Incidental Mutation 'IGL02703:Cd37'
ID304199
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd37
Ensembl Gene ENSMUSG00000030798
Gene NameCD37 antigen
SynonymsTspan26
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02703
Quality Score
Status
Chromosome7
Chromosomal Location45233632-45239115 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45235525 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 186 (D186G)
Ref Sequence ENSEMBL: ENSMUSP00000147818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033060] [ENSMUST00000033063] [ENSMUST00000097216] [ENSMUST00000098461] [ENSMUST00000107801] [ENSMUST00000209343] [ENSMUST00000209478] [ENSMUST00000209779] [ENSMUST00000210078] [ENSMUST00000210226] [ENSMUST00000210372] [ENSMUST00000211373]
Predicted Effect probably benign
Transcript: ENSMUST00000033060
SMART Domains Protein: ENSMUSP00000033060
Gene: ENSMUSG00000030796

DomainStartEndE-ValueType
TEA 36 107 4.84e-52 SMART
low complexity region 201 217 N/A INTRINSIC
PDB:3L15|B 218 445 1e-143 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000033063
AA Change: D211G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000033063
Gene: ENSMUSG00000030798
AA Change: D211G

DomainStartEndE-ValueType
Pfam:Tetraspannin 31 292 9.5e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097216
SMART Domains Protein: ENSMUSP00000103430
Gene: ENSMUSG00000030796

DomainStartEndE-ValueType
low complexity region 11 38 N/A INTRINSIC
Pfam:TEA 40 402 1.8e-137 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098461
AA Change: D189G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000096061
Gene: ENSMUSG00000030798
AA Change: D189G

DomainStartEndE-ValueType
Pfam:Tetraspannin 10 270 3.5e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107801
SMART Domains Protein: ENSMUSP00000103431
Gene: ENSMUSG00000030796

DomainStartEndE-ValueType
TEA 36 107 4.84e-52 SMART
low complexity region 201 217 N/A INTRINSIC
PDB:3L15|B 218 445 1e-143 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209222
Predicted Effect probably benign
Transcript: ENSMUST00000209343
Predicted Effect probably benign
Transcript: ENSMUST00000209478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209677
Predicted Effect probably benign
Transcript: ENSMUST00000209779
AA Change: D189G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210000
Predicted Effect probably benign
Transcript: ENSMUST00000210078
AA Change: D186G

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000210226
Predicted Effect probably benign
Transcript: ENSMUST00000210372
Predicted Effect probably benign
Transcript: ENSMUST00000211373
AA Change: D189G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It may play a role in T-cell-B-cell interactions. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in reduced levels of IgG1 immunoglobulins and impaired antibody response to T cell dependent antigens. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 A T 3: 37,064,241 Q60L probably damaging Het
AI593442 A C 9: 52,678,118 L53R probably damaging Het
Bmp2 T G 2: 133,561,404 S292A probably benign Het
Cenpf T C 1: 189,659,758 I626V probably benign Het
Faim T A 9: 98,992,201 S49T probably benign Het
Glrb T G 3: 80,850,993 E371A probably benign Het
Kcne2 T C 16: 92,296,950 S122P possibly damaging Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Olfr1047 T A 2: 86,228,979 probably benign Het
Olfr1420 A G 19: 11,896,242 T74A possibly damaging Het
Olfr453 T G 6: 42,744,076 I13S possibly damaging Het
Pex1 C A 5: 3,615,120 H573Q probably benign Het
Plxna1 A G 6: 89,356,943 S235P probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Slc41a2 T C 10: 83,254,847 K491R probably damaging Het
Sugct T G 13: 17,452,540 T243P possibly damaging Het
Tnfaip3 G T 10: 19,007,032 D212E probably damaging Het
Trim68 A G 7: 102,684,079 V132A probably damaging Het
Other mutations in Cd37
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01868:Cd37 APN 7 45236179 missense probably benign 0.01
Blocker UTSW 7 45237174 missense probably damaging 0.98
R4888:Cd37 UTSW 7 45233935 missense probably damaging 0.99
R6197:Cd37 UTSW 7 45237174 missense probably damaging 0.98
R7048:Cd37 UTSW 7 45238464 unclassified probably benign
R8140:Cd37 UTSW 7 45238535 missense probably damaging 1.00
Posted On2015-04-16