Incidental Mutation 'IGL02624:Cd3g'
ID |
301011 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cd3g
|
Ensembl Gene |
ENSMUSG00000002033 |
Gene Name |
CD3 antigen, gamma polypeptide |
Synonyms |
Ctg3, T3g, Ctg-3 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
IGL02624
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
44880870-44891729 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 44885459 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125151
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002101]
[ENSMUST00000002101]
[ENSMUST00000160886]
[ENSMUST00000160886]
|
AlphaFold |
P11942 |
Predicted Effect |
probably null
Transcript: ENSMUST00000002101
|
SMART Domains |
Protein: ENSMUSP00000002101 Gene: ENSMUSG00000002033
Domain | Start | End | E-Value | Type |
IGc2
|
37 |
94 |
3.51e-8 |
SMART |
transmembrane domain
|
115 |
137 |
N/A |
INTRINSIC |
ITAM
|
157 |
177 |
2.06e-3 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000002101
|
SMART Domains |
Protein: ENSMUSP00000002101 Gene: ENSMUSG00000002033
Domain | Start | End | E-Value | Type |
IGc2
|
37 |
94 |
3.51e-8 |
SMART |
transmembrane domain
|
115 |
137 |
N/A |
INTRINSIC |
ITAM
|
157 |
177 |
2.06e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159019
|
Predicted Effect |
probably null
Transcript: ENSMUST00000160886
|
SMART Domains |
Protein: ENSMUSP00000125151 Gene: ENSMUSG00000002033
Domain | Start | End | E-Value | Type |
IGc2
|
29 |
86 |
3.51e-8 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000160886
|
SMART Domains |
Protein: ENSMUSP00000125151 Gene: ENSMUSG00000002033
Domain | Start | End | E-Value | Type |
IGc2
|
29 |
86 |
3.51e-8 |
SMART |
|
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 is the CD3-gamma polypeptide, which together with CD3-epsilon, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. Defects in this gene are associated with T cell immunodeficiency. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased thymocyte number and T cell response. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930004D18Rik |
A |
G |
2: 18,032,004 (GRCm39) |
V38A |
unknown |
Het |
Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
Brk1 |
T |
G |
6: 113,581,805 (GRCm39) |
I22M |
possibly damaging |
Het |
Cep192 |
T |
C |
18: 68,013,866 (GRCm39) |
V2422A |
probably benign |
Het |
Ces2g |
T |
C |
8: 105,691,380 (GRCm39) |
V172A |
probably damaging |
Het |
Clcn2 |
G |
T |
16: 20,522,098 (GRCm39) |
S830R |
probably damaging |
Het |
Cyp26b1 |
T |
C |
6: 84,561,321 (GRCm39) |
S114G |
probably benign |
Het |
Dnali1 |
T |
C |
4: 124,952,791 (GRCm39) |
Q244R |
probably benign |
Het |
Entpd1 |
A |
T |
19: 40,714,502 (GRCm39) |
K204* |
probably null |
Het |
Gm5070 |
A |
G |
3: 95,318,219 (GRCm39) |
|
noncoding transcript |
Het |
Gpsm2 |
G |
T |
3: 108,589,349 (GRCm39) |
D596E |
probably benign |
Het |
Hectd1 |
C |
T |
12: 51,809,233 (GRCm39) |
A1743T |
possibly damaging |
Het |
Kcnq5 |
T |
G |
1: 21,472,654 (GRCm39) |
L845F |
probably benign |
Het |
Lmx1a |
G |
T |
1: 167,672,192 (GRCm39) |
|
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,408,291 (GRCm39) |
I1795N |
probably damaging |
Het |
Lsp1 |
C |
T |
7: 142,044,288 (GRCm39) |
|
probably benign |
Het |
Mcm6 |
C |
T |
1: 128,277,185 (GRCm39) |
A213T |
possibly damaging |
Het |
Mylk |
G |
T |
16: 34,750,266 (GRCm39) |
V1202L |
probably benign |
Het |
Myo5b |
T |
C |
18: 74,848,010 (GRCm39) |
Y1083H |
probably damaging |
Het |
Ncoa5 |
T |
A |
2: 164,854,981 (GRCm39) |
D47V |
probably damaging |
Het |
Npat |
C |
T |
9: 53,478,110 (GRCm39) |
T954I |
probably damaging |
Het |
Or2b28 |
A |
G |
13: 21,531,682 (GRCm39) |
T195A |
probably benign |
Het |
Or5p1 |
A |
T |
7: 107,916,130 (GRCm39) |
T10S |
probably benign |
Het |
Pfkm |
T |
C |
15: 98,024,276 (GRCm39) |
I428T |
probably benign |
Het |
Rai1 |
T |
C |
11: 60,079,569 (GRCm39) |
F1211S |
probably damaging |
Het |
Reln |
T |
C |
5: 22,308,355 (GRCm39) |
E338G |
probably benign |
Het |
Tbx18 |
T |
C |
9: 87,609,459 (GRCm39) |
Y192C |
probably damaging |
Het |
Tex21 |
T |
A |
12: 76,261,398 (GRCm39) |
D250V |
probably damaging |
Het |
Tpo |
A |
G |
12: 30,150,413 (GRCm39) |
V489A |
probably benign |
Het |
Tspo |
T |
C |
15: 83,455,616 (GRCm39) |
M1T |
probably null |
Het |
Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
Wnk2 |
C |
T |
13: 49,256,278 (GRCm39) |
G281D |
probably damaging |
Het |
Zfhx2 |
T |
C |
14: 55,304,085 (GRCm39) |
T1300A |
probably benign |
Het |
|
Other mutations in Cd3g |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01881:Cd3g
|
APN |
9 |
44,882,566 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02750:Cd3g
|
APN |
9 |
44,882,608 (GRCm39) |
unclassified |
probably benign |
|
IGL03097:Cd3g
|
UTSW |
9 |
44,882,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R1711:Cd3g
|
UTSW |
9 |
44,885,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R2076:Cd3g
|
UTSW |
9 |
44,885,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R3614:Cd3g
|
UTSW |
9 |
44,891,587 (GRCm39) |
missense |
probably benign |
0.39 |
R4514:Cd3g
|
UTSW |
9 |
44,884,882 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5732:Cd3g
|
UTSW |
9 |
44,884,929 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6520:Cd3g
|
UTSW |
9 |
44,882,613 (GRCm39) |
splice site |
probably null |
|
R7447:Cd3g
|
UTSW |
9 |
44,884,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R7776:Cd3g
|
UTSW |
9 |
44,885,459 (GRCm39) |
critical splice donor site |
probably null |
|
R9041:Cd3g
|
UTSW |
9 |
44,884,818 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Posted On |
2015-04-16 |