Incidental Mutation 'D4043:1700029J07Rik'
ID250
Institutional Source Beutler Lab
Gene Symbol 1700029J07Rik
Ensembl Gene ENSMUSG00000071103
Gene NameRIKEN cDNA 1700029J07 gene
Synonyms
Accession Numbers

Genbank: NM_001033148; MGI: 1916729

Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #D4043 (G3) of strain 483
Quality Score
Status Validated
Chromosome8
Chromosomal Location45953606-45975252 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 45956403 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 293 (V293A)
Ref Sequence ENSEMBL: ENSMUSP00000096383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095323] [ENSMUST00000098786]
Predicted Effect probably damaging
Transcript: ENSMUST00000095323
AA Change: V293A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092961
Gene: ENSMUSG00000071103
AA Change: V293A

DomainStartEndE-ValueType
Pfam:DUF4586 7 297 1.2e-110 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000098786
AA Change: V293A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096383
Gene: ENSMUSG00000071103
AA Change: V293A

DomainStartEndE-ValueType
Pfam:DUF4586 8 294 6.8e-114 PFAM
Meta Mutation Damage Score 0.248 question?
Coding Region Coverage
  • 1x: 88.8%
  • 3x: 72.5%
Validation Efficiency 88% (220/249)
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110020G09Rik T A 15: 9,103,385 probably benign Homo
Adam29 A T 8: 55,872,461 C319* probably null Het
Adgrg1 T C 8: 95,005,229 probably null Homo
Ago3 A T 4: 126,351,003 V630E probably damaging Het
Armc8 G T 9: 99,483,976 N628K probably benign Het
Chd7 A G 4: 8,862,650 D2579G probably damaging Het
Duox1 G A 2: 122,344,795 C1358Y probably benign Het
Fam208a A G 14: 27,471,992 I1050V probably benign Het
Ftsj3 C A 11: 106,254,808 M66I possibly damaging Homo
Iqub C T 6: 24,505,751 E53K possibly damaging Het
Kirrel T A 3: 87,083,203 T771S probably benign Het
Lrrc66 A T 5: 73,607,526 S725T probably benign Het
Mael T C 1: 166,236,886 I104M probably benign Homo
Mkks C T 2: 136,874,610 V457I probably benign Het
Npas1 T C 7: 16,463,244 probably null Het
Ocrl T C X: 47,936,323 V359A probably benign Homo
Olfr1065 G A 2: 86,445,220 T254M probably damaging Het
Pde6b C T 5: 108,425,356 R531* probably null Het
Polr1a G A 6: 71,941,417 C653Y possibly damaging Het
Rbm26 A G 14: 105,152,540 V216A possibly damaging Het
Rin2 C A 2: 145,822,363 H52Q possibly damaging Het
Ssc5d C T 7: 4,943,983 T1112I possibly damaging Het
Sv2c C T 13: 96,088,481 V107M probably benign Het
Tulp3 G A 6: 128,324,150 S366L probably benign Het
Zfp831 T A 2: 174,645,266 V578E probably benign Homo
Other mutations in 1700029J07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:1700029J07Rik APN 8 45973605 unclassified probably benign
R0055:1700029J07Rik UTSW 8 45968161 missense probably damaging 0.99
R0055:1700029J07Rik UTSW 8 45968161 missense probably damaging 0.99
R0894:1700029J07Rik UTSW 8 45956460 missense probably damaging 1.00
R1585:1700029J07Rik UTSW 8 45956478 missense probably benign 0.19
R4513:1700029J07Rik UTSW 8 45968138 missense probably damaging 1.00
R4600:1700029J07Rik UTSW 8 45970468 missense probably damaging 0.99
R4601:1700029J07Rik UTSW 8 45970468 missense probably damaging 0.99
R4602:1700029J07Rik UTSW 8 45970468 missense probably damaging 0.99
R4603:1700029J07Rik UTSW 8 45970468 missense probably damaging 0.99
R4610:1700029J07Rik UTSW 8 45970468 missense probably damaging 0.99
R4734:1700029J07Rik UTSW 8 45970417 missense possibly damaging 0.58
R4829:1700029J07Rik UTSW 8 45967915 missense probably damaging 1.00
R5259:1700029J07Rik UTSW 8 45962336 missense probably benign 0.04
Nature of Mutation
DNA sequencing using the SOLiD technique identified a T to C transition at position 2527 of the 1700029J07Rik transcript in exon 6 of 7 total exons. Two transcripts of the 1700029J07Rik gene are displayed on Ensembl and Vega. The mutated nucleotide causes a valine to alanine substitution at amino acid 293 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The 1700029J07Rik gene encodes a 316 amino acid protein with evidence at the transcript level. The protein belongs to the UPF0602 family. These proteins have unknown function (Uniprot Q3U1D9). 
 
The S293L change is predicted to be possibly damaging by the PolyPhen program.
Posted On2010-08-09