Incidental Mutation 'IGL01912:Bsg'
ID179844
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 #IGL01912
Quality Score
Status
Chromosome10
Chromosomal Location79704491-79711969 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 79710140 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Tryptophan at position 103 (G103W)
Ref Sequence ENSEMBL: ENSMUSP00000136487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067036] [ENSMUST00000105381] [ENSMUST00000179781]
Predicted Effect probably null
Transcript: ENSMUST00000067036
AA Change: G219W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070751
Gene: ENSMUSG00000023175
AA Change: G219W

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 null
Transcript: ENSMUST00000105381
AA Change: G48W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101020
Gene: ENSMUSG00000023175
AA Change: G48W

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 null
Transcript: ENSMUST00000178383
AA Change: G85W
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179201
Predicted Effect probably null
Transcript: ENSMUST00000179781
AA Change: G103W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136487
Gene: ENSMUSG00000023175
AA Change: G103W

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A T 7: 46,120,510 D860E probably damaging Het
Actl11 C A 9: 107,929,645 P389Q probably damaging Het
Camk2d T A 3: 126,810,632 probably null Het
Clcn7 T C 17: 25,153,009 probably benign Het
Dctd C T 8: 48,111,662 probably benign Het
Dpy19l1 C T 9: 24,485,069 R117Q probably damaging Het
Esyt2 T C 12: 116,339,609 I289T probably damaging Het
Exoc6b A C 6: 84,625,174 C753G probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm3633 T C 14: 42,640,786 probably benign Het
Hrh3 A T 2: 180,101,376 V153D probably damaging Het
Krt77 T A 15: 101,863,851 probably benign Het
Nat3 T A 8: 67,547,746 C92* probably null Het
Nckap1l T A 15: 103,474,146 L525M probably benign Het
Nrp2 T A 1: 62,771,737 C646S probably damaging Het
Olfr512 T C 7: 108,714,258 Y290H possibly damaging Het
Olfr659 T C 7: 104,671,233 I177T possibly damaging Het
Olfr698 T A 7: 106,752,992 Y132F probably damaging Het
Orc1 T C 4: 108,590,744 Y63H probably damaging Het
Otud4 T C 8: 79,673,837 V1059A probably benign Het
Ptprm A G 17: 67,046,118 V235A probably benign Het
Rab3ip G T 10: 116,907,092 Q443K probably benign Het
Tnc C A 4: 64,008,740 D850Y probably damaging Het
Ubxn2b T A 4: 6,203,767 probably null Het
Vmn1r233 T A 17: 20,994,205 Y161F probably benign Het
Vmn1r54 T C 6: 90,269,460 S119P probably damaging Het
Other mutations in Bsg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01405:Bsg APN 10 79711514 missense probably benign 0.01
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 On2014-05-07