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) question?
Stock # IGL01296
Quality Score
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

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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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