Incidental Mutation 'R7649:Ggt1'
| ID |
590701 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ggt1
|
| Ensembl Gene |
ENSMUSG00000006345 |
| Gene Name |
gamma-glutamyltransferase 1 |
| Synonyms |
Ggtp, dwg, GGT, CD224 |
| MMRRC Submission |
045646-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R7649 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
75397438-75422034 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75421290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 468
(V468A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006508]
[ENSMUST00000072217]
[ENSMUST00000134503]
[ENSMUST00000189972]
[ENSMUST00000218807]
|
| AlphaFold |
Q60928 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006508
AA Change: V468A
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000006508
Gene: ENSMUSG00000006345
AA Change: V468A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
|
Pfam:G_glu_transpept
|
54 |
563 |
4.9e-179 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072217
|
| SMART Domains |
Protein: ENSMUSP00000072074
Gene: ENSMUSG00000006344
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:G_glu_transpept
|
58 |
568 |
1.6e-164 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129020
|
| SMART Domains |
Protein: ENSMUSP00000118825
Gene: ENSMUSG00000006345
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:G_glu_transpept
|
1 |
263 |
3.3e-88 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134503
AA Change: V468A
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121312
Gene: ENSMUSG00000006345
AA Change: V468A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
22 |
N/A |
INTRINSIC |
|
Pfam:G_glu_transpept
|
54 |
563 |
1.4e-184 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155186
|
| SMART Domains |
Protein: ENSMUSP00000123017
Gene: ENSMUSG00000006345
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:G_glu_transpept
|
1 |
128 |
6.3e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189972
|
| SMART Domains |
Protein: ENSMUSP00000139459
Gene: ENSMUSG00000006344
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189991
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218807
|
| Meta Mutation Damage Score |
0.4021 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (57/58) |
| MGI Phenotype |
FUNCTION: This gene encodes gamma-glutamyl transpeptidase, a plasmamembrane-associated enzyme that cleaves the peptide bond between gamma-glutamyl and cysteinyl glycine moieties of glutathione. The encoded protein is autocatalytically processed to generate an enzymatically active heterodimer comprised of heavy and light chains. Mice lacking the encoded protein grow slowly, develop cataracts and have elevated levels of glutathione in plasma and urine. Transgenic overexpression of the encoded protein in mice enhances osteoclastic bone resorption. The mutant alleles termed 'Dwarf grey' and 'Dwarf grey Bayer' in mice are associated with deletions in this gene. A gamma-glutamyl transpeptidase paralog is located adjacent to this gene. Alternative splicing results in multiple transcript variants. Additional transcripts using alternate promoters and differing in 5' UTRs have been described. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous mutants may exhibit impaired growth, skeletal abnormalities, cataracts, lethargic behavior, premature greying, sterility, and shortened life span. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3b |
T |
C |
5: 26,053,364 (GRCm39) |
V319A |
probably benign |
Het |
| Adam28 |
T |
A |
14: 68,872,282 (GRCm39) |
Y320F |
probably benign |
Het |
| Adam4 |
T |
C |
12: 81,467,151 (GRCm39) |
Y490C |
probably damaging |
Het |
| Ampd3 |
G |
T |
7: 110,377,049 (GRCm39) |
L13F |
probably benign |
Het |
| Arhgap45 |
C |
A |
10: 79,866,835 (GRCm39) |
Q1113K |
probably benign |
Het |
| Arid5b |
T |
