Incidental Mutation 'IGL02012: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: 0.058) question?
Stock #IGL02012
Quality Score
Chromosomal Location36359382-36367748 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 36367440 bp
Amino Acid Change Aspartic acid to Alanine at position 21 (D21A)
Ref Sequence ENSEMBL: ENSMUSP00000093794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096089] [ENSMUST00000138796]
Predicted Effect possibly damaging
Transcript: ENSMUST00000096089
AA Change: D21A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000093794
Gene: ENSMUSG00000071561
AA Change: D21A

CY 1 97 3.19e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130244
Predicted Effect possibly damaging
Transcript: ENSMUST00000138796
AA Change: D21A

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117436
Gene: ENSMUSG00000071561
AA Change: D21A

CY 1 61 1.3e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146691
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,674,861 N1296S probably damaging Het
Adprh A T 16: 38,445,852 D309E possibly damaging Het
AF529169 T C 9: 89,601,438 I635M probably benign Het
Armc1 A T 3: 19,157,537 C40S possibly damaging Het
Cops8 T C 1: 90,612,234 V204A probably damaging Het
Dchs1 T G 7: 105,764,297 T1104P probably damaging Het
Ddi2 A T 4: 141,708,218 probably null Het
Ehbp1 G A 11: 22,101,218 P420S probably damaging Het
Eif1ad T G 19: 5,368,659 V80G probably damaging Het
Fat1 T C 8: 45,027,540 Y3004H possibly damaging Het
Fbxo11 C T 17: 88,012,651 R211Q probably benign Het
Foxf2 A G 13: 31,626,516 N146S probably damaging Het
Fsd2 A T 7: 81,549,914 N334K probably benign Het
Gm45234 C A 6: 124,746,048 probably benign Het
Itpr3 T A 17: 27,104,095 F1157I probably benign Het
Jph1 C A 1: 17,097,414 W64L probably benign Het
Lmo7 T C 14: 101,888,716 probably benign Het
Man2a1 T C 17: 64,666,899 I390T probably damaging Het
Marveld3 C T 8: 109,948,132 V351M probably damaging Het
Mycn A G 12: 12,937,103 L431P probably damaging Het
Naip5 T C 13: 100,223,339 N463S probably benign Het
Npnt A G 3: 132,908,397 C182R probably damaging Het
Obscn A G 11: 59,076,507 V3068A probably benign Het
Pggt1b A T 18: 46,262,955 S88T probably benign Het
Prx A G 7: 27,517,901 E748G probably damaging Het
Scrn3 T C 2: 73,318,429 probably null Het
Trmt10b G A 4: 45,315,045 R292H probably benign Het
Tuft1 A G 3: 94,622,155 probably benign Het
Wfdc8 T C 2: 164,603,150 probably benign Het
Other mutations in BC100530
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02026:BC100530 APN 16 36367486 missense possibly damaging 0.84
IGL02389:BC100530 APN 16 36367486 missense possibly damaging 0.84
IGL02581:BC100530 APN 16 36359498 missense probably damaging 0.97
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 On2014-05-07