Incidental Mutation 'IGL02970:BC051019'
ID365769
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: 0.161) question?
Stock #IGL02970
Quality Score
Status
Chromosome7
Chromosomal Location109712181-109723850 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 109716055 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 331 (N331I)
Ref Sequence ENSEMBL: ENSMUSP00000102346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033334] [ENSMUST00000033335] [ENSMUST00000106735] [ENSMUST00000145211]
Predicted Effect probably benign
Transcript: ENSMUST00000033334
AA Change: N331I

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000033334
Gene: ENSMUSG00000031022
AA Change: N331I

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 probably benign
Transcript: ENSMUST00000106735
AA Change: N331I

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000102346
Gene: ENSMUSG00000031022
AA Change: N331I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147497
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik C T 1: 53,187,589 G5S probably damaging Het
A2ml1 A T 6: 128,569,979 F396I probably damaging Het
Crocc G A 4: 141,030,246 S912L possibly damaging Het
Dcaf4 A G 12: 83,529,215 D46G probably damaging Het
Dido1 C T 2: 180,689,415 R80Q probably damaging Het
Dnase2b A G 3: 146,582,506 V278A probably damaging Het
Drosha C T 15: 12,913,956 L1106F probably damaging Het
Dsc3 C A 18: 19,968,260 W692L probably damaging Het
F2 T A 2: 91,625,551 Y579F possibly damaging Het
Fam126b T C 1: 58,539,617 E258G probably damaging Het
Fam43a C T 16: 30,601,104 R169C probably damaging Het
Gm9772 A G 17: 22,006,559 F120S probably damaging Het
Gsdma3 T C 11: 98,632,993 S251P probably benign Het
Itgam G A 7: 128,086,043 E443K probably benign Het
Kif18a T C 2: 109,287,888 V16A probably damaging Het
Lrrn3 T G 12: 41,452,360 S653R probably benign Het
Map1b A T 13: 99,430,734 Y1826* probably null Het
Mbnl1 T C 3: 60,613,423 F139S probably damaging Het
Micu3 T C 8: 40,382,130 Y509H possibly damaging Het
Ncmap T C 4: 135,377,018 T17A probably damaging Het
Oas1h T A 5: 120,861,635 M61K possibly damaging Het
Otog T A 7: 46,295,867 W2183R probably benign Het
Pcdh15 T C 10: 74,290,962 probably benign Het
Plekho1 C T 3: 95,990,902 V150I probably damaging Het
Ppargc1b A G 18: 61,298,766 S1004P probably damaging Het
Prf1 T C 10: 61,300,178 S78P probably benign Het
Prss12 A G 3: 123,482,762 S347G probably benign Het
Rai1 T C 11: 60,185,733 S208P probably damaging Het
Sgms1 A G 19: 32,159,765 Y134H probably damaging Het
Sult2a4 A G 7: 13,909,906 probably benign Het
T C T 17: 8,435,385 A134V probably damaging Het
Thoc5 A G 11: 4,904,201 T187A probably damaging Het
Ticrr A G 7: 79,695,171 S1595G probably benign Het
Tiprl A G 1: 165,236,746 S30P probably damaging Het
Ttl T C 2: 129,076,070 S151P probably damaging Het
Ttn T A 2: 76,752,990 T22520S probably damaging Het
Usp54 G A 14: 20,577,472 S420L probably damaging Het
Vmn1r62 T A 7: 5,675,568 Y83N possibly damaging Het
Other mutations in BC051019
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:BC051019 APN 7 109720676 missense probably benign 0.07
IGL02687:BC051019 APN 7 109716352 missense possibly damaging 0.90
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 On2015-12-18