Incidental Mutation 'IGL01957:Gpm6a'
| ID |
181115 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpm6a
|
| Ensembl Gene |
ENSMUSG00000031517 |
| Gene Name |
glycoprotein m6a |
| Synonyms |
M6A, Gpm6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
IGL01957
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
55407878-55513906 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55503212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 154
(M154L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033915]
|
| AlphaFold |
P35802 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033915
AA Change: M154L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000033915
Gene: ENSMUSG00000031517
AA Change: M154L
| Domain | Start | End | E-Value | Type |
|---|
|
PLP
|
157 |
212 |
1.28e-31 |
SMART |
|
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in increased percentage of total body fat and total body fat mass. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030469F06Rik |
T |
C |
12: 31,235,042 (GRCm39) |
|
noncoding transcript |
Het |
| Cops3 |
A |
G |
11: 59,712,217 (GRCm39) |
|
probably benign |
Het |
| Cyth2 |
A |
T |
7: 45,457,805 (GRCm39) |
Y304N |
probably benign |
Het |
| Dhx8 |
A |
G |
11: 101,645,652 (GRCm39) |
N837S |
possibly damaging |
Het |
| Evpl |
A |
G |
11: 116,114,048 (GRCm39) |
L1214P |
probably damaging |
Het |
| Gm94 |
A |
G |
18: 43,917,746 (GRCm39) |
S40P |
probably damaging |
Het |
| Ipo13 |
A |
G |
4: 117,761,078 (GRCm39) |
S547P |
probably damaging |
Het |
| Mfsd14b |
A |
C |
13: 65,234,907 (GRCm39) |
V90G |
possibly damaging |
Het |
| Mfsd4b4 |
A |
T |
10: 39,768,025 (GRCm39) |
M356K |
probably damaging |
Het |
| Msh6 |
T |
G |
17: 88,292,519 (GRCm39) |
F425V |
possibly damaging |
Het |
| Or4k15c |
T |
C |
14: 50,321,737 (GRCm39) |
T134A |
probably benign |
Het |
| Or52m2 |
A |
T |
7: 102,263,546 (GRCm39) |
L217I |
probably damaging |
Het |
| Or6c215 |
A |
G |
10: 129,638,119 (GRCm39) |
Y92H |
probably damaging |
Het |
| Ptk2 |
T |
C |
15: 73,114,322 (GRCm39) |
I679V |
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,991,106 (GRCm39) |
|
probably benign |
Het |
| Sema3d |
T |
A |
5: 12,613,282 (GRCm39) |
V453E |
probably damaging |
Het |
| Spata31e2 |
C |
T |
1: 26,724,340 (GRCm39) |
C280Y |
probably damaging |
Het |
| Syk |
C |
A |
13: 52,785,776 (GRCm39) |
D327E |
probably benign |
Het |
| Triobp |
G |
A |
15: 78,856,847 (GRCm39) |
|
probably null |
Het |
| Tubgcp5 |
G |
A |
7: 55,468,505 (GRCm39) |
E667K |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r76 |
G |
T |
7: 85,877,925 (GRCm39) |
H491N |
probably benign |
Het |
|
| Other mutations in Gpm6a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02591:Gpm6a
|
APN |
8 |
55,511,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03257:Gpm6a
|
APN |
8 |
55,490,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F2404:Gpm6a
|
UTSW |
8 |
55,511,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0533:Gpm6a
|
UTSW |
8 |
55,508,409 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0827:Gpm6a
|
UTSW |
8 |
55,511,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1193:Gpm6a
|
UTSW |
8 |
55,500,268 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1468:Gpm6a
|
UTSW |
8 |
55,490,385 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1468:Gpm6a
|
UTSW |
8 |
55,490,385 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1793:Gpm6a
|
UTSW |
8 |
55,507,867 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1879:Gpm6a
|
UTSW |
8 |
55,490,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2157:Gpm6a
|
UTSW |
8 |
55,511,833 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4306:Gpm6a
|
UTSW |
8 |
55,500,428 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4307:Gpm6a
|
UTSW |
8 |
55,500,428 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4417:Gpm6a
|
UTSW |
8 |
55,503,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6058:Gpm6a
|
UTSW |
8 |
55,511,833 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6112:Gpm6a
|
UTSW |
8 |
55,507,845 (GRCm39) |
missense |
probably benign |
|
|
R6254:Gpm6a
|
UTSW |
8 |
55,500,431 (GRCm39) |
splice site |
probably null |
|
|
R7065:Gpm6a
|
UTSW |
8 |
55,490,493 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7076:Gpm6a
|
UTSW |
8 |
55,490,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7912:Gpm6a
|
UTSW |
8 |
55,508,469 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7955:Gpm6a
|
UTSW |
8 |
55,511,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8758:Gpm6a
|
UTSW |
8 |
55,511,833 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9687:Gpm6a
|
UTSW |
8 |
55,503,209 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2014-05-07 |
Incidental Mutation