Incidental Mutation 'R0052:Ginm1'
ID |
15301 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ginm1
|
Ensembl Gene |
ENSMUSG00000040006 |
Gene Name |
glycoprotein integral membrane 1 |
Synonyms |
BC013529 |
MMRRC Submission |
038346-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0052 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
7643711-7656681 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 7655070 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 57
(E57D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119129
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039763]
[ENSMUST00000124838]
|
AlphaFold |
Q91WR6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039763
AA Change: E57D
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000040961 Gene: ENSMUSG00000040006 AA Change: E57D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
transmembrane domain
|
260 |
282 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124447
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124838
AA Change: E57D
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000119129 Gene: ENSMUSG00000040006 AA Change: E57D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
transmembrane domain
|
261 |
283 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147230
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180853
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 85.5%
- 3x: 78.2%
- 10x: 46.7%
- 20x: 12.5%
|
Validation Efficiency |
90% (62/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apba1 |
T |
C |
19: 23,893,315 (GRCm39) |
S438P |
possibly damaging |
Het |
Atosa |
A |
G |
9: 74,926,265 (GRCm39) |
|
probably benign |
Het |
Atp2a1 |
A |
G |
7: 126,057,069 (GRCm39) |
|
probably benign |
Het |
Bicd2 |
T |
A |
13: 49,528,790 (GRCm39) |
L184Q |
probably damaging |
Het |
Bub1 |
G |
A |
2: 127,650,959 (GRCm39) |
T618I |
probably benign |
Het |
Dsp |
A |
G |
13: 38,381,340 (GRCm39) |
D2096G |
possibly damaging |
Het |
Eno4 |
A |
G |
19: 58,956,985 (GRCm39) |
D357G |
probably damaging |
Het |
Fcrl2 |
A |
T |
3: 87,164,085 (GRCm39) |
I348N |
possibly damaging |
Het |
Fgl2 |
A |
T |
5: 21,580,347 (GRCm39) |
S230C |
probably damaging |
Het |
Itga9 |
T |
A |
9: 118,465,617 (GRCm39) |
I157N |
probably damaging |
Het |
Kif21a |
T |
C |
15: 90,855,060 (GRCm39) |
E700G |
probably damaging |
Het |
Mmd |
C |
T |
11: 90,150,824 (GRCm39) |
|
probably benign |
Het |
Morn3 |
T |
C |
5: 123,184,726 (GRCm39) |
Y38C |
probably damaging |
Het |
Prex2 |
T |
A |
1: 11,230,380 (GRCm39) |
L802Q |
probably damaging |
Het |
Psd3 |
A |
G |
8: 68,335,631 (GRCm39) |
|
probably null |
Het |
Ralgds |
T |
A |
2: 28,434,400 (GRCm39) |
|
probably null |
Het |
Rmdn2 |
A |
G |
17: 79,957,760 (GRCm39) |
E16G |
probably damaging |
Het |
Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
Slc4a4 |
A |
C |
5: 89,304,195 (GRCm39) |
H502P |
possibly damaging |
Het |
Slco3a1 |
A |
T |
7: 74,154,074 (GRCm39) |
I166N |
probably benign |
Het |
Snx5 |
A |
T |
2: 144,101,112 (GRCm39) |
|
probably null |
Het |
Srgap1 |
T |
C |
10: 121,636,732 (GRCm39) |
D741G |
possibly damaging |
Het |
St8sia2 |
G |
T |
7: 73,593,038 (GRCm39) |
Y339* |
probably null |
Het |
Tdo2 |
T |
A |
3: 81,874,332 (GRCm39) |
N210I |
probably benign |
Het |
Thada |
A |
T |
17: 84,762,586 (GRCm39) |
N104K |
probably damaging |
Het |
Timm8b |
A |
T |
9: 50,516,330 (GRCm39) |
D61V |
possibly damaging |
Het |
Trbv12-1 |
T |
C |
6: 41,090,850 (GRCm39) |
F74S |
possibly damaging |
Het |
Tshz1 |
G |
A |
18: 84,033,070 (GRCm39) |
T446I |
possibly damaging |
Het |
Ubap2l |
T |
C |
3: 89,946,235 (GRCm39) |
N123S |
possibly damaging |
Het |
Usp12 |
A |
G |
5: 146,675,914 (GRCm39) |
V336A |
possibly damaging |
Het |
Xrn2 |
T |
A |
2: 146,882,885 (GRCm39) |
|
probably benign |
Het |
Zfp14 |
G |
T |
7: 29,737,753 (GRCm39) |
Q411K |
probably damaging |
Het |
|
Other mutations in Ginm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00272:Ginm1
|
APN |
10 |
7,668,460 (GRCm39) |
unclassified |
probably benign |
|
IGL02474:Ginm1
|
APN |
10 |
7,653,532 (GRCm39) |
splice site |
probably benign |
|
IGL02606:Ginm1
|
APN |
10 |
7,646,163 (GRCm39) |
missense |
probably damaging |
0.98 |
Juniper
|
UTSW |
10 |
7,655,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R0010:Ginm1
|
UTSW |
10 |
7,651,138 (GRCm39) |
splice site |
probably benign |
|
R0010:Ginm1
|
UTSW |
10 |
7,651,138 (GRCm39) |
splice site |
probably benign |
|
R0052:Ginm1
|
UTSW |
10 |
7,655,070 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1901:Ginm1
|
UTSW |
10 |
7,650,980 (GRCm39) |
critical splice donor site |
probably null |
|
R2106:Ginm1
|
UTSW |
10 |
7,651,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R5374:Ginm1
|
UTSW |
10 |
7,655,078 (GRCm39) |
missense |
probably damaging |
0.99 |
R5929:Ginm1
|
UTSW |
10 |
7,649,814 (GRCm39) |
missense |
probably benign |
0.16 |
R6062:Ginm1
|
UTSW |
10 |
7,651,097 (GRCm39) |
missense |
probably benign |
0.00 |
R6102:Ginm1
|
UTSW |
10 |
7,644,260 (GRCm39) |
missense |
probably benign |
0.00 |
R6792:Ginm1
|
UTSW |
10 |
7,649,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R7326:Ginm1
|
UTSW |
10 |
7,653,614 (GRCm39) |
nonsense |
probably null |
|
R7417:Ginm1
|
UTSW |
10 |
7,649,844 (GRCm39) |
missense |
probably damaging |
0.99 |
R7663:Ginm1
|
UTSW |
10 |
7,651,126 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7757:Ginm1
|
UTSW |
10 |
7,655,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R8237:Ginm1
|
UTSW |
10 |
7,668,419 (GRCm39) |
missense |
unknown |
|
R8437:Ginm1
|
UTSW |
10 |
7,646,130 (GRCm39) |
missense |
probably benign |
|
R9004:Ginm1
|
UTSW |
10 |
7,651,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R9239:Ginm1
|
UTSW |
10 |
7,649,825 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Posted On |
2012-12-17 |