Incidental Mutation 'IGL02581:BC100530'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC100530
Ensembl Gene ENSMUSG00000071561
Gene NamecDNA sequence BC100530
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL02581
Quality Score
Chromosomal Location36359382-36367748 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36359498 bp
Amino Acid Change Threonine to Alanine at position 86 (T86A)
Ref Sequence ENSEMBL: ENSMUSP00000093794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096089] [ENSMUST00000138796]
Predicted Effect probably damaging
Transcript: ENSMUST00000096089
AA Change: T86A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000093794
Gene: ENSMUSG00000071561
AA Change: T86A

CY 1 97 3.19e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138796
SMART Domains Protein: ENSMUSP00000117436
Gene: ENSMUSG00000071561

CY 1 61 1.3e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146691
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157716
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034H15Rik A G 1: 191,903,540 probably benign Het
Abca13 C T 11: 9,399,132 probably benign Het
Aga T C 8: 53,521,044 probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
C1rl T C 6: 124,493,154 S2P possibly damaging Het
Dgkd T C 1: 87,918,002 probably benign Het
Dnajb11 A G 16: 22,871,018 N311D probably benign Het
Flg2 A C 3: 93,219,892 Q2037P unknown Het
Glyctk T C 9: 106,157,781 T29A probably benign Het
Gtf3c1 C A 7: 125,646,515 R1672L possibly damaging Het
Hps3 A T 3: 20,003,221 probably benign Het
Kcnh3 G T 15: 99,238,171 C683F possibly damaging Het
Lmtk2 T G 5: 144,148,348 F213V probably damaging Het
Malrd1 C A 2: 16,142,312 C1988* probably null Het
Map3k11 T A 19: 5,700,806 M684K probably benign Het
Mgea5 T A 19: 45,752,191 M902L possibly damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Plekhh1 T C 12: 79,079,108 probably null Het
Rev3l C A 10: 39,821,281 N591K probably benign Het
Rrp9 T A 9: 106,483,628 N269K probably damaging Het
Sec14l4 T C 11: 4,039,941 I80T possibly damaging Het
Srpr G A 9: 35,215,032 probably null Het
Tmc8 G A 11: 117,783,888 R143H probably benign Het
Trank1 T C 9: 111,383,125 I1777T probably benign Het
Trim17 C A 11: 58,971,076 Y311* probably null Het
Vps13a C T 19: 16,655,322 A2557T probably benign Het
Vps53 T G 11: 76,102,057 N106T probably damaging Het
Other mutations in BC100530
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02012:BC100530 APN 16 36367440 missense possibly damaging 0.95
IGL02026:BC100530 APN 16 36367486 missense possibly damaging 0.84
IGL02389:BC100530 APN 16 36367486 missense possibly damaging 0.84
IGL02754:BC100530 APN 16 36359537 missense probably benign 0.01
R1378:BC100530 UTSW 16 36359567 missense probably benign 0.01
R1541:BC100530 UTSW 16 36367501 start codon destroyed probably damaging 1.00
R2849:BC100530 UTSW 16 36367452 missense probably damaging 0.99
R7205:BC100530 UTSW 16 36367447 missense probably benign 0.13
R7349:BC100530 UTSW 16 36364312 missense probably damaging 1.00
R7592:BC100530 UTSW 16 36367500 start codon destroyed probably null 0.86
Posted On2015-04-16