Incidental Mutation 'IGL02571:Gem'
| ID |
299009 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gem
|
| Ensembl Gene |
ENSMUSG00000028214 |
| Gene Name |
GTP binding protein overexpressed in skeletal muscle |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.214)
|
| Stock # |
IGL02571
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
11704457-11714752 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 11713628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 255
(Q255K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103939
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029868]
[ENSMUST00000108304]
|
| AlphaFold |
P55041 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029868
AA Change: Q255K
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000029868
Gene: ENSMUSG00000028214
AA Change: Q255K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
70 |
N/A |
INTRINSIC |
|
Pfam:Miro
|
76 |
193 |
4.9e-21 |
PFAM |
|
Pfam:Ras
|
76 |
240 |
1.9e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108304
AA Change: Q255K
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103939
Gene: ENSMUSG00000028214
AA Change: Q255K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
70 |
N/A |
INTRINSIC |
|
Pfam:Roc
|
76 |
194 |
2.6e-11 |
PFAM |
|
Pfam:Ras
|
76 |
240 |
1.3e-32 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the RAD/GEM family of GTP-binding proteins. It is associated with the inner face of the plasma membrane and could play a role as a regulatory protein in receptor-mediated signal transduction. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired glucose tolerance, decreased insulin secretion and abnormal calcium handling in pancreatic beta-cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8a2 |
T |
C |
14: 60,249,907 (GRCm39) |
|
probably benign |
Het |
| Cacna2d2 |
G |
A |
9: 107,402,845 (GRCm39) |
E885K |
possibly damaging |
Het |
| Cyp4f17 |
A |
G |
17: 32,743,878 (GRCm39) |
E352G |
probably benign |
Het |
| Dip2b |
T |
C |
15: 100,055,766 (GRCm39) |
W373R |
possibly damaging |
Het |
| Garin3 |
G |
T |
11: 46,296,072 (GRCm39) |
R148L |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,341,887 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,803,134 (GRCm39) |
N2161I |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,415,235 (GRCm39) |
F1325L |
probably damaging |
Het |
| Irgc |
T |
C |
7: 24,132,016 (GRCm39) |
K267R |
probably damaging |
Het |
| Kif1a |
A |
G |
1: 92,948,178 (GRCm39) |
|
probably null |
Het |
| Lifr |
G |
T |
15: 7,219,592 (GRCm39) |
|
probably benign |
Het |
| Mrpl12 |
A |
G |
11: 120,376,258 (GRCm39) |
|
probably null |
Het |
| Mrps18c |
A |
G |
5: 100,949,841 (GRCm39) |
D74G |
probably damaging |
Het |
| Mtus1 |
C |
T |
8: 41,536,519 (GRCm39) |
G399D |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,319,453 (GRCm39) |
I536T |
probably damaging |
Het |
| Or5a3 |
C |
A |
19: 12,400,250 (GRCm39) |
S192R |
possibly damaging |
Het |
| Pcdh9 |
A |
G |
14: 93,798,023 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Rubcnl |
A |
T |
14: 75,269,576 (GRCm39) |
Q78L |
possibly damaging |
Het |
| Sis |
C |
A |
3: 72,863,637 (GRCm39) |
|
probably benign |
Het |
| Tbc1d2 |
T |
C |
4: 46,628,370 (GRCm39) |
M320V |
probably benign |
Het |
| Vmn1r178 |
C |
T |
7: 23,593,660 (GRCm39) |
T236I |
probably damaging |
Het |
| Xpc |
T |
C |
6: 91,481,053 (GRCm39) |
D273G |
probably benign |
Het |
| Zfhx4 |
A |
C |
3: 5,394,583 (GRCm39) |
N1033T |
probably damaging |
Het |
| Zfp646 |
A |
G |
7: 127,478,584 (GRCm39) |
T254A |
probably damaging |
Het |
|
| Other mutations in Gem |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01863:Gem
|
APN |
4 |
11,705,980 (GRCm39) |
missense |
probably benign |
|
|
IGL02189:Gem
|
APN |
4 |
11,706,121 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1565:Gem
|
UTSW |
4 |
11,713,709 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R3806:Gem
|
UTSW |
4 |
11,705,965 (GRCm39) |
nonsense |
probably null |
|
|
R3893:Gem
|
UTSW |
4 |
11,705,889 (GRCm39) |
intron |
probably benign |
|
|
R4353:Gem
|
UTSW |
4 |
11,705,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4724:Gem
|
UTSW |
4 |
11,706,074 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7676:Gem
|
UTSW |
4 |
11,711,170 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8779:Gem
|
UTSW |
4 |
11,711,166 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9708:Gem
|
UTSW |
4 |
11,711,154 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
| Posted On |
2015-04-16 |
Incidental Mutation