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) question?
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

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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