Incidental Mutation 'IGL01405:Bsg'
ID79776
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bsg
Ensembl Gene ENSMUSG00000023175
Gene Namebasigin
SynonymsEMMPRIN, 5A11/Basigin, CD147, neurothelin, gp 42, HT-7
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.898) question?
Stock #IGL01405
Quality Score
Status
Chromosome10
Chromosomal Location79704491-79711969 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 79711514 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 205 (M205K)
Ref Sequence ENSEMBL: ENSMUSP00000101020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067036] [ENSMUST00000105381] [ENSMUST00000179781]
Predicted Effect probably benign
Transcript: ENSMUST00000067036
AA Change: M376K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000070751
Gene: ENSMUSG00000023175
AA Change: M376K

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
IGc2 35 115 5.75e-4 SMART
IG 227 323 1.27e-5 SMART
transmembrane domain 327 349 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105381
AA Change: M205K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000101020
Gene: ENSMUSG00000023175
AA Change: M205K

DomainStartEndE-ValueType
Blast:IG_like 1 46 7e-12 BLAST
IG 56 152 1.27e-5 SMART
transmembrane domain 156 178 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178383
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179201
Predicted Effect probably benign
Transcript: ENSMUST00000179781
AA Change: M260K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000136487
Gene: ENSMUSG00000023175
AA Change: M260K

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Blast:IG_like 26 97 1e-24 BLAST
IG 111 207 1.27e-5 SMART
transmembrane domain 211 233 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180235
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 plasma membrane protein that is important in spermatogenesis, embryo implantation, neural network formation, and tumor progression. The encoded protein is also a member of the immunoglobulin superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most homozygous null mutants die near the time of implantation. Half of the survivors die prior to 1 month of age from interstitial pneumonia. The remaining mice are small, sterile, have retinal abnormalities, and perform poorly in behavioral tests. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 G A 17: 35,964,010 R82W probably damaging Het
Atxn7 T C 14: 14,100,105 V597A probably benign Het
Ccdc18 T C 5: 108,202,186 probably benign Het
Cdh1 T C 8: 106,649,001 V57A probably damaging Het
Ddost A G 4: 138,311,703 D378G probably damaging Het
Depdc5 A G 5: 32,937,689 E779G possibly damaging Het
Elp5 T C 11: 69,969,136 R250G probably damaging Het
Gnb1 A G 4: 155,543,188 H142R probably damaging Het
Ift172 G T 5: 31,261,852 Y1148* probably null Het
Kif5a T C 10: 127,245,990 N153S probably damaging Het
Malrd1 G A 2: 16,101,957 probably null Het
Man2a2 T A 7: 80,360,934 M770L probably benign Het
Msh2 T C 17: 87,678,235 L80P probably damaging Het
Naip5 A T 13: 100,221,945 S928T probably benign Het
Olfr855 T A 9: 19,585,205 S223T probably benign Het
Pla2g4d T C 2: 120,266,823 N765S probably benign Het
Plcb4 C T 2: 135,950,347 T330I probably damaging Het
Ppp3ca A G 3: 136,868,721 I127V probably benign Het
Rapgef5 C A 12: 117,721,380 T320K probably benign Het
Rbfa A G 18: 80,192,865 V223A probably benign Het
Rfx7 A G 9: 72,610,344 M187V probably benign Het
Ric1 T C 19: 29,567,370 probably benign Het
Slc22a16 C T 10: 40,585,195 T331M probably benign Het
Slc34a1 T C 13: 55,412,128 S303P probably damaging Het
Slfn3 T C 11: 83,214,716 V513A possibly damaging Het
Tbce A T 13: 14,003,695 I370N probably damaging Het
Zfp358 G A 8: 3,495,663 D109N probably benign Het
Zfp523 T C 17: 28,204,506 S152P probably damaging Het
Zfp961 A G 8: 71,967,934 N78S possibly damaging Het
Other mutations in Bsg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01912:Bsg APN 10 79710140 missense probably null 1.00
R0840:Bsg UTSW 10 79709685 missense probably damaging 0.98
R1665:Bsg UTSW 10 79711518 missense probably damaging 1.00
R5119:Bsg UTSW 10 79710223 intron probably benign
R5397:Bsg UTSW 10 79708795 missense probably damaging 1.00
R6208:Bsg UTSW 10 79708838 missense probably damaging 1.00
R7384:Bsg UTSW 10 79709797 missense probably damaging 0.98
R8048:Bsg UTSW 10 79709746 missense probably benign 0.00
Posted On2013-11-05