Incidental Mutation 'R4306:Gpm6a'
| ID |
324035 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpm6a
|
| Ensembl Gene |
ENSMUSG00000031517 |
| Gene Name |
glycoprotein m6a |
| Synonyms |
M6A, Gpm6 |
| MMRRC Submission |
041092-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
R4306 (G1)
|
| Quality Score |
225 |
|
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: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
97% (33/34) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
A |
1: 12,042,300 (GRCm39) |
S440* |
probably null |
Het |
| Chrdl2 |
A |
G |
7: 99,671,229 (GRCm39) |
T116A |
probably damaging |
Het |
| Chst12 |
T |
C |
5: 140,510,401 (GRCm39) |
F343L |
probably damaging |
Het |
| Cpeb2 |
T |
A |
5: 43,392,578 (GRCm39) |
|
probably benign |
Het |
| Cyp27b1 |
A |
G |
10: 126,886,957 (GRCm39) |
D391G |
probably benign |
Het |
| Dll3 |
T |
C |
7: 28,001,082 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
A |
1: 46,260,932 (GRCm39) |
I2030N |
probably damaging |
Het |
| Fap |
C |
T |
2: 62,361,051 (GRCm39) |
|
probably null |
Het |
| Frmd4a |
C |
T |
2: 4,337,889 (GRCm39) |
R32C |
probably benign |
Het |
| Fzd7 |
T |
C |
1: 59,523,566 (GRCm39) |
V483A |
probably damaging |
Het |
| Gprc6a |
T |
C |
10: 51,492,735 (GRCm39) |
H539R |
probably damaging |
Het |
| Irs1 |
C |
T |
1: 82,265,685 (GRCm39) |
A844T |
probably benign |
Het |
| Myo1a |
T |
G |
10: 127,549,950 (GRCm39) |
S477A |
probably benign |
Het |
| Naga |
C |
T |
15: 82,221,095 (GRCm39) |
W67* |
probably null |
Het |
| Or51ah3 |
A |
T |
7: 103,210,379 (GRCm39) |
R232* |
probably null |
Het |
| Or51ah3 |
G |
C |
7: 103,210,380 (GRCm39) |
R232T |
possibly damaging |
Het |
| Osbpl1a |
T |
C |
18: 12,952,652 (GRCm39) |
E87G |
probably benign |
Het |
| Prr27 |
A |
G |
5: 87,990,766 (GRCm39) |
H126R |
probably benign |
Het |
| Rb1 |
G |
A |
14: 73,500,135 (GRCm39) |
T504I |
probably damaging |
Het |
| Rnf144b |
A |
G |
13: 47,396,418 (GRCm39) |
N252D |
probably damaging |
Het |
| Slit2 |
T |
A |
5: 48,460,125 (GRCm39) |
N1385K |
possibly damaging |
Het |
| Spaca7b |
T |
A |
8: 11,728,590 (GRCm39) |
N27I |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,731,954 (GRCm39) |
I88V |
probably benign |
Het |
| Trip11 |
A |
G |
12: 101,853,198 (GRCm39) |
F465L |
probably benign |
Het |
| Usp31 |
G |
A |
7: 121,306,152 (GRCm39) |
P109S |
possibly damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,233,872 (GRCm39) |
L780P |
probably damaging |
Het |
| Vmn2r71 |
G |
T |
7: 85,273,360 (GRCm39) |
D725Y |
probably damaging |
Het |
| Zfp459 |
T |
C |
13: 67,561,307 (GRCm39) |
K47R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGTTCCCAGGATTGACATC -3'
(R):5'- AACCAATACACATTGCCTTCTG -3'
Sequencing Primer
(F):5'- CTGTTCCCAGGATTGACATCTTTAAG -3'
(R):5'- AGTTGCAGTGCATATGATTTGAC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation