Incidental Mutation 'R5175:Anks1'
ID |
399221 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Anks1
|
Ensembl Gene |
ENSMUSG00000024219 |
Gene Name |
ankyrin repeat and SAM domain containing 1 |
Synonyms |
Odin |
MMRRC Submission |
042755-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5175 (G1)
|
Quality Score |
206 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
28128280-28281749 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 28261562 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 694
(Q694L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085344
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025058]
[ENSMUST00000088027]
[ENSMUST00000114842]
|
AlphaFold |
P59672 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025058
AA Change: Q715L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000025058 Gene: ENSMUSG00000024219 AA Change: Q715L
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
62 |
N/A |
INTRINSIC |
ANK
|
75 |
104 |
1.08e-5 |
SMART |
ANK
|
108 |
137 |
7.42e-4 |
SMART |
ANK
|
165 |
194 |
1.88e-5 |
SMART |
ANK
|
198 |
227 |
1.93e-2 |
SMART |
ANK
|
231 |
260 |
1.64e-5 |
SMART |
ANK
|
263 |
292 |
7.71e-2 |
SMART |
low complexity region
|
419 |
439 |
N/A |
INTRINSIC |
low complexity region
|
633 |
647 |
N/A |
INTRINSIC |
SAM
|
709 |
778 |
3.2e-16 |
SMART |
SAM
|
783 |
851 |
4.33e-13 |
SMART |
Blast:PTB
|
861 |
919 |
2e-22 |
BLAST |
PTB
|
953 |
1087 |
3.17e-43 |
SMART |
low complexity region
|
1126 |
1135 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000088027
AA Change: Q694L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000085344 Gene: ENSMUSG00000024219 AA Change: Q694L
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
62 |
N/A |
INTRINSIC |
ANK
|
75 |
104 |
1.08e-5 |
SMART |
ANK
|
108 |
137 |
7.42e-4 |
SMART |
ANK
|
144 |
173 |
1.88e-5 |
SMART |
ANK
|
177 |
206 |
1.93e-2 |
SMART |
ANK
|
210 |
239 |
1.64e-5 |
SMART |
ANK
|
242 |
271 |
7.71e-2 |
SMART |
low complexity region
|
398 |
418 |
N/A |
INTRINSIC |
low complexity region
|
612 |
626 |
N/A |
INTRINSIC |
SAM
|
688 |
757 |
3.2e-16 |
SMART |
SAM
|
762 |
830 |
4.33e-13 |
SMART |
Blast:PTB
|
840 |
898 |
2e-22 |
BLAST |
PTB
|
932 |
1066 |
3.17e-43 |
SMART |
low complexity region
|
1105 |
1114 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114842
AA Change: Q715L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000110491 Gene: ENSMUSG00000024219 AA Change: Q715L
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
62 |
N/A |
INTRINSIC |
ANK
|
75 |
104 |
1.08e-5 |
SMART |
ANK
|
108 |
137 |
7.42e-4 |
SMART |
ANK
|
165 |
194 |
1.88e-5 |
SMART |
ANK
|
198 |
227 |
1.93e-2 |
SMART |
ANK
|
231 |
260 |
1.64e-5 |
SMART |
ANK
|
263 |
292 |
7.71e-2 |
SMART |
low complexity region
|
419 |
439 |
N/A |
INTRINSIC |
low complexity region
|
633 |
647 |
N/A |
INTRINSIC |
SAM
|
709 |
778 |
3.2e-16 |
SMART |
SAM
|
783 |
851 |
4.33e-13 |
SMART |
Blast:PTB
|
861 |
919 |
2e-22 |
BLAST |
PTB
|
953 |
1087 |
3.17e-43 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139173
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit a normal phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr2 |
