Incidental Mutation 'IGL01294:Gm4353'
ID |
73030 |
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 # |
IGL01294
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
115682602-115683793 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 115683077 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 168
(D168V)
|
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: D168V
PolyPhen 2
Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000107385 Gene: ENSMUSG00000091900 AA Change: D168V
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
A |
T |
7: 127,836,291 (GRCm39) |
S101T |
probably benign |
Het |
Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
Arglu1 |
G |
T |
8: 8,733,739 (GRCm39) |
|
probably benign |
Het |
Cacna2d2 |
T |
G |
9: 107,391,280 (GRCm39) |
Y436D |
probably damaging |
Het |
Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
Cpne8 |
G |
A |
15: 90,385,648 (GRCm39) |
S460L |
probably damaging |
Het |
Crat |
G |
A |
2: 30,295,199 (GRCm39) |
A436V |
probably damaging |
Het |
Dmd |
T |
C |
X: 83,475,604 (GRCm39) |
|
probably null |
Het |
Emilin2 |
G |
T |
17: 71,581,589 (GRCm39) |
A379E |
probably benign |
Het |
Ercc2 |
A |
G |
7: 19,124,342 (GRCm39) |
I445V |
probably benign |
Het |
Evc2 |
T |
C |
5: 37,504,854 (GRCm39) |
|
probably null |
Het |
Filip1l |
A |
T |
16: 57,392,711 (GRCm39) |
K1100* |
probably null |
Het |
Hsf4 |
G |
T |
8: 106,002,289 (GRCm39) |
*417L |
probably null |
Het |
Kmt2a |
A |
G |
9: 44,731,594 (GRCm39) |
|
probably benign |
Het |
Macroh2a1 |
A |
T |
13: 56,222,113 (GRCm39) |
V346E |
probably damaging |
Het |
Mpzl1 |
A |
G |
1: 165,421,177 (GRCm39) |
S261P |
probably damaging |
Het |
Mre11a |
T |
C |
9: 14,742,211 (GRCm39) |
S621P |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,232,926 (GRCm39) |
Y934C |
probably damaging |
Het |
Naip5 |
A |
G |
13: 100,353,588 (GRCm39) |
S1224P |
probably damaging |
Het |
Nwd1 |
A |
T |
8: 73,438,373 (GRCm39) |
N1474Y |
probably damaging |
Het |
Or2ag20 |
T |
C |
7: 106,464,970 (GRCm39) |
L261S |
probably damaging |
Het |
Ptbp2 |
A |
G |
3: 119,541,461 (GRCm39) |
V192A |
probably damaging |
Het |
Rfx2 |
T |
C |
17: 57,090,657 (GRCm39) |
Y421C |
probably damaging |
Het |
Sfmbt2 |
T |
A |
2: 10,595,232 (GRCm39) |
|
probably benign |
Het |
Slc4a10 |
A |
C |
2: 62,083,653 (GRCm39) |
|
probably null |
Het |
Slitrk6 |
T |
C |
14: 110,987,506 (GRCm39) |
M734V |
probably benign |
Het |
Tap1 |
T |
C |
17: 34,413,019 (GRCm39) |
|
probably null |
Het |
Tep1 |
A |
G |
14: 51,067,114 (GRCm39) |
|
probably benign |
Het |
Uba6 |
T |
A |
5: 86,297,907 (GRCm39) |
I256L |
possibly damaging |
Het |
Wnt3 |
A |
T |
11: 103,699,140 (GRCm39) |
H82L |
possibly 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 |
IGL01478:Gm4353
|
APN |
7 |
115,682,975 (GRCm39) |
missense |
possibly damaging |
0.82 |
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 |
2013-10-07 |