Incidental Mutation 'IGL02704:Bivm'
ID 304272
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bivm
Ensembl Gene ENSMUSG00000041684
Gene Name basic, immunoglobulin-like variable motif containing
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # IGL02704
Quality Score
Status
Chromosome 1
Chromosomal Location 44158117-44183930 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44165606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 19 (T19S)
Ref Sequence ENSEMBL: ENSMUSP00000140572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035991] [ENSMUST00000114709] [ENSMUST00000129068] [ENSMUST00000155917]
AlphaFold Q8CBX9
Predicted Effect probably benign
Transcript: ENSMUST00000035991
AA Change: T19S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041964
Gene: ENSMUSG00000041684
AA Change: T19S

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: T19S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110357
Gene: ENSMUSG00000041684
AA Change: T19S

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: ENSMUST00000129068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138521
Predicted Effect probably benign
Transcript: ENSMUST00000155917
AA Change: T19S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186280
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs G T 2: 93,673,271 (GRCm39) P162Q probably damaging Het
Alb A G 5: 90,616,368 (GRCm39) N291S possibly damaging Het
Ankar T C 1: 72,691,502 (GRCm39) D935G possibly damaging Het
Atp13a5 A T 16: 29,070,080 (GRCm39) C935* probably null Het
Ddah2 C A 17: 35,279,983 (GRCm39) D158E possibly damaging Het
Dnah7b C T 1: 46,181,293 (GRCm39) T1060I probably benign Het
Efhb T C 17: 53,733,297 (GRCm39) T525A probably damaging Het
Exoc3 A G 13: 74,322,263 (GRCm39) M604T probably benign Het
Frmpd1 T G 4: 45,285,082 (GRCm39) I1301S possibly damaging Het
Gm5269 T C 1: 45,929,235 (GRCm39) T2A probably benign Het
Hif3a T A 7: 16,784,686 (GRCm39) probably benign Het
Hpgds A T 6: 65,100,621 (GRCm39) L119* probably null Het
Iars1 A G 13: 49,874,576 (GRCm39) D750G probably damaging Het
Ift43 T A 12: 86,207,951 (GRCm39) D106E probably benign Het
Iqub T A 6: 24,505,909 (GRCm39) probably benign Het
Lamb1 A G 12: 31,368,466 (GRCm39) K1199E probably benign Het
Mast3 T A 8: 71,239,519 (GRCm39) I395F probably damaging Het
Megf8 T C 7: 25,059,207 (GRCm39) S2236P probably damaging Het
Met T A 6: 17,491,256 (GRCm39) V6E possibly damaging Het
Muc5ac A T 7: 141,349,000 (GRCm39) T479S possibly damaging Het
Myo7b T C 18: 32,100,014 (GRCm39) T1623A probably benign Het
Neto1 T C 18: 86,491,948 (GRCm39) L283P probably damaging Het
Onecut1 A G 9: 74,770,312 (GRCm39) N245S probably damaging Het
Or2t6 T C 14: 14,175,483 (GRCm38) I200V probably benign Het
Or4k41 A T 2: 111,279,492 (GRCm39) E2D probably benign Het
Or8b52 G A 9: 38,577,063 (GRCm39) P26S possibly damaging Het
Or8g34 T C 9: 39,373,579 (GRCm39) V284A probably damaging Het
Or8i2 T C 2: 86,852,621 (GRCm39) Q89R probably benign Het
Pkd1l1 A G 11: 8,784,910 (GRCm39) V1958A probably benign Het
Plb1 C T 5: 32,511,011 (GRCm39) A1292V probably benign Het
Plekha5 A G 6: 140,489,592 (GRCm39) E223G probably damaging Het
Pou1f1 A T 16: 65,326,685 (GRCm39) Q121L possibly damaging Het
Rbm25 G A 12: 83,689,500 (GRCm39) G47D probably damaging Het
Rif1 T A 2: 51,983,588 (GRCm39) M577K probably damaging Het
Scn8a A G 15: 100,905,943 (GRCm39) E712G possibly damaging Het
Snx24 A G 18: 53,460,509 (GRCm39) N29S probably benign Het
Tmem217 A T 17: 29,745,532 (GRCm39) V66D probably damaging Het
Ttn T G 2: 76,597,985 (GRCm39) N19643H probably damaging Het
Uimc1 T C 13: 55,178,772 (GRCm39) T646A probably benign Het
Other mutations in Bivm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:Bivm APN 1 44,168,451 (GRCm39) missense probably damaging 1.00
IGL01384:Bivm APN 1 44,165,907 (GRCm39) missense possibly damaging 0.86
IGL01552:Bivm APN 1 44,165,933 (GRCm39) missense probably benign 0.40
IGL01736:Bivm APN 1 44,180,973 (GRCm39) missense probably damaging 1.00
IGL02332:Bivm APN 1 44,167,880 (GRCm39) unclassified probably benign
IGL02859:Bivm APN 1 44,176,159 (GRCm39) nonsense probably null
IGL02939:Bivm APN 1 44,182,120 (GRCm39) missense probably benign 0.03
IGL03265:Bivm APN 1 44,181,005 (GRCm39) missense probably damaging 1.00
R0456:Bivm UTSW 1 44,165,969 (GRCm39) missense probably damaging 1.00
R1172:Bivm UTSW 1 44,165,942 (GRCm39) missense probably benign 0.04
R1173:Bivm UTSW 1 44,165,942 (GRCm39) missense probably benign 0.04
R1174:Bivm UTSW 1 44,165,942 (GRCm39) missense probably benign 0.04
R1177:Bivm UTSW 1 44,182,123 (GRCm39) missense probably benign 0.28
R1350:Bivm UTSW 1 44,165,863 (GRCm39) missense possibly damaging 0.88
R1611:Bivm UTSW 1 44,165,907 (GRCm39) missense possibly damaging 0.92
R2518:Bivm UTSW 1 44,168,775 (GRCm39) missense probably damaging 0.96
R3735:Bivm UTSW 1 44,165,594 (GRCm39) missense probably benign 0.07
R4290:Bivm UTSW 1 44,177,793 (GRCm39) missense probably damaging 1.00
R4292:Bivm UTSW 1 44,177,793 (GRCm39) missense probably damaging 1.00
R4293:Bivm UTSW 1 44,177,793 (GRCm39) missense probably damaging 1.00
R4294:Bivm UTSW 1 44,177,793 (GRCm39) missense probably damaging 1.00
R4849:Bivm UTSW 1 44,182,033 (GRCm39) missense possibly damaging 0.70
R5204:Bivm UTSW 1 44,177,738 (GRCm39) missense probably damaging 0.96
R5912:Bivm UTSW 1 44,165,573 (GRCm39) nonsense probably null
R6045:Bivm UTSW 1 44,158,233 (GRCm39) start gained probably benign
R6216:Bivm UTSW 1 44,166,028 (GRCm39) critical splice donor site probably null
R6836:Bivm UTSW 1 44,182,296 (GRCm39) missense possibly damaging 0.88
R7120:Bivm UTSW 1 44,165,606 (GRCm39) missense probably benign
R7817:Bivm UTSW 1 44,165,561 (GRCm39) missense probably benign 0.01
R8893:Bivm UTSW 1 44,158,439 (GRCm39) intron probably benign
R9110:Bivm UTSW 1 44,168,526 (GRCm39) critical splice donor site probably null
R9128:Bivm UTSW 1 44,167,949 (GRCm39) missense probably null 1.00
R9511:Bivm UTSW 1 44,182,250 (GRCm39) missense possibly damaging 0.88
Posted On 2015-04-16