Incidental Mutation 'R5397:Bsg'
Institutional Source Beutler Lab
Gene Symbol Bsg
Ensembl Gene ENSMUSG00000023175
Gene Namebasigin
SynonymsEMMPRIN, 5A11/Basigin, CD147, neurothelin, gp 42, HT-7
MMRRC Submission 042968-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.893) question?
Stock #R5397 (G1)
Quality Score225
Status Not validated
Chromosomal Location79704491-79711969 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 79708795 bp
Amino Acid Change Tryptophan to Arginine at position 56 (W56R)
Ref Sequence ENSEMBL: ENSMUSP00000070751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067036] [ENSMUST00000105381] [ENSMUST00000179781]
Predicted Effect probably damaging
Transcript: ENSMUST00000067036
AA Change: W56R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070751
Gene: ENSMUSG00000023175
AA Change: W56R

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
SMART Domains Protein: ENSMUSP00000101020
Gene: ENSMUSG00000023175

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
SMART Domains Protein: ENSMUSP00000136487
Gene: ENSMUSG00000023175

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 T C 14: 8,243,803 T518A probably benign Het
Acvr1b T A 15: 101,198,964 V254D probably damaging Het
Adar T C 3: 89,735,319 I169T probably benign Het
Afg3l2 G T 18: 67,421,259 L458M probably damaging Het
Arap1 A T 7: 101,384,912 Q187L possibly damaging Het
Atad5 T A 11: 80,111,493 M1037K probably damaging Het
C1qtnf3 A G 15: 10,978,541 T276A probably damaging Het
Capn2 A G 1: 182,470,706 C665R probably damaging Het
Cast A G 13: 74,720,937 S248P possibly damaging Het
Cd68 C T 11: 69,665,658 V108I probably benign Het
Cyp2d11 A T 15: 82,392,078 W131R probably damaging Het
Dhx58 A G 11: 100,703,920 V50A probably damaging Het
Fam124a A G 14: 62,606,389 S449G probably benign Het
Flnc G A 6: 29,441,161 M371I possibly damaging Het
Gad1-ps G A 10: 99,445,147 noncoding transcript Het
Gm4787 G C 12: 81,377,830 T518S probably benign Het
Gm7102 C T 19: 61,175,926 G24R unknown Het
Gpr149 A G 3: 62,530,805 S644P probably damaging Het
Gucy1b1 G A 3: 82,044,151 T274I possibly damaging Het
Kcnq5 A G 1: 21,405,856 V541A probably damaging Het
Kdm5b G A 1: 134,622,098 probably null Het
Lig4 G T 8: 9,972,644 R379S probably benign Het
Map7 G A 10: 20,273,321 R514Q unknown Het
Mertk T A 2: 128,771,464 F467I possibly damaging Het
Mettl4 A T 17: 94,727,277 Y463* probably null Het
Nme8 T C 13: 19,694,379 D70G probably damaging Het
Npat A G 9: 53,570,474 N1161D probably damaging Het
Olfr1283 T A 2: 111,368,940 C103S probably benign Het
Olfr616 T A 7: 103,564,506 I258F probably damaging Het
Olfr813 T C 10: 129,856,710 F64S probably damaging Het
Paxip1 A T 5: 27,772,004 probably benign Het
Peg10 C CTCG 6: 4,756,453 probably benign Het
Plxnc1 T C 10: 94,843,752 T923A probably benign Het
Pms1 T A 1: 53,192,120 K857* probably null Het
Ppp1r9b A G 11: 95,002,110 E260G probably damaging Het
Prpf3 A T 3: 95,853,579 S4T probably benign Het
Rdh14 T A 12: 10,394,869 V240D probably damaging Het
S100a1 A T 3: 90,512,135 M1K probably null Het
Slc2a5 G A 4: 150,139,823 probably null Het
Slc5a5 T C 8: 70,891,179 T160A probably damaging Het
Srcap T G 7: 127,553,296 probably null Het
Tcrg-V5 A C 13: 19,192,558 E42D possibly damaging Het
Tgm6 T A 2: 130,141,908 M329K possibly damaging Het
Tom1l1 G A 11: 90,661,774 A201V probably benign Het
Ttc13 T C 8: 124,675,263 T662A possibly damaging Het
Ttn T C 2: 76,725,255 T30469A probably damaging Het
Ube3a T A 7: 59,286,912 S645R probably benign Het
Vgll2 A G 10: 52,025,166 E64G probably damaging Het
Vmn1r25 A T 6: 57,979,075 C76* probably null Het
Vmn2r101 A G 17: 19,588,842 N78D probably damaging Het
Zcchc7 C A 4: 44,926,048 A28E probably damaging Het
Other mutations in Bsg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01405:Bsg APN 10 79711514 missense probably benign 0.01
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On2016-09-06