Incidental Mutation 'R6281:1700018B08Rik'
ID 507961
Institutional Source Beutler Lab
Gene Symbol 1700018B08Rik
Ensembl Gene ENSMUSG00000031809
Gene Name RIKEN cDNA 1700018B08 gene
Synonyms
MMRRC Submission 044451-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R6281 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 122257519-122271059 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 122258620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 166 (C166F)
Ref Sequence ENSEMBL: ENSMUSP00000138106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034265] [ENSMUST00000127664] [ENSMUST00000182460] [ENSMUST00000182739] [ENSMUST00000183280]
AlphaFold Q9DA83
Predicted Effect possibly damaging
Transcript: ENSMUST00000034265
AA Change: C147F

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034265
Gene: ENSMUSG00000031809
AA Change: C147F

DomainStartEndE-ValueType
Pfam:DUF4568 3 213 1.4e-118 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000182460
AA Change: C166F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000138106
Gene: ENSMUSG00000031809
AA Change: C166F

DomainStartEndE-ValueType
Pfam:DUF4568 23 188 7.2e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182739
Predicted Effect probably benign
Transcript: ENSMUST00000183280
SMART Domains Protein: ENSMUSP00000138141
Gene: ENSMUSG00000031809

DomainStartEndE-ValueType
Pfam:DUF4568 3 48 2.1e-6 PFAM
Meta Mutation Damage Score 0.1783 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aida C T 1: 183,103,145 (GRCm39) A237V probably damaging Het
Ankib1 T C 5: 3,751,965 (GRCm39) T692A possibly damaging Het
As3mt T C 19: 46,713,362 (GRCm39) V303A possibly damaging Het
Bhlhe40 T A 6: 108,641,423 (GRCm39) probably null Het
Bhmt2 G A 13: 93,799,668 (GRCm39) P256L probably damaging Het
Bpifb1 T C 2: 154,048,385 (GRCm39) I140T probably damaging Het
Cat A T 2: 103,302,114 (GRCm39) H194Q probably damaging Het
Cbfa2t3 C A 8: 123,360,148 (GRCm39) R466L probably damaging Het
Fancm T C 12: 65,135,044 (GRCm39) V279A probably damaging Het
Gabra2 T C 5: 71,192,105 (GRCm39) T75A probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gm3512 T A 14: 7,159,254 (GRCm38) D7V possibly damaging Het
Gpr15 A G 16: 58,538,957 (GRCm39) F44S probably damaging Het
Ighv1-72 C A 12: 115,722,023 (GRCm39) C5F probably benign Het
Lilra6 A G 7: 3,914,972 (GRCm39) L474P probably damaging Het
Mboat2 T C 12: 25,007,678 (GRCm39) V297A probably benign Het
Muc2 C G 7: 141,306,140 (GRCm39) C276W probably damaging Het
Ncor1 T C 11: 62,264,371 (GRCm39) S141G possibly damaging Het
Or4k77 T C 2: 111,199,894 (GRCm39) *306R probably null Het
Or5p80 T G 7: 108,229,609 (GRCm39) S137A probably benign Het
Pax5 T G 4: 44,691,955 (GRCm39) E97A probably benign Het
Pcdhga11 A T 18: 37,890,426 (GRCm39) D478V probably damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Phf21b G T 15: 84,738,946 (GRCm39) D38E probably benign Het
Ptcd1 T C 5: 145,101,881 (GRCm39) K146R probably benign Het
Rad23a A T 8: 85,564,739 (GRCm39) M166K probably damaging Het
Rfc4 A T 16: 22,936,816 (GRCm39) probably null Het
Slc17a3 T A 13: 24,040,782 (GRCm39) I336N probably benign Het
Slc2a12 T A 10: 22,541,219 (GRCm39) M358K probably damaging Het
Stk31 T G 6: 49,446,114 (GRCm39) M939R possibly damaging Het
Tecrl T A 5: 83,442,453 (GRCm39) T167S probably damaging Het
Tfap2d G C 1: 19,174,702 (GRCm39) G52R probably benign Het
Ttn C T 2: 76,772,172 (GRCm39) V2577M probably damaging Het
Uox C T 3: 146,330,332 (GRCm39) R163* probably null Het
Vezt G A 10: 93,809,808 (GRCm39) R578C probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vwa3b T A 1: 37,163,063 (GRCm39) L562Q probably damaging Het
Zfyve27 T A 19: 42,171,194 (GRCm39) N127K probably damaging Het
Znfx1 A G 2: 166,897,805 (GRCm39) F373S probably damaging Het
Zswim8 G A 14: 20,764,708 (GRCm39) V693I probably benign Het
Other mutations in 1700018B08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02700:1700018B08Rik APN 8 122,262,161 (GRCm39) critical splice donor site probably null
IGL03124:1700018B08Rik APN 8 122,268,449 (GRCm39) splice site probably benign
R1475:1700018B08Rik UTSW 8 122,267,327 (GRCm39) splice site probably benign
R2883:1700018B08Rik UTSW 8 122,266,644 (GRCm39) missense probably damaging 1.00
R3967:1700018B08Rik UTSW 8 122,266,719 (GRCm39) missense possibly damaging 0.52
R6490:1700018B08Rik UTSW 8 122,267,293 (GRCm39) missense probably benign 0.06
R6920:1700018B08Rik UTSW 8 122,262,160 (GRCm39) critical splice donor site probably null
R6934:1700018B08Rik UTSW 8 122,266,712 (GRCm39) missense probably benign 0.05
R8995:1700018B08Rik UTSW 8 122,257,764 (GRCm39) makesense probably null
Z1177:1700018B08Rik UTSW 8 122,266,721 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CACCAAATGGCTATGATGGC -3'
(R):5'- AGACACTGTCTGATGATGGTTG -3'

Sequencing Primer
(F):5'- TATGATGGCCCTCAGGACTG -3'
(R):5'- AGATCTGTGTTCGAGACCAGC -3'
Posted On 2018-03-15