Incidental Mutation 'IGL01896:9330159F19Rik'
ID |
179410 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
9330159F19Rik
|
Ensembl Gene |
ENSMUSG00000004360 |
Gene Name |
RIKEN cDNA 9330159F19 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
IGL01896
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
29087602-29106775 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 29101154 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 509
(F509Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151062
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092627]
[ENSMUST00000213489]
[ENSMUST00000213490]
[ENSMUST00000217011]
|
AlphaFold |
D3Z623 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092627
AA Change: F509Y
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000090291 Gene: ENSMUSG00000004360 AA Change: F509Y
Domain | Start | End | E-Value | Type |
Pfam:DUF4482
|
15 |
152 |
3e-43 |
PFAM |
low complexity region
|
270 |
286 |
N/A |
INTRINSIC |
low complexity region
|
616 |
635 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213489
AA Change: F509Y
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213490
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217011
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot11 |
T |
A |
4: 106,628,564 (GRCm39) |
I75F |
probably damaging |
Het |
Atp1a2 |
T |
A |
1: 172,113,578 (GRCm39) |
N427Y |
probably damaging |
Het |
Cd19 |
T |
C |
7: 126,013,522 (GRCm39) |
D89G |
possibly damaging |
Het |
Clca3a1 |
T |
A |
3: 144,721,438 (GRCm39) |
T378S |
possibly damaging |
Het |
Cltc |
A |
T |
11: 86,615,959 (GRCm39) |
C436S |
probably damaging |
Het |
Def8 |
G |
A |
8: 124,186,634 (GRCm39) |
V429M |
probably benign |
Het |
Dnah9 |
A |
T |
11: 66,021,492 (GRCm39) |
D311E |
possibly damaging |
Het |
Dpy19l4 |
T |
C |
4: 11,267,752 (GRCm39) |
K396R |
possibly damaging |
Het |
Eif4b |
T |
C |
15: 102,003,721 (GRCm39) |
S597P |
probably benign |
Het |
Ezh1 |
A |
T |
11: 101,104,581 (GRCm39) |
N155K |
probably benign |
Het |
Glud1 |
A |
G |
14: 34,041,862 (GRCm39) |
S157G |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Gm5600 |
T |
C |
7: 113,307,221 (GRCm39) |
|
noncoding transcript |
Het |
Hnf4g |
T |
A |
3: 3,716,470 (GRCm39) |
V298E |
probably damaging |
Het |
Hspd1 |
C |
T |
1: 55,118,268 (GRCm39) |
R446Q |
probably benign |
Het |
Lyst |
A |
G |
13: 13,810,162 (GRCm39) |
I611V |
probably benign |
Het |
Map4k3 |
T |
C |
17: 80,921,360 (GRCm39) |
E524G |
probably benign |
Het |
Mepe |
A |
G |
5: 104,486,135 (GRCm39) |
D425G |
possibly damaging |
Het |
Myo1a |
G |
T |
10: 127,555,773 (GRCm39) |
V921L |
probably benign |
Het |
Plxdc1 |
A |
T |
11: 97,815,408 (GRCm39) |
M470K |
probably damaging |
Het |
Prim1 |
A |
G |
10: 127,858,758 (GRCm39) |
Y222C |
probably damaging |
Het |
Ptpn13 |
A |
G |
5: 103,649,389 (GRCm39) |
N264S |
possibly damaging |
Het |
Qrsl1 |
T |
C |
10: 43,752,500 (GRCm39) |
D441G |
probably benign |
Het |
Samd9l |
G |
T |
6: 3,375,120 (GRCm39) |
Q714K |
probably benign |
Het |
Scrib |
T |
C |
15: 75,937,967 (GRCm39) |
E293G |
possibly damaging |
Het |
Slc12a2 |
T |
A |
18: 58,029,380 (GRCm39) |
N255K |
probably benign |
Het |
Slc6a6 |
T |
C |
6: 91,703,050 (GRCm39) |
I141T |
probably damaging |
Het |
Slc9a1 |
T |
C |
4: 133,145,370 (GRCm39) |
L485P |
probably damaging |
Het |
Slfn8 |
A |
T |
11: 82,894,522 (GRCm39) |
Y706N |
probably damaging |
Het |
Tlr5 |
T |
C |
1: 182,802,444 (GRCm39) |
F583L |
possibly damaging |
Het |
Tmprss15 |
A |
G |
16: 78,887,678 (GRCm39) |
V43A |
probably benign |
Het |
Ttc24 |
T |
C |
3: 87,977,720 (GRCm39) |
|
probably null |
Het |
Ttc7 |
A |
G |
17: 87,666,552 (GRCm39) |
T606A |
probably damaging |
Het |
Ubap2 |
G |
T |
4: 41,202,362 (GRCm39) |
P689T |
possibly damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Wfdc8 |
A |
T |
