Incidental Mutation 'R6059:1700067P10Rik'
ID 483150
Institutional Source Beutler Lab
Gene Symbol 1700067P10Rik
Ensembl Gene ENSMUSG00000021545
Gene Name RIKEN cDNA 1700067P10 gene
Synonyms
MMRRC Submission 044225-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R6059 (G1)
Quality Score 210.009
Status Validated
Chromosome 17
Chromosomal Location 48400162-48401440 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 48400847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 44 (T44K)
Ref Sequence ENSEMBL: ENSMUSP00000022028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022028]
AlphaFold G3X8U2
Predicted Effect probably benign
Transcript: ENSMUST00000022028
AA Change: T44K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 95% (54/57)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 A G 5: 36,014,508 (GRCm39) D189G probably benign Het
Abo A G 2: 26,733,365 (GRCm39) V278A possibly damaging Het
Anxa1 A G 19: 20,355,064 (GRCm39) F237L possibly damaging Het
Atp11b A G 3: 35,868,326 (GRCm39) Y466C possibly damaging Het
Cfh T A 1: 140,046,428 (GRCm39) K531N possibly damaging Het
Cgref1 G T 5: 31,102,728 (GRCm39) P31Q probably damaging Het
Clca3a2 G A 3: 144,516,531 (GRCm39) A355V probably damaging Het
Cntnap5c T A 17: 58,620,707 (GRCm39) C929S probably damaging Het
Col6a6 A T 9: 105,661,116 (GRCm39) V331D probably damaging Het
Cyp4a12b T A 4: 115,295,301 (GRCm39) V469E possibly damaging Het
Dchs2 A G 3: 83,263,043 (GRCm39) S3104G probably benign Het
Ddx24 G T 12: 103,374,559 (GRCm39) A875E probably damaging Het
Dsc1 A T 18: 20,243,299 (GRCm39) N51K probably damaging Het
Efcab3 T C 11: 104,927,595 (GRCm39) I4788T probably benign Het
Epb41l3 A G 17: 69,591,637 (GRCm39) E708G probably damaging Het
Epb41l3 C T 17: 69,593,793 (GRCm39) T537I probably damaging Het
Fam162b A T 10: 51,466,403 (GRCm39) C39S probably benign Het
Garre1 G A 7: 33,944,888 (GRCm39) A452V possibly damaging Het
Gbf1 T C 19: 46,253,687 (GRCm39) I531T probably damaging Het
Glipr1l2 T C 10: 111,919,423 (GRCm39) V48A probably benign Het
Gorasp1 A G 9: 119,759,072 (GRCm39) V177A probably damaging Het
Gys1 A G 7: 45,104,712 (GRCm39) probably null Het
Hif1a T A 12: 73,988,574 (GRCm39) V523E probably damaging Het
Hnrnph3 A T 10: 62,854,641 (GRCm39) probably benign Het
Lcn9 C A 2: 25,714,737 (GRCm39) L159I possibly damaging Het
Luzp1 C T 4: 136,268,791 (GRCm39) A338V probably benign Het
Map3k10 A T 7: 27,356,247 (GRCm39) S891T probably damaging Het
Mmrn2 C T 14: 34,119,548 (GRCm39) Q97* probably null Het
Mov10 G A 3: 104,725,266 (GRCm39) probably benign Het
Ncam1 A C 9: 49,455,966 (GRCm39) Y551D probably damaging Het
Ncf1 A T 5: 134,252,341 (GRCm39) Y237N probably damaging Het
Nipbl A T 15: 8,325,052 (GRCm39) I2537N probably damaging Het
Nlrp1b A T 11: 71,107,836 (GRCm39) V555E possibly damaging Het
Nod2 T C 8: 89,391,042 (GRCm39) Y428H probably damaging Het
Nup133 C A 8: 124,641,335 (GRCm39) A862S probably damaging Het
Pcdhgb2 T A 18: 37,823,078 (GRCm39) L23* probably null Het
Pclo A G 5: 14,861,714 (GRCm39) E4889G unknown Het
Plcd3 T A 11: 102,971,227 (GRCm39) I110F possibly damaging Het
Plxna2 C A 1: 194,493,279 (GRCm39) N1851K possibly damaging Het
Ppp2r5c C A 12: 110,541,222 (GRCm39) A457E probably benign Het
Ppp5c C T 7: 16,761,832 (GRCm39) probably benign Het
Pramel25 T G 4: 143,520,550 (GRCm39) S101A possibly damaging Het
Prg4 T A 1: 150,325,748 (GRCm39) Y1009F possibly damaging Het
Rcor3 A T 1: 191,804,240 (GRCm39) M303K probably benign Het
Rrn3 G A 16: 13,624,468 (GRCm39) M433I probably benign Het
Serpinb9e G A 13: 33,441,757 (GRCm39) V230M probably benign Het
Shisa6 T A 11: 66,115,800 (GRCm39) H279L probably damaging Het
Slc38a11 A T 2: 65,165,089 (GRCm39) I234N probably damaging Het
Socs1 G C 16: 10,602,394 (GRCm39) F114L probably damaging Het
Ssc5d C T 7: 4,945,743 (GRCm39) T925M possibly damaging Het
Stc1 T C 14: 69,269,887 (GRCm39) S156P probably damaging Het
Ttc5 C G 14: 51,015,303 (GRCm39) V103L probably damaging Het
Vmn1r73 A G 7: 11,490,538 (GRCm39) T119A probably benign Het
Vmn2r99 G A 17: 19,599,242 (GRCm39) D309N probably benign Het
Vps53 T C 11: 75,957,693 (GRCm39) H353R possibly damaging Het
Ythdf3 T A 3: 16,257,356 (GRCm39) Y47* probably null Het
Zfp276 T C 8: 123,994,562 (GRCm39) M543T probably damaging Het
Other mutations in 1700067P10Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00546:1700067P10Rik APN 17 48,401,096 (GRCm39) missense possibly damaging 0.90
IGL02792:1700067P10Rik APN 17 48,401,107 (GRCm39) missense probably benign 0.11
R0445:1700067P10Rik UTSW 17 48,400,542 (GRCm39) critical splice acceptor site probably null
R1025:1700067P10Rik UTSW 17 48,401,030 (GRCm39) missense probably damaging 1.00
R1494:1700067P10Rik UTSW 17 48,400,991 (GRCm39) missense probably benign
R2133:1700067P10Rik UTSW 17 48,400,972 (GRCm39) missense possibly damaging 0.94
R8460:1700067P10Rik UTSW 17 48,400,849 (GRCm39) nonsense probably null
R8461:1700067P10Rik UTSW 17 48,400,849 (GRCm39) nonsense probably null
R8558:1700067P10Rik UTSW 17 48,400,849 (GRCm39) nonsense probably null
R8672:1700067P10Rik UTSW 17 48,400,849 (GRCm39) nonsense probably null
R8673:1700067P10Rik UTSW 17 48,400,849 (GRCm39) nonsense probably null
R8675:1700067P10Rik UTSW 17 48,400,849 (GRCm39) nonsense probably null
R8872:1700067P10Rik UTSW 17 48,401,164 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- AAGTCAGGTTGGAATGTCCC -3'
(R):5'- AGATAACAGCTGGGACTTGCC -3'

Sequencing Primer
(F):5'- AAGTCAGGTTGGAATGTCCCATTTTG -3'
(R):5'- TCAGCTTTTTCCTTCGGAGAG -3'
Posted On 2017-07-14