Incidental Mutation 'IGL02939:Bivm'
ID365933
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bivm
Ensembl Gene ENSMUSG00000041684
Gene Namebasic, immunoglobulin-like variable motif containing
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.117) question?
Stock #IGL02939
Quality Score
Status
Chromosome1
Chromosomal Location44118957-44144770 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 44142960 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Asparagine at position 443 (H443N)
Ref Sequence ENSEMBL: ENSMUSP00000110357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027214] [ENSMUST00000035991] [ENSMUST00000114709]
Predicted Effect probably benign
Transcript: ENSMUST00000027214
SMART Domains Protein: ENSMUSP00000027214
Gene: ENSMUSG00000026048

DomainStartEndE-ValueType
XPGN 1 98 3.49e-50 SMART
low complexity region 104 115 N/A INTRINSIC
low complexity region 151 163 N/A INTRINSIC
low complexity region 305 326 N/A INTRINSIC
low complexity region 331 343 N/A INTRINSIC
low complexity region 641 650 N/A INTRINSIC
XPGI 776 845 1.02e-33 SMART
HhH2 847 880 2.94e-11 SMART
low complexity region 1130 1140 N/A INTRINSIC
low complexity region 1155 1169 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000035991
AA Change: H443N

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000041964
Gene: ENSMUSG00000041684
AA Change: H443N

DomainStartEndE-ValueType
low complexity region 117 129 N/A INTRINSIC
low complexity region 162 174 N/A INTRINSIC
Blast:XPGN 456 501 3e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000114709
AA Change: H443N

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000110357
Gene: ENSMUSG00000041684
AA Change: H443N

DomainStartEndE-ValueType
low complexity region 117 129 N/A INTRINSIC
low complexity region 162 174 N/A INTRINSIC
Blast:XPGN 456 501 3e-11 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145406
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188376
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330182L06Rik T C 5: 9,461,478 Y947H probably damaging Het
Atp6ap1 A G X: 74,297,318 D47G probably benign Het
Atr T C 9: 95,865,261 F199L probably benign Het
Btnl2 A T 17: 34,361,069 H192L probably benign Het
Ccdc178 A T 18: 22,120,718 C155S probably benign Het
Celsr1 C A 15: 85,901,472 V2934L probably benign Het
Celsr3 T C 9: 108,849,453 S3294P probably damaging Het
Ddx10 T A 9: 53,204,279 E585V possibly damaging Het
Eps15l1 A T 8: 72,384,762 probably benign Het
Erlin1 G T 19: 44,063,052 T70K probably damaging Het
Ext2 A T 2: 93,704,619 probably null Het
Fam124a G A 14: 62,555,919 probably null Het
Fam53a T C 5: 33,607,759 D201G probably damaging Het
Fgf14 C T 14: 124,132,479 G136D possibly damaging Het
Gdi2 A T 13: 3,564,623 T323S probably benign Het
Gemin5 A T 11: 58,156,730 N339K probably damaging Het
Golga4 A C 9: 118,534,632 K233T probably damaging Het
Golga4 A G 9: 118,535,454 E286G probably benign Het
Gosr1 A G 11: 76,750,906 probably benign Het
Haus8 A G 8: 71,255,717 probably benign Het
Itgb3bp T C 4: 99,802,136 T49A probably null Het
Ldlrad4 A G 18: 68,254,514 D299G probably damaging Het
Lpo A G 11: 87,815,178 M273T possibly damaging Het
Map3k4 T A 17: 12,272,149 S132C probably damaging Het
Mycbp2 T G 14: 103,177,279 T2566P probably benign Het
Nalcn T C 14: 123,298,872 E1255G probably null Het
Nop56 A T 2: 130,278,197 K157N probably damaging Het
Olfr802 A T 10: 129,681,988 Y250* probably null Het
Olfr979 C T 9: 40,000,898 E110K probably benign Het
Pcdh15 A G 10: 74,504,816 probably benign Het
Pi4ka T C 16: 17,354,210 H557R probably damaging Het
Plekha4 C T 7: 45,532,363 Q64* probably null Het
Ppp2r3c G A 12: 55,298,407 probably benign Het
Rgmb C T 17: 15,807,493 M321I probably benign Het
Rnf31 T C 14: 55,595,674 S363P probably benign Het
Sap18b T A 8: 95,825,701 M113K probably benign Het
Scara3 T A 14: 65,931,656 M171L probably benign Het
Slc9a2 T G 1: 40,742,703 M364R probably damaging Het
Sorcs1 C T 19: 50,677,930 W180* probably null Het
Stat6 T A 10: 127,646,940 M10K probably benign Het
Sun1 T C 5: 139,235,488 probably benign Het
Tead2 T C 7: 45,220,434 probably benign Het
Tjp1 T G 7: 65,314,890 E844D probably damaging Het
Tmtc2 A G 10: 105,370,550 S295P probably damaging Het
Ttn G A 2: 76,782,412 R17108C probably damaging Het
Ubr1 T C 2: 120,881,183 probably null Het
Vmn2r108 T A 17: 20,471,283 H326L probably benign Het
Xdh A G 17: 73,943,845 probably null Het
Zfp385b A G 2: 77,412,059 S439P probably benign Het
Zfp597 G A 16: 3,865,941 S317L probably benign Het
Zfp638 A G 6: 83,969,232 D1081G probably damaging Het
Zfp93 C T 7: 24,275,084 H165Y possibly damaging Het
Other mutations in Bivm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:Bivm APN 1 44129291 missense probably damaging 1.00
IGL01384:Bivm APN 1 44126747 missense possibly damaging 0.86
IGL01552:Bivm APN 1 44126773 missense probably benign 0.40
IGL01736:Bivm APN 1 44141813 missense probably damaging 1.00
IGL02332:Bivm APN 1 44128720 unclassified probably benign
IGL02704:Bivm APN 1 44126446 missense probably benign
IGL02859:Bivm APN 1 44136999 nonsense probably null
IGL03265:Bivm APN 1 44141845 missense probably damaging 1.00
R0456:Bivm UTSW 1 44126809 missense probably damaging 1.00
R1172:Bivm UTSW 1 44126782 missense probably benign 0.04
R1173:Bivm UTSW 1 44126782 missense probably benign 0.04
R1174:Bivm UTSW 1 44126782 missense probably benign 0.04
R1177:Bivm UTSW 1 44142963 missense probably benign 0.28
R1350:Bivm UTSW 1 44126703 missense possibly damaging 0.88
R1611:Bivm UTSW 1 44126747 missense possibly damaging 0.92
R2518:Bivm UTSW 1 44129615 missense probably damaging 0.96
R3735:Bivm UTSW 1 44126434 missense probably benign 0.07
R4290:Bivm UTSW 1 44138633 missense probably damaging 1.00
R4292:Bivm UTSW 1 44138633 missense probably damaging 1.00
R4293:Bivm UTSW 1 44138633 missense probably damaging 1.00
R4294:Bivm UTSW 1 44138633 missense probably damaging 1.00
R4849:Bivm UTSW 1 44142873 missense possibly damaging 0.70
R5204:Bivm UTSW 1 44138578 missense probably damaging 0.96
R5912:Bivm UTSW 1 44126413 nonsense probably null
R6045:Bivm UTSW 1 44119073 start gained probably benign
R6216:Bivm UTSW 1 44126868 critical splice donor site probably null
R6836:Bivm UTSW 1 44143136 missense possibly damaging 0.88
R7120:Bivm UTSW 1 44126446 missense probably benign
R7817:Bivm UTSW 1 44126401 missense probably benign 0.01
Posted On2015-12-18