Incidental Mutation 'R4307:Gpm6a'
| ID |
324062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpm6a
|
| Ensembl Gene |
ENSMUSG00000031517 |
| Gene Name |
glycoprotein m6a |
| Synonyms |
M6A, Gpm6 |
| MMRRC Submission |
041658-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
R4307 (G1)
|
| Quality Score |
216 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
55407878-55513906 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 55500428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033915]
|
| AlphaFold |
P35802 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033915
|
| SMART Domains |
Protein: ENSMUSP00000033915
Gene: ENSMUSG00000031517
| 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: ENSMUST00000209917
|
| Meta Mutation Damage Score |
0.9479 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (33/33) |
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500009L16Rik |
A |
C |
10: 83,573,792 (GRCm39) |
K22N |
probably damaging |
Het |
| A830018L16Rik |
C |
A |
1: 12,042,300 (GRCm39) |
S440* |
probably null |
Het |
| Asap2 |
T |
C |
12: 21,279,482 (GRCm39) |
I426T |
probably damaging |
Het |
| Ccr5 |
T |
C |
9: 123,925,111 (GRCm39) |
L238P |
possibly damaging |
Het |
| Cfap157 |
G |
A |
2: 32,669,054 (GRCm39) |
R350W |
probably damaging |
Het |
| Efemp2 |
T |
A |
19: 5,531,649 (GRCm39) |
Y430N |
possibly damaging |
Het |
| Egf |
T |
A |
3: 129,512,744 (GRCm39) |
Y473F |
probably damaging |
Het |
| Emilin3 |
T |
C |
2: 160,750,237 (GRCm39) |
E504G |
probably damaging |
Het |
| Fcsk |
G |
A |
8: 111,618,712 (GRCm39) |
Q349* |
probably null |
Het |
| Frmd4a |
C |
T |
2: 4,337,889 (GRCm39) |
R32C |
probably benign |
Het |
| Gm20939 |
A |
T |
17: 95,184,162 (GRCm39) |
Y270F |
possibly damaging |
Het |
| Gpbp1 |
T |
C |
13: 111,585,517 (GRCm39) |
*68W |
probably null |
Het |
| Inpp5a |
T |
C |
7: 139,154,879 (GRCm39) |
S333P |
possibly damaging |
Het |
| Itgb5 |
T |
G |
16: 33,769,102 (GRCm39) |
Y481D |
possibly damaging |
Het |
| Kif27 |
C |
T |
13: 58,491,937 (GRCm39) |
V401I |
probably benign |
Het |
| Lca5l |
C |
T |
16: 95,960,756 (GRCm39) |
|
probably benign |
Het |
| Mrtfa |
G |
A |
15: 80,900,548 (GRCm39) |
L648F |
possibly damaging |
Het |
| Plxna4 |
A |
G |
6: 32,140,444 (GRCm39) |
V1648A |
probably damaging |
Het |
| Polk |
C |
T |
13: 96,633,174 (GRCm39) |
E290K |
possibly damaging |
Het |
| Prr27 |
A |
G |
5: 87,990,766 (GRCm39) |
H126R |
probably benign |
Het |
| Scn7a |
A |
T |
2: 66,506,099 (GRCm39) |
S1597T |
possibly damaging |
Het |
| Slc5a11 |
T |
A |
7: 122,869,093 (GRCm39) |
H560Q |
probably benign |
Het |
| Top3b |
T |
C |
16: 16,707,481 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,600,649 (GRCm39) |
N1365S |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,810,423 (GRCm39) |
V403E |
probably damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,233,872 (GRCm39) |
L780P |
probably damaging |
Het |
| Vmn2r28 |
A |
T |
7: 5,493,707 (GRCm39) |
F80I |
probably damaging |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCATTGGAATAAATCACCTTGG -3'
(R):5'- ACACATTGCCTTCTGTACAAAC -3'
Sequencing Primer
(F):5'- TGGAATAAATCACCTTGGTTTTGG -3'
(R):5'- AGTTGCAGTGCATATGATTTGAC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation