Ankar
|
UTSW |
1 |
72,658,441 (GRCm38) |
missense |
possibly damaging |
0.95 |
R2036:Ankar
|
UTSW |
1 |
72,666,530 (GRCm38) |
nonsense |
probably null |
|
R2511:Ankar
|
UTSW |
1 |
72,658,694 (GRCm38) |
missense |
probably damaging |
1.00 |
R2965:Ankar
|
UTSW |
1 |
72,675,820 (GRCm38) |
missense |
probably benign |
0.00 |
R3404:Ankar
|
UTSW |
1 |
72,643,093 (GRCm38) |
nonsense |
probably null |
|
R3417:Ankar
|
UTSW |
1 |
72,658,976 (GRCm38) |
critical splice donor site |
probably null |
|
R4072:Ankar
|
UTSW |
1 |
72,688,592 (GRCm38) |
missense |
probably damaging |
1.00 |
R4231:Ankar
|
UTSW |
1 |
72,658,542 (GRCm38) |
missense |
probably benign |
0.23 |
R4447:Ankar
|
UTSW |
1 |
72,687,789 (GRCm38) |
missense |
possibly damaging |
0.60 |
R4632:Ankar
|
UTSW |
1 |
72,647,184 (GRCm38) |
missense |
probably benign |
0.01 |
R4720:Ankar
|
UTSW |
1 |
72,699,011 (GRCm38) |
missense |
possibly damaging |
0.55 |
R4754:Ankar
|
UTSW |
1 |
72,698,694 (GRCm38) |
missense |
probably damaging |
1.00 |
R4884:Ankar
|
UTSW |
1 |
72,698,807 (GRCm38) |
missense |
probably damaging |
0.97 |
R5068:Ankar
|
UTSW |
1 |
72,680,210 (GRCm38) |
splice site |
probably null |
|
R5070:Ankar
|
UTSW |
1 |
72,680,210 (GRCm38) |
splice site |
probably null |
|
R5189:Ankar
|
UTSW |
1 |
72,658,414 (GRCm38) |
missense |
probably benign |
0.01 |
R5247:Ankar
|
UTSW |
1 |
72,680,184 (GRCm38) |
missense |
probably benign |
0.08 |
R5322:Ankar
|
UTSW |
1 |
72,690,386 (GRCm38) |
splice site |
probably null |
|
R5345:Ankar
|
UTSW |
1 |
72,670,151 (GRCm38) |
missense |
possibly damaging |
0.94 |
R5864:Ankar
|
UTSW |
1 |
72,659,165 (GRCm38) |
missense |
probably benign |
0.00 |
R5976:Ankar
|
UTSW |
1 |
72,643,291 (GRCm38) |
missense |
probably benign |
|
R6003:Ankar
|
UTSW |
1 |
72,698,887 (GRCm38) |
missense |
probably damaging |
1.00 |
R6042:Ankar
|
UTSW |
1 |
72,674,054 (GRCm38) |
nonsense |
probably null |
|
R6296:Ankar
|
UTSW |
1 |
72,643,258 (GRCm38) |
missense |
probably damaging |
1.00 |
R6488:Ankar
|
UTSW |
1 |
72,681,808 (GRCm38) |
critical splice donor site |
probably null |
|
R6885:Ankar
|
UTSW |
1 |
72,643,036 (GRCm38) |
missense |
unknown |
|
R6985:Ankar
|
UTSW |
1 |
72,658,482 (GRCm38) |
missense |
probably damaging |
1.00 |
R7060:Ankar
|
UTSW |
1 |
72,656,113 (GRCm38) |
missense |
probably benign |
0.18 |
R7099:Ankar
|
UTSW |
1 |
72,643,293 (GRCm38) |
missense |
probably damaging |
0.99 |
R7194:Ankar
|
UTSW |
1 |
72,659,033 (GRCm38) |
missense |
probably benign |
0.32 |
R7221:Ankar
|
UTSW |
1 |
72,650,231 (GRCm38) |
missense |
probably damaging |
1.00 |
R7222:Ankar
|
UTSW |
1 |
72,666,355 (GRCm38) |
missense |
probably damaging |
0.99 |
R7258:Ankar
|
UTSW |
1 |
72,651,727 (GRCm38) |
missense |
probably benign |
0.40 |
R7303:Ankar
|
UTSW |
1 |
72,659,033 (GRCm38) |
missense |
probably benign |
0.32 |
R7308:Ankar
|
UTSW |
1 |
72,651,794 (GRCm38) |
nonsense |
probably null |
|
R7384:Ankar
|
UTSW |
1 |
72,658,465 (GRCm38) |
missense |
probably benign |
0.00 |
R7424:Ankar
|
UTSW |
1 |
72,680,058 (GRCm38) |
missense |
probably damaging |
1.00 |
R7464:Ankar
|
UTSW |
1 |
72,698,894 (GRCm38) |
missense |
possibly damaging |
0.94 |
R7525:Ankar
|
UTSW |
1 |
72,688,641 (GRCm38) |
missense |
probably benign |
0.18 |
R7618:Ankar
|
UTSW |
1 |
72,675,766 (GRCm38) |
missense |
probably benign |
0.22 |
R7659:Ankar
|
UTSW |
1 |
72,690,135 (GRCm38) |
missense |
possibly damaging |
0.95 |
R7974:Ankar
|
UTSW |
1 |
72,698,979 (GRCm38) |
nonsense |
probably null |
|
R8008:Ankar
|
UTSW |
1 |
72,666,484 (GRCm38) |
missense |
possibly damaging |
0.47 |
R8119:Ankar
|
UTSW |
1 |
72,647,001 (GRCm38) |
missense |
probably damaging |
0.98 |
R8244:Ankar
|
UTSW |
1 |
72,651,024 (GRCm38) |
missense |
probably benign |
|
R8342:Ankar
|
UTSW |
1 |
72,652,460 (GRCm38) |
missense |
probably damaging |
1.00 |
R8494:Ankar
|
UTSW |
1 |
72,658,794 (GRCm38) |
missense |
probably benign |
0.16 |
R8851:Ankar
|
UTSW |
1 |
72,652,376 (GRCm38) |
missense |
probably damaging |
1.00 |
R8970:Ankar
|
UTSW |
1 |
72,652,337 (GRCm38) |
critical splice donor site |
probably null |
|
R9228:Ankar
|
UTSW |
1 |
72,674,051 (GRCm38) |
missense |
probably benign |
0.27 |
R9511:Ankar
|
UTSW |
1 |
72,680,002 (GRCm38) |
missense |
probably benign |
0.23 |
R9577:Ankar
|
UTSW |
1 |
72,681,908 (GRCm38) |
missense |
probably benign |
0.02 |
R9612:Ankar
|
UTSW |
1 |
72,665,135 (GRCm38) |
missense |
possibly damaging |
0.65 |
R9647:Ankar
|
UTSW |
1 |
72,650,148 (GRCm38) |
missense |
probably damaging |
1.00 |
R9803:Ankar
|
UTSW |
1 |
72,659,181 (GRCm38) |
missense |
possibly damaging |
0.47 |
Z1176:Ankar
|
UTSW |
1 |
72,689,961 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- GATGAAGCGTCTCTGGTTGAC -3'
(R):5'- ACTATGACTTTAGCGTTGTTCAGG -3'
Sequencing Primer
(F):5'- TTGAAGTTGGCGCTCCACAG -3'
(R):5'- TTCAGGGGGAAGCTCTTCAC -3'
|
Posted On |
2016-06-06 |