Incidental Mutation 'R6162:Ggt5'
| ID |
489925 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ggt5
|
| Ensembl Gene |
ENSMUSG00000006344 |
| Gene Name |
gamma-glutamyltransferase 5 |
| Synonyms |
Ggtla1, GGL, gamma-glutamyl leukotrienase, GGT-REL |
| MMRRC Submission |
044309-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6162 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
75425174-75453034 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75425626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 28
(V28D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151283
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006508]
[ENSMUST00000072217]
[ENSMUST00000134503]
[ENSMUST00000189972]
[ENSMUST00000218807]
|
| AlphaFold |
Q9Z2A9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006508
|
| SMART Domains |
Protein: ENSMUSP00000006508
Gene: ENSMUSG00000006345
| 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 |
noncoding transcript
Transcript: ENSMUST00000044101
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072217
AA Change: V28D
PolyPhen 2
Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000072074
Gene: ENSMUSG00000006344
AA Change: V28D
| 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 |
probably benign
Transcript: ENSMUST00000134503
|
| SMART Domains |
Protein: ENSMUSP00000121312
Gene: ENSMUSG00000006345
| 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 |
noncoding transcript
Transcript: ENSMUST00000156487
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189972
AA Change: V28D
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139459
Gene: ENSMUSG00000006344
AA Change: V28D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218807
AA Change: V28D
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219214
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189991
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219247
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the gamma-glutamyl transpeptidase gene family, and some reports indicate that it is capable of cleaving the gamma-glutamyl moiety of glutathione. The protein encoded by this gene is synthesized as a single, catalytically-inactive polypeptide, that is processed post-transcriptionally to form a heavy and light subunit, with the catalytic activity contained within the small subunit. The encoded enzyme is able to convert leukotriene C4 to leukotriene D4, but appears to have distinct substrate specificity compared to gamma-glutamyl transpeptidase. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygous mutants show an attenuation in neutrophil recruitment in an experimental model of peritonitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
G |
11: 9,259,047 (GRCm39) |
C2924W |
probably damaging |
Het |
| Adh4 |
T |
A |
3: 138,121,250 (GRCm39) |
|
probably null |
Het |
| Aox3 |
A |
T |
1: 58,198,890 (GRCm39) |
D695V |
possibly damaging |
Het |
| Ccnj |
A |
G |
19: 40,833,606 (GRCm39) |
Y221C |
probably damaging |
Het |
| Cct2 |
T |
A |
10: 116,894,091 (GRCm39) |
D221V |
probably damaging |
Het |
| Cd5 |
G |
A |
19: 10,703,244 (GRCm39) |
T138M |
probably damaging |
Het |
| Cep78 |
A |
T |
19: 15,952,304 (GRCm39) |
M307K |
probably benign |
Het |
| Dclk1 |
C |
A |
3: 55,163,575 (GRCm39) |
D222E |
probably benign |
Het |
| Dhrs11 |
C |
T |
11: 84,719,605 (GRCm39) |
G40D |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,900,382 (GRCm39) |
S3823G |
probably benign |
Het |
| Dnai3 |
T |
A |
3: 145,750,617 (GRCm39) |
I821F |
probably damaging |
Het |
| Dock3 |
A |
T |
9: 106,841,998 (GRCm39) |
Y944N |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,045,318 (GRCm39) |
D17G |
probably damaging |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Fam20a |
G |
T |
11: 109,573,696 (GRCm39) |
S229* |
probably null |
Het |
| Fbn1 |
T |
C |
2: 125,202,147 (GRCm39) |
D1242G |
probably damaging |
Het |
| Gimap4 |
A |
T |
6: 48,667,655 (GRCm39) |
I137F |
probably damaging |
Het |
| Git2 |
T |
A |
5: 114,899,717 (GRCm39) |
H212L |
probably damaging |
Het |
| Gprc6a |
T |
A |
10: 51,491,008 (GRCm39) |
I739F |
probably benign |
Het |
| Il1rl2 |
A |
G |
1: 40,391,038 (GRCm39) |
Y327C |
probably damaging |
Het |
| Lmf1 |
A |
G |
17: 25,831,368 (GRCm39) |
I205V |
probably benign |
Het |
| Mipep |
C |
A |
14: 61,024,853 (GRCm39) |
P98Q |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,944,707 (GRCm39) |
