Incidental Mutation 'IGL01407:Cd4'
ID 278418
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 # IGL01407
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,076,288 (GRCm39) D1140V probably damaging Het
Ak1 G T 2: 32,523,507 (GRCm39) probably benign Het
Ano1 A T 7: 144,190,848 (GRCm39) L411H probably benign Het
Atad2 A T 15: 57,967,921 (GRCm39) N569K probably benign Het
Bst2 C A 8: 71,989,830 (GRCm39) R81L probably damaging Het
Chrna5 C T 9: 54,911,683 (GRCm39) T57M possibly damaging Het
Cp A T 3: 20,031,369 (GRCm39) D602V possibly damaging Het
Drd2 T C 9: 49,312,115 (GRCm39) I156T probably damaging Het
Elp4 G A 2: 105,622,653 (GRCm39) R349W probably damaging Het
Eml6 G A 11: 29,705,021 (GRCm39) R1508* probably null Het
Etl4 T C 2: 20,748,667 (GRCm39) L335S probably damaging Het
Fat3 A T 9: 16,289,319 (GRCm39) I68K probably benign Het
Fyco1 G T 9: 123,657,944 (GRCm39) A744D probably damaging Het
Gm22165 G T 3: 64,012,886 (GRCm39) probably benign Het
Gse1 T C 8: 121,280,326 (GRCm39) M1T probably null Het
Hs3st5 A T 10: 36,709,404 (GRCm39) H313L probably damaging Het
Hsd17b3 T C 13: 64,210,719 (GRCm39) Y212C probably damaging Het
Hyal5 G T 6: 24,876,406 (GRCm39) S93I probably benign Het
Itgb1 T C 8: 129,449,315 (GRCm39) V578A probably benign Het
Klf12 A T 14: 100,347,294 (GRCm39) N12K possibly damaging Het
Krt40 C T 11: 99,432,045 (GRCm39) C222Y probably damaging Het
Lrrn2 T C 1: 132,864,965 (GRCm39) L10P probably damaging Het
Lrsam1 T C 2: 32,837,915 (GRCm39) Y213C probably damaging Het
Mitf C A 6: 97,994,892 (GRCm39) T277K possibly damaging Het
Ncan C T 8: 70,554,607 (GRCm39) R1070H probably benign Het
Nr4a3 A G 4: 48,083,201 (GRCm39) E578G probably benign Het
Patj A G 4: 98,301,287 (GRCm39) T191A possibly damaging Het
Pign A G 1: 105,517,027 (GRCm39) V533A probably benign Het
Smad5 G A 13: 56,883,630 (GRCm39) V339I probably benign Het
Spem2 T A 11: 69,708,065 (GRCm39) Y300F possibly damaging Het
Trank1 T G 9: 111,193,790 (GRCm39) S605A probably damaging Het
Treml4 T A 17: 48,571,877 (GRCm39) D93E possibly damaging Het
Tsc22d2 T A 3: 58,323,924 (GRCm39) V272E probably damaging Het
Vmn2r19 T A 6: 123,306,826 (GRCm39) F445I possibly damaging Het
Zfp712 T A 13: 67,190,230 (GRCm39) Q99L possibly damaging Het
Zfp719 A T 7: 43,233,611 (GRCm39) K10I probably benign 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
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
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