Incidental Mutation 'R1422:2700062C07Rik'
ID161150
Institutional Source Beutler Lab
Gene Symbol 2700062C07Rik
Ensembl Gene ENSMUSG00000024273
Gene NameRIKEN cDNA 2700062C07 gene
Synonyms
MMRRC Submission 039478-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.918) question?
Stock #R1422 (G1)
Quality Score225
Status Validated
Chromosome18
Chromosomal Location24470861-24477765 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 24477276 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 170 (T170A)
Ref Sequence ENSEMBL: ENSMUSP00000095251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097646]
Predicted Effect probably benign
Transcript: ENSMUST00000097646
AA Change: T170A

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000095251
Gene: ENSMUSG00000024273
AA Change: T170A

DomainStartEndE-ValueType
Pfam:DUF4674 27 217 3.9e-80 PFAM
Meta Mutation Damage Score 0.0617 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.6%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110002H16Rik G A 18: 12,181,623 D87N probably damaging Het
4931408C20Rik C G 1: 26,682,466 S1211T possibly damaging Het
Arhgap5 T A 12: 52,519,514 D1089E probably damaging Het
Atrn T C 2: 130,957,914 Y404H probably damaging Het
Becn1 T C 11: 101,295,126 D98G possibly damaging Het
Coro2b A G 9: 62,428,947 probably null Het
Cpne4 T C 9: 104,900,285 I143T probably damaging Het
Cr2 A G 1: 195,171,125 I35T probably benign Het
Ctns T C 11: 73,185,246 Y321C probably damaging Het
Cyp4f16 A T 17: 32,542,999 M174L probably damaging Het
Dpy19l4 T C 4: 11,317,168 E10G possibly damaging Het
Dtx3 T A 10: 127,191,289 I339F possibly damaging Het
Fam184a A T 10: 53,675,208 M625K probably benign Het
Fgd6 A G 10: 94,045,372 E696G probably damaging Het
Gm14685 G T X: 73,127,655 G218C probably damaging Het
Gm17535 A G 9: 3,035,804 Y224C probably null Het
Gria1 T A 11: 57,189,788 L199Q probably benign Het
Hk1 T C 10: 62,296,094 D184G probably null Het
Ift88 T C 14: 57,438,301 probably benign Het
Ift88 G A 14: 57,472,979 V403M probably damaging Het
Igsf1 C A X: 49,782,936 G737* probably null Het
Kif19a A G 11: 114,785,809 D488G probably benign Het
Lpcat2 T C 8: 92,879,417 L232P probably damaging Het
Ly9 A G 1: 171,601,212 V280A probably damaging Het
Macrod2 T A 2: 140,419,941 probably null Het
Mmp1a A G 9: 7,464,298 probably null Het
Mmrn2 A G 14: 34,396,239 H80R probably damaging Het
Olfr1156 G A 2: 87,950,095 T46I probably benign Het
Olfr124 T C 17: 37,805,363 Y73H probably damaging Het
Olfr564 G A 7: 102,803,850 R124H probably benign Het
Pkd1l3 C A 8: 109,621,708 P194H unknown Het
Plk2 A G 13: 110,399,489 M576V probably damaging Het
Pms2 T A 5: 143,913,705 S113T probably damaging Het
Ptprk A G 10: 28,475,280 I590V possibly damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Rad17 A G 13: 100,645,082 L69P probably benign Het
Robo2 G A 16: 73,978,448 T466M probably damaging Het
Sema6a A G 18: 47,306,431 C9R probably benign Het
Slc6a19 A G 13: 73,685,869 S357P probably benign Het
Spock3 T C 8: 63,143,989 I109T possibly damaging Het
Svs6 T C 2: 164,317,660 probably null Het
Tenm4 A T 7: 96,550,051 D17V probably damaging Het
Trp53bp2 T A 1: 182,446,464 M558K probably benign Het
Ttn T C 2: 76,741,670 E26293G probably damaging Het
Vmn1r29 A G 6: 58,307,886 Y197C probably damaging Het
Wdfy3 A T 5: 101,884,214 probably benign Het
Zfp366 A G 13: 99,229,296 K322E probably damaging Het
Other mutations in 2700062C07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01919:2700062C07Rik APN 18 24475523 critical splice acceptor site probably null
IGL02217:2700062C07Rik APN 18 24470898 utr 5 prime probably benign
R1108:2700062C07Rik 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
R7269:2700062C07Rik UTSW 18 24472956 missense probably damaging 0.98
R7903:2700062C07Rik UTSW 18 24475726 critical splice donor site probably null
R8125:2700062C07Rik UTSW 18 24475652 missense probably benign
Predicted Primers PCR Primer
(F):5'- ATAAGCACAGCCAGTGTCCATACG -3'
(R):5'- TGGTTTAATGAGGCACTTCCCACAG -3'

Sequencing Primer
(F):5'- TCCATACGGAGCTGTAGTGC -3'
(R):5'- CGAGAACAGCTTGCTTTTGAC -3'
Posted On2014-03-14