Incidental Mutation 'IGL02012:BC100530'
ID183379
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: 0.055) question?
Stock #IGL02012
Quality Score
Status
Chromosome16
Chromosomal Location36359382-36367748 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 36367440 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Posted On2014-05-07