Incidental Mutation 'IGL02442:1700006E09Rik'
List [record 1 of 1]
ID293478
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700006E09Rik
Ensembl Gene ENSMUSG00000010841
Gene NameRIKEN cDNA 1700006E09 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02442
Quality Score
Status
Chromosome11
Chromosomal Location101984279-101992264 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 101990826 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 116 (V116A)
Ref Sequence ENSEMBL: ENSMUSP00000010985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010985] [ENSMUST00000107172] [ENSMUST00000107173] [ENSMUST00000175972] [ENSMUST00000176722]
Predicted Effect probably benign
Transcript: ENSMUST00000010985
AA Change: V116A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000010985
Gene: ENSMUSG00000010841
AA Change: V116A

DomainStartEndE-ValueType
Pfam:KIAA1430 35 130 1.1e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107172
SMART Domains Protein: ENSMUSP00000102790
Gene: ENSMUSG00000003518

DomainStartEndE-ValueType
DSPc 29 176 8.04e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107173
SMART Domains Protein: ENSMUSP00000102791
Gene: ENSMUSG00000003518

DomainStartEndE-ValueType
DSPc 54 201 8.04e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000175972
Predicted Effect probably benign
Transcript: ENSMUST00000176722
AA Change: V65A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000134890
Gene: ENSMUSG00000010841
AA Change: V65A

DomainStartEndE-ValueType
Pfam:KIAA1430 1 80 4.8e-22 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap2 A G 11: 80,177,206 E348G probably damaging Het
Ahnak G A 19: 9,004,016 G888D probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Csde1 T C 3: 103,054,819 C649R probably benign Het
Cym A C 3: 107,214,285 D230E probably damaging Het
Dnah1 A T 14: 31,287,878 I1911N probably damaging Het
Fam60a A T 6: 148,928,507 probably null Het
Fat1 A G 8: 44,950,323 H37R probably benign Het
Ggt6 T C 11: 72,436,806 V146A possibly damaging Het
Glud1 T A 14: 34,335,438 L54* probably null Het
Grk6 A G 13: 55,458,937 probably benign Het
Gsta4 G A 9: 78,209,165 V219I probably benign Het
Gucy1a2 G A 9: 3,865,385 V620M probably damaging Het
Hspe1 T C 1: 55,089,042 probably benign Het
Icmt T C 4: 152,298,716 V76A possibly damaging Het
Ifrd1 A G 12: 40,216,317 probably benign Het
Lgals12 T C 19: 7,606,654 probably benign Het
Lypla1 T C 1: 4,832,387 probably benign Het
Map1b A T 13: 99,508,198 W66R probably damaging Het
Matn3 T A 12: 8,967,678 C443* probably null Het
Mup8 T A 4: 60,219,695 R191W probably damaging Het
Mycbp2 T C 14: 103,314,375 K140R probably benign Het
Ndfip1 C T 18: 38,447,736 S66L probably damaging Het
Neu1 A G 17: 34,934,469 I323V probably benign Het
Nup205 A T 6: 35,190,068 T341S probably benign Het
Olfr1303 G A 2: 111,813,991 T245I probably benign Het
Olfr1466 T A 19: 13,342,120 C121S probably benign Het
Olfr1469 T A 19: 13,410,987 N139K probably benign Het
Ovch2 T A 7: 107,796,548 I88F possibly damaging Het
Pkd1 T A 17: 24,565,226 S249T probably benign Het
Plekhg3 A T 12: 76,578,353 Q1324L probably benign Het
Ppara T A 15: 85,801,143 V431E probably benign Het
Prkaa1 T G 15: 5,176,888 H408Q probably damaging Het
Sap25 T A 5: 137,641,995 N108K probably benign Het
Setd5 A C 6: 113,110,380 I81L possibly damaging Het
Sri T A 5: 8,062,411 M78K probably damaging Het
Tyro3 A G 2: 119,808,868 N352S probably benign Het
Ubr5 T A 15: 38,037,901 E332V possibly damaging Het
Vmn2r19 G T 6: 123,309,662 V85F possibly damaging Het
Vmn2r53 A T 7: 12,581,729 V721D probably damaging Het
Vwa5a A G 9: 38,734,784 M483V probably benign Het
Zfp786 T A 6: 47,821,367 Q212H probably benign Het
Other mutations in 1700006E09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:1700006E09Rik APN 11 101990820 missense possibly damaging 0.75
R1802:1700006E09Rik UTSW 11 101988476 missense possibly damaging 0.56
R1937:1700006E09Rik UTSW 11 101987163 missense probably damaging 0.97
R2015:1700006E09Rik UTSW 11 101987218 missense probably damaging 1.00
R3732:1700006E09Rik UTSW 11 101988452 nonsense probably null
R3732:1700006E09Rik UTSW 11 101988452 nonsense probably null
R3733:1700006E09Rik UTSW 11 101988452 nonsense probably null
R3813:1700006E09Rik UTSW 11 101991488 missense probably benign 0.01
R5804:1700006E09Rik UTSW 11 101990814 missense probably damaging 1.00
R7351:1700006E09Rik UTSW 11 101991505 missense probably benign 0.01
R7451:1700006E09Rik UTSW 11 101991457 missense possibly damaging 0.85
R8546:1700006E09Rik UTSW 11 101990861 missense probably damaging 1.00
Posted On2015-04-16