Incidental Mutation 'IGL02687:BC051019'
ID303617
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC051019
Ensembl Gene ENSMUSG00000031022
Gene NamecDNA sequence BC051019
SynonymsICRFP703N2430Q5.5, D7H11orf16
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.141) question?
Stock #IGL02687
Quality Score
Status
Chromosome7
Chromosomal Location109712181-109723850 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 109716352 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 84 (D84G)
Ref Sequence ENSEMBL: ENSMUSP00000115006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033334] [ENSMUST00000033335] [ENSMUST00000106735] [ENSMUST00000145211]
Predicted Effect possibly damaging
Transcript: ENSMUST00000033334
AA Change: D232G

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000033334
Gene: ENSMUSG00000031022
AA Change: D232G

DomainStartEndE-ValueType
Pfam:DUF4537 85 225 1.1e-41 PFAM
low complexity region 258 284 N/A INTRINSIC
low complexity region 334 347 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000033335
Predicted Effect possibly damaging
Transcript: ENSMUST00000106735
AA Change: D232G

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102346
Gene: ENSMUSG00000031022
AA Change: D232G

DomainStartEndE-ValueType
Pfam:DUF4537 85 225 6.3e-44 PFAM
low complexity region 258 284 N/A INTRINSIC
low complexity region 334 347 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000145211
AA Change: D84G

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115006
Gene: ENSMUSG00000031022
AA Change: D84G

DomainStartEndE-ValueType
Pfam:DUF4537 24 77 8.3e-12 PFAM
low complexity region 110 136 N/A INTRINSIC
low complexity region 186 199 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147497
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,114,232 V1315A probably damaging Het
Adam2 A T 14: 66,069,190 C117S probably damaging Het
Arpp21 T A 9: 112,065,815 R792* probably null Het
Atp13a3 A G 16: 30,337,551 M938T probably damaging Het
Atp6v0a2 C T 5: 124,714,142 T545M possibly damaging Het
Bdkrb1 T A 12: 105,604,832 L219H probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cfap46 T C 7: 139,607,201 D2415G probably damaging Het
Csgalnact2 T C 6: 118,124,415 probably null Het
Cyp4a29 T C 4: 115,251,200 C374R probably damaging Het
Dgkb C A 12: 38,630,629 P776Q possibly damaging Het
Duox1 A T 2: 122,336,415 K1005M probably damaging Het
Dusp6 C A 10: 99,266,182 F343L probably damaging Het
Espl1 C T 15: 102,313,178 probably benign Het
Filip1l T C 16: 57,571,127 S455P probably benign Het
Gm7995 A G 14: 42,311,405 I81V probably damaging Het
Lingo4 T C 3: 94,402,097 L114P probably damaging Het
Mfsd6 A G 1: 52,708,675 S344P probably damaging Het
Mpc1 G A 17: 8,297,143 S162N probably benign Het
Myh11 T A 16: 14,212,618 K1143* probably null Het
Nek10 T C 14: 14,840,570 L152P probably damaging Het
Olfr598 C T 7: 103,329,400 R305* probably null Het
Olfr815 T C 10: 129,902,102 M203V probably benign Het
Olfr995 T A 2: 85,438,586 N191Y possibly damaging Het
Rab11a A G 9: 64,726,698 I119T probably damaging Het
Spata31d1d T A 13: 59,727,864 H619L possibly damaging Het
Ulk4 A T 9: 121,192,662 V661E possibly damaging Het
Vmn1r199 T C 13: 22,382,791 V85A possibly damaging Het
Other mutations in BC051019
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:BC051019 APN 7 109720676 missense probably benign 0.07
IGL02970:BC051019 APN 7 109716055 missense probably benign 0.03
R0494:BC051019 UTSW 7 109717975 missense probably benign 0.29
R0755:BC051019 UTSW 7 109716095 nonsense probably null
R1619:BC051019 UTSW 7 109718062 missense probably damaging 1.00
R1768:BC051019 UTSW 7 109723174 missense probably benign 0.04
R2001:BC051019 UTSW 7 109720551 nonsense probably null
R4059:BC051019 UTSW 7 109717995 nonsense probably null
R4790:BC051019 UTSW 7 109716346 missense probably benign 0.01
R5091:BC051019 UTSW 7 109720582 missense probably null 1.00
R7129:BC051019 UTSW 7 109720618 missense
R7507:BC051019 UTSW 7 109716268 missense possibly damaging 0.88
R7743:BC051019 UTSW 7 109716059 missense probably damaging 0.98
Z1177:BC051019 UTSW 7 109720640 missense probably benign 0.00
Posted On2015-04-16