Incidental Mutation 'IGL01478:Gm4353'
| ID |
88510 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm4353
|
| Ensembl Gene |
ENSMUSG00000091900 |
| Gene Name |
predicted gene 4353 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
IGL01478
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
115682602-115683793 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115682975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 202
(V202A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111755]
[ENSMUST00000205427]
[ENSMUST00000205450]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111755
AA Change: V202A
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107385
Gene: ENSMUSG00000091900
AA Change: V202A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nup35_RRM
|
166 |
251 |
8.2e-30 |
PFAM |
|
Pfam:Nup35_RRM_2
|
172 |
224 |
9.5e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150518
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205427
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205450
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,911,590 (GRCm39) |
T613A |
probably benign |
Het |
| Cdh16 |
G |
T |
8: 105,341,120 (GRCm39) |
|
probably benign |
Het |
| Epn2 |
A |
G |
11: 61,413,912 (GRCm39) |
S419P |
probably benign |
Het |
| Eral1 |
A |
T |
11: 77,966,558 (GRCm39) |
V234D |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,678,949 (GRCm39) |
K576E |
possibly damaging |
Het |
| Frmd4b |
T |
A |
6: 97,305,254 (GRCm39) |
D170V |
probably damaging |
Het |
| Ighmbp2 |
A |
G |
19: 3,324,531 (GRCm39) |
I245T |
probably benign |
Het |
| Igsf23 |
G |
A |
7: 19,672,161 (GRCm39) |
|
probably benign |
Het |
| Krt1 |
A |
G |
15: 101,754,721 (GRCm39) |
|
probably benign |
Het |
| Mapk8 |
A |
G |
14: 33,105,857 (GRCm39) |
V371A |
probably benign |
Het |
| Mtrf1 |
T |
G |
14: 79,640,360 (GRCm39) |
|
probably benign |
Het |
| Myzap |
A |
G |
9: 71,422,349 (GRCm39) |
|
probably null |
Het |
| Nsrp1 |
C |
T |
11: 76,941,478 (GRCm39) |
V73I |
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or52e18 |
A |
G |
7: 104,609,555 (GRCm39) |
I128T |
probably damaging |
Het |
| Or8k39 |
A |
T |
2: 86,563,673 (GRCm39) |
Y94* |
probably null |
Het |
| Pex6 |
C |
T |
17: 47,036,230 (GRCm39) |
R976C |
probably benign |
Het |
| Ranbp9 |
G |
A |
13: 43,567,560 (GRCm39) |
T546I |
probably benign |
Het |
| Rfx5 |
T |
C |
3: 94,865,751 (GRCm39) |
V350A |
possibly damaging |
Het |
| Rnf19b |
A |
G |
4: 128,952,623 (GRCm39) |
E187G |
probably damaging |
Het |
| Sbf1 |
A |
G |
15: 89,183,946 (GRCm39) |
V1217A |
probably damaging |
Het |
| Sfmbt1 |
T |
A |
14: 30,533,478 (GRCm39) |
D618E |
probably damaging |
Het |
| Sipa1l1 |
A |
G |
12: 82,493,672 (GRCm39) |
E1697G |
probably benign |
Het |
| Syk |
A |
G |
13: 52,778,784 (GRCm39) |
Y290C |
probably benign |
Het |
| Trim69 |
T |
C |
2: 122,008,924 (GRCm39) |
L328P |
probably damaging |
Het |
| Unc5c |
T |
A |
3: 141,534,212 (GRCm39) |
I911N |
probably damaging |
Het |
| Wdr5 |
T |
C |
2: 27,423,844 (GRCm39) |
V294A |
probably damaging |
Het |
|
| Other mutations in Gm4353 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Gm4353
|
APN |
7 |
115,682,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01294:Gm4353
|
APN |
7 |
115,683,077 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02444:Gm4353
|
APN |
7 |
115,682,679 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02537:Gm4353
|
APN |
7 |
115,682,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0501:Gm4353
|
UTSW |
7 |
115,682,706 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1853:Gm4353
|
UTSW |
7 |
115,682,804 (GRCm39) |
missense |
probably benign |
|
|
R2061:Gm4353
|
UTSW |
7 |
115,682,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4540:Gm4353
|
UTSW |
7 |
115,683,212 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4597:Gm4353
|
UTSW |
7 |
115,682,847 (GRCm39) |
nonsense |
probably null |
|
|
R4873:Gm4353
|
UTSW |
7 |
115,683,648 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4875:Gm4353
|
UTSW |
7 |
115,683,648 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5668:Gm4353
|
UTSW |
7 |
115,682,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5820:Gm4353
|
UTSW |
7 |
115,683,693 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6061:Gm4353
|
UTSW |
7 |
115,683,504 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6237:Gm4353
|
UTSW |
7 |
115,683,134 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7177:Gm4353
|
UTSW |
7 |
115,683,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7354:Gm4353
|
UTSW |
7 |
115,683,146 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7777:Gm4353
|
UTSW |
7 |
115,682,998 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7971:Gm4353
|
UTSW |
7 |
115,682,747 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8236:Gm4353
|
UTSW |
7 |
115,682,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8419:Gm4353
|
UTSW |
7 |
115,682,784 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8436:Gm4353
|
UTSW |
7 |
115,682,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9109:Gm4353
|
UTSW |
7 |
115,682,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9226:Gm4353
|
UTSW |
7 |
115,683,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9298:Gm4353
|
UTSW |
7 |
115,682,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9328:Gm4353
|
UTSW |
7 |
115,682,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9433:Gm4353
|
UTSW |
7 |
115,682,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-11-18 |
Incidental Mutation