Incidental Mutation 'IGL00272:Ginm1'
| ID |
88884 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ginm1
|
| Ensembl Gene |
ENSMUSG00000040006 |
| Gene Name |
glycoprotein integral membrane 1 |
| Synonyms |
BC013529 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00272
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
7643711-7656681 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 7668460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015901]
[ENSMUST00000065124]
[ENSMUST00000143214]
|
| AlphaFold |
Q91WR6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015901
|
| SMART Domains |
Protein: ENSMUSP00000015901
Gene: ENSMUSG00000015757
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_isomerase
|
2 |
161 |
6.4e-40 |
PFAM |
|
low complexity region
|
205 |
218 |
N/A |
INTRINSIC |
|
RRM
|
241 |
314 |
1.49e-22 |
SMART |
|
low complexity region
|
321 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
389 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
492 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000065124
AA Change: I43V
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124447
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138151
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143214
|
| SMART Domains |
Protein: ENSMUSP00000119332
Gene: ENSMUSG00000015757
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_isomerase
|
2 |
67 |
1.8e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188270
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
A |
G |
8: 117,700,279 (GRCm39) |
V41A |
probably damaging |
Het |
| Ankrd12 |
C |
T |
17: 66,293,169 (GRCm39) |
V755I |
probably benign |
Het |
| Arrdc3 |
T |
C |
13: 81,038,691 (GRCm39) |
S218P |
probably damaging |
Het |
| Bzw1 |
T |
C |
1: 58,442,101 (GRCm39) |
V292A |
possibly damaging |
Het |
| Cers2 |
T |
C |
3: 95,229,211 (GRCm39) |
Y228H |
probably damaging |
Het |
| Dnaaf6 |
A |
G |
X: 139,006,711 (GRCm39) |
I197V |
probably benign |
Het |
| Egf |
C |
T |
3: 129,505,098 (GRCm39) |
M625I |
probably benign |
Het |
| Fbxw8 |
A |
T |
5: 118,206,162 (GRCm39) |
H595Q |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,292,699 (GRCm39) |
I660F |
probably benign |
Het |
| Gapdh |
C |
T |
6: 125,139,470 (GRCm39) |
V267M |
probably damaging |
Het |
| Gja1 |
A |
G |
10: 56,264,418 (GRCm39) |
D259G |
probably benign |
Het |
| Gm21814 |
T |
A |
6: 149,483,502 (GRCm39) |
|
noncoding transcript |
Het |
| Gm26870 |
T |
C |
9: 3,002,340 (GRCm39) |
|
probably benign |
Het |
| Habp2 |
G |
A |
19: 56,306,264 (GRCm39) |
C482Y |
probably damaging |
Het |
| Knl1 |
A |
C |
2: 118,894,564 (GRCm39) |
N79T |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,624,605 (GRCm39) |
C1450Y |
probably damaging |
Het |
| Lats2 |
T |
C |
14: 57,929,026 (GRCm39) |
T950A |
probably benign |
Het |
| Map2k2 |
T |
A |
10: 80,956,907 (GRCm39) |
M95K |
probably damaging |
Het |
| Med12l |
T |
A |
3: 58,949,757 (GRCm39) |
I160N |
probably damaging |
Het |
| Or9m1b |
A |
G |
2: 87,836,988 (GRCm39) |
S45P |
probably damaging |
Het |
| Or9m2 |
A |
T |
2: 87,820,782 (GRCm39) |
D109V |
probably damaging |
Het |
| Pes1 |
T |
C |
11: 3,926,803 (GRCm39) |
S362P |
probably damaging |
Het |
| Ppp6r2 |
G |
T |
15: 89,170,016 (GRCm39) |
A844S |
probably benign |
Het |
| Rnf130 |
A |
G |
11: 49,984,623 (GRCm39) |
I308V |
probably damaging |
Het |
| Scn11a |
T |
C |
9: 119,645,669 (GRCm39) |
N95S |
probably damaging |
Het |
| Shoc1 |
A |
G |
4: 59,086,961 (GRCm39) |
F284L |
probably benign |
Het |
| Skint2 |
A |
G |
4: 112,481,409 (GRCm39) |
T91A |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,797,494 (GRCm39) |
|
probably benign |
Het |
| Snapc1 |
A |
G |
12: 74,015,148 (GRCm39) |
|
probably null |
Het |
| Stard10 |
A |
T |
7: 100,971,173 (GRCm39) |
Y47F |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,870,095 (GRCm39) |
V233I |
probably damaging |
Het |
| Tex14 |
G |
A |
11: 87,426,469 (GRCm39) |
S1165N |
probably damaging |
Het |
| Unc5a |
A |
G |
13: 55,143,633 (GRCm39) |
I106V |
probably benign |
Het |
| Vps54 |
T |
A |
11: 21,227,909 (GRCm39) |
Y275N |
possibly damaging |
Het |
| Wdr87-ps |
G |
T |
7: 29,237,047 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Ginm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-12-03 |
Incidental Mutation