Incidental Mutation 'IGL01988:9330159F19Rik'
ID |
182005 |
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 # |
IGL01988
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
29087602-29106775 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 29101107 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 493
(S493R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151062
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092627]
[ENSMUST00000213489]
[ENSMUST00000213490]
[ENSMUST00000217011]
|
AlphaFold |
D3Z623 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000092627
AA Change: S493R
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000090291 Gene: ENSMUSG00000004360 AA Change: S493R
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 |
probably benign
Transcript: ENSMUST00000213489
AA Change: S493R
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
C |
17: 24,553,229 (GRCm39) |
N161D |
probably damaging |
Het |
Ace2 |
C |
A |
X: 162,946,988 (GRCm39) |
N290K |
possibly damaging |
Het |
Adam26a |
G |
A |
8: 44,022,207 (GRCm39) |
P428S |
possibly damaging |
Het |
Adgrv1 |
T |
C |
13: 81,705,428 (GRCm39) |
R1461G |
probably damaging |
Het |
Arhgef10l |
T |
C |
4: 140,305,672 (GRCm39) |
|
probably benign |
Het |
Bicc1 |
A |
G |
10: 70,792,006 (GRCm39) |
V334A |
probably damaging |
Het |
C8a |
T |
C |
4: 104,683,891 (GRCm39) |
Y408C |
probably damaging |
Het |
Col24a1 |
T |
C |
3: 145,229,922 (GRCm39) |
|
probably null |
Het |
Copa |
T |
A |
1: 171,945,831 (GRCm39) |
N931K |
probably benign |
Het |
Cr1l |
A |
G |
1: 194,799,858 (GRCm39) |
M272T |
probably damaging |
Het |
Dcaf12 |
T |
C |
4: 41,298,299 (GRCm39) |
N283S |
probably benign |
Het |
Dnttip2 |
T |
A |
3: 122,069,944 (GRCm39) |
S386R |
probably benign |
Het |
Fbll1 |
G |
T |
11: 35,688,728 (GRCm39) |
D178E |
probably benign |
Het |
Fgd6 |
A |
G |
10: 93,910,197 (GRCm39) |
|
probably benign |
Het |
Fyn |
T |
A |
10: 39,409,917 (GRCm39) |
L408* |
probably null |
Het |
Gkn2 |
T |
C |
6: 87,356,257 (GRCm39) |
V176A |
probably benign |
Het |
Gm10764 |
G |
A |
10: 87,126,953 (GRCm39) |
C120Y |
unknown |
Het |
Gpr19 |
A |
T |
6: 134,846,247 (GRCm39) |
F442I |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,395,357 (GRCm39) |
|
probably benign |
Het |
Il7 |
A |
G |
3: 7,669,126 (GRCm39) |
Y37H |
possibly damaging |
Het |
Kcnj3 |
G |
A |
2: 55,327,243 (GRCm39) |
D11N |
probably benign |
Het |
Kif1c |
A |
G |
11: 70,595,762 (GRCm39) |
D156G |
probably damaging |
Het |
Lrch1 |
T |
C |
14: 75,032,813 (GRCm39) |
|
probably benign |
Het |
Nedd1 |
G |
T |
10: 92,550,021 (GRCm39) |
T88K |
probably benign |
Het |
Nlrc3 |
T |
G |
16: 3,771,803 (GRCm39) |
S875R |
probably benign |
Het |
Optc |
A |
G |
1: 133,834,667 (GRCm39) |
|
probably null |
Het |
Or4a78 |
T |
A |
2: 89,497,424 (GRCm39) |
I269F |
probably benign |
Het |
Pcdh17 |
T |
A |
14: 84,684,062 (GRCm39) |
D176E |
probably damaging |
Het |
Pde1b |
A |
G |
15: 103,433,283 (GRCm39) |
|
probably null |
Het |
Phf11a |
A |
T |
14: 59,514,807 (GRCm39) |
D291E |
probably damaging |
Het |
Slc30a8 |
A |
T |
15: 52,198,601 (GRCm39) |
I349L |
probably benign |
Het |
Spty2d1 |
T |
A |
7: 46,647,358 (GRCm39) |
S524C |
probably damaging |
Het |
Syndig1 |
T |
C |
2: 149,845,090 (GRCm39) |
|
probably benign |
Het |
Syvn1 |
G |
A |
19: 6,102,437 (GRCm39) |
A502T |
probably benign |
Het |
Tenm2 |
A |
G |
11: 35,918,078 (GRCm39) |
L1894P |
probably damaging |
Het |
Tmem176a |
T |
A |
6: 48,819,554 (GRCm39) |
V11E |
possibly damaging |
Het |
Tpr |
G |
T |
1: 150,302,750 (GRCm39) |
|
probably null |
Het |
Txnrd2 |
T |
C |
16: 18,274,768 (GRCm39) |
|
probably benign |
Het |
Ubqln3 |
G |
A |
7: 103,792,089 (GRCm39) |
|
probably benign |
Het |
Vmn1r6 |
C |
T |
6: 56,979,650 (GRCm39) |
T82I |
probably damaging |
Het |
Wdfy4 |
C |
T |
14: 32,798,437 (GRCm39) |
E1990K |
possibly damaging |
Het |
Zdhhc7 |
T |
C |
8: 120,809,329 (GRCm39) |
R293G |
probably benign |
Het |
Zeb1 |
T |
A |
18: 5,759,037 (GRCm39) |
L148* |
probably null |
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 |
IGL01896:9330159F19Rik
|
APN |
10 |
29,101,154 (GRCm39) |
missense |
possibly damaging |
0.84 |
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 |