Incidental Mutation 'IGL00478:Ggh'
| ID |
6705 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ggh
|
| Ensembl Gene |
ENSMUSG00000073987 |
| Gene Name |
gamma-glutamyl hydrolase |
| Synonyms |
gamma-GH |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
IGL00478
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
20041963-20066111 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 20057965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 175
(H175Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098242]
|
| AlphaFold |
Q9Z0L8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098242
AA Change: H175Q
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000095843
Gene: ENSMUSG00000073987
AA Change: H175Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C26
|
34 |
245 |
4.9e-25 |
PFAM |
|
Pfam:GATase
|
50 |
253 |
2.2e-9 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene catalyzes the hydrolysis of folylpoly-gamma-glutamates and antifolylpoly-gamma-glutamates by the removal of gamma-linked polyglutamates and glutamate. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
G |
8: 111,774,604 (GRCm39) |
T578A |
possibly damaging |
Het |
| Ablim1 |
C |
T |
19: 57,056,618 (GRCm39) |
A359T |
probably damaging |
Het |
| Akap9 |
G |
A |
5: 4,096,639 (GRCm39) |
V2505M |
probably damaging |
Het |
| Alpk2 |
A |
T |
18: 65,440,297 (GRCm39) |
C365* |
probably null |
Het |
| C920021L13Rik |
A |
T |
3: 95,794,797 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,247,888 (GRCm39) |
V905E |
probably damaging |
Het |
| Cntrl |
T |
C |
2: 35,050,613 (GRCm39) |
V1529A |
probably damaging |
Het |
| Coro2a |
T |
C |
4: 46,540,455 (GRCm39) |
D488G |
probably benign |
Het |
| Dpf1 |
G |
T |
7: 29,015,981 (GRCm39) |
|
probably benign |
Het |
| Fga |
T |
A |
3: 82,935,951 (GRCm39) |
D59E |
probably benign |
Het |
| Glyat |
T |
C |
19: 12,625,497 (GRCm39) |
|
probably benign |
Het |
| Gpr137c |
T |
C |
14: 45,516,202 (GRCm39) |
V312A |
probably damaging |
Het |
| Myt1 |
T |
C |
2: 181,442,908 (GRCm39) |
S466P |
probably damaging |
Het |
| Nlrp5 |
A |
T |
7: 23,141,213 (GRCm39) |
D1078V |
probably damaging |
Het |
| Rad17 |
T |
C |
13: 100,769,782 (GRCm39) |
D259G |
probably damaging |
Het |
| Rpp14 |
G |
A |
14: 8,083,934 (GRCm38) |
G30E |
possibly damaging |
Het |
| Uspl1 |
A |
T |
5: 149,152,024 (GRCm39) |
T1075S |
possibly damaging |
Het |
| Vash1 |
T |
A |
12: 86,727,042 (GRCm39) |
I94N |
possibly damaging |
Het |
| Zfp770 |
T |
C |
2: 114,027,946 (GRCm39) |
E41G |
probably damaging |
Het |
|
| Other mutations in Ggh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03057:Ggh
|
APN |
4 |
20,065,770 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0006:Ggh
|
UTSW |
4 |
20,054,155 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1539:Ggh
|
UTSW |
4 |
20,054,204 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4532:Ggh
|
UTSW |
4 |
20,046,225 (GRCm39) |
missense |
probably benign |
|
|
R6431:Ggh
|
UTSW |
4 |
20,042,219 (GRCm39) |
missense |
unknown |
|
|
R7538:Ggh
|
UTSW |
4 |
20,049,833 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7539:Ggh
|
UTSW |
4 |
20,049,833 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7594:Ggh
|
UTSW |
4 |
20,049,833 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7595:Ggh
|
UTSW |
4 |
20,049,833 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9119:Ggh
|
UTSW |
4 |
20,057,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V7732:Ggh
|
UTSW |
4 |
20,046,225 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation