Incidental Mutation 'R2041:Anks1'
ID |
224991 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Anks1
|
Ensembl Gene |
ENSMUSG00000024219 |
Gene Name |
ankyrin repeat and SAM domain containing 1 |
Synonyms |
Odin |
MMRRC Submission |
040048-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2041 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
28128280-28281749 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 28227388 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 659
(F659L)
|
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: F680L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000025058 Gene: ENSMUSG00000024219 AA Change: F680L
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: F659L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000085344 Gene: ENSMUSG00000024219 AA Change: F659L
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: F680L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000110491 Gene: ENSMUSG00000024219 AA Change: F680L
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156965
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
100% (61/61) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
T |
A |
5: 144,982,211 (GRCm39) |
D265E |
probably damaging |
Het |
2610021A01Rik |
A |
G |
7: 41,275,403 (GRCm39) |
R369G |
possibly damaging |
Het |
Actr3b |
T |
C |
5: 25,965,128 (GRCm39) |
|
probably null |
Het |
Adamts12 |
A |
T |
15: 11,215,821 (GRCm39) |
M281L |
probably damaging |
Het |
Aipl1 |
T |
A |
11: 71,922,332 (GRCm39) |
M126L |
possibly damaging |
Het |
Akap12 |
C |
T |
10: 4,306,489 (GRCm39) |
P1100S |
probably benign |
Het |
Alox8 |
T |
A |
11: 69,088,517 (GRCm39) |
H40L |
possibly damaging |
Het |
Asxl3 |
G |
T |
18: 22,656,508 (GRCm39) |
R1506L |
probably benign |
Het |
Bicd2 |
A |
G |
13: 49,495,252 (GRCm39) |
T36A |
probably benign |
Het |
Ccar1 |
A |
T |
10: 62,601,827 (GRCm39) |
L448Q |
probably damaging |
Het |
Ccdc17 |
T |
G |
4: 116,456,789 (GRCm39) |
N497K |
probably damaging |
Het |
Chek2 |
T |
C |
5: 110,996,530 (GRCm39) |
I164T |
probably damaging |
Het |
Cntnap5c |
T |
C |
17: 58,411,765 (GRCm39) |
|
probably null |
Het |
Cntnap5c |
T |
A |
17: 58,505,984 (GRCm39) |
D669E |
probably benign |
Het |
Cpsf6 |
A |
G |
10: 117,195,033 (GRCm39) |
I482T |
probably damaging |
Het |
Csf3 |
C |
T |
11: 98,592,483 (GRCm39) |
S65L |
possibly damaging |
Het |
Dlc1 |
A |
G |
8: 37,049,922 (GRCm39) |
Y1049H |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,050,422 (GRCm39) |
D3048G |
probably damaging |
Het |
Eif4g3 |
T |
A |
4: 137,832,617 (GRCm39) |
|
probably benign |
Het |
Epb41l4b |
T |
C |
4: 57,084,070 (GRCm39) |
K195R |
probably damaging |
Het |
Epn1 |
T |
C |
7: 5,086,874 (GRCm39) |
S41P |
probably damaging |
Het |
Fam120a |
C |
A |
13: 49,051,243 (GRCm39) |
V721L |
probably benign |
Het |
Fchsd1 |
T |
A |
18: 38,100,729 (GRCm39) |
|
probably null |
Het |
Fer1l6 |
G |
A |
15: 58,430,155 (GRCm39) |
G194D |
probably damaging |
Het |
Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
Fyb1 |
A |
C |
15: 6,674,268 (GRCm39) |
T635P |
possibly damaging |
Het |
Gpr153 |
A |
G |
4: 152,367,810 (GRCm39) |
S554G |
probably benign |
Het |
Grm1 |
A |
G |
10: 10,622,347 (GRCm39) |
F459L |
probably damaging |
Het |
H60c |
C |
T |
10: 3,209,972 (GRCm39) |
G105D |
probably damaging |
Het |
Ifnlr1 |
T |
A |
4: 135,433,148 (GRCm39) |
M528K |
possibly damaging |
Het |
Lama4 |
A |
T |
10: 38,945,987 (GRCm39) |
D790V |
probably damaging |
Het |
Mfsd13b |
T |
C |
7: 120,591,139 (GRCm39) |
|
probably benign |
Het |
Mis12 |
T |
A |
11: 70,916,132 (GRCm39) |
I55N |
probably damaging |
Het |
Morn1 |
T |
C |
4: 155,175,399 (GRCm39) |
Y103H |
probably damaging |
Het |
Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
Ndst3 |
C |
A |
3: 123,465,864 (GRCm39) |
G36V |
probably benign |
Het |
Nlrp4a |
T |
A |
7: 26,149,611 (GRCm39) |
M406K |
probably damaging |
Het |
Or4p18 |
T |
C |
2: 88,232,568 (GRCm39) |
T237A |
probably damaging |
Het |
Or51t4 |
T |
A |
7: 102,598,170 (GRCm39) |
V156E |
probably damaging |
Het |
Or5b106 |
A |
T |
19: 13,124,041 (GRCm39) |
|
probably benign |
Het |
Or7g32 |
A |
T |
9: 19,408,131 (GRCm39) |
D29V |
probably benign |
Het |
Or9m1 |
T |
C |
2: 87,733,141 (GRCm39) |
N293S |
probably damaging |
Het |
Pars2 |
A |
G |
4: 106,510,814 (GRCm39) |
T199A |
probably damaging |
Het |
Plcb4 |
C |
T |
2: 135,780,191 (GRCm39) |
T172I |
probably damaging |
Het |
Pomgnt2 |
A |
T |
9: 121,811,354 (GRCm39) |
W476R |
probably benign |
Het |
Psg23 |
T |
A |
7: 18,348,703 (GRCm39) |
S35C |
possibly damaging |
Het |
Pycr3 |
T |
A |
15: 75,791,144 (GRCm39) |
|
probably null |
Het |
Rab3gap1 |
T |
C |
1: 127,865,727 (GRCm39) |
V764A |
possibly damaging |
Het |
Rgs2 |
A |
G |
1: 143,877,960 (GRCm39) |
F80S |
probably damaging |
Het |
Sall1 |
A |
G |
8: 89,759,429 (GRCm39) |
L225P |
probably benign |
Het |
Setd3 |
A |
G |
12: 108,079,651 (GRCm39) |
I284T |
possibly damaging |
Het |
Slc4a9 |
C |
T |
18: 36,663,846 (GRCm39) |
T290I |
possibly damaging |
Het |
Tmem87b |
T |
C |
2: 128,673,509 (GRCm39) |
V251A |
probably damaging |
Het |
Ube3b |
T |
C |
5: 114,525,294 (GRCm39) |
L39P |
probably damaging |
Het |
Ubr2 |
C |
A |
17: 47,296,973 (GRCm39) |
R269L |
probably damaging |
Het |
Vrk2 |
A |
T |
11: 26,497,914 (GRCm39) |
I90K |
probably benign |
Het |
Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
Zfp984 |
A |
T |
4: 147,839,796 (GRCm39) |
C352S |
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 |
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 |
R5175:Anks1
|
UTSW |
17 |
28,261,562 (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'- TGGCCAGCAGAACATACCTC -3'
(R):5'- ACATGTCATTTCTAGGAACCATCC -3'
Sequencing Primer
(F):5'- GCAGAACATACCTCGATGCATTG -3'
(R):5'- TCGGCTTAACTCTTCGGGGAC -3'
|
Posted On |
2014-08-25 |