Incidental Mutation 'IGL00922:BC051019'
ID27807
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: 0.186) question?
Stock #IGL00922
Quality Score
Status
Chromosome7
Chromosomal Location109712181-109723850 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 109720676 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 60 (C60F)
Ref Sequence ENSEMBL: ENSMUSP00000102346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033334] [ENSMUST00000106735] [ENSMUST00000145211]
Predicted Effect probably benign
Transcript: ENSMUST00000033334
AA Change: C60F

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000033334
Gene: ENSMUSG00000031022
AA Change: C60F

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: ENSMUST00000106735
AA Change: C60F

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000102346
Gene: ENSMUSG00000031022
AA Change: C60F

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 probably benign
Transcript: ENSMUST00000145211
SMART Domains Protein: ENSMUSP00000115006
Gene: ENSMUSG00000031022

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016L21Rik T C 5: 114,947,177 probably null Het
Atr T A 9: 95,907,345 M1518K probably damaging Het
Baiap2l1 C T 5: 144,318,967 G59D probably damaging Het
Brms1l A G 12: 55,845,326 Y135C probably benign Het
Cachd1 T A 4: 100,966,966 S535T probably benign Het
Ccdc155 T C 7: 45,185,306 E532G possibly damaging Het
Chkb C T 15: 89,422,288 probably null Het
Coa7 G T 4: 108,338,308 G145C possibly damaging Het
Cobl T A 11: 12,254,866 D605V probably damaging Het
Ddx54 T A 5: 120,623,810 probably null Het
Dnah6 A T 6: 73,033,526 probably benign Het
Dnaja2 A T 8: 85,555,237 V4E probably damaging Het
Dnajc22 T G 15: 99,101,579 L215R possibly damaging Het
Drc7 G A 8: 95,077,978 V874I probably benign Het
Foxa2 A C 2: 148,044,818 S26A possibly damaging Het
Gal A T 19: 3,411,575 V70E probably benign Het
Gjb4 T C 4: 127,351,353 Y265C probably benign Het
Hc A G 2: 34,991,668 S1423P probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Map3k6 C T 4: 133,243,044 probably benign Het
Matn1 A T 4: 130,952,974 Q454L probably benign Het
Mlxip A T 5: 123,440,065 N148I probably damaging Het
Mre11a T C 9: 14,799,588 F193L probably damaging Het
Myo1h T C 5: 114,360,485 Y881H probably damaging Het
Nphp4 C T 4: 152,537,309 probably benign Het
Olfr803 T G 10: 129,691,454 I196L probably benign Het
Ptpn13 T A 5: 103,588,088 V2151D probably damaging Het
Rnf141 T C 7: 110,833,734 probably benign Het
Rpe65 A C 3: 159,614,542 D277A probably damaging Het
Sec14l1 C T 11: 117,153,229 T521M possibly damaging Het
Slc25a30 A T 14: 75,769,598 Y153N probably damaging Het
Slc6a12 C T 6: 121,360,455 A366V probably damaging Het
Trp53bp1 T A 2: 121,208,482 T1367S probably damaging Het
Vmn2r71 T G 7: 85,618,693 S118R probably benign Het
Other mutations in BC051019
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02687:BC051019 APN 7 109716352 missense possibly damaging 0.90
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 On2013-04-17