Incidental Mutation 'IGL01694:4930474N05Rik'
ID 104198
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930474N05Rik
Ensembl Gene ENSMUSG00000096405
Gene Name RIKEN cDNA 4930474N05 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # IGL01694
Quality Score
Status
Chromosome 14
Chromosomal Location 35816899-35819358 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 35818659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 219 (*219W)
Ref Sequence ENSEMBL: ENSMUSP00000153709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000177985] [ENSMUST00000186722] [ENSMUST00000226305]
AlphaFold Q8BVR5
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 probably null
Transcript: ENSMUST00000226305
AA Change: *219W
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 G A 2: 22,850,725 (GRCm39) T238M probably damaging Het
Agbl2 C T 2: 90,631,418 (GRCm39) L259F probably damaging Het
Cacna1g T A 11: 94,319,938 (GRCm39) I1413F probably damaging Het
Ddx21 T A 10: 62,434,430 (GRCm39) K110* probably null Het
Dnm1l A T 16: 16,134,515 (GRCm39) I463N probably benign Het
Dst C A 1: 34,227,241 (GRCm39) H1286Q probably benign Het
Elmo2 A T 2: 165,156,693 (GRCm39) N67K probably benign Het
Eps8l3 G A 3: 107,799,624 (GRCm39) C578Y probably damaging Het
Fam83b T A 9: 76,398,272 (GRCm39) I944F probably benign Het
Itga10 A T 3: 96,559,833 (GRCm39) D496V probably damaging Het
Lama2 T G 10: 26,882,738 (GRCm39) K2608N possibly damaging Het
Lap3 T A 5: 45,655,937 (GRCm39) probably null Het
Madd T C 2: 90,988,320 (GRCm39) probably benign Het
Mdh1b T A 1: 63,750,265 (GRCm39) probably benign Het
Ncapg2 G A 12: 116,370,850 (GRCm39) probably benign Het
Opalin A G 19: 41,052,239 (GRCm39) probably benign Het
Or4e2 A G 14: 52,688,041 (GRCm39) N57S probably benign Het
Plxna3 T A X: 73,382,114 (GRCm39) D1291E probably damaging Het
Prss40 T A 1: 34,595,178 (GRCm39) I101F probably benign Het
Rpl5 T C 5: 108,055,106 (GRCm39) Y253H probably benign Het
Sephs2 A G 7: 126,872,259 (GRCm39) I278T probably benign Het
Slc25a34 G A 4: 141,349,564 (GRCm39) A197V probably benign Het
Slco6d1 C T 1: 98,427,570 (GRCm39) R634W probably damaging Het
Smarca4 C A 9: 21,577,166 (GRCm39) A871D probably damaging Het
Speer2 C T 16: 69,655,000 (GRCm39) S155N probably damaging Het
Speer2 T A 16: 69,655,001 (GRCm39) S155C probably damaging Het
Spink12 T A 18: 44,240,827 (GRCm39) V71E probably damaging Het
Tecta T C 9: 42,278,475 (GRCm39) D1011G possibly damaging Het
Tmtc4 G A 14: 123,210,624 (GRCm39) T78I possibly damaging Het
Tub T C 7: 108,620,243 (GRCm39) probably benign Het
Vps13c T A 9: 67,802,631 (GRCm39) V644D probably damaging Het
Zfp7 C T 15: 76,774,995 (GRCm39) Q346* probably null Het
Other mutations in 4930474N05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01393:4930474N05Rik APN 14 35,818,379 (GRCm39) missense possibly damaging 0.54
IGL02821:4930474N05Rik APN 14 35,818,473 (GRCm39) missense probably benign 0.19
R0071:4930474N05Rik UTSW 14 35,812,746 (GRCm39) unclassified probably benign
R0537:4930474N05Rik UTSW 14 35,818,657 (GRCm39) missense probably benign 0.07
R0960:4930474N05Rik UTSW 14 35,818,367 (GRCm39) missense probably benign 0.01
R1919:4930474N05Rik UTSW 14 35,817,414 (GRCm39) missense possibly damaging 0.48
R2338:4930474N05Rik UTSW 14 35,817,109 (GRCm39) missense probably benign
R3837:4930474N05Rik UTSW 14 35,817,435 (GRCm39) missense probably benign 0.03
R4192:4930474N05Rik UTSW 14 35,818,536 (GRCm39) missense possibly damaging 0.94
R4193:4930474N05Rik UTSW 14 35,818,536 (GRCm39) missense possibly damaging 0.94
R4526:4930474N05Rik UTSW 14 35,818,535 (GRCm39) missense probably damaging 1.00
R7007:4930474N05Rik UTSW 14 35,817,121 (GRCm39) missense probably benign 0.18
R7302:4930474N05Rik UTSW 14 35,817,306 (GRCm39) missense probably benign 0.00
R7998:4930474N05Rik UTSW 14 35,818,649 (GRCm39) missense probably benign 0.22
R8202:4930474N05Rik UTSW 14 35,817,057 (GRCm39) missense probably benign 0.01
R8714:4930474N05Rik UTSW 14 35,818,456 (GRCm39) nonsense probably null
Posted On 2014-01-21