C |
10: 67,954,175 (GRCm39) |
T370A |
possibly damaging |
Het |
| Arl15 |
A |
G |
13: 114,104,208 (GRCm39) |
D115G |
possibly damaging |
Het |
| AW146154 |
G |
A |
7: 41,130,156 (GRCm39) |
T320I |
probably benign |
Het |
| Cdh17 |
C |
T |
4: 11,814,698 (GRCm39) |
P751L |
probably damaging |
Het |
| Chchd4 |
C |
T |
6: 91,444,754 (GRCm39) |
R11Q |
probably benign |
Het |
| Clta |
T |
G |
4: 44,025,494 (GRCm39) |
I140R |
possibly damaging |
Het |
| Cnpy1 |
T |
C |
5: 28,412,282 (GRCm39) |
T84A |
probably benign |
Het |
| Cpne5 |
T |
C |
17: 29,445,172 (GRCm39) |
D44G |
probably damaging |
Het |
| Crkl |
T |
C |
16: 17,270,366 (GRCm39) |
S9P |
unknown |
Het |
| Csmd3 |
T |
C |
15: 47,532,539 (GRCm39) |
D1641G |
|
Het |
| Ctnnd2 |
A |
G |
15: 31,027,630 (GRCm39) |
T1185A |
probably benign |
Het |
| Dlc1 |
A |
T |
8: 37,049,894 (GRCm39) |
L607Q |
probably damaging |
Het |
| Dpy19l2 |
T |
C |
9: 24,607,459 (GRCm39) |
M1V |
probably null |
Het |
| Dst |
T |
C |
1: 34,206,778 (GRCm39) |
V982A |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,334,429 (GRCm39) |
I922V |
probably benign |
Het |
| Fbxl13 |
T |
C |
5: 21,819,664 (GRCm39) |
E245G |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,790,928 (GRCm39) |
S730P |
possibly damaging |
Het |
| Gja5 |
A |
T |
3: 96,958,957 (GRCm39) |
H338L |
probably benign |
Het |
| Herpud2 |
T |
C |
9: 25,021,902 (GRCm39) |
E248G |
possibly damaging |
Het |
| Il17rd |
C |
A |
14: 26,761,167 (GRCm39) |
A36E |
probably benign |
Het |
| Irf2bpl |
T |
C |
12: 86,929,572 (GRCm39) |
Y367C |
possibly damaging |
Het |
| Lama1 |
T |
A |
17: 68,044,549 (GRCm39) |
D149E |
|
Het |
| Lipf |
A |
T |
19: 33,943,098 (GRCm39) |
E135D |
possibly damaging |
Het |
| Manea |
T |
A |
4: 26,328,234 (GRCm39) |
D269V |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,349,542 (GRCm39) |
Y910C |
probably damaging |
Het |
| Mical3 |
G |
A |
6: 120,911,909 (GRCm39) |
R1928W |
probably damaging |
Het |
| Or13c3 |
G |
A |
4: 52,855,692 (GRCm39) |
Q274* |
probably null |
Het |
| Or5b108 |
T |
A |
19: 13,168,136 (GRCm39) |
I35N |
possibly damaging |
Het |
| Plch1 |
G |
T |
3: 63,605,590 (GRCm39) |
S1438* |
probably null |
Het |
| Por |
T |
C |
5: 135,763,359 (GRCm39) |
F595L |
probably damaging |
Het |
| Prkcg |
G |
A |
7: 3,378,480 (GRCm39) |
R634H |
probably benign |
Het |
| Prr14l |
C |
T |
5: 32,985,589 (GRCm39) |
G1302D |
probably benign |
Het |
| Rcan3 |
A |
T |
4: 135,139,799 (GRCm39) |
S135T |
probably benign |
Het |
| Rnf223 |
A |
G |
4: 156,216,660 (GRCm39) |
M12V |
probably benign |
Het |
| Rps6kb2 |
A |
G |
19: 4,207,020 (GRCm39) |
S483P |
unknown |
Het |
| Sacs |
T |
A |
14: 61,440,677 (GRCm39) |
F908I |
possibly damaging |
Het |
| Slc4a9 |
A |
G |
18: 36,661,430 (GRCm39) |
Q64R |
probably benign |
Het |
| Slco4c1 |
T |
A |
1: 96,756,667 (GRCm39) |
I552F |
probably benign |
Het |
| Sppl2b |
C |
T |
10: 80,703,253 (GRCm39) |
P505L |
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,061,002 (GRCm39) |
S2434P |
possibly damaging |
Het |
| Ssh1 |
A |
T |
5: 114,088,612 (GRCm39) |
M395K |
probably benign |
Het |
| Stk10 |
A |
T |
11: 32,527,764 (GRCm39) |
I171F |
|
Het |
| Tmx3 |
C |
T |
18: 90,558,154 (GRCm39) |
A402V |
probably damaging |
Het |
| Tnfrsf13c |
T |
C |
15: 82,108,341 (GRCm39) |
D58G |
possibly damaging |
Het |
| Tnk1 |
T |
C |
11: 69,744,403 (GRCm39) |
|
probably null |
Het |
| Trav14n-3 |
A |
T |
14: 53,607,951 (GRCm39) |
N94Y |
probably damaging |
Het |
| Trav5-4 |
A |
T |
14: 53,941,902 (GRCm39) |
K92* |
probably null |
Het |
| Tsga10 |
C |
T |
1: 37,874,229 (GRCm39) |
R190H |
unknown |
Het |
| Zfhx3 |
T |
C |
8: 109,678,276 (GRCm39) |
F3109L |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,307,170 (GRCm39) |
Y132C |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 13,977,413 (GRCm39) |
E1000G |
probably damaging |
Het |
|
