Incidental Mutation 'R5250:1700001P01Rik'
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ID398967
Institutional Source Beutler Lab
Gene Symbol 1700001P01Rik
Ensembl Gene ENSMUSG00000018543
Gene NameRIKEN cDNA 1700001P01 gene
Synonyms
MMRRC Submission 042821-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.253) question?
Stock #R5250 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location97771481-97775918 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 97772727 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Leucine at position 99 (W99L)
Ref Sequence ENSEMBL: ENSMUSP00000103202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103146] [ENSMUST00000107576]
Predicted Effect probably benign
Transcript: ENSMUST00000103146
SMART Domains Protein: ENSMUSP00000099435
Gene: ENSMUSG00000071415

DomainStartEndE-ValueType
low complexity region 4 11 N/A INTRINSIC
Ribosomal_L14 19 140 2.71e-59 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000107576
AA Change: W99L

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103202
Gene: ENSMUSG00000018543
AA Change: W99L

DomainStartEndE-ValueType
Pfam:DUF4542 12 146 5.8e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120130
Meta Mutation Damage Score 0.2 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik T G 2: 111,228,077 T124P possibly damaging Het
Adamtsl1 A T 4: 86,216,945 K236* probably null Het
Adgre5 A G 8: 83,733,440 V109A probably benign Het
Adora2a T C 10: 75,326,048 I7T probably damaging Het
Ankrd6 A G 4: 32,860,335 V36A probably damaging Het
Arhgef2 T C 3: 88,633,648 probably null Het
Atg14 G A 14: 47,568,199 R70C probably damaging Het
Atg2b G A 12: 105,635,765 R1651W probably damaging Het
Atp6v0a1 T A 11: 101,043,044 V553D possibly damaging Het
Bard1 G A 1: 71,074,563 L420F probably damaging Het
BC067074 A G 13: 113,319,771 N784D possibly damaging Het
Bcat1 C G 6: 145,047,439 probably null Het
Bpifb5 A T 2: 154,224,961 N45Y probably benign Het
Btbd17 G T 11: 114,791,408 probably benign Het
Ccdc24 T C 4: 117,869,629 T296A possibly damaging Het
Col11a1 A G 3: 114,217,170 probably benign Het
Dhx38 A T 8: 109,556,520 V555D probably damaging Het
Dixdc1 T G 9: 50,683,735 E230A possibly damaging Het
Dnah7b T G 1: 46,373,354 V4041G probably damaging Het
Dnhd1 A T 7: 105,685,761 I1021L probably damaging Het
Fgl2 A G 5: 21,375,523 S288G possibly damaging Het
Flt4 T A 11: 49,630,400 I412N possibly damaging Het
Gabrb1 A G 5: 71,869,579 I141V possibly damaging Het
Gpc2 A G 5: 138,278,968 Y66H probably damaging Het
Hoxd3 C T 2: 74,744,306 Q99* probably null Het
Inpp5d T C 1: 87,709,675 V781A probably damaging Het
Larp4b T C 13: 9,170,977 probably benign Het
Lrrfip1 T A 1: 91,115,896 S674R possibly damaging Het
Megf6 A G 4: 154,256,010 T561A possibly damaging Het
Mpo A T 11: 87,803,433 Q83L probably benign Het
Mucl2 T C 15: 103,897,467 N75D possibly damaging Het
Myh13 C T 11: 67,327,259 Q53* probably null Het
Myot T A 18: 44,346,070 D291E probably damaging Het
Nae1 A G 8: 104,530,391 probably null Het
Ncoa2 A T 1: 13,224,689 S2R probably damaging Het
Nktr T A 9: 121,749,792 probably benign Het
Nrxn1 A G 17: 90,535,441 probably benign Het
Olfr115 A G 17: 37,609,960 S264P probably damaging Het
Olfr1437 T C 19: 12,322,066 T254A probably benign Het
Olfr432 T G 1: 174,051,272 F300V probably benign Het
P2rx2 T C 5: 110,341,588 E160G probably damaging Het
Pcdhga11 A T 18: 37,757,937 D666V probably damaging Het
Pcm1 A T 8: 41,312,205 E1484D probably damaging Het
Pdia4 C T 6: 47,796,685 A577T possibly damaging Het
Ppm1e T C 11: 87,230,918 I738V probably benign Het
Ppp1r13b G T 12: 111,844,960 R165S probably benign Het
Rasgrp2 T C 19: 6,404,313 W129R probably damaging Het
Smurf2 A G 11: 106,856,179 probably null Het
Ubr2 G T 17: 46,930,442 Q1729K probably benign Het
Zfp260 T A 7: 30,104,967 H97Q probably damaging Het
Zfp429 G T 13: 67,390,519 R269S probably benign Het
Zfp568 T C 7: 30,017,230 V185A probably benign Het
Other mutations in 1700001P01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00769:1700001P01Rik APN 11 97771581 missense probably damaging 0.97
IGL02372:1700001P01Rik APN 11 97775699 missense probably damaging 1.00
R1720:1700001P01Rik UTSW 11 97771609 missense probably damaging 1.00
R3684:1700001P01Rik UTSW 11 97775699 missense probably damaging 1.00
R4592:1700001P01Rik UTSW 11 97771615 missense probably damaging 1.00
X0020:1700001P01Rik UTSW 11 97775663 nonsense probably null
X0063:1700001P01Rik UTSW 11 97775805 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GGCACGCTAACTGCTATCAC -3'
(R):5'- AAGAAGCCCCAGGAAGTTCG -3'

Sequencing Primer
(F):5'- ACTCCCATATGACAGGATTCTG -3'
(R):5'- AAGTTCGCACGTCACTGCATG -3'
Posted On2016-07-06