Incidental Mutation 'IGL02026:BC100530'
ID184145
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: 0.058) question?
Stock #IGL02026
Quality Score
Status
Chromosome16
Chromosomal Location36359382-36367748 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 36367486 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 6 (V6F)
Ref Sequence ENSEMBL: ENSMUSP00000093794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096089] [ENSMUST00000138796]
Predicted Effect possibly damaging
Transcript: ENSMUST00000096089
AA Change: V6F

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000093794
Gene: ENSMUSG00000071561
AA Change: V6F

DomainStartEndE-ValueType
CY 1 97 3.19e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130244
Predicted Effect possibly damaging
Transcript: ENSMUST00000138796
AA Change: V6F

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117436
Gene: ENSMUSG00000071561
AA Change: V6F

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 A T 14: 68,571,802 V237E possibly damaging Het
Amh T C 10: 80,805,408 L54P probably damaging Het
Aoc3 T C 11: 101,337,595 S743P probably benign Het
Arhgap23 T A 11: 97,451,581 W19R probably damaging Het
Atm C T 9: 53,442,417 probably null Het
Ccdc47 T C 11: 106,205,027 E281G probably damaging Het
Col7a1 A C 9: 108,968,029 K1650N probably damaging Het
Evi2b T C 11: 79,515,787 S321G probably damaging Het
Fancm T G 12: 65,105,734 V988G probably benign Het
Gbp2 A G 3: 142,633,480 Y431C probably damaging Het
Gclc T C 9: 77,792,060 V530A probably benign Het
Gm4985 T G X: 23,957,994 H314P probably damaging Het
Gm5885 T C 6: 133,531,328 noncoding transcript Het
Hlcs A T 16: 94,134,705 I576N probably damaging Het
Hnrnpul1 A T 7: 25,745,162 F240L probably damaging Het
Itgb6 C A 2: 60,628,066 V448F possibly damaging Het
Lama1 A G 17: 67,809,292 T2385A possibly damaging Het
Lamc2 C T 1: 153,144,736 probably benign Het
Lrrc32 C T 7: 98,499,560 R516C probably benign Het
Lrrtm3 T C 10: 64,088,452 N312S probably damaging Het
Ltbp4 G A 7: 27,327,417 R468* probably null Het
Man1a T C 10: 54,014,473 E373G probably damaging Het
Myo1h A T 5: 114,323,444 Q250L probably null Het
Myo9a T C 9: 59,905,962 V2077A probably damaging Het
Olfr114 A G 17: 37,589,407 probably benign Het
Otud5 C T X: 7,871,993 probably benign Het
Pcsk1 A G 13: 75,112,653 S332G probably benign Het
Pde8b A G 13: 95,034,361 V549A probably damaging Het
Pgap1 A T 1: 54,494,819 M645K probably benign Het
Pm20d1 A T 1: 131,801,759 R175* probably null Het
Polr2b A G 5: 77,332,252 N585S probably benign Het
Recql T A 6: 142,366,668 K41* probably null Het
Sccpdh A T 1: 179,678,069 H138L possibly damaging Het
Sec31a A T 5: 100,369,626 S951T probably benign Het
Slc44a4 A T 17: 34,921,856 probably benign Het
Tchhl1 G T 3: 93,470,555 A189S probably damaging Het
Tdrd12 G A 7: 35,504,233 probably benign Het
Trbv12-1 A G 6: 41,113,994 D100G probably damaging Het
Ttll13 T A 7: 80,260,379 S757T probably benign Het
Vipas39 T A 12: 87,251,709 probably benign Het
Vmn1r64 G A 7: 5,883,650 P298L possibly damaging Het
Vmn1r81 A G 7: 12,260,505 S59P probably damaging Het
Vsx1 A T 2: 150,688,527 V145D probably benign Het
Wdfy4 T A 14: 33,093,300 N1586I probably damaging Het
Zan T A 5: 137,405,464 probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zzef1 T A 11: 72,881,338 M1707K probably benign Het
Other mutations in BC100530
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02012:BC100530 APN 16 36367440 missense possibly damaging 0.95
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