| Other mutations in Ggt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00954:Ggt1
|
APN |
10 |
75,420,697 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01593:Ggt1
|
APN |
10 |
75,421,121 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02713:Ggt1
|
APN |
10 |
75,410,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03276:Ggt1
|
APN |
10 |
75,416,331 (GRCm39) |
unclassified |
probably benign |
|
|
chained
|
UTSW |
10 |
75,421,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
religion
|
UTSW |
10 |
75,421,290 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
rigidity
|
UTSW |
10 |
75,415,185 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
PIT4498001:Ggt1
|
UTSW |
10 |
75,414,689 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0373:Ggt1
|
UTSW |
10 |
75,415,104 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0420:Ggt1
|
UTSW |
10 |
75,412,047 (GRCm39) |
splice site |
probably benign |
|
|
R0505:Ggt1
|
UTSW |
10 |
75,421,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0630:Ggt1
|
UTSW |
10 |
75,421,336 (GRCm39) |
splice site |
probably null |
|
|
R1837:Ggt1
|
UTSW |
10 |
75,415,128 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2655:Ggt1
|
UTSW |
10 |
75,417,219 (GRCm39) |
nonsense |
probably null |
|
|
R2656:Ggt1
|
UTSW |
10 |
75,417,219 (GRCm39) |
nonsense |
probably null |
|
|
R2910:Ggt1
|
UTSW |
10 |
75,416,430 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3840:Ggt1
|
UTSW |
10 |
75,417,219 (GRCm39) |
nonsense |
probably null |
|
|
R3841:Ggt1
|
UTSW |
10 |
75,417,219 (GRCm39) |
nonsense |
probably null |
|
|
R4744:Ggt1
|
UTSW |
10 |
75,421,733 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5254:Ggt1
|
UTSW |
10 |
75,415,032 (GRCm39) |
splice site |
probably null |
|
|
R5323:Ggt1
|
UTSW |
10 |
75,421,495 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5326:Ggt1
|
UTSW |
10 |
75,421,540 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5512:Ggt1
|
UTSW |
10 |
75,420,718 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5579:Ggt1
|
UTSW |
10 |
75,421,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5707:Ggt1
|
UTSW |
10 |
75,421,072 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5961:Ggt1
|
UTSW |
10 |
75,421,736 (GRCm39) |
splice site |
probably null |
|
|
R6159:Ggt1
|
UTSW |
10 |
75,420,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6239:Ggt1
|
UTSW |
10 |
75,421,515 (GRCm39) |
splice site |
probably null |
|
|
R7224:Ggt1
|
UTSW |
10 |
75,410,110 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7570:Ggt1
|
UTSW |
10 |
75,421,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7702:Ggt1
|
UTSW |
10 |
75,412,116 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7713:Ggt1
|
UTSW |
10 |
75,421,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7823:Ggt1
|
UTSW |
10 |
75,410,175 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8070:Ggt1
|
UTSW |
10 |
75,414,733 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8185:Ggt1
|
UTSW |
10 |
75,421,040 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8260:Ggt1
|
UTSW |
10 |
75,417,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8441:Ggt1
|
UTSW |
10 |
75,415,185 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8832:Ggt1
|
UTSW |
10 |
75,410,173 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8988:Ggt1
|
UTSW |
10 |
75,412,056 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9272:Ggt1
|
UTSW |
10 |
75,421,749 (GRCm39) |
missense |
probably benign |
|
|
R9295:Ggt1
|
UTSW |
10 |
75,421,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9355:Ggt1
|
UTSW |
10 |
75,421,716 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCATCAAGCCAGGTGCAGG -3'
(R):5'- TAGGTAAAAGCTGGTTGTGCAG -3'
Sequencing Primer
(F):5'- GTGCAGGGTGGGAATCC -3'
(R):5'- ACAGCTCTCTTCACATCGTATCCG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation