Incidental Mutation 'R6985:Ankar'
| ID |
542882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankar
|
| Ensembl Gene |
ENSMUSG00000039342 |
| Gene Name |
ankyrin and armadillo repeat containing |
| Synonyms |
4932422E22Rik |
| MMRRC Submission |
045092-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R6985 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
72642980-72700579 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 72658482 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 836
(L836R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053499]
[ENSMUST00000211837]
[ENSMUST00000212573]
|
| AlphaFold |
A2RT91 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053499
AA Change: L1054R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054056
Gene: ENSMUSG00000039342
AA Change: L1054R
| 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 damaging
Transcript: ENSMUST00000211837
AA Change: L1053R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212573
AA Change: L836R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.4%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akirin1 |
A |
G |
4: 123,736,856 (GRCm38) |
*192R |
probably null |
Het |
| Anxa7 |
G |
T |
14: 20,471,568 (GRCm38) |
A20E |
unknown |
Het |
| Arhgap1 |
T |
A |
2: 91,668,198 (GRCm38) |
Y147N |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,370,148 (GRCm38) |
V714A |
probably benign |
Het |
| Arrdc3 |
T |
C |
13: 80,883,657 (GRCm38) |
L3P |
probably damaging |
Het |
| Bhmt2 |
T |
C |
13: 93,663,322 (GRCm38) |
D202G |
possibly damaging |
Het |
| Bub1b |
A |
G |
2: 118,606,614 (GRCm38) |
R98G |
probably damaging |
Het |
| Capn10 |
T |
C |
1: 92,943,424 (GRCm38) |
Y319H |
probably damaging |
Het |
| Cep95 |
T |
C |
11: 106,818,703 (GRCm38) |
F115S |
probably damaging |
Het |
| Chsy3 |
A |
T |
18: 59,176,488 (GRCm38) |
|
probably null |
Het |
| Cnot1 |
T |
C |
8: 95,734,129 (GRCm38) |
N1755S |
probably benign |
Het |
| Cntn4 |
A |
G |
6: 106,679,417 (GRCm38) |
N893S |
probably benign |
Het |
| Ctsh |
G |
A |
9: 90,054,604 (GRCm38) |
A19T |
possibly damaging |
Het |
| Cttn |
C |
A |
7: 144,452,587 (GRCm38) |
E214* |
probably null |
Het |
| Des |
A |
G |
1: 75,366,787 (GRCm38) |
E438G |
possibly damaging |
Het |
| Dnaja4 |
T |
C |
9: 54,708,395 (GRCm38) |
V109A |
probably benign |
Het |
| Dock1 |
A |
G |
7: 135,163,403 (GRCm38) |
E1708G |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,190,853 (GRCm38) |
I2184T |
probably benign |
Het |
| Enc1 |
C |
T |
13: 97,245,120 (GRCm38) |
T46I |
possibly damaging |
Het |
| Etaa1 |
A |
G |
11: 17,946,108 (GRCm38) |
S670P |
probably damaging |
Het |
| Fam168b |
G |
A |
1: 34,819,708 (GRCm38) |
T131M |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,068,388 (GRCm38) |
V1319E |
probably damaging |
Het |
| Fcrl1 |
T |
A |
3: 87,389,650 (GRCm38) |
V302E |
probably benign |
Het |
| Fgfr3 |
G |
C |
5: 33,735,441 (GRCm38) |
E744Q |
probably null |
Het |
| Gmps |
T |
A |
3: 64,015,539 (GRCm38) |
I641N |
probably damaging |
Het |
| Gpc2 |
T |
A |
5: 138,278,408 (GRCm38) |
Y152F |
probably damaging |
Het |
| Herc2 |
G |
A |
7: 56,106,453 (GRCm38) |
R747H |
possibly damaging |
Het |
| Herc2 |
A |
G |
7: 56,132,480 (GRCm38) |
D1305G |
probably damaging |
Het |
| Ighv1-37 |
T |
C |
12: 114,896,632 (GRCm38) |
T14A |
probably benign |
Het |
| Insr |
T |
A |
8: 3,161,372 (GRCm38) |
M1156L |
possibly damaging |
Het |
| Kirrel2 |
C |
A |
7: 30,455,306 (GRCm38) |
G127C |
probably damaging |
Het |
| Krt10 |
T |
C |
11: 99,385,630 (GRCm38) |
N65S |
possibly damaging |
Het |
| Lrig3 |
A |
G |
10: 126,014,869 (GRCm38) |
I1101M |
possibly damaging |
Het |
| Lrrc55 |
T |
G |
2: 85,191,930 (GRCm38) |
N306H |
probably benign |
Het |
| Map4k3 |
A |
G |
17: 80,636,732 (GRCm38) |
S329P |
probably damaging |
Het |
| Mapkap1 |
T |
G |
2: 34,432,110 (GRCm38) |
H13Q |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,713,865 (GRCm38) |
L60S |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,751,999 (GRCm38) |
M626L |
probably benign |
Het |
| Mycbp2 |
C |
T |
14: 103,206,681 (GRCm38) |
V1914I |
possibly damaging |
Het |
| Myo5b |
T |
C |
18: 74,653,361 (GRCm38) |
F442L |
possibly damaging |
Het |
| Naa35 |
T |
A |
13: 59,627,943 (GRCm38) |
M545K |
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,481,245 (GRCm38) |
V645E |
probably damaging |
Het |
| Olfr313 |
T |
C |
11: 58,817,113 (GRCm38) |
F35S |
probably damaging |
Het |
| Olfr619 |
A |
G |
7: 103,603,668 (GRCm38) |
T5A |
probably benign |
Het |
| Otx1 |
A |
T |
11: 21,996,615 (GRCm38) |
Y231* |
probably null |
Het |
| Pcdhb19 |
A |
G |
18: 37,497,158 (GRCm38) |
E2G |
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 116,417,988 (GRCm38) |
T178I |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,237,708 (GRCm38) |
S613P |
probably damaging |
Het |
| Pon1 |
T |
G |
6: 5,168,345 (GRCm38) |
D354A |
probably benign |
Het |
| Prtg |
T |
G |
9: 72,851,501 (GRCm38) |
I379S |
probably damaging |
Het |
| Rbm17 |
T |
G |
2: 11,590,693 (GRCm38) |
M234L |
probably benign |
Het |
| Rex1bd |
T |
C |
8: 70,505,905 (GRCm38) |
S71G |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,772,154 (GRCm38) |
S441L |
probably benign |
Het |
| Samd7 |
G |
C |
3: 30,751,123 (GRCm38) |
K18N |
probably benign |
Het |
| Shank1 |
A |
G |
7: 44,344,913 (GRCm38) |
I833V |
unknown |
Het |
| Slc35f1 |
C |
A |
10: 53,021,911 (GRCm38) |
D139E |
probably benign |
Het |
| Spata31d1a |
T |
C |
13: 59,703,093 (GRCm38) |
N407S |
probably benign |
Het |
| Spata31d1d |
T |
A |
13: 59,731,615 (GRCm38) |
I36F |
probably benign |
Het |
| Sstr4 |
T |
A |
2: 148,396,249 (GRCm38) |
M260K |
probably damaging |
Het |
| Tcrg-V6 |
G |
T |
13: 19,190,644 (GRCm38) |
G40W |
possibly damaging |
Het |
| Ticam1 |
C |
T |
17: 56,269,900 (GRCm38) |
E732K |
probably benign |
Het |
| Trat1 |
A |
G |
16: 48,754,271 (GRCm38) |
Y55H |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,679,956 (GRCm38) |
T3124A |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 33,099,117 (GRCm38) |
F1385Y |
possibly damaging |
Het |
| Xrcc3 |
T |
C |
12: 111,812,096 (GRCm38) |
D7G |
probably damaging |
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 |
|
|
R5069: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 |
|
|
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'- TCTTTTGCAACAAAGGCCAC -3'
(R):5'- AAGATGCAGTATGTAGGTAAGTTGC -3'
Sequencing Primer
(F):5'- TGTCACCATTTTAACTGACCAAG -3'
(R):5'- GGTAAGTTGCTTTCTTTGCATAAC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation