Incidental Mutation 'IGL01811:Cd1d1'
ID 154267
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd1d1
Ensembl Gene ENSMUSG00000028076
Gene Name CD1d1 antigen
Synonyms Cd1d, Cd1a, CD1.1, Ly-38
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # IGL01811
Quality Score
Status
Chromosome 3
Chromosomal Location 86903141-86906748 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86903895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 204 (I204V)
Ref Sequence ENSEMBL: ENSMUSP00000070616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029717] [ENSMUST00000063869]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029717
AA Change: I335V

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000029717
Gene: ENSMUSG00000028076
AA Change: I335V

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 possibly damaging
Transcript: ENSMUST00000063869
AA Change: I204V

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000070616
Gene: ENSMUSG00000028076
AA Change: I204V

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: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aggf1 G A 13: 95,488,080 (GRCm39) T689I probably benign Het
Ap1m2 A G 9: 21,210,600 (GRCm39) V343A probably benign Het
Ccbe1 A G 18: 66,199,798 (GRCm39) probably null Het
Cpeb3 G A 19: 37,022,008 (GRCm39) R613C probably damaging Het
Dock9 A T 14: 121,796,440 (GRCm39) F1821I probably damaging Het
Dst A T 1: 34,203,173 (GRCm39) Q694L probably damaging Het
Kansl1l A G 1: 66,762,462 (GRCm39) S802P probably damaging Het
Meltf T C 16: 31,707,803 (GRCm39) C397R probably damaging Het
Myo1d A T 11: 80,583,823 (GRCm39) V63D probably damaging Het
Or4c101 C T 2: 88,390,409 (GRCm39) L199F probably benign Het
Pycr1 T A 11: 120,532,092 (GRCm39) S225C probably benign Het
Tbc1d9 T A 8: 83,960,307 (GRCm39) C187S probably damaging Het
Tnfrsf21 A C 17: 43,348,504 (GRCm39) I39L probably benign Het
Tnn T C 1: 159,934,705 (GRCm39) D972G probably damaging Het
Other mutations in Cd1d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Cd1d1 APN 3 86,905,480 (GRCm39) missense probably damaging 0.99
IGL02371:Cd1d1 APN 3 86,906,188 (GRCm39) missense probably benign 0.40
IGL03001:Cd1d1 APN 3 86,905,468 (GRCm39) missense probably benign
R0350:Cd1d1 UTSW 3 86,904,880 (GRCm39) missense probably benign 0.11
R1771:Cd1d1 UTSW 3 86,905,972 (GRCm39) missense possibly damaging 0.85
R2407:Cd1d1 UTSW 3 86,905,489 (GRCm39) missense probably damaging 1.00
R3906:Cd1d1 UTSW 3 86,906,063 (GRCm39) missense probably damaging 1.00
R4540:Cd1d1 UTSW 3 86,904,012 (GRCm39) missense probably benign 0.21
R4976:Cd1d1 UTSW 3 86,905,958 (GRCm39) missense probably benign 0.00
R5303:Cd1d1 UTSW 3 86,905,427 (GRCm39) missense probably benign 0.22
R5786:Cd1d1 UTSW 3 86,906,095 (GRCm39) missense probably benign 0.17
R6088:Cd1d1 UTSW 3 86,906,009 (GRCm39) missense probably benign 0.07
R6273:Cd1d1 UTSW 3 86,905,564 (GRCm39) missense probably benign 0.00
R7315:Cd1d1 UTSW 3 86,905,420 (GRCm39) missense possibly damaging 0.80
R7787:Cd1d1 UTSW 3 86,904,903 (GRCm39) missense probably damaging 0.98
R8854:Cd1d1 UTSW 3 86,905,480 (GRCm39) missense probably damaging 0.99
R8957:Cd1d1 UTSW 3 86,906,140 (GRCm39) missense probably damaging 0.99
R9079:Cd1d1 UTSW 3 86,906,197 (GRCm39) missense probably benign
R9328:Cd1d1 UTSW 3 86,905,459 (GRCm39) missense possibly damaging 0.80
R9368:Cd1d1 UTSW 3 86,905,939 (GRCm39) critical splice donor site probably null
Posted On 2014-02-04