Incidental Mutation 'IGL02581:BC100530'
ID299337
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC100530
Ensembl Gene ENSMUSG00000071561
Gene NamecDNA sequence BC100530
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL02581
Quality Score
Status
Chromosome16
Chromosomal Location36359382-36367748 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36359498 bp
ZygosityHeterozygous
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

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

DomainStartEndE-ValueType
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