Incidental Mutation 'IGL01401:Cd4'
ID |
278341 |
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 # |
IGL01401
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl3 |
T |
C |
5: 81,836,516 (GRCm39) |
V758A |
possibly damaging |
Het |
Arf4 |
T |
C |
14: 26,359,609 (GRCm39) |
L12P |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 36,996,441 (GRCm39) |
N1051S |
probably benign |
Het |
C4bp |
A |
T |
1: 130,575,801 (GRCm39) |
V230E |
possibly damaging |
Het |
Carm1 |
T |
A |
9: 21,480,878 (GRCm39) |
|
probably null |
Het |
Ceacam16 |
T |
C |
7: 19,595,054 (GRCm39) |
Y8C |
probably benign |
Het |
Ckap2l |
A |
T |
2: 129,111,136 (GRCm39) |
V687E |
probably damaging |
Het |
Dcaf4 |
A |
G |
12: 83,588,148 (GRCm39) |
D449G |
probably damaging |
Het |
Dhx38 |
T |
C |
8: 110,278,746 (GRCm39) |
Y1113C |
probably benign |
Het |
Fry |
A |
G |
5: 150,362,253 (GRCm39) |
I161V |
probably benign |
Het |
Gm17093 |
A |
C |
14: 44,758,984 (GRCm39) |
M169L |
unknown |
Het |
Gm20721 |
A |
G |
2: 174,187,295 (GRCm39) |
D999G |
probably damaging |
Het |
Grin2b |
T |
C |
6: 135,713,361 (GRCm39) |
H840R |
probably damaging |
Het |
Hoxc12 |
C |
A |
15: 102,845,755 (GRCm39) |
H156Q |
probably benign |
Het |
Htr3b |
T |
C |
9: 48,858,934 (GRCm39) |
D68G |
probably damaging |
Het |
Inpp5b |
T |
C |
4: 124,639,880 (GRCm39) |
V99A |
probably damaging |
Het |
Klhl42 |
C |
T |
6: 147,009,241 (GRCm39) |
T360M |
probably benign |
Het |
Lmo7 |
C |
T |
14: 102,031,713 (GRCm39) |
R36* |
probably null |
Het |
Lmod3 |
T |
G |
6: 97,229,513 (GRCm39) |
N7T |
probably damaging |
Het |
Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
Mthfd2l |
T |
A |
5: 91,148,425 (GRCm39) |
I284K |
possibly damaging |
Het |
Myo1e |
T |
A |
9: 70,234,448 (GRCm39) |
I267N |
probably damaging |
Het |
Or13c7d |
T |
C |
4: 43,770,112 (GRCm39) |
R300G |
probably damaging |
Het |
Or2y1g |
T |
A |
11: 49,171,314 (GRCm39) |
V113E |
possibly damaging |
Het |
Prkce |
T |
C |
17: 86,476,268 (GRCm39) |
V83A |
probably damaging |
Het |
Pxdn |
G |
T |
12: 30,051,983 (GRCm39) |
C540F |
probably damaging |
Het |
Resf1 |
A |
G |
6: 149,228,394 (GRCm39) |
E480G |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,606,238 (GRCm39) |
E4448V |
possibly damaging |
Het |
Scn1a |
A |
T |
2: 66,119,455 (GRCm39) |
N1349K |
probably damaging |
Het |
Smarcc1 |
T |
C |
9: 109,979,033 (GRCm39) |
I172T |
possibly damaging |
Het |
Syt16 |
T |
C |
12: 74,269,437 (GRCm39) |
V92A |
possibly damaging |
Het |
Tenm4 |
A |
G |
7: 96,523,474 (GRCm39) |
Y1672C |
probably damaging |
Het |
Tmem131 |
A |
G |
1: 36,838,468 (GRCm39) |
Y1486H |
probably damaging |
Het |
Tmem132a |
A |
G |
19: 10,838,888 (GRCm39) |
|
probably benign |
Het |
Usp40 |
A |
T |
1: 87,921,920 (GRCm39) |
D314E |
probably damaging |
Het |
Vmn2r79 |
G |
A |
7: 86,686,481 (GRCm39) |
V621I |
probably benign |
Het |
Wnk4 |
A |
G |
11: 101,167,509 (GRCm39) |
|
probably benign |
Het |
Wwc1 |
C |
A |
11: 35,789,445 (GRCm39) |
|
probably null |
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 |
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 |
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 |