Incidental Mutation 'R6934:1700018B08Rik'
ID 540205
Institutional Source Beutler Lab
Gene Symbol 1700018B08Rik
Ensembl Gene ENSMUSG00000031809
Gene Name RIKEN cDNA 1700018B08 gene
Synonyms
MMRRC Submission 045049-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R6934 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 122257519-122271059 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122266712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 58 (Y58F)
Ref Sequence ENSEMBL: ENSMUSP00000138106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034265] [ENSMUST00000127664] [ENSMUST00000182460] [ENSMUST00000182739] [ENSMUST00000183280]
AlphaFold Q9DA83
Predicted Effect probably benign
Transcript: ENSMUST00000034265
AA Change: Y39F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034265
Gene: ENSMUSG00000031809
AA Change: Y39F

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 benign
Transcript: ENSMUST00000182460
AA Change: Y58F

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000138106
Gene: ENSMUSG00000031809
AA Change: Y58F

DomainStartEndE-ValueType
Pfam:DUF4568 23 188 7.2e-90 PFAM
Predicted Effect silent
Transcript: ENSMUST00000182739
Predicted Effect unknown
Transcript: ENSMUST00000183280
AA Change: M42L
SMART Domains Protein: ENSMUSP00000138141
Gene: ENSMUSG00000031809
AA Change: M42L

DomainStartEndE-ValueType
Pfam:DUF4568 3 48 2.1e-6 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asap2 T C 12: 21,218,251 (GRCm39) V58A probably damaging Het
Bccip A G 7: 133,322,520 (GRCm39) M289V probably benign Het
Bhmt2 A T 13: 93,798,819 (GRCm39) I334N probably benign Het
Copa T A 1: 171,938,253 (GRCm39) I513N possibly damaging Het
Cspg4b T C 13: 113,505,800 (GRCm39) S2310P probably benign Het
Ctif G A 18: 75,568,431 (GRCm39) T569M probably benign Het
Dennd1a A T 2: 37,691,225 (GRCm39) M231K possibly damaging Het
Dnah3 A G 7: 119,653,824 (GRCm39) probably null Het
Fat3 T C 9: 16,288,252 (GRCm39) I424V probably damaging Het
Foxred2 G T 15: 77,836,530 (GRCm39) C328* probably null Het
Gemin5 A T 11: 58,038,738 (GRCm39) H590Q probably damaging Het
Gm5475 T C 15: 100,325,007 (GRCm39) probably benign Het
Gmip A G 8: 70,273,576 (GRCm39) T956A probably benign Het
Hmbox1 A T 14: 65,134,281 (GRCm39) D106E probably benign Het
Irs2 A T 8: 11,054,697 (GRCm39) I1245N probably damaging Het
Kcnk1 A G 8: 126,752,129 (GRCm39) Y245C probably damaging Het
Krtap4-9 A T 11: 99,676,708 (GRCm39) R210* probably null Het
Lama1 A G 17: 68,081,538 (GRCm39) D1325G probably benign Het
Lyz3 C T 10: 117,074,413 (GRCm39) D25N probably benign Het
Mep1a A T 17: 43,793,121 (GRCm39) V361E probably damaging Het
Mrgprx2 A G 7: 48,131,813 (GRCm39) I92T possibly damaging Het
Nup214 A T 2: 31,872,683 (GRCm39) R242* probably null Het
Nynrin T G 14: 56,101,335 (GRCm39) S335A probably benign Het
Or13a24 T G 7: 140,154,564 (GRCm39) L166R probably damaging Het
Or5p60 A G 7: 107,724,026 (GRCm39) V148A probably benign Het
Or8b1c T G 9: 38,384,472 (GRCm39) I143S probably benign Het
Orc2 T C 1: 58,539,523 (GRCm39) K39E probably benign Het
Ppl C T 16: 4,912,373 (GRCm39) G736D probably benign Het
Ppp2r1a A G 17: 21,181,895 (GRCm39) E471G possibly damaging Het
Prrc2c G A 1: 162,548,074 (GRCm39) P161S probably benign Het
Rnf213 A G 11: 119,310,893 (GRCm39) I804V probably benign Het
Saal1 A G 7: 46,352,088 (GRCm39) C144R probably benign Het
Slc29a4 G A 5: 142,698,713 (GRCm39) V125I probably benign Het
Smarcc2 A G 10: 128,305,541 (GRCm39) T322A probably benign Het
Srgap2 A T 1: 131,244,969 (GRCm39) M591K possibly damaging Het
Stard9 A G 2: 120,528,176 (GRCm39) I1478V probably benign Het
Tet2 A G 3: 133,188,998 (GRCm39) probably null Het
Tmem150c C T 5: 100,243,465 (GRCm39) probably null Het
Tmem39b T A 4: 129,572,366 (GRCm39) H412L possibly damaging Het
Tox A C 4: 6,697,635 (GRCm39) H389Q probably damaging Het
Trank1 T C 9: 111,202,158 (GRCm39) I1595T probably damaging Het
Vmn2r-ps117 T G 17: 19,044,967 (GRCm39) Y461* probably null Het
Vps13a T C 19: 16,653,558 (GRCm39) H1941R probably damaging 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
R6281:1700018B08Rik UTSW 8 122,258,620 (GRCm39) missense probably damaging 1.00
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
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'- TGTATTGCAGAAACCTCAGTCACAG -3'
(R):5'- AAACAGCCATGTAGCCGCAG -3'

Sequencing Primer
(F):5'- ATCTATGACTTCAATGGGCTCTGGAC -3'
(R):5'- AGCCTCATTCTGAGTCACAGG -3'
Posted On 2018-11-06