Incidental Mutation 'IGL00588:Cd1d1'
ID6852
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd1d1
Ensembl Gene ENSMUSG00000028076
Gene NameCD1d1 antigen
SynonymsCD1.1, Cd1d, Cd1a, Ly-38
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.104) question?
Stock #IGL00588
Quality Score
Status
Chromosome3
Chromosomal Location86995834-86999441 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 86998173 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 171 (D171G)
Ref Sequence ENSEMBL: ENSMUSP00000029717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029717] [ENSMUST00000063869]
Predicted Effect probably damaging
Transcript: ENSMUST00000029717
AA Change: D171G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029717
Gene: ENSMUSG00000028076
AA Change: D171G

DomainStartEndE-ValueType
Pfam:MHC_I_3 1 200 1.3e-95 PFAM
IGc1 221 291 5.35e-22 SMART
transmembrane domain 304 326 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000063869
SMART Domains Protein: ENSMUSP00000070616
Gene: ENSMUSG00000028076

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
PDB:4MQ7|A 23 73 2e-15 PDB
IGc1 90 160 5.35e-22 SMART
low complexity region 173 194 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107620
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132131
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142793
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 divergent member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygotes for targeted null mutations lack natural killer T cells, and mutant splenocytes fail to produce interleukin 4 (IL4). [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arrdc5 G A 17: 56,294,262 P288S probably damaging Het
Cd96 T C 16: 46,038,554 N530S probably benign Het
Csn1s1 A G 5: 87,667,259 I5V probably benign Het
Fam120b T A 17: 15,402,595 Y278* probably null Het
Fam160a1 G A 3: 85,672,618 T760M probably benign Het
Fam186a T C 15: 99,927,691 probably benign Het
Fam214a A G 9: 75,009,581 I487M probably damaging Het
Gimap6 T C 6: 48,702,421 K227R possibly damaging Het
Gli3 A T 13: 15,644,392 T260S possibly damaging Het
Gm12888 A T 4: 121,319,445 M53K possibly damaging Het
Klhl9 C T 4: 88,720,819 S395N probably damaging Het
Lpp T C 16: 24,845,188 M280T probably damaging Het
Ly96 A G 1: 16,706,228 probably null Het
Mamdc2 T A 19: 23,353,316 T376S possibly damaging Het
Man2b1 C A 8: 85,084,638 probably null Het
Ndufs8 G A 19: 3,911,740 R3C probably benign Het
Prox1 T C 1: 190,123,410 probably benign Het
Prrx1 T C 1: 163,261,967 N97S probably damaging Het
Rfx3 G A 19: 27,826,076 Q270* probably null Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Slc1a2 A G 2: 102,756,001 I317V probably benign Het
Smim15 T C 13: 108,047,529 L23P probably damaging Het
Tcea3 A T 4: 136,273,692 N338Y probably damaging Het
Ttn A T 2: 76,827,727 probably benign Het
Zfp61 T A 7: 24,291,095 I544F probably benign Het
Zfp954 C T 7: 7,115,367 A393T probably benign Het
Other mutations in Cd1d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01811:Cd1d1 APN 3 86996588 missense possibly damaging 0.86
IGL02371:Cd1d1 APN 3 86998881 missense probably benign 0.40
IGL03001:Cd1d1 APN 3 86998161 missense probably benign
R0350:Cd1d1 UTSW 3 86997573 missense probably benign 0.11
R1771:Cd1d1 UTSW 3 86998665 missense possibly damaging 0.85
R2407:Cd1d1 UTSW 3 86998182 missense probably damaging 1.00
R3906:Cd1d1 UTSW 3 86998756 missense probably damaging 1.00
R4540:Cd1d1 UTSW 3 86996705 missense probably benign 0.21
R4976:Cd1d1 UTSW 3 86998651 missense probably benign 0.00
R5303:Cd1d1 UTSW 3 86998120 missense probably benign 0.22
R5786:Cd1d1 UTSW 3 86998788 missense probably benign 0.17
R6088:Cd1d1 UTSW 3 86998702 missense probably benign 0.07
R6273:Cd1d1 UTSW 3 86998257 missense probably benign 0.00
R7315:Cd1d1 UTSW 3 86998113 missense possibly damaging 0.80
R7787:Cd1d1 UTSW 3 86997596 missense probably damaging 0.98
Posted On2012-04-20