Incidental Mutation 'IGL01296:Cd4'
ID |
278257 |
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 # |
IGL01296
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
124841655-124865184 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 124856341 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 50
(T50I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024044
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024044]
|
AlphaFold |
P06332 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024044
AA Change: T50I
PolyPhen 2
Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000024044 Gene: ENSMUSG00000023274 AA Change: T50I
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: ENSMUST00000130378
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadl |
A |
G |
1: 66,880,864 (GRCm39) |
S301P |
probably damaging |
Het |
Adam34 |
A |
G |
8: 44,104,178 (GRCm39) |
V489A |
possibly damaging |
Het |
Adcy8 |
G |
A |
15: 64,655,628 (GRCm39) |
T617I |
probably damaging |
Het |
Aggf1 |
T |
C |
13: 95,490,479 (GRCm39) |
D605G |
probably damaging |
Het |
Atp10a |
T |
A |
7: 58,463,373 (GRCm39) |
F969I |
probably benign |
Het |
Becn1 |
A |
T |
11: 101,182,277 (GRCm39) |
N97K |
probably damaging |
Het |
Crtac1 |
A |
T |
19: 42,272,652 (GRCm39) |
C578S |
probably damaging |
Het |
Dcp1b |
A |
G |
6: 119,192,319 (GRCm39) |
K412E |
probably damaging |
Het |
Dlg2 |
T |
A |
7: 91,589,267 (GRCm39) |
I327N |
probably damaging |
Het |
Ehf |
T |
A |
2: 103,098,500 (GRCm39) |
|
probably null |
Het |
Elavl4 |
T |
C |
4: 110,063,809 (GRCm39) |
N264S |
probably benign |
Het |
Enpp2 |
A |
T |
15: 54,739,065 (GRCm39) |
I406N |
probably damaging |
Het |
F10 |
A |
T |
8: 13,105,383 (GRCm39) |
Y316F |
possibly damaging |
Het |
Fam20a |
A |
G |
11: 109,576,177 (GRCm39) |
I194T |
possibly damaging |
Het |
Fcgbp |
T |
C |
7: 27,789,072 (GRCm39) |
V546A |
probably benign |
Het |
Fras1 |
A |
T |
5: 96,821,557 (GRCm39) |
Q1438L |
probably null |
Het |
Gm43638 |
T |
C |
5: 87,608,451 (GRCm39) |
I463V |
probably benign |
Het |
H2-T10 |
T |
C |
17: 36,431,602 (GRCm39) |
D84G |
probably benign |
Het |
Itpr1 |
T |
C |
6: 108,376,322 (GRCm39) |
F1262L |
probably damaging |
Het |
Lama1 |
A |
G |
17: 68,052,046 (GRCm39) |
N335D |
probably benign |
Het |
Lasp1 |
T |
C |
11: 97,727,016 (GRCm39) |
V246A |
probably damaging |
Het |
Lrrk2 |
A |
T |
15: 91,567,345 (GRCm39) |
I135L |
probably benign |
Het |
Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
Mctp2 |
T |
C |
7: 71,878,274 (GRCm39) |
K268R |
probably benign |
Het |
Nbea |
A |
T |
3: 55,938,957 (GRCm39) |
H710Q |
probably benign |
Het |
Notch3 |
G |
A |
17: 32,385,731 (GRCm39) |
R13C |
unknown |
Het |
Ogfod1 |
A |
T |
8: 94,782,299 (GRCm39) |
|
probably benign |
Het |
Or1j11 |
A |
G |
2: 36,311,716 (GRCm39) |
Y102C |
probably benign |
Het |
Or5b111 |
A |
G |
19: 13,291,490 (GRCm39) |
L53P |
probably damaging |
Het |
Or8d2 |
T |
C |
9: 38,759,548 (GRCm39) |
I46T |
probably damaging |
Het |
Pgm3 |
A |
G |
9: 86,443,932 (GRCm39) |
V324A |
probably damaging |
Het |
Ppfia2 |
A |
T |
10: 106,694,068 (GRCm39) |
I681F |
probably damaging |
Het |
Prss23 |
T |
C |
7: 89,159,095 (GRCm39) |
K325E |
possibly damaging |
Het |
Psmd7 |
T |
A |
8: 108,313,249 (GRCm39) |
|
probably benign |
Het |
Rfx2 |
T |
A |
17: 57,115,317 (GRCm39) |
M1L |
possibly damaging |
Het |
Rpa1 |
T |
C |
11: 75,203,141 (GRCm39) |
Y418C |
probably damaging |
Het |
Rps6kc1 |
C |
T |
1: 190,505,875 (GRCm39) |
R1029H |
probably damaging |
Het |
Septin10 |
A |
G |
10: 59,002,422 (GRCm39) |
V391A |
probably benign |
Het |
Skint6 |
A |
G |
4: 113,093,637 (GRCm39) |
F169L |
probably benign |
Het |
Slc44a4 |
C |
T |
17: 35,140,674 (GRCm39) |
T289I |
probably benign |
Het |
Spata31e5 |
T |
C |
1: 28,816,137 (GRCm39) |
I632V |
probably benign |
Het |
Srl |
T |
C |
16: 4,315,546 (GRCm39) |
D32G |
probably damaging |
Het |
Stxbp3-ps |
T |
A |
19: 9,535,256 (GRCm39) |
|
noncoding transcript |
Het |
Sult1b1 |
T |
C |
5: 87,662,815 (GRCm39) |
D295G |
probably benign |
Het |
Tmprss7 |
A |
G |
16: 45,504,937 (GRCm39) |
V151A |
probably damaging |
Het |
Trmo |
A |
G |
4: 46,387,589 (GRCm39) |
L84P |
probably damaging |
Het |
Vmn2r98 |
T |
A |
17: 19,285,447 (GRCm39) |
I89N |
probably damaging |
Het |
Zcwpw1 |
G |
A |
5: 137,795,061 (GRCm39) |
A86T |
probably benign |
Het |
Zkscan16 |
A |
G |
4: 58,956,690 (GRCm39) |
H324R |
possibly 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 |
IGL00784: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 |
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 |