Incidental Mutation 'IGL01295:Cd4'
ID 278255
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 # IGL01295
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik G T 14: 32,383,893 (GRCm39) L691I possibly damaging Het
Ano7 A G 1: 93,308,200 (GRCm39) D77G probably benign Het
Apol10b A T 15: 77,469,796 (GRCm39) V127E probably damaging Het
Apol11b G A 15: 77,522,219 (GRCm39) T26M probably damaging Het
Atn1 T C 6: 124,726,239 (GRCm39) E80G probably damaging Het
Carmil2 T C 8: 106,422,148 (GRCm39) M1139T probably benign Het
Celf5 G T 10: 81,302,914 (GRCm39) probably benign Het
Chd6 G A 2: 160,830,290 (GRCm39) probably benign Het
Col12a1 A T 9: 79,551,208 (GRCm39) V2136E probably damaging Het
Col4a1 G T 8: 11,286,075 (GRCm39) probably benign Het
Dph1 A G 11: 75,071,775 (GRCm39) probably benign Het
Dvl2 G T 11: 69,900,410 (GRCm39) V735F possibly damaging Het
Eif3b A G 5: 140,427,495 (GRCm39) I709V possibly damaging Het
Elp5 C T 11: 69,859,296 (GRCm39) probably benign Het
Exd1 A T 2: 119,360,560 (GRCm39) probably benign Het
Fbxl4 C A 4: 22,427,348 (GRCm39) R530S probably benign Het
Fmo4 A T 1: 162,626,693 (GRCm39) D284E probably damaging Het
Fn3krp A G 11: 121,312,380 (GRCm39) Y31C probably damaging Het
Galnt14 G T 17: 73,811,914 (GRCm39) Q436K probably benign Het
Gm5114 A T 7: 39,057,241 (GRCm39) W793R probably damaging Het
Gm9376 T G 14: 118,505,059 (GRCm39) S164A possibly damaging Het
Gtf2ird2 G A 5: 134,221,603 (GRCm39) D69N probably damaging Het
Hfm1 A C 5: 107,065,472 (GRCm39) M69R possibly damaging Het
Ighv9-1 A C 12: 114,057,619 (GRCm39) S94A probably damaging Het
Ikzf2 C T 1: 69,617,146 (GRCm39) R67H probably benign Het
Ipcef1 A T 10: 6,850,642 (GRCm39) F316L probably damaging Het
Kdsr A G 1: 106,683,187 (GRCm39) V62A possibly damaging Het
Kif23 A T 9: 61,839,411 (GRCm39) C279S possibly damaging Het
Klf5 C T 14: 99,539,157 (GRCm39) T110I probably benign Het
Klhl25 T A 7: 75,515,620 (GRCm39) H175Q probably benign Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Nfatc4 T C 14: 56,069,962 (GRCm39) V710A probably benign Het
Optn G A 2: 5,037,967 (GRCm39) T409I possibly damaging Het
Or10j3b A T 1: 173,043,440 (GRCm39) Y74F probably damaging Het
Or52a5 C T 7: 103,427,448 (GRCm39) V35I probably benign Het
Pabpc2 T A 18: 39,907,082 (GRCm39) Y116N probably damaging Het
Pafah1b1 G T 11: 74,574,473 (GRCm39) R238S probably damaging Het
Pdzd9 C T 7: 120,267,618 (GRCm39) G66R probably damaging Het
Pih1d1 T C 7: 44,809,388 (GRCm39) L285P probably damaging Het
Pirb G A 7: 3,720,405 (GRCm39) P323S probably damaging Het
Pkd1l1 A G 11: 8,883,685 (GRCm39) F396L possibly damaging Het
Pla2g4d G A 2: 120,112,207 (GRCm39) T108M probably damaging Het
Plin3 T C 17: 56,586,814 (GRCm39) Y411C probably damaging Het
Ppfibp2 T C 7: 107,346,746 (GRCm39) probably benign Het
Prrc2c T C 1: 162,510,061 (GRCm39) S995G probably damaging Het
Ptf1a T C 2: 19,451,429 (GRCm39) I253T probably damaging Het
Ptprb A G 10: 116,198,553 (GRCm39) I1684V probably benign Het
Ptprk G A 10: 28,351,174 (GRCm39) V556I probably benign Het
Rffl A T 11: 82,709,283 (GRCm39) C47S probably damaging Het
Rnf17 C T 14: 56,700,521 (GRCm39) Q569* probably null Het
Shprh A G 10: 11,059,612 (GRCm39) E1121G probably damaging Het
Slc1a5 A G 7: 16,529,787 (GRCm39) D402G probably damaging Het
Slc24a3 G A 2: 145,458,634 (GRCm39) probably null Het
Slc2a13 T A 15: 91,234,335 (GRCm39) probably null Het
Slc30a8 A T 15: 52,169,955 (GRCm39) N61Y possibly damaging Het
Slitrk6 A T 14: 110,988,868 (GRCm39) S280T possibly damaging Het
Smad2 G A 18: 76,435,501 (GRCm39) A365T probably benign Het
Tcp10b C T 17: 13,299,047 (GRCm39) P367S probably damaging Het
Tdp1 A G 12: 99,857,929 (GRCm39) N163D probably benign Het
Thbs1 A G 2: 117,948,808 (GRCm39) D488G possibly damaging Het
Trappc12 C T 12: 28,796,761 (GRCm39) S257N probably damaging Het
Treml1 T C 17: 48,672,627 (GRCm39) probably benign Het
Ugt2b36 A G 5: 87,228,744 (GRCm39) V234A probably damaging Het
Vmn2r86 T G 10: 130,288,895 (GRCm39) H202P probably damaging Het
Vmn2r87 C A 10: 130,307,878 (GRCm39) V787F probably damaging Het
Wbp2nl T A 15: 82,190,619 (GRCm39) M129K probably damaging Het
Zdhhc15 T C X: 103,588,519 (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
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
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