Incidental Mutation 'IGL01943:Bcam'
ID180936
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcam
Ensembl Gene ENSMUSG00000002980
Gene Namebasal cell adhesion molecule
Synonyms1200005K12Rik, Lu, B-CAM
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01943
Quality Score
Status
Chromosome7
Chromosomal Location19756131-19771016 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 19765498 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 200 (R200H)
Ref Sequence ENSEMBL: ENSMUSP00000003061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003061] [ENSMUST00000133427] [ENSMUST00000155244]
Predicted Effect probably damaging
Transcript: ENSMUST00000003061
AA Change: R200H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003061
Gene: ENSMUSG00000002980
AA Change: R200H

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
IG 32 137 3.1e-9 SMART
IG_like 174 254 1.89e1 SMART
IGc2 275 337 2.58e-6 SMART
IGc2 369 425 2.16e-8 SMART
IG_like 458 523 7.29e-2 SMART
transmembrane domain 541 563 N/A INTRINSIC
low complexity region 601 619 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133271
Predicted Effect probably benign
Transcript: ENSMUST00000133427
Predicted Effect probably benign
Transcript: ENSMUST00000155244
SMART Domains Protein: ENSMUSP00000121145
Gene: ENSMUSG00000002980

DomainStartEndE-ValueType
IG 32 137 3.1e-9 SMART
Pfam:C2-set_2 143 193 4.3e-12 PFAM
Pfam:Ig_2 145 192 1e-2 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208280
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 Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: A gene trap insertion into an intron of this gene results in no obvious phenotype. Mice homozygous for a null allele exhibit glomeruli abnormalities and increased thickness and disorganization of intestinal smooth muscle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a A G 17: 35,096,483 K169E probably benign Het
Ago4 A G 4: 126,517,195 V167A probably damaging Het
AI314180 A G 4: 58,849,937 F429L possibly damaging Het
Cblb G A 16: 52,139,633 probably null Het
Cdc37 T C 9: 21,143,113 E72G probably benign Het
Chek2 T A 5: 110,841,227 probably benign Het
Col6a1 A T 10: 76,719,123 probably null Het
Col7a1 A G 9: 108,984,016 probably null Het
Fmo3 C T 1: 162,967,006 R165H probably benign Het
Gm2663 C T 6: 40,996,076 G199D probably damaging Het
Gm6904 A T 14: 59,251,162 V62E probably damaging Het
Gm8108 T C 14: 4,127,217 S134P probably damaging Het
Kif1b A T 4: 149,214,905 probably null Het
Krt76 T A 15: 101,889,045 D293V probably null Het
Lifr T A 15: 7,188,149 C853S probably damaging Het
Muc5b A T 7: 141,861,497 I2727F possibly damaging Het
Myo7a T C 7: 98,065,647 K1606R possibly damaging Het
Noxred1 G T 12: 87,223,181 Q259K probably benign Het
Obox3 C T 7: 15,626,852 E121K probably benign Het
Olfr125 G A 17: 37,835,053 R18H probably benign Het
Olfr1388 T A 11: 49,444,188 C112* probably null Het
Olfr1449 T C 19: 12,935,674 L312S probably benign Het
Olfr348 T C 2: 36,787,083 I186T probably benign Het
Pkd2l2 T C 18: 34,417,036 F245L probably damaging Het
Pla2g6 T C 15: 79,313,116 Q86R probably null Het
Polq T A 16: 37,061,443 I1044K possibly damaging Het
Pomgnt2 G T 9: 121,982,470 T415N probably benign Het
Pprc1 T A 19: 46,064,544 probably benign Het
Prol1 T A 5: 88,327,961 M70K probably benign Het
Ptpn22 T A 3: 103,886,336 V601E probably benign Het
Slc16a3 T C 11: 120,956,883 probably null Het
Slco1b2 A G 6: 141,676,286 D489G possibly damaging Het
Sphk2 T C 7: 45,710,724 probably benign Het
Stat4 C T 1: 52,096,855 T441I possibly damaging Het
Tle1 A T 4: 72,122,402 V647E probably damaging Het
Tnrc6b C A 15: 80,927,695 Y814* probably null Het
Tubgcp3 A G 8: 12,654,301 F256S probably damaging Het
Uqcrb A T 13: 66,902,763 probably null Het
Vmn1r200 A T 13: 22,395,927 E300V possibly damaging Het
Zfp324 C T 7: 12,968,786 probably benign Het
Zxdc T C 6: 90,372,538 probably benign Het
Other mutations in Bcam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Bcam APN 7 19756799 missense probably benign 0.02
IGL01433:Bcam APN 7 19760182 missense possibly damaging 0.75
IGL01712:Bcam APN 7 19758767 missense probably damaging 0.99
IGL01946:Bcam APN 7 19760117 nonsense probably null
IGL02281:Bcam APN 7 19758691 missense probably damaging 1.00
IGL02714:Bcam APN 7 19758807 splice site probably benign
IGL02837:Bcam UTSW 7 19764186 missense probably damaging 1.00
PIT4514001:Bcam UTSW 7 19764066 missense probably benign 0.06
R0063:Bcam UTSW 7 19766848 missense probably benign 0.21
R0063:Bcam UTSW 7 19766848 missense probably benign 0.21
R1500:Bcam UTSW 7 19758964 missense possibly damaging 0.75
R1575:Bcam UTSW 7 19760382 missense possibly damaging 0.87
R1585:Bcam UTSW 7 19760186 missense probably damaging 1.00
R1768:Bcam UTSW 7 19765618 missense probably null 1.00
R1813:Bcam UTSW 7 19766715 missense probably damaging 1.00
R1896:Bcam UTSW 7 19766715 missense probably damaging 1.00
R2016:Bcam UTSW 7 19760349 missense probably benign 0.38
R2117:Bcam UTSW 7 19758427 missense possibly damaging 0.71
R3713:Bcam UTSW 7 19764193 missense probably benign 0.12
R3917:Bcam UTSW 7 19765450 missense probably damaging 1.00
R4596:Bcam UTSW 7 19764157 missense probably damaging 0.97
R4866:Bcam UTSW 7 19765472 missense probably benign 0.00
R4874:Bcam UTSW 7 19769322 intron probably benign
R5054:Bcam UTSW 7 19756860 intron probably benign
R5062:Bcam UTSW 7 19760101 missense possibly damaging 0.62
R6783:Bcam UTSW 7 19766881 missense probably damaging 1.00
R6853:Bcam UTSW 7 19760406 missense probably damaging 1.00
R7016:Bcam UTSW 7 19758443 nonsense probably null
R7174:Bcam UTSW 7 19765451 missense probably damaging 1.00
R7237:Bcam UTSW 7 19769307 intron probably null
R7733:Bcam UTSW 7 19760388 missense probably benign 0.00
Posted On2014-05-07