Incidental Mutation 'IGL02246:4933427I04Rik'
ID 286204
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4933427I04Rik
Ensembl Gene ENSMUSG00000073761
Gene Name Riken cDNA 4933427I04 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL02246
Quality Score
Status
Chromosome 4
Chromosomal Location 123753472-123756958 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 123754655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 190 (D190Y)
Ref Sequence ENSEMBL: ENSMUSP00000095506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097896]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000097896
AA Change: D190Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137546
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 G A 9: 53,496,166 (GRCm39) L324F probably benign Het
Ago2 T C 15: 72,980,267 (GRCm39) H743R probably damaging Het
Ahnak A T 19: 8,985,632 (GRCm39) L2305F probably damaging Het
Ankhd1 T A 18: 36,789,779 (GRCm39) H2438Q probably damaging Het
Atm G T 9: 53,438,485 (GRCm39) Q162K probably benign Het
Bpifa6 A T 2: 153,831,196 (GRCm39) E254V probably damaging Het
Carns1 T A 19: 4,216,431 (GRCm39) N584Y possibly damaging Het
Cmklr1 T C 5: 113,752,461 (GRCm39) N180S probably benign Het
Col6a5 G A 9: 105,788,306 (GRCm39) R1565* probably null Het
Fbxo43 T A 15: 36,162,842 (GRCm39) I122L probably benign Het
Fibp A G 19: 5,513,264 (GRCm39) Y193C probably damaging Het
Gm10923 A G 15: 85,001,132 (GRCm39) probably benign Het
Il12rb2 A G 6: 67,285,940 (GRCm39) probably null Het
Jakmip2 T C 18: 43,700,223 (GRCm39) E445G possibly damaging Het
Krcc1 G A 6: 71,261,405 (GRCm39) D146N probably benign Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Map2k5 A T 9: 63,284,411 (GRCm39) D43E probably benign Het
Nup155 A G 15: 8,172,486 (GRCm39) K824R probably benign Het
Or2o1 T C 11: 49,050,921 (GRCm39) S27P probably benign Het
Or51g2 T C 7: 102,622,951 (GRCm39) T83A possibly damaging Het
Phkg1 G A 5: 129,893,479 (GRCm39) R324W probably damaging Het
Plcd1 G A 9: 118,901,677 (GRCm39) L616F probably benign Het
Rnf141 A T 7: 110,424,494 (GRCm39) S122T probably benign Het
Tap1 G A 17: 34,412,963 (GRCm39) V593M probably benign Het
Ticrr T C 7: 79,325,076 (GRCm39) L534P probably damaging Het
Ubr4 G T 4: 139,186,414 (GRCm39) E640D possibly damaging Het
Vmn1r169 A C 7: 23,276,661 (GRCm39) I18L probably benign Het
Other mutations in 4933427I04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:4933427I04Rik APN 4 123,754,338 (GRCm39) missense probably damaging 0.97
IGL01518:4933427I04Rik APN 4 123,754,494 (GRCm39) missense probably benign 0.00
PIT4494001:4933427I04Rik UTSW 4 123,754,698 (GRCm39) missense probably benign
R0090:4933427I04Rik UTSW 4 123,754,775 (GRCm39) missense possibly damaging 0.66
R0299:4933427I04Rik UTSW 4 123,754,615 (GRCm39) missense possibly damaging 0.66
R0598:4933427I04Rik UTSW 4 123,754,681 (GRCm39) missense possibly damaging 0.46
R1775:4933427I04Rik UTSW 4 123,754,286 (GRCm39) missense possibly damaging 0.66
R2082:4933427I04Rik UTSW 4 123,754,769 (GRCm39) missense probably benign 0.05
R4581:4933427I04Rik UTSW 4 123,754,146 (GRCm39) missense possibly damaging 0.90
R4594:4933427I04Rik UTSW 4 123,754,331 (GRCm39) missense possibly damaging 0.66
R4841:4933427I04Rik UTSW 4 123,754,170 (GRCm39) missense probably benign 0.04
R6021:4933427I04Rik UTSW 4 123,754,509 (GRCm39) missense possibly damaging 0.90
R6759:4933427I04Rik UTSW 4 123,753,879 (GRCm39) start gained probably benign
R7660:4933427I04Rik UTSW 4 123,754,512 (GRCm39) missense possibly damaging 0.66
R8553:4933427I04Rik UTSW 4 123,754,327 (GRCm39) missense probably benign 0.03
R9333:4933427I04Rik UTSW 4 123,754,416 (GRCm39) missense probably benign 0.00
R9399:4933427I04Rik UTSW 4 123,754,413 (GRCm39) nonsense probably null
R9465:4933427I04Rik UTSW 4 123,754,317 (GRCm39) missense possibly damaging 0.83
Z1176:4933427I04Rik UTSW 4 123,754,668 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16