2: 164,447,700 (GRCm39) |
M120K |
probably damaging |
Het |
|
Other mutations in 9330159F19Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00958:9330159F19Rik
|
APN |
10 |
29,103,324 (GRCm39) |
missense |
probably benign |
0.13 |
IGL01766:9330159F19Rik
|
APN |
10 |
29,100,557 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01988:9330159F19Rik
|
APN |
10 |
29,101,107 (GRCm39) |
missense |
probably benign |
0.08 |
IGL03007:9330159F19Rik
|
APN |
10 |
29,098,034 (GRCm39) |
missense |
possibly damaging |
0.66 |
PIT1430001:9330159F19Rik
|
UTSW |
10 |
29,100,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R0256:9330159F19Rik
|
UTSW |
10 |
29,098,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R0490:9330159F19Rik
|
UTSW |
10 |
29,103,338 (GRCm39) |
missense |
probably damaging |
0.99 |
R1755:9330159F19Rik
|
UTSW |
10 |
29,098,290 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1759:9330159F19Rik
|
UTSW |
10 |
29,094,272 (GRCm39) |
missense |
possibly damaging |
0.51 |
R1836:9330159F19Rik
|
UTSW |
10 |
29,097,795 (GRCm39) |
missense |
probably damaging |
0.98 |
R2373:9330159F19Rik
|
UTSW |
10 |
29,101,039 (GRCm39) |
missense |
probably benign |
0.00 |
R2511:9330159F19Rik
|
UTSW |
10 |
29,097,902 (GRCm39) |
missense |
probably damaging |
0.96 |
R3113:9330159F19Rik
|
UTSW |
10 |
29,100,372 (GRCm39) |
nonsense |
probably null |
|
R3755:9330159F19Rik
|
UTSW |
10 |
29,098,110 (GRCm39) |
missense |
probably damaging |
0.98 |
R3954:9330159F19Rik
|
UTSW |
10 |
29,100,805 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3956:9330159F19Rik
|
UTSW |
10 |
29,100,805 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3957:9330159F19Rik
|
UTSW |
10 |
29,100,805 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4321:9330159F19Rik
|
UTSW |
10 |
29,100,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R4510:9330159F19Rik
|
UTSW |
10 |
29,100,819 (GRCm39) |
missense |
probably benign |
|
R4511:9330159F19Rik
|
UTSW |
10 |
29,100,819 (GRCm39) |
missense |
probably benign |
|
R4717:9330159F19Rik
|
UTSW |
10 |
29,097,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R5336:9330159F19Rik
|
UTSW |
10 |
29,100,495 (GRCm39) |
missense |
probably damaging |
0.98 |
R5401:9330159F19Rik
|
UTSW |
10 |
29,101,136 (GRCm39) |
missense |
probably benign |
0.03 |
R5585:9330159F19Rik
|
UTSW |
10 |
29,101,271 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5635:9330159F19Rik
|
UTSW |
10 |
29,094,273 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5647:9330159F19Rik
|
UTSW |
10 |
29,101,250 (GRCm39) |
missense |
probably damaging |
0.99 |
R6831:9330159F19Rik
|
UTSW |
10 |
29,100,675 (GRCm39) |
missense |
probably benign |
0.44 |
R7085:9330159F19Rik
|
UTSW |
10 |
29,100,476 (GRCm39) |
missense |
probably damaging |
0.96 |
R7779:9330159F19Rik
|
UTSW |
10 |
29,101,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R7813:9330159F19Rik
|
UTSW |
10 |
29,100,896 (GRCm39) |
missense |
probably benign |
0.41 |
R8209:9330159F19Rik
|
UTSW |
10 |
29,094,195 (GRCm39) |
missense |
probably damaging |
0.99 |
R8224:9330159F19Rik
|
UTSW |
10 |
29,094,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R8226:9330159F19Rik
|
UTSW |
10 |
29,094,195 (GRCm39) |
missense |
probably damaging |
0.99 |
R8492:9330159F19Rik
|
UTSW |
10 |
29,094,243 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8832:9330159F19Rik
|
UTSW |
10 |
29,100,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R9369:9330159F19Rik
|
UTSW |
10 |
29,100,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R9665:9330159F19Rik
|
UTSW |
10 |
29,103,344 (GRCm39) |
missense |
probably benign |
0.03 |
R9722:9330159F19Rik
|
UTSW |
10 |
29,094,269 (GRCm39) |
missense |
probably benign |
0.39 |
R9796:9330159F19Rik
|
UTSW |
10 |
29,101,349 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Posted On |
2014-05-07 |