D436G |
probably damaging |
Het |
| Mtcl2 |
T |
A |
2: 156,881,784 (GRCm39) |
E756V |
possibly damaging |
Het |
| Myorg |
A |
G |
4: 41,497,899 (GRCm39) |
V577A |
possibly damaging |
Het |
| Notch1 |
C |
T |
2: 26,352,207 (GRCm39) |
V2035I |
probably benign |
Het |
| Or1e28-ps1 |
T |
A |
11: 73,615,713 (GRCm39) |
I46F |
probably damaging |
Het |
| Or2ag16 |
A |
T |
7: 106,352,227 (GRCm39) |
Y123N |
probably damaging |
Het |
| Or4c118 |
G |
T |
2: 88,975,114 (GRCm39) |
F84L |
probably benign |
Het |
| Oxa1l |
A |
G |
14: 54,605,789 (GRCm39) |
T395A |
probably damaging |
Het |
| Phospho2 |
T |
A |
2: 69,626,375 (GRCm39) |
I177K |
probably damaging |
Het |
| Prpf40a |
T |
C |
2: 53,049,317 (GRCm39) |
T224A |
probably benign |
Het |
| Reln |
T |
A |
5: 22,116,048 (GRCm39) |
T2987S |
probably damaging |
Het |
| Scn5a |
T |
A |
9: 119,351,621 (GRCm39) |
I787F |
probably damaging |
Het |
| Sgsm2 |
A |
T |
11: 74,782,847 (GRCm39) |
D36E |
probably damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,072,401 (GRCm39) |
|
probably null |
Het |
| Tas2r134 |
T |
C |
2: 51,517,571 (GRCm39) |
S17P |
probably damaging |
Het |
| Top3a |
T |
C |
11: 60,636,763 (GRCm39) |
Y609C |
probably damaging |
Het |
| Trem2 |
A |
G |
17: 48,655,694 (GRCm39) |
I84V |
probably damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,234,430 (GRCm39) |
L594P |
probably damaging |
Het |
| Zdbf2 |
A |
T |
1: 63,319,977 (GRCm39) |
|
probably benign |
Het |
| Zfr |
C |
T |
15: 12,146,331 (GRCm39) |
A294V |
unknown |
Het |
|
| Other mutations in Ggt5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01503:Ggt5
|
APN |
10 |
75,445,944 (GRCm39) |
splice site |
probably benign |
|
|
IGL01926:Ggt5
|
APN |
10 |
75,439,935 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02095:Ggt5
|
APN |
10 |
75,444,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02252:Ggt5
|
APN |
10 |
75,438,566 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02393:Ggt5
|
APN |
10 |
75,446,071 (GRCm39) |
splice site |
probably benign |
|
|
IGL02515:Ggt5
|
APN |
10 |
75,425,604 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02528:Ggt5
|
APN |
10 |
75,446,254 (GRCm39) |
splice site |
probably benign |
|
|
IGL02964:Ggt5
|
APN |
10 |
75,439,962 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0646:Ggt5
|
UTSW |
10 |
75,438,482 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0834:Ggt5
|
UTSW |
10 |
75,440,604 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1454:Ggt5
|
UTSW |
10 |
75,445,742 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1650:Ggt5
|
UTSW |
10 |
75,440,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1846:Ggt5
|
UTSW |
10 |
75,446,376 (GRCm39) |
splice site |
probably null |
|
|
R1896:Ggt5
|
UTSW |
10 |
75,440,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2044:Ggt5
|
UTSW |
10 |
75,439,921 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2357:Ggt5
|
UTSW |
10 |
75,445,075 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3151:Ggt5
|
UTSW |
10 |
75,445,076 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4667:Ggt5
|
UTSW |
10 |
75,438,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Ggt5
|
UTSW |
10 |
75,438,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5060:Ggt5
|
UTSW |
10 |
75,440,608 (GRCm39) |
missense |
probably benign |
|
|
R5756:Ggt5
|
UTSW |
10 |
75,440,607 (GRCm39) |
missense |
probably benign |
|
|
R6156:Ggt5
|
UTSW |
10 |
75,445,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6900:Ggt5
|
UTSW |
10 |
75,446,371 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8258:Ggt5
|
UTSW |
10 |
75,450,666 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8259:Ggt5
|
UTSW |
10 |
75,450,666 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9001:Ggt5
|
UTSW |
10 |
75,445,992 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9510:Ggt5
|
UTSW |
10 |
75,445,139 (GRCm39) |
missense |
probably benign |
|
|
R9655:Ggt5
|
UTSW |
10 |
75,444,635 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Ggt5
|
UTSW |
10 |
75,444,593 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Z1176:Ggt5
|
UTSW |
10 |
75,438,452 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAGATCACCCTGTGTAGC -3'
(R):5'- CTGTTGTAGGAAGCCAAACCAC -3'
Sequencing Primer
(F):5'- GAGATCACCCTGTGTAGCTTCTTTTC -3'
(R):5'- GTTGTAGGAAGCCAAACCACACATG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation