Incidental Mutation 'IGL02928:1700018F24Rik'
ID 363983
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700018F24Rik
Ensembl Gene ENSMUSG00000029620
Gene Name RIKEN cDNA 1700018F24 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # IGL02928
Quality Score
Status
Chromosome 5
Chromosomal Location 144979800-144982491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144980327 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 92 (Y92C)
Ref Sequence ENSEMBL: ENSMUSP00000031624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031624] [ENSMUST00000151196]
AlphaFold B2RW27
Predicted Effect probably damaging
Transcript: ENSMUST00000031624
AA Change: Y92C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031624
Gene: ENSMUSG00000029620
AA Change: Y92C

DomainStartEndE-ValueType
Pfam:RasGEF_N 62 153 2.9e-10 PFAM
low complexity region 166 186 N/A INTRINSIC
low complexity region 230 241 N/A INTRINSIC
low complexity region 260 286 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151196
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 A T 4: 144,255,802 (GRCm39) L407F possibly damaging Het
Abcc3 G T 11: 94,252,132 (GRCm39) T817K possibly damaging Het
Arhgap10 G A 8: 77,977,539 (GRCm39) probably benign Het
Arhgef16 G T 4: 154,367,350 (GRCm39) Q352K probably benign Het
Cep104 A G 4: 154,065,716 (GRCm39) I68V probably benign Het
Col5a2 G A 1: 45,424,180 (GRCm39) A1082V probably benign Het
Col6a1 A T 10: 76,545,500 (GRCm39) Y991N possibly damaging Het
Ehmt2 T C 17: 35,129,798 (GRCm39) I1021T probably damaging Het
Eif2ak4 G A 2: 118,303,168 (GRCm39) probably null Het
Ern1 A G 11: 106,296,705 (GRCm39) probably benign Het
Fgf18 A T 11: 33,074,674 (GRCm39) I99N possibly damaging Het
Glp1r A G 17: 31,137,911 (GRCm39) D114G probably benign Het
Gm10553 A G 1: 85,077,933 (GRCm39) K17E possibly damaging Het
Gm5422 T A 10: 31,126,250 (GRCm39) noncoding transcript Het
Gnb1 A C 4: 155,637,863 (GRCm39) T196P probably benign Het
Ighv6-5 T A 12: 114,380,412 (GRCm39) D35V probably benign Het
Il18r1 G A 1: 40,517,711 (GRCm39) probably null Het
Ipo11 A T 13: 107,025,863 (GRCm39) probably benign Het
Itih1 T A 14: 30,659,715 (GRCm39) Q307L probably damaging Het
Mmp1b T A 9: 7,368,242 (GRCm39) *464L probably null Het
Mrps7 C T 11: 115,495,910 (GRCm39) Q113* probably null Het
Npat A C 9: 53,478,138 (GRCm39) probably benign Het
Nrp2 A G 1: 62,854,605 (GRCm39) I852V probably damaging Het
Or10ak14 A G 4: 118,611,697 (GRCm39) F15L probably damaging Het
Or5ae2 A G 7: 84,506,273 (GRCm39) E232G probably benign Het
P2rx6 T A 16: 17,382,901 (GRCm39) probably benign Het
Parp6 T A 9: 59,548,346 (GRCm39) N466K possibly damaging Het
Prss12 A T 3: 123,280,805 (GRCm39) N497Y possibly damaging Het
Psg22 T C 7: 18,453,458 (GRCm39) V51A probably damaging Het
Ptgir T C 7: 16,642,923 (GRCm39) S175P possibly damaging Het
Rd3l T C 12: 111,946,012 (GRCm39) S156G probably benign Het
Reck C T 4: 43,912,078 (GRCm39) H196Y possibly damaging Het
Rft1 T A 14: 30,385,072 (GRCm39) V165D possibly damaging Het
Rin2 A G 2: 145,701,926 (GRCm39) probably benign Het
Rufy4 A G 1: 74,168,241 (GRCm39) probably benign Het
Scfd2 G A 5: 74,691,832 (GRCm39) T150M probably damaging Het
Sgca A G 11: 94,863,129 (GRCm39) W75R probably damaging Het
Sirt7 A T 11: 120,511,042 (GRCm39) D318E probably benign Het
Smr2l A T 5: 88,424,976 (GRCm39) I14L probably benign Het
Snta1 C T 2: 154,222,959 (GRCm39) A255T probably benign Het
Stxbp2 A G 8: 3,691,736 (GRCm39) D485G probably damaging Het
Sycp1 T A 3: 102,726,134 (GRCm39) probably benign Het
Tenm2 A G 11: 35,917,997 (GRCm39) V1922A possibly damaging Het
Ttc7b A T 12: 100,369,674 (GRCm39) V365D probably damaging Het
Upk3b A G 5: 136,067,995 (GRCm39) E62G probably benign Het
Wdr36 T C 18: 32,980,372 (GRCm39) probably null Het
Yars2 T C 16: 16,121,410 (GRCm39) F188S probably damaging Het
Other mutations in 1700018F24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01625:1700018F24Rik APN 5 144,979,957 (GRCm39) missense possibly damaging 0.83
IGL01751:1700018F24Rik APN 5 144,979,981 (GRCm39) splice site probably null
IGL03324:1700018F24Rik APN 5 144,982,261 (GRCm39) missense probably benign 0.01
PIT4486001:1700018F24Rik UTSW 5 144,980,914 (GRCm39) missense probably damaging 1.00
R0359:1700018F24Rik UTSW 5 144,982,181 (GRCm39) nonsense probably null
R0554:1700018F24Rik UTSW 5 144,982,181 (GRCm39) nonsense probably null
R0724:1700018F24Rik UTSW 5 144,981,573 (GRCm39) missense probably benign 0.10
R1774:1700018F24Rik UTSW 5 144,982,351 (GRCm39) missense probably damaging 0.99
R2041:1700018F24Rik UTSW 5 144,982,211 (GRCm39) missense probably damaging 0.99
R4625:1700018F24Rik UTSW 5 144,981,693 (GRCm39) missense possibly damaging 0.95
R5043:1700018F24Rik UTSW 5 144,980,910 (GRCm39) nonsense probably null
R5610:1700018F24Rik UTSW 5 144,982,156 (GRCm39) missense possibly damaging 0.92
R5712:1700018F24Rik UTSW 5 144,981,563 (GRCm39) missense probably benign 0.32
R6163:1700018F24Rik UTSW 5 144,982,098 (GRCm39) nonsense probably null
R6799:1700018F24Rik UTSW 5 144,981,624 (GRCm39) missense probably damaging 1.00
R7174:1700018F24Rik UTSW 5 144,981,627 (GRCm39) missense probably benign 0.27
R8127:1700018F24Rik UTSW 5 144,980,249 (GRCm39) missense possibly damaging 0.93
R8688:1700018F24Rik UTSW 5 144,982,183 (GRCm39) missense probably damaging 0.98
R8975:1700018F24Rik UTSW 5 144,980,192 (GRCm39) missense probably damaging 0.97
R9289:1700018F24Rik UTSW 5 144,982,333 (GRCm39) missense probably benign 0.00
R9473:1700018F24Rik UTSW 5 144,980,912 (GRCm39) missense probably benign 0.01
Posted On 2015-12-18