Incidental Mutation 'IGL01919:2700062C07Rik'
ID 180063
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2700062C07Rik
Ensembl Gene ENSMUSG00000024273
Gene Name RIKEN cDNA 2700062C07 gene
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.926) question?
Stock # IGL01919
Quality Score
Status
Chromosome 18
Chromosomal Location 24603928-24610824 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 24608580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000095251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097646] [ENSMUST00000097646]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000097646
SMART Domains Protein: ENSMUSP00000095251
Gene: ENSMUSG00000024273

DomainStartEndE-ValueType
Pfam:DUF4674 27 217 3.9e-80 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000097646
SMART Domains Protein: ENSMUSP00000095251
Gene: ENSMUSG00000024273

DomainStartEndE-ValueType
Pfam:DUF4674 27 217 3.9e-80 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T C 6: 85,604,986 (GRCm39) F2212S possibly damaging Het
Anpep T C 7: 79,475,098 (GRCm39) I155V possibly damaging Het
Aoc1 G A 6: 48,885,223 (GRCm39) V653M probably damaging Het
Arl8b T C 6: 108,798,518 (GRCm39) probably benign Het
Bax A C 7: 45,115,552 (GRCm39) probably null Het
Cpne7 G A 8: 123,852,382 (GRCm39) E195K probably damaging Het
Csmd3 A G 15: 47,539,168 (GRCm39) I2330T possibly damaging Het
Dnajc16 A G 4: 141,501,940 (GRCm39) S297P probably benign Het
Farp2 A G 1: 93,504,155 (GRCm39) K311E probably damaging Het
Fhad1 A G 4: 141,691,906 (GRCm39) L410P probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm12185 T C 11: 48,798,886 (GRCm39) T536A possibly damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hydin C T 8: 111,245,806 (GRCm39) T2173I possibly damaging Het
Kpnb1 A G 11: 97,055,556 (GRCm39) V783A probably benign Het
Krt1 A G 15: 101,754,811 (GRCm39) V509A unknown Het
Lrwd1 A T 5: 136,164,729 (GRCm39) L26* probably null Het
Mal2 T A 15: 54,451,728 (GRCm39) W50R probably damaging Het
Map3k21 A T 8: 126,668,871 (GRCm39) E819V probably damaging Het
Mrgprx3-ps T C 7: 46,959,959 (GRCm39) T11A probably benign Het
Mroh2b T C 15: 4,953,170 (GRCm39) F635L probably benign Het
Mylip G A 13: 45,562,178 (GRCm39) E327K probably damaging Het
Nfix T C 8: 85,453,103 (GRCm39) D308G probably damaging Het
Or1l8 G A 2: 36,817,824 (GRCm39) Q101* probably null Het
Or7e166 G A 9: 19,624,638 (GRCm39) V172I probably benign Het
Psma6 A G 12: 55,454,254 (GRCm39) E26G probably damaging Het
Rgs16 T A 1: 153,617,804 (GRCm39) S105T probably damaging Het
Slc25a23 T A 17: 57,354,291 (GRCm39) N372Y possibly damaging Het
Slc35e2 A G 4: 155,697,187 (GRCm39) M234V probably benign Het
Tbc1d8 A G 1: 39,431,334 (GRCm39) V346A probably damaging Het
Tgfb1i1 C T 7: 127,847,654 (GRCm39) probably benign Het
Triml2 A C 8: 43,643,349 (GRCm39) T177P probably damaging Het
Uba6 T C 5: 86,267,245 (GRCm39) T959A probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Other mutations in 2700062C07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02217:2700062C07Rik APN 18 24,603,955 (GRCm39) utr 5 prime probably benign
R1108:2700062C07Rik UTSW 18 24,610,333 (GRCm39) missense probably benign 0.09
R1422:2700062C07Rik UTSW 18 24,610,333 (GRCm39) missense probably benign 0.09
R2212:2700062C07Rik UTSW 18 24,603,977 (GRCm39) missense probably damaging 1.00
R4030:2700062C07Rik UTSW 18 24,608,715 (GRCm39) missense probably benign 0.00
R4246:2700062C07Rik UTSW 18 24,606,013 (GRCm39) missense possibly damaging 0.73
R4248:2700062C07Rik UTSW 18 24,606,013 (GRCm39) missense possibly damaging 0.73
R4249:2700062C07Rik UTSW 18 24,606,013 (GRCm39) missense possibly damaging 0.73
R4734:2700062C07Rik UTSW 18 24,603,961 (GRCm39) start codon destroyed probably null 0.86
R7269:2700062C07Rik UTSW 18 24,606,013 (GRCm39) missense probably damaging 0.98
R7903:2700062C07Rik UTSW 18 24,608,783 (GRCm39) critical splice donor site probably null
R8125:2700062C07Rik UTSW 18 24,608,709 (GRCm39) missense probably benign
R9577:2700062C07Rik UTSW 18 24,608,663 (GRCm39) missense probably benign 0.01
Posted On 2014-05-07