A |
C |
11: 20,030,114 (GRCm39) |
M215R |
probably benign |
Het |
Ago2 |
A |
T |
15: 72,996,067 (GRCm39) |
I354K |
possibly damaging |
Het |
Angel2 |
T |
A |
1: 190,673,081 (GRCm39) |
C72* |
probably null |
Het |
Ank2 |
T |
A |
3: 126,797,673 (GRCm39) |
H679L |
probably damaging |
Het |
Aox3 |
C |
T |
1: 58,211,487 (GRCm39) |
P1015S |
probably benign |
Het |
Arhgap35 |
C |
A |
7: 16,296,524 (GRCm39) |
R847L |
probably damaging |
Het |
Bag4 |
C |
A |
8: 26,258,379 (GRCm39) |
C316F |
probably damaging |
Het |
Camkv |
T |
A |
9: 107,824,581 (GRCm39) |
I258N |
probably damaging |
Het |
Cpt1c |
G |
A |
7: 44,620,781 (GRCm39) |
A28V |
probably damaging |
Het |
Cyp2j13 |
A |
T |
4: 95,956,452 (GRCm39) |
M219K |
possibly damaging |
Het |
Dclk1 |
G |
T |
3: 55,154,648 (GRCm39) |
R26L |
possibly damaging |
Het |
Diras2 |
A |
T |
13: 52,662,007 (GRCm39) |
I100N |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,448,550 (GRCm39) |
N4204K |
probably damaging |
Het |
Dnase1l3 |
T |
A |
14: 7,987,386 (GRCm38) |
K55* |
probably null |
Het |
Dusp6 |
A |
G |
10: 99,099,864 (GRCm39) |
D104G |
possibly damaging |
Het |
Eif5b |
A |
G |
1: 38,084,468 (GRCm39) |
T819A |
probably damaging |
Het |
Elfn2 |
A |
T |
15: 78,558,073 (GRCm39) |
L158H |
probably damaging |
Het |
Erp44 |
T |
C |
4: 48,196,823 (GRCm39) |
T367A |
probably benign |
Het |
Fasn |
A |
T |
11: 120,707,195 (GRCm39) |
D843E |
probably benign |
Het |
Fbxw25 |
T |
C |
9: 109,493,631 (GRCm39) |
Y20C |
probably damaging |
Het |
Fer1l6 |
G |
A |
15: 58,422,126 (GRCm39) |
G108E |
probably damaging |
Het |
Fndc7 |
C |
T |
3: 108,776,482 (GRCm39) |
V520I |
probably benign |
Het |
Gm17019 |
A |
G |
5: 15,082,817 (GRCm39) |
W46R |
possibly damaging |
Het |
Gorab |
G |
T |
1: 163,214,214 (GRCm39) |
Q239K |
probably damaging |
Het |
Gsdma2 |
A |
G |
11: 98,543,438 (GRCm39) |
T76A |
probably benign |
Het |
Hnrnpll |
A |
C |
17: 80,341,499 (GRCm39) |
C513W |
possibly damaging |
Het |
Ifrd2 |
T |
C |
9: 107,467,824 (GRCm39) |
L170P |
probably damaging |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Kcnma1 |
A |
G |
14: 23,386,106 (GRCm39) |
|
probably null |
Het |
Kcnn3 |
T |
C |
3: 89,516,746 (GRCm39) |
F385S |
probably damaging |
Het |
Kif18a |
T |
G |
2: 109,133,323 (GRCm39) |
|
probably null |
Het |
Llgl2 |
A |
G |
11: 115,741,547 (GRCm39) |
K559R |
probably damaging |
Het |
Lrrc8a |
T |
C |
2: 30,145,524 (GRCm39) |
C113R |
probably damaging |
Het |
Mgat5 |
A |
G |
1: 127,387,649 (GRCm39) |
N535S |
probably damaging |
Het |
Myh15 |
T |
G |
16: 48,889,789 (GRCm39) |
W127G |
possibly damaging |
Het |
Npsr1 |
A |
G |
9: 24,046,111 (GRCm39) |
R77G |
probably benign |
Het |
Nub1 |
T |
A |
5: 24,907,446 (GRCm39) |
S376R |
probably benign |
Het |
Or14c44 |
T |
C |
7: 86,062,254 (GRCm39) |
V228A |
probably benign |
Het |
Or4d10c |
G |
A |
19: 12,065,926 (GRCm39) |
P77S |
probably damaging |
Het |
Or4k47 |
A |
T |
2: 111,451,771 (GRCm39) |
I216N |
possibly damaging |
Het |
Or5al6 |
T |
C |
2: 85,976,301 (GRCm39) |
Y259C |
probably damaging |
Het |
Or9i2 |
G |
A |
19: 13,815,680 (GRCm39) |
P286S |
probably damaging |
Het |
Pcdh9 |
A |
G |
14: 94,125,879 (GRCm39) |
L97P |
probably damaging |
Het |
Pkn2 |
A |
G |
3: 142,504,684 (GRCm39) |
Y831H |
probably damaging |
Het |
Plcz1 |
T |
G |
6: 139,985,389 (GRCm39) |
I51L |
possibly damaging |
Het |
Plekhg1 |
T |
C |
10: 3,915,516 (GRCm39) |
|
probably benign |
Het |
Prdm9 |
A |
T |
17: 15,777,713 (GRCm39) |
S124T |
probably benign |
Het |
Prkag1 |
A |
C |
15: 98,713,596 (GRCm39) |
V33G |
possibly damaging |
Het |
Rab25 |
T |
A |
3: 88,450,728 (GRCm39) |
Y57F |
possibly damaging |
Het |
Rb1cc1 |
A |
G |
1: 6,318,545 (GRCm39) |
I638V |
probably benign |
Het |
Rest |
C |
A |
5: 77,416,219 (GRCm39) |
D144E |
probably damaging |
Het |
Rpa2 |
A |
G |
4: 132,505,151 (GRCm39) |
D260G |
probably damaging |
Het |
Sf3b3 |
A |
G |
8: 111,560,467 (GRCm39) |
V425A |
probably benign |
Het |
Sidt2 |
A |
T |
9: 45,863,086 (GRCm39) |
M15K |
probably damaging |
Het |
Slc22a17 |
A |
G |
14: 55,144,748 (GRCm39) |
L555P |
probably damaging |
Het |
Smoc2 |
A |
G |
17: 14,595,719 (GRCm39) |
D282G |
possibly damaging |
Het |
Sorcs3 |
G |
A |
19: 48,748,284 (GRCm39) |
|
probably null |
Het |
Spmap2l |
C |
T |
5: 77,164,317 (GRCm39) |
P107S |
probably benign |
Het |
Srcin1 |
A |
G |
11: 97,464,703 (GRCm39) |
W15R |
probably damaging |
Het |
Stra6l |
A |
G |
4: 45,870,860 (GRCm39) |
T259A |
probably benign |
Het |
Ube3a |
T |
C |
7: 58,938,465 (GRCm39) |
F741S |
probably damaging |
Het |
Vasp |
C |
A |
7: 18,998,594 (GRCm39) |
M54I |
probably benign |
Het |
Vmn1r174 |
A |
T |
7: 23,454,153 (GRCm39) |
H273L |
probably benign |
Het |
Vmn2r50 |
T |
A |
7: 9,771,644 (GRCm39) |
I686F |
probably damaging |
Het |
Vmn2r76 |
T |
C |
7: 85,877,915 (GRCm39) |
E494G |
probably benign |
Het |
Zfp788 |
A |
G |
7: 41,298,753 (GRCm39) |
E443G |
probably damaging |
Het |
|
Other mutations in Anks1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00471:Anks1
|
APN |
17 |
28,277,390 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL00816:Anks1
|
APN |
17 |
28,278,367 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00940:Anks1
|
APN |
17 |
28,276,328 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01306:Anks1
|
APN |
17 |
28,205,227 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01485:Anks1
|
APN |
17 |
28,270,558 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02059:Anks1
|
APN |
17 |
28,227,020 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL02220:Anks1
|
APN |
17 |
28,273,681 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02955:Anks1
|
APN |
17 |
28,273,291 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03071:Anks1
|
APN |
17 |
28,227,173 (GRCm39) |
missense |
probably benign |
0.37 |
ANU23:Anks1
|
UTSW |
17 |
28,205,227 (GRCm39) |
missense |
probably damaging |
1.00 |
G1Funyon:Anks1
|
UTSW |
17 |
28,278,554 (GRCm39) |
intron |
probably benign |
|
R0389:Anks1
|
UTSW |
17 |
28,214,926 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1221:Anks1
|
UTSW |
17 |
28,269,616 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1523:Anks1
|
UTSW |
17 |
28,270,629 (GRCm39) |
splice site |
probably null |
|
R1639:Anks1
|
UTSW |
17 |
28,277,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R1816:Anks1
|
UTSW |
17 |
28,205,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R1981:Anks1
|
UTSW |
17 |
28,204,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R1982:Anks1
|
UTSW |
17 |
28,204,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R2041:Anks1
|
UTSW |
17 |
28,227,388 (GRCm39) |
missense |
probably damaging |
1.00 |
R2099:Anks1
|
UTSW |
17 |
28,197,465 (GRCm39) |
critical splice donor site |
probably null |
|
R2897:Anks1
|
UTSW |
17 |
28,204,337 (GRCm39) |
critical splice donor site |
probably null |
|
R2965:Anks1
|
UTSW |
17 |
28,272,879 (GRCm39) |
missense |
probably benign |
|
R3624:Anks1
|
UTSW |
17 |
28,205,262 (GRCm39) |
missense |
probably damaging |
0.99 |
R4671:Anks1
|
UTSW |
17 |
28,270,552 (GRCm39) |
missense |
probably benign |
0.45 |
R4786:Anks1
|
UTSW |
17 |
28,271,704 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4871:Anks1
|
UTSW |
17 |
28,210,351 (GRCm39) |
missense |
probably benign |
0.00 |
R4936:Anks1
|
UTSW |
17 |
28,207,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R5908:Anks1
|
UTSW |
17 |
28,214,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R5975:Anks1
|
UTSW |
17 |
28,210,421 (GRCm39) |
splice site |
probably null |
|
R6226:Anks1
|
UTSW |
17 |
28,276,304 (GRCm39) |
missense |
probably benign |
0.01 |
R6306:Anks1
|
UTSW |
17 |
28,269,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R6332:Anks1
|
UTSW |
17 |
28,271,709 (GRCm39) |
missense |
probably benign |
|
R6891:Anks1
|
UTSW |
17 |
28,276,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R6995:Anks1
|
UTSW |
17 |
28,273,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R7465:Anks1
|
UTSW |
17 |
28,273,297 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7502:Anks1
|
UTSW |
17 |
28,227,114 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7749:Anks1
|
UTSW |
17 |
28,257,115 (GRCm39) |
missense |
probably damaging |
0.96 |
R7943:Anks1
|
UTSW |
17 |
28,204,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R8005:Anks1
|
UTSW |
17 |
28,278,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R8190:Anks1
|
UTSW |
17 |
28,205,778 (GRCm39) |
missense |
probably benign |
0.01 |
R8301:Anks1
|
UTSW |
17 |
28,278,554 (GRCm39) |
intron |
probably benign |
|
R8476:Anks1
|
UTSW |
17 |
28,273,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R8754:Anks1
|
UTSW |
17 |
28,214,984 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9258:Anks1
|
UTSW |
17 |
28,277,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R9381:Anks1
|
UTSW |
17 |
28,272,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R9386:Anks1
|
UTSW |
17 |
28,272,880 (GRCm39) |
missense |
probably benign |
0.03 |
R9547:Anks1
|
UTSW |
17 |
28,270,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R9710:Anks1
|
UTSW |
17 |
28,128,571 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9801:Anks1
|
UTSW |
17 |
28,227,033 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCCTGCCTGTACAGAGAAG -3'
(R):5'- TCAGTTACCCAGCTGACTTCCG -3'
Sequencing Primer
(F):5'- GAAAAGCCGAGAGCCTGCTC -3'
(R):5'- AGCTGACTTCCGGGTGC -3'
|
Posted On |
2016-07-06 |