Incidental Mutation 'R3708:1700012B07Rik'
ID 259449
Institutional Source Beutler Lab
Gene Symbol 1700012B07Rik
Ensembl Gene ENSMUSG00000020617
Gene Name RIKEN cDNA 1700012B07 gene
Synonyms
MMRRC Submission 040701-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R3708 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 109679093-109718905 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 109684980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 172 (C172*)
Ref Sequence ENSEMBL: ENSMUSP00000102285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020941] [ENSMUST00000106674] [ENSMUST00000143578]
AlphaFold Q3V0S8
Predicted Effect probably null
Transcript: ENSMUST00000020941
AA Change: C172*
SMART Domains Protein: ENSMUSP00000020941
Gene: ENSMUSG00000020617
AA Change: C172*

DomainStartEndE-ValueType
low complexity region 41 46 N/A INTRINSIC
low complexity region 61 71 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000106674
AA Change: C172*
SMART Domains Protein: ENSMUSP00000102285
Gene: ENSMUSG00000020617
AA Change: C172