Incidental Mutation 'IGL01298:Cd4'
ID 278260
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd4
Ensembl Gene ENSMUSG00000023274
Gene Name CD4 antigen
Synonyms L3T4, Ly-4
Accession Numbers

Genbank: NM_013488; MGI: 88335
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01298
Quality Score
Status
Chromosome 6
Chromosomal Location 124864692-124888221 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 124879378 bp (GRCm38)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora2a G T 10: 75,333,492 W263C probably damaging Het
Agtpbp1 G A 13: 59,504,226 H424Y possibly damaging Het
Angpt2 T G 8: 18,710,528 N186T probably benign Het
Ank2 A G 3: 126,959,720 V304A possibly damaging Het
Atg3 T C 16: 45,171,673 M88T possibly damaging Het
Baz1a G T 12: 54,954,809 P142Q probably damaging Het
Btbd1 G T 7: 81,794,307 probably null Het
Cacnb3 T C 15: 98,639,853 Y70H probably damaging Het
Cyp7a1 A T 4: 6,275,517 W19R probably damaging Het
Dock10 T A 1: 80,531,245 I1610F probably damaging Het
Gm11444 C A 11: 85,848,094 D58Y unknown Het
Gm7168 A T 17: 13,949,858 T496S probably benign Het
Gpc5 A G 14: 115,399,188 S428G probably benign Het
Haus8 T C 8: 71,253,113 E309G probably damaging Het
Ice1 A G 13: 70,604,904 L1021P possibly damaging Het
Krtap14 A T 16: 88,825,727 H121Q probably benign Het
Nwd1 T C 8: 72,662,331 V170A probably benign Het
Olfr338 T A 2: 36,377,448 M224K probably benign Het
Olfr803 T C 10: 129,692,029 Y4C probably damaging Het
Olfr938 G A 9: 39,078,724 T7I possibly damaging Het
Pfpl T C 19: 12,428,673 M96T possibly damaging Het
Pramel5 A G 4: 144,271,162 probably benign Het
Proc T C 18: 32,123,552 N354S probably benign Het
Prss40 T G 1: 34,560,766 I47L probably benign Het
Tmprss7 T C 16: 45,664,175 R541G probably benign Het
Togaram2 T C 17: 71,716,513 V788A possibly damaging Het
Trbv19 T C 6: 41,178,904 Y70H probably damaging Het
Ttk C T 9: 83,865,142 S678L probably benign Het
Vmn2r85 T C 10: 130,418,821 T665A probably benign 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
IGL01299: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
R9187:Cd4 UTSW 6 124867688 missense probably damaging 0.99
Posted On 2015-04-16