Incidental Mutation 'IGL01299:Cd4'
ID278299
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 #IGL01299
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,298,743 T2830I probably benign Het
Akap1 C T 11: 88,844,254 probably null Het
Cdk12 C T 11: 98,210,446 R377C unknown Het
Cox6b1 G A 7: 30,617,128 T81I possibly damaging Het
Creb1 T C 1: 64,570,125 probably benign Het
Cyp4f40 G T 17: 32,667,974 A140S probably benign Het
Dus4l A G 12: 31,640,824 M276T probably benign Het
Dync1h1 G T 12: 110,614,107 R134L probably benign Het
Fmo2 A T 1: 162,878,030 N413K probably benign Het
Gabrp T C 11: 33,554,476 T280A probably damaging Het
Golph3l A G 3: 95,617,277 T217A possibly damaging Het
Mtr T C 13: 12,225,650 probably benign Het
Nbea T G 3: 55,690,894 D2398A probably damaging Het
Olfr399 T A 11: 74,054,475 I95F probably benign Het
Phyh T A 2: 4,930,793 W193R probably null Het
Rab36 A G 10: 75,048,466 Q82R probably damaging Het
Ranbp2 T C 10: 58,492,817 V2846A probably damaging Het
Rprd2 G A 3: 95,776,547 S374L probably damaging Het
Slc9a3 A G 13: 74,160,263 R462G probably benign Het
Slitrk3 T C 3: 73,049,016 N808D probably benign Het
Tbck A T 3: 132,724,877 I345F probably damaging Het
Tor2a T A 2: 32,759,546 V146D probably damaging Het
Trpc6 C A 9: 8,653,061 Q623K probably damaging Het
Ube2q1 A G 3: 89,781,374 S192G probably damaging Het
Vnn1 T A 10: 23,895,051 L59Q probably 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
IGL01294:Cd4 APN 6 124879378 missense probably benign 0.41
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
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