Incidental Mutation 'IGL03257:Gpm6a'
ID |
414693 |
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 # |
IGL03257
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
55407878-55513906 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55490507 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 61
(Y61C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033915
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033915]
|
AlphaFold |
P35802 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033915
AA Change: Y61C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000033915 Gene: ENSMUSG00000031517 AA Change: Y61C
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
C |
A |
14: 118,852,623 (GRCm39) |
V489L |
probably benign |
Het |
Alpk2 |
C |
A |
18: 65,482,945 (GRCm39) |
E354D |
probably damaging |
Het |
Ank1 |
A |
T |
8: 23,612,914 (GRCm39) |
K1060M |
probably damaging |
Het |
Cand2 |
A |
G |
6: 115,776,944 (GRCm39) |
N1111D |
possibly damaging |
Het |
Ccny |
A |
T |
18: 9,386,747 (GRCm39) |
S73T |
possibly damaging |
Het |
Clps |
T |
C |
17: 28,779,634 (GRCm39) |
|
probably benign |
Het |
Cnga1 |
C |
A |
5: 72,768,205 (GRCm39) |
W160C |
probably damaging |
Het |
Col6a5 |
T |
C |
9: 105,759,072 (GRCm39) |
S2045G |
possibly damaging |
Het |
Dennd4a |
T |
G |
9: 64,779,156 (GRCm39) |
N546K |
possibly damaging |
Het |
Efcab5 |
A |
T |
11: 77,079,596 (GRCm39) |
M50K |
probably damaging |
Het |
Fntb |
A |
G |
12: 76,934,805 (GRCm39) |
H228R |
probably damaging |
Het |
Gm4787 |
C |
T |
12: 81,424,826 (GRCm39) |
C444Y |
probably damaging |
Het |
Grm5 |
T |
A |
7: 87,252,106 (GRCm39) |
S119T |
possibly damaging |
Het |
Igf1r |
T |
A |
7: 67,864,688 (GRCm39) |
I1162N |
probably damaging |
Het |
Irx5 |
A |
G |
8: 93,087,258 (GRCm39) |
T397A |
probably benign |
Het |
Kdm1b |
C |
T |
13: 47,202,742 (GRCm39) |
T59M |
probably damaging |
Het |
Lrrc9 |
T |
A |
12: 72,496,542 (GRCm39) |
S57T |
probably benign |
Het |
Nup210l |
A |
T |
3: 90,087,455 (GRCm39) |
|
probably null |
Het |
Or5p52 |
T |
C |
7: 107,501,963 (GRCm39) |
I13T |
probably benign |
Het |
Or8k27 |
A |
T |
2: 86,276,234 (GRCm39) |
F31I |
probably damaging |
Het |
Prl8a1 |
A |
G |
13: 27,759,656 (GRCm39) |
I127T |
probably damaging |
Het |
Psme1 |
T |
C |
14: 55,818,086 (GRCm39) |
I142T |
probably damaging |
Het |
Ptbp3 |
A |
T |
4: 59,493,370 (GRCm39) |
|
probably benign |
Het |
Rnf20 |
T |
A |
4: 49,645,687 (GRCm39) |
N321K |
probably benign |
Het |
Ttc23 |
T |
C |
7: 67,361,126 (GRCm39) |
S340P |
probably damaging |
Het |
Txnrd1 |
A |
T |
10: 82,721,105 (GRCm39) |
K393I |
probably benign |
Het |
Zfp365 |
A |
T |
10: 67,724,868 (GRCm39) |
F340Y |
possibly damaging |
Het |
Zfp451 |
C |
A |
1: 33,816,129 (GRCm39) |
R607L |
possibly damaging |
Het |
Zfp618 |
A |
G |
4: 63,050,908 (GRCm39) |
Y563C |
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 |
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 |
2016-08-02 |