Incidental Mutation 'V7732:Ggh'
| ID |
44029 |
| Institutional Source |
Beutler Lab
|
| 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 # |
V7732 ()
of strain
may
|
| Quality Score |
153 |
|
Status
|
Validated
(trace)
|
| Chromosome |
4 |
| Chromosomal Location |
20041963-20066111 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 20046225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 44
(F44L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098242]
|
| AlphaFold |
Q9Z0L8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098242
AA Change: F44L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095843
Gene: ENSMUSG00000073987
AA Change: F44L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180742
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.9%
- 20x: 90.3%
|
| Validation Efficiency |
96% (25/26) |
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
T |
C |
16: 35,103,911 (GRCm39) |
F793L |
probably benign |
Het |
| Atmin |
C |
T |
8: 117,683,218 (GRCm39) |
P293S |
probably damaging |
Het |
| Card11 |
G |
A |
5: 140,862,250 (GRCm39) |
R1016* |
probably null |
Het |
| Cep89 |
A |
G |
7: 35,102,523 (GRCm39) |
S79G |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,991,670 (GRCm39) |
V2227A |
probably benign |
Het |
| Clcn6 |
A |
G |
4: 148,098,412 (GRCm39) |
V534A |
probably damaging |
Het |
| Dpep2 |
T |
A |
8: 106,715,892 (GRCm39) |
H124L |
probably damaging |
Het |
| Elfn1 |
G |
A |
5: 139,957,194 (GRCm39) |
R66Q |
probably damaging |
Het |
| Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
| Gpr37 |
T |
C |
6: 25,669,122 (GRCm39) |
Y574C |
probably benign |
Het |
| Heatr5a |
C |
A |
12: 51,952,107 (GRCm39) |
A1178S |
possibly damaging |
Het |
| Igsf9 |
A |
G |
1: 172,317,960 (GRCm39) |
T106A |
probably benign |
Het |
| Itpr3 |
G |
C |
17: 27,330,000 (GRCm39) |
|
probably null |
Het |
| Itpr3 |
G |
T |
17: 27,329,998 (GRCm39) |
|
probably benign |
Het |
| Nlrp6 |
G |
A |
7: 140,506,561 (GRCm39) |
|
probably benign |
Het |
| Rabac1 |
T |
A |
7: 24,671,644 (GRCm39) |
Q51L |
probably damaging |
Het |
| Rgma |
A |
G |
7: 73,067,068 (GRCm39) |
T108A |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Sarm1 |
T |
A |
11: 78,378,891 (GRCm39) |
T385S |
probably benign |
Het |
| Spata17 |
T |
C |
1: 186,780,677 (GRCm39) |
T357A |
possibly damaging |
Het |
| Ufl1 |
T |
C |
4: 25,251,368 (GRCm39) |
I711V |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,378,172 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ggh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00478:Ggh
|
APN |
4 |
20,057,965 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAACTCAGATGGTCCTTCCCCAATAC -3'
(R):5'- TTGTGGCTGAAATCAGATGCAACAAC -3'
Sequencing Primer
(F):5'- CTTTCCCAACAACTGTGGGTAAAC -3'
(R):5'- CAGATGCAACAACACTCCTTTTAATG -3'
|
| Posted On |
2013-05-31 |
Incidental Mutation