Incidental Mutation 'IGL01294:Cd4'
ID278253
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd4
Ensembl Gene ENSMUSG00000023274
Gene NameCD4 antigen
SynonymsL3T4, Ly-4
Accession Numbers

Genbank: NM_013488; MGI: 88335

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01294
Quality Score
Status
Chromosome6
Chromosomal Location124864692-124888221 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 124879378 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 50 (T50I)
Ref Sequence ENSEMBL: ENSMUSP00000024044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024044]
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

DomainStartEndE-ValueType
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A T 7: 128,237,119 S101T probably benign Het
Apol11b G A 15: 77,638,019 T26M probably damaging Het
Arglu1 G T 8: 8,683,739 probably benign Het
Cacna2d2 T G 9: 107,514,081 Y436D probably damaging Het
Cpne8 G A 15: 90,501,445 S460L probably damaging Het
Crat G A 2: 30,405,187 A436V probably damaging Het
Dmd T C X: 84,431,998 probably null Het
Emilin2 G T 17: 71,274,594 A379E probably benign Het
Ercc2 A G 7: 19,390,417 I445V probably benign Het
Evc2 T C 5: 37,347,510 probably null Het
Filip1l A T 16: 57,572,348 K1100* probably null Het
Gm4353 T A 7: 116,083,842 D168V possibly damaging Het
H2afy A T 13: 56,074,300 V346E probably damaging Het
Hsf4 G T 8: 105,275,657 *417L probably null Het
Kmt2a A G 9: 44,820,297 probably benign Het
Mpzl1 A G 1: 165,593,608 S261P probably damaging Het
Mre11a T C 9: 14,830,915 S621P probably damaging Het
Muc6 T C 7: 141,646,659 Y934C probably damaging Het
Naip5 A G 13: 100,217,080 S1224P probably damaging Het
Nwd1 A T 8: 72,711,745 N1474Y probably damaging Het
Olfr704 T C 7: 106,865,763 L261S probably damaging Het
Ptbp2 A G 3: 119,747,812 V192A probably damaging Het
Rfx2 T C 17: 56,783,657 Y421C probably damaging Het
Sfmbt2 T A 2: 10,590,421 probably benign Het
Slc4a10 A C 2: 62,253,309 probably null Het
Slitrk6 T C 14: 110,750,074 M734V probably benign Het
Tap1 T C 17: 34,194,045 probably null Het
Tep1 A G 14: 50,829,657 probably benign Het
Uba6 T A 5: 86,150,048 I256L possibly damaging Het
Wnt3 A T 11: 103,808,314 H82L possibly damaging Het
Other mutations in Cd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
maat APN 6 124866684 unclassified probably benign
seshat APN 6 124872977 missense possibly damaging 0.81
thoth APN 6 124873140 splice site probably benign
IGL00783:Cd4 APN 6 124872989 missense possibly damaging 0.81
IGL00784:Cd4 APN 6 124872989 missense possibly damaging 0.81
IGL01295:Cd4 APN 6 124879378 missense probably benign 0.41
IGL01296:Cd4 APN 6 124879378 missense probably benign 0.41
IGL01298:Cd4 APN 6 124879378 missense probably benign 0.41
IGL01299:Cd4 APN 6 124879378 missense probably benign 0.41
IGL01397:Cd4 APN 6 124879378 missense probably benign 0.41
IGL01401:Cd4 APN 6 124879378 missense probably benign 0.41
IGL01402:Cd4 APN 6 124879378 missense probably benign 0.41
IGL01407:Cd4 APN 6 124879378 missense probably benign 0.41
craw UTSW 6 124867746 nonsense probably null
Doubles UTSW 6 124872458 missense probably benign 0.01
fourless UTSW 6 124870244 critical splice donor site probably null
R0152:Cd4 UTSW 6 124867746 nonsense probably null
R0196:Cd4 UTSW 6 124867806 missense probably damaging 0.97
R1769:Cd4 UTSW 6 124866655 missense possibly damaging 0.71
R1992:Cd4 UTSW 6 124867688 missense possibly damaging 0.59
R2126:Cd4 UTSW 6 124870536 missense probably benign 0.01
R3237:Cd4 UTSW 6 124867670 missense probably benign 0.37
R3706:Cd4 UTSW 6 124879388 missense probably benign
R4535:Cd4 UTSW 6 124870451 missense probably benign 0.01
R5026:Cd4 UTSW 6 124866620 missense possibly damaging 0.95
R5084:Cd4 UTSW 6 124870439 missense probably damaging 1.00
R6628:Cd4 UTSW 6 124879468 missense unknown
R6772:Cd4 UTSW 6 124872458 missense probably benign 0.01
R7038:Cd4 UTSW 6 124870254 missense probably damaging 0.98
R7083:Cd4 UTSW 6 124870572 missense probably benign 0.16
R7313:Cd4 UTSW 6 124867103 missense probably benign 0.15
R7394:Cd4 UTSW 6 124873041 missense probably benign 0.00
R7943:Cd4 UTSW 6 124870244 critical splice donor site probably null
Posted On2015-04-16