Incidental Mutation 'IGL00784:Cd4'
| ID |
277947 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd4
|
| Ensembl Gene |
ENSMUSG00000023274 |
| Gene Name |
CD4 antigen |
| Synonyms |
Ly-4, L3T4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00784
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
124841655-124865184 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124849952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 121
(V121A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024044]
|
| AlphaFold |
P06332 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024044
AA Change: V121A
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000024044
Gene: ENSMUSG00000023274
AA Change: V121A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
21 |
N/A |
INTRINSIC |
|
IGv
|
37 |
114 |
7.02e-8 |
SMART |
|
IG
|
131 |
206 |
3.63e-1 |
SMART |
|
IG
|
212 |
317 |
3.36e0 |
SMART |
|
transmembrane domain
|
394 |
416 |
N/A |
INTRINSIC |
|
Pfam:Tcell_CD4_C
|
425 |
452 |
2.2e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145818
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145977
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151594
|
| 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 encodes a membrane glycoprotein of T lymphocytes that interacts with major histocompatibility complex class II antigenes and is also a receptor for the human immunodeficiency virus. This gene is expressed not only in T lymphocytes, but also in B cells, macrophages, and granulocytes. It is also expressed in specific regions of the brain. The protein functions to initiate or augment the early phase of T-cell activation, and may function as an important mediator of indirect neuronal damage in infectious and immune-mediated diseases of the central nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for knock-out alleles exhibit abnormal immune system morphology and physiology. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(25) : Targeted(13) Gene trapped(6) Spontaneous(2) Chemically induced(4)
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
A |
G |
17: 14,069,525 (GRCm39) |
|
probably benign |
Het |
| Arhgef33 |
A |
T |
17: 80,675,659 (GRCm39) |
I403L |
probably benign |
Het |
| Cep89 |
T |
A |
7: 35,105,132 (GRCm39) |
V132E |
possibly damaging |
Het |
| Dock10 |
A |
G |
1: 80,550,166 (GRCm39) |
|
probably benign |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Hnrnpl |
T |
C |
7: 28,520,067 (GRCm39) |
F482L |
probably benign |
Het |
| Ift122 |
T |
A |
6: 115,882,863 (GRCm39) |
H659Q |
probably benign |
Het |
| Jhy |
T |
C |
9: 40,834,048 (GRCm39) |
T291A |
probably benign |
Het |
| Nbeal2 |
T |
C |
9: 110,458,831 (GRCm39) |
|
probably benign |
Het |
| Ncaph2 |
A |
G |
15: 89,254,243 (GRCm39) |
D367G |
probably damaging |
Het |
| Nmt2 |
T |
A |
2: 3,315,846 (GRCm39) |
F279I |
probably damaging |
Het |
| Oas2 |
A |
G |
5: 120,876,428 (GRCm39) |
F15S |
probably damaging |
Het |
| Pold2 |
T |
C |
11: 5,822,412 (GRCm39) |
E419G |
probably benign |
Het |
| Scn7a |
T |
G |
2: 66,522,908 (GRCm39) |
E932A |
probably damaging |
Het |
| Stradb |
T |
C |
1: 59,027,688 (GRCm39) |
S73P |
probably damaging |
Het |
| Syce1l |
A |
G |
8: 114,379,494 (GRCm39) |
D120G |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,647,596 (GRCm39) |
G1512E |
probably benign |
Het |
| Vps13b |
G |
T |
15: 35,847,046 (GRCm39) |
D2610Y |
probably damaging |
Het |
|
| Other mutations in Cd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
maat
|
APN |
6 |
124,843,647 (GRCm39) |
unclassified |
probably benign |
|
|
seshat
|
APN |
6 |
124,849,940 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
thoth
|
APN |
6 |
124,850,103 (GRCm39) |
splice site |
probably benign |
|
|
IGL00783:Cd4
|
APN |
6 |
124,849,952 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01294:Cd4
|
APN |
6 |
124,856,341 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01295:Cd4
|
APN |
6 |
124,856,341 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01296:Cd4
|
APN |
6 |
124,856,341 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01298:Cd4
|
APN |
6 |
124,856,341 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01299:Cd4
|
APN |
6 |
124,856,341 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01397:Cd4
|
APN |
6 |
124,856,341 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01401:Cd4
|
APN |
6 |
124,856,341 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01402:Cd4
|
APN |
6 |
124,856,341 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01407:Cd4
|
APN |
6 |
124,856,341 (GRCm39) |
missense |
probably benign |
0.41 |
|
craw
|
UTSW |
6 |
124,844,709 (GRCm39) |
nonsense |
probably null |
|
|
Doubles
|
UTSW |
6 |
124,849,421 (GRCm39) |
missense |
probably benign |
0.01 |
|
fourless
|
UTSW |
6 |
124,847,207 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0152:Cd4
|
UTSW |
6 |
124,844,709 (GRCm39) |
nonsense |
probably null |
|
|
R0196:Cd4
|
UTSW |
6 |
124,844,769 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1769:Cd4
|
UTSW |
6 |
124,843,618 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1992:Cd4
|
UTSW |
6 |
124,844,651 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2126:Cd4
|
UTSW |
6 |
124,847,499 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3237:Cd4
|
UTSW |
6 |
124,844,633 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3706:Cd4
|
UTSW |
6 |
124,856,351 (GRCm39) |
missense |
probably benign |
|
|
R4535:Cd4
|
UTSW |
6 |
124,847,414 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5026:Cd4
|
UTSW |
6 |
124,843,583 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5084:Cd4
|
UTSW |
6 |
124,847,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6628:Cd4
|
UTSW |
6 |
124,856,431 (GRCm39) |
missense |
unknown |
|
|
R6772:Cd4
|
UTSW |
6 |
124,849,421 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7038:Cd4
|
UTSW |
6 |
124,847,217 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7083:Cd4
|
UTSW |
6 |
124,847,535 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7313:Cd4
|
UTSW |
6 |
124,844,066 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7394:Cd4
|
UTSW |
6 |
124,850,004 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7943:Cd4
|
UTSW |
6 |
124,847,207 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9187:Cd4
|
UTSW |
6 |
124,844,651 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation