Incidental Mutation 'R6885:Ankar'
ID |
536762 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankar
|
Ensembl Gene |
ENSMUSG00000039342 |
Gene Name |
ankyrin and armadillo repeat containing |
Synonyms |
4932422E22Rik |
MMRRC Submission |
045031-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R6885 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
72682139-72739738 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 72682195 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 1239
(A1239T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148640
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053499]
[ENSMUST00000211837]
[ENSMUST00000212573]
|
AlphaFold |
A2RT91 |
Predicted Effect |
unknown
Transcript: ENSMUST00000053499
AA Change: A1457T
|
SMART Domains |
Protein: ENSMUSP00000054056 Gene: ENSMUSG00000039342 AA Change: A1457T
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 |
unknown
Transcript: ENSMUST00000211837
AA Change: A1456T
|
Predicted Effect |
unknown
Transcript: ENSMUST00000212573
AA Change: A1239T
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
98% (58/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
G |
7: 120,119,332 (GRCm39) |
I1025M |
probably benign |
Het |
Adamtsl5 |
T |
A |
10: 80,179,465 (GRCm39) |
T164S |
probably benign |
Het |
Aox4 |
A |
T |
1: 58,303,537 (GRCm39) |
S1192C |
probably damaging |
Het |
Atl2 |
T |
C |
17: 80,159,982 (GRCm39) |
D68G |
probably damaging |
Het |
Btnl4 |
T |
C |
17: 34,691,919 (GRCm39) |
I228V |
probably benign |
Het |
Catsper4 |
T |
C |
4: 133,942,460 (GRCm39) |
T231A |
probably benign |
Het |
Ccl12 |
A |
T |
11: 81,993,523 (GRCm39) |
T54S |
probably damaging |
Het |
Cntn1 |
T |
C |
15: 92,140,980 (GRCm39) |
|
probably null |
Het |
Cog5 |
T |
A |
12: 31,944,198 (GRCm39) |
D694E |
probably damaging |
Het |
Crat |
T |
A |
2: 30,305,208 (GRCm39) |
|
probably benign |
Het |
Crot |
T |
C |
5: 9,023,635 (GRCm39) |
T418A |
probably benign |
Het |
Cubn |
G |
A |
2: 13,323,089 (GRCm39) |
P2826L |
probably damaging |
Het |
Dnah17 |
A |
G |
11: 117,981,598 (GRCm39) |
F1698L |
possibly damaging |
Het |
Dock8 |
T |
A |
19: 25,124,742 (GRCm39) |
D1019E |
possibly damaging |
Het |
Eps15 |
A |
G |
4: 109,166,361 (GRCm39) |
N85D |
probably damaging |
Het |
Exoc1 |
T |
C |
5: 76,706,889 (GRCm39) |
S457P |
probably damaging |
Het |
Ext1 |
G |
A |
15: 52,965,088 (GRCm39) |
T426I |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,405,489 (GRCm39) |
S747P |
possibly damaging |
Het |
Gas7 |
A |
G |
11: 67,574,213 (GRCm39) |
D396G |
probably damaging |
Het |
Gm5114 |
G |
T |
7: 39,057,580 (GRCm39) |
R680S |
probably benign |
Het |
Gpcpd1 |
A |
T |
2: 132,395,994 (GRCm39) |
L94M |
possibly damaging |
Het |
Gse1 |
C |
A |
8: 120,956,221 (GRCm39) |
|
probably benign |
Het |
Hmgb1 |
T |
C |
5: 148,987,471 (GRCm39) |
E26G |
probably benign |
Het |
Incenp |
C |
T |
19: 9,852,496 (GRCm39) |
R714Q |
unknown |
Het |
Krt73 |
T |
C |
15: 101,704,833 (GRCm39) |
E351G |
probably damaging |
Het |
Ksr1 |
A |
G |
11: 78,938,121 (GRCm39) |
|
probably null |
Het |
Lpin2 |
T |
G |
17: 71,522,145 (GRCm39) |
S60A |
probably damaging |
Het |
Lrrc71 |
T |
C |
3: 87,649,927 (GRCm39) |
|
probably null |
Het |
Mafb |
A |
G |
2: 160,207,939 (GRCm39) |
S220P |
possibly damaging |
Het |
Maml3 |
TCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC |
TCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC |
3: 51,605,000 (GRCm39) |
|
|
Het |
Mcmbp |
T |
C |
7: 128,326,833 (GRCm39) |
|
probably null |
Het |
Or1e30 |
A |
T |
11: 73,677,926 (GRCm39) |
H54L |
possibly damaging |
Het |
Or4s2 |
A |
G |
2: 88,473,941 (GRCm39) |
T277A |
probably damaging |
Het |
Paqr9 |
T |
C |
9: 95,442,096 (GRCm39) |
S29P |
probably benign |
Het |
Parm1 |
A |
G |
5: 91,742,069 (GRCm39) |
T146A |
possibly damaging |
Het |
Pgm2 |
T |
A |
5: 64,261,221 (GRCm39) |
F238L |
probably benign |
Het |
Pigv |
A |
T |
4: 133,392,792 (GRCm39) |
F126Y |
probably damaging |
Het |
Pitx2 |
T |
C |
3: 129,012,257 (GRCm39) |
M222T |
probably damaging |
Het |
Plekhg6 |
T |
C |
6: 125,355,693 (GRCm39) |
N37S |
probably benign |
Het |
Pramel25 |
T |
C |
4: 143,520,103 (GRCm39) |
C116R |
probably damaging |
Het |
Psme4 |
A |
T |
11: 30,784,307 (GRCm39) |
K961* |
probably null |
Het |
Rbpj |
T |
C |
5: 53,810,493 (GRCm39) |
W392R |
probably damaging |
Het |
Reg3a |
T |
A |
6: 78,358,038 (GRCm39) |
|
probably null |
Het |
Rfc3 |
C |
T |
5: 151,571,749 (GRCm39) |
S85N |
probably benign |
Het |
Rtn3 |
T |
C |
19: 7,435,696 (GRCm39) |
T80A |
probably benign |
Het |
Sash1 |
T |
C |
10: 8,659,985 (GRCm39) |
T195A |
probably damaging |
Het |
Ska1 |
A |
G |
18: 74,339,910 (GRCm39) |
V12A |
probably benign |
Het |
Slc25a1 |
A |
G |
16: 17,745,294 (GRCm39) |
V80A |
probably benign |
Het |
Slc26a5 |
A |
T |
5: 22,039,342 (GRCm39) |
V217D |
probably damaging |
Het |
Slc46a1 |
A |
G |
11: 78,357,805 (GRCm39) |
D286G |
probably benign |
Het |
Spata2l |
A |
T |
8: 123,962,297 (GRCm39) |
L88Q |
probably damaging |
Het |
Sptbn1 |
T |
G |
11: 30,088,634 (GRCm39) |
Q876P |
probably benign |
Het |
Tenm2 |
T |
A |
11: 35,914,407 (GRCm39) |
I2377F |
possibly damaging |
Het |
Thbs4 |
A |
T |
13: 92,899,377 (GRCm39) |
D539E |
probably damaging |
Het |
Tmem154 |
T |
A |
3: 84,599,813 (GRCm39) |
C162S |
possibly damaging |
Het |
Tpcn1 |
T |
C |
5: 120,682,502 (GRCm39) |
E502G |
probably benign |
Het |
Traf7 |
G |
A |
17: 24,731,266 (GRCm39) |
R257C |
probably benign |
Het |
Tsc22d2 |
T |
C |
3: 58,323,629 (GRCm39) |
Y174H |
probably damaging |
Het |
Usp8 |
A |
G |
2: 126,594,230 (GRCm39) |
E802G |
probably damaging |
Het |
Vmn1r5 |
T |
C |
6: 56,963,042 (GRCm39) |
V239A |
possibly damaging |
Het |
Vmn2r99 |
T |
A |
17: 19,600,457 (GRCm39) |
S494T |
possibly damaging |
Het |
Zbtb38 |
A |
G |
9: 96,568,517 (GRCm39) |
F856L |
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 |
|
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'- CCATGTGAAATTCTGGGAAGAAATC -3'
(R):5'- CTAACGTCAAGGAGCTCTTCAGAAC -3'
Sequencing Primer
(F):5'- CATTCCCTGAAGATGCTG -3'
(R):5'- GTCAAGGAGCTCTTCAGAACAACAC -3'
|
Posted On |
2018-10-18 |