Incidental Mutation 'IGL01393:4930474N05Rik'
ID79275
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930474N05Rik
Ensembl Gene ENSMUSG00000096405
Gene NameRIKEN cDNA 4930474N05 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL01393
Quality Score
Status
Chromosome14
Chromosomal Location36094917-36100114 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 36096422 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 126 (V126I)
Ref Sequence ENSEMBL: ENSMUSP00000153709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000177985] [ENSMUST00000186722] [ENSMUST00000226305]
Predicted Effect probably benign
Transcript: ENSMUST00000177985
SMART Domains Protein: ENSMUSP00000136756
Gene: ENSMUSG00000096405

DomainStartEndE-ValueType
RasGEFN 65 184 3.19e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186722
Predicted Effect possibly damaging
Transcript: ENSMUST00000226305
AA Change: V126I

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630073D07Rik G T 6: 132,626,614 Q60K unknown Het
Alpk2 A G 18: 65,307,708 S205P possibly damaging Het
Ang4 T A 14: 51,764,213 I93L probably benign Het
Arpin A G 7: 79,931,840 V44A possibly damaging Het
Atxn3 A T 12: 101,933,047 C263* probably null Het
C530008M17Rik T C 5: 76,858,971 S1060P unknown Het
Cd209f T C 8: 4,103,154 N260S probably damaging Het
Cdh20 A G 1: 104,934,244 R50G probably benign Het
Csmd3 C T 15: 48,457,599 V272I possibly damaging Het
Dst A T 1: 34,167,625 Y1136F possibly damaging Het
Fam20c A G 5: 138,807,271 Y420C probably damaging Het
Fancd2 T A 6: 113,577,360 probably benign Het
Fat2 T C 11: 55,269,309 D3326G probably benign Het
Filip1l A G 16: 57,572,223 N820S probably damaging Het
Gm26566 G A 4: 88,722,344 probably benign Het
Gm4792 A G 10: 94,298,442 L22P unknown Het
Gpat2 A G 2: 127,432,651 E386G probably damaging Het
Grm3 T C 5: 9,589,856 D63G probably benign Het
Hdc A G 2: 126,594,661 V430A probably benign Het
Hnf4a T C 2: 163,551,572 probably benign Het
Il2ra A G 2: 11,683,054 D215G probably damaging Het
Kctd3 T C 1: 189,000,290 I74V probably benign Het
Kctd5 A T 17: 24,059,318 probably null Het
Lrsam1 A T 2: 32,955,173 probably benign Het
Mblac1 A G 5: 138,194,774 N126S possibly damaging Het
Mmrn1 T A 6: 60,960,708 probably benign Het
Mpp3 A T 11: 102,025,478 L16Q probably damaging Het
Mrgprb1 C A 7: 48,448,006 A53S possibly damaging Het
Nbea C A 3: 56,005,308 M1019I probably benign Het
Nlrp5 A G 7: 23,404,174 K22R probably null Het
Olfr1298 A G 2: 111,645,256 V247A probably damaging Het
Olfr350 G A 2: 36,850,541 R165Q probably benign Het
Olfr700 C T 7: 106,806,435 G9E probably benign Het
Pard6b T A 2: 168,087,378 S35T probably benign Het
Peli1 T C 11: 21,147,400 V215A probably benign Het
Pkp4 A T 2: 59,347,925 D1003V probably damaging Het
Pot1a G A 6: 25,744,631 R625* probably null Het
Ppp1r16a T C 15: 76,694,544 S483P probably benign Het
Prpf8 C A 11: 75,494,295 A794D possibly damaging Het
Prrg3 T C X: 71,967,517 V210A probably benign Het
Rev1 A G 1: 38,092,063 V168A probably damaging Het
Sez6l G T 5: 112,438,395 probably benign Het
Spag17 A G 3: 100,027,610 T711A possibly damaging Het
Spice1 A G 16: 44,366,630 I163M probably benign Het
Tex13c1 C T X: 43,591,356 A66V probably damaging Het
Tmem132d A T 5: 127,784,638 S806R probably benign Het
Tnc A G 4: 64,014,054 probably benign Het
Tpbg T A 9: 85,844,092 V38E unknown Het
Unc13c T A 9: 73,540,270 I1883F probably benign Het
Vmn2r61 A C 7: 42,266,834 Q290H probably benign Het
Vps39 A G 2: 120,350,238 probably benign Het
Zfp369 T C 13: 65,294,474 V294A possibly damaging Het
Zfp821 T A 8: 109,709,478 probably benign Het
Zfp941 C T 7: 140,811,928 G506E probably damaging Het
Other mutations in 4930474N05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01694:4930474N05Rik APN 14 36096702 makesense probably null
IGL02821:4930474N05Rik APN 14 36096516 missense probably benign 0.19
R0071:4930474N05Rik UTSW 14 36090789 unclassified probably benign
R0537:4930474N05Rik UTSW 14 36096700 missense probably benign 0.07
R0960:4930474N05Rik UTSW 14 36096410 missense probably benign 0.01
R1919:4930474N05Rik UTSW 14 36095457 missense possibly damaging 0.48
R2338:4930474N05Rik UTSW 14 36095152 missense probably benign
R3837:4930474N05Rik UTSW 14 36095478 missense probably benign 0.03
R4192:4930474N05Rik UTSW 14 36096579 missense possibly damaging 0.94
R4193:4930474N05Rik UTSW 14 36096579 missense possibly damaging 0.94
R4526:4930474N05Rik UTSW 14 36096578 missense probably damaging 1.00
R7007:4930474N05Rik UTSW 14 36095164 missense probably benign 0.18
R7302:4930474N05Rik UTSW 14 36095349 missense probably benign 0.00
Posted On2013-11-05