Incidental Mutation 'IGL01919:2700062C07Rik'
ID180063
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2700062C07Rik
Ensembl Gene ENSMUSG00000024273
Gene NameRIKEN cDNA 2700062C07 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.761) question?
Stock #IGL01919
Quality Score
Status
Chromosome18
Chromosomal Location24470861-24477765 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) A to G at 24475523 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000095251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097646]
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: 85,628,004 F2212S possibly damaging Het
Anpep T C 7: 79,825,350 I155V possibly damaging Het
Aoc1 G A 6: 48,908,289 V653M probably damaging Het
Arl8b T C 6: 108,821,557 probably benign Het
Bax A C 7: 45,466,128 probably null Het
Cpne7 G A 8: 123,125,643 E195K probably damaging Het
Csmd3 A G 15: 47,675,772 I2330T possibly damaging Het
Dnajc16 A G 4: 141,774,629 S297P probably benign Het
Farp2 A G 1: 93,576,433 K311E probably damaging Het
Fhad1 A G 4: 141,964,595 L410P probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm12185 T C 11: 48,908,059 T536A possibly damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Hydin C T 8: 110,519,174 T2173I possibly damaging Het
Kpnb1 A G 11: 97,164,730 V783A probably benign Het
Krt1 A G 15: 101,846,376 V509A unknown Het
Lrwd1 A T 5: 136,135,875 L26* probably null Het
Mal2 T A 15: 54,588,332 W50R probably damaging Het
Map3k21 A T 8: 125,942,132 E819V probably damaging Het
Mrgprx3-ps T C 7: 47,310,211 T11A probably benign Het
Mroh2b T C 15: 4,923,688 F635L probably benign Het
Mylip G A 13: 45,408,702 E327K probably damaging Het
Nfix T C 8: 84,726,474 D308G probably damaging Het
Olfr355 G A 2: 36,927,812 Q101* probably null Het
Olfr857 G A 9: 19,713,342 V172I probably benign Het
Psma6 A G 12: 55,407,469 E26G probably damaging Het
Rgs16 T A 1: 153,742,058 S105T probably damaging Het
Slc25a23 T A 17: 57,047,291 N372Y possibly damaging Het
Slc35e2 A G 4: 155,612,730 M234V probably benign Het
Tbc1d8 A G 1: 39,392,253 V346A probably damaging Het
Tgfb1i1 C T 7: 128,248,482 probably benign Het
Triml2 A C 8: 43,190,312 T177P probably damaging Het
Uba6 T C 5: 86,119,386 T959A probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in 2700062C07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02217:2700062C07Rik APN 18 24470898 utr 5 prime probably benign
R1108:2700062C07Rik UTSW 18 24477276 missense probably benign 0.09
R1422:2700062C07Rik UTSW 18 24477276 missense probably benign 0.09
R2212:2700062C07Rik UTSW 18 24470920 missense probably damaging 1.00
R4030:2700062C07Rik UTSW 18 24475658 missense probably benign 0.00
R4246:2700062C07Rik UTSW 18 24472956 missense possibly damaging 0.73
R4248:2700062C07Rik UTSW 18 24472956 missense possibly damaging 0.73
R4249:2700062C07Rik UTSW 18 24472956 missense possibly damaging 0.73
R4734:2700062C07Rik UTSW 18 24470904 start codon destroyed probably null 0.86
Posted On2014-05-07