Incidental Mutation 'IGL01402:Cd4'
ID278368
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd4
Ensembl Gene ENSMUSG00000023274
Gene NameCD4 antigen
SynonymsL3T4, Ly-4
Accession Numbers

Genbank: NM_013488; MGI: 88335

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01402
Quality Score
Status
Chromosome6
Chromosomal Location124864692-124888221 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 124879378 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 50 (T50I)
Ref Sequence ENSEMBL: ENSMUSP00000024044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024044]
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T C 18: 6,638,653 S351P possibly damaging Het
Abca2 T C 2: 25,442,003 S1376P probably damaging Het
Ablim3 A G 18: 61,871,683 Y12H probably damaging Het
Akr1b7 A G 6: 34,421,117 R294G possibly damaging Het
Aldh3b1 A C 19: 3,921,205 V153G probably benign Het
Alk A T 17: 71,874,178 H1372Q probably damaging Het
Ano9 A C 7: 141,102,042 Y731* probably null Het
Apol11b G A 15: 77,638,019 T26M probably damaging Het
Asl T C 5: 130,019,804 E43G probably damaging Het
Cfap43 T C 19: 47,795,666 D476G probably benign Het
Cpa1 A G 6: 30,645,276 H417R possibly damaging Het
Cpeb3 T C 19: 37,088,548 D407G probably benign Het
Dcaf15 A T 8: 84,098,397 C469S probably damaging Het
Dpy19l4 C A 4: 11,273,006 probably null Het
E4f1 A T 17: 24,444,234 L699Q probably damaging Het
Eif4g2 A G 7: 111,077,027 F349S possibly damaging Het
Ermap T C 4: 119,187,158 Y147C probably damaging Het
Frk A C 10: 34,547,385 E153A probably damaging Het
Fubp3 G A 2: 31,604,721 probably null Het
Gdi2 A G 13: 3,564,611 T319A probably benign Het
Gjc3 A G 5: 137,957,858 F55S probably damaging Het
Gm10762 C T 2: 128,967,085 probably benign Het
Got1 A G 19: 43,504,609 I291T possibly damaging Het
Gpr179 C A 11: 97,338,186 G1048* probably null Het
Hectd3 G T 4: 116,996,065 R163L probably damaging Het
Hectd4 T C 5: 121,339,417 probably benign Het
Ifnb1 T C 4: 88,522,243 R178G probably benign Het
Ino80 T A 2: 119,456,718 D56V possibly damaging Het
Kctd1 T A 18: 14,969,553 Q857L probably damaging Het
Kdm5a T A 6: 120,390,679 L445* probably null Het
Lins1 G A 7: 66,713,928 V524I probably damaging Het
Lrp1 A T 10: 127,595,032 Y383N probably damaging Het
Malrd1 G A 2: 16,101,957 probably null Het
Mgam A C 6: 40,644,945 K84Q probably benign Het
Mlh3 A T 12: 85,267,929 F494L probably benign Het
Mpped1 T C 15: 83,792,213 F60S possibly damaging Het
Myo1e A G 9: 70,337,766 Y382C probably benign Het
Ncor1 C A 11: 62,340,474 V836F probably damaging Het
Nktr G A 9: 121,741,152 probably null Het
Olfr120 A G 17: 37,726,302 T93A probably benign Het
Olfr175-ps1 G A 16: 58,824,595 T38I probably damaging Het
Olfr984 A G 9: 40,101,262 I76T probably benign Het
Rnf144a T A 12: 26,327,301 Y93F probably benign Het
Rubcn G A 16: 32,827,296 T636M probably damaging Het
Scn5a A C 9: 119,486,470 L1724R probably damaging Het
Sel1l A G 12: 91,841,833 S45P possibly damaging Het
Serpina3k A G 12: 104,340,623 D38G probably benign Het
Sh3bgr A C 16: 96,206,490 K18N probably damaging Het
Slc28a2 T G 2: 122,452,057 I287M probably damaging Het
St8sia6 T C 2: 13,665,507 N214S probably damaging Het
Syt11 A G 3: 88,762,216 I123T probably benign Het
Tcerg1l A T 7: 138,259,839 I387N probably damaging Het
Tfg C A 16: 56,694,493 probably benign Het
Tgm4 A G 9: 123,051,454 K307E possibly damaging Het
Tmem177 T C 1: 119,910,061 D296G probably damaging Het
Tmem270 C T 5: 134,901,909 probably benign Het
Tnrc6b G T 15: 80,880,544 G749V possibly damaging Het
Trp63 C A 16: 25,820,385 probably benign Het
Ugt1a8 T C 1: 88,087,895 L10P probably benign Het
Vmn2r107 A T 17: 20,375,747 K854M probably damaging Het
Vmn2r45 T C 7: 8,481,468 N446S probably damaging Het
Vps13c A T 9: 67,913,204 probably null Het
Wdr91 G A 6: 34,889,063 P518L probably benign Het
Yap1 G A 9: 7,934,741 probably benign Het
Zfp282 A C 6: 47,897,836 D325A probably damaging 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
IGL01298: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
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
Posted On2015-04-16