Incidental Mutation 'IGL02591:Gpm6a'
| ID |
299744 |
| 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: 0.188)
|
| Stock # |
IGL02591
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
55407878-55513906 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 55511954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 276
(A276V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033915]
|
| AlphaFold |
P35802 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033915
AA Change: A276V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033915
Gene: ENSMUSG00000031517
AA Change: A276V
| Domain | Start | End | E-Value | Type |
|---|
|
PLP
|
157 |
212 |
1.28e-31 |
SMART |
|
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209781
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
T |
2: 19,485,249 (GRCm39) |
F448I |
probably benign |
Het |
| Afg3l1 |
T |
C |
8: 124,212,748 (GRCm39) |
F170L |
probably damaging |
Het |
| Aox1 |
A |
T |
1: 58,398,158 (GRCm39) |
R1300* |
probably null |
Het |
| Cadps |
G |
A |
14: 12,473,465 (GRCm38) |
R899C |
probably damaging |
Het |
| Ckap4 |
T |
C |
10: 84,364,454 (GRCm39) |
D203G |
probably damaging |
Het |
| Dsg1c |
A |
G |
18: 20,408,249 (GRCm39) |
N433D |
probably damaging |
Het |
| Eapp |
T |
C |
12: 54,739,607 (GRCm39) |
N70S |
probably damaging |
Het |
| Eno3 |
A |
T |
11: 70,552,853 (GRCm39) |
D378V |
probably damaging |
Het |
| Ep400 |
T |
A |
5: 110,881,638 (GRCm39) |
|
probably benign |
Het |
| F13a1 |
T |
A |
13: 37,082,031 (GRCm39) |
I558F |
probably damaging |
Het |
| Fermt1 |
A |
T |
2: 132,776,786 (GRCm39) |
M234K |
possibly damaging |
Het |
| Fgfr1op2 |
A |
G |
6: 146,490,344 (GRCm39) |
Q81R |
probably damaging |
Het |
| Hecw1 |
C |
A |
13: 14,531,821 (GRCm39) |
|
probably benign |
Het |
| Ikbip |
G |
T |
10: 90,932,154 (GRCm39) |
C266F |
probably damaging |
Het |
| Lpar2 |
C |
T |
8: 70,276,700 (GRCm39) |
A163V |
probably benign |
Het |
| Med17 |
T |
A |
9: 15,181,657 (GRCm39) |
H31L |
probably damaging |
Het |
| Or5g25 |
C |
A |
2: 85,478,487 (GRCm39) |
M59I |
probably damaging |
Het |
| Otoa |
T |
C |
7: 120,755,053 (GRCm39) |
F992L |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 75,900,287 (GRCm39) |
H864R |
probably damaging |
Het |
| Samd9l |
A |
C |
6: 3,375,760 (GRCm39) |
C500W |
possibly damaging |
Het |
| Sarm1 |
A |
T |
11: 78,378,178 (GRCm39) |
Y501N |
probably damaging |
Het |
| Selp |
A |
T |
1: 163,957,702 (GRCm39) |
H277L |
probably damaging |
Het |
| Slc39a8 |
T |
G |
3: 135,590,381 (GRCm39) |
L358R |
probably damaging |
Het |
| Spi1 |
T |
A |
2: 90,927,295 (GRCm39) |
M1K |
probably null |
Het |
| Thsd1 |
A |
G |
8: 22,748,743 (GRCm39) |
E477G |
probably damaging |
Het |
| Tlr1 |
C |
T |
5: 65,084,059 (GRCm39) |
V173M |
probably damaging |
Het |
| Tmco2 |
C |
T |
4: 120,962,987 (GRCm39) |
D171N |
probably damaging |
Het |
| Ugt2b1 |
A |
G |
5: 87,065,563 (GRCm39) |
L492P |
probably damaging |
Het |
| Vmn2r70 |
A |
T |
7: 85,214,153 (GRCm39) |
I333K |
probably damaging |
Het |
| Zfp598 |
C |
A |
17: 24,896,478 (GRCm39) |
P185Q |
probably damaging |
Het |
| Zfp711 |
T |
A |
X: 111,542,391 (GRCm39) |
M474K |
probably benign |
Het |
| Zscan18 |
T |
C |
7: 12,509,206 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gpm6a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01957:Gpm6a
|
APN |
8 |
55,503,212 (GRCm39) |
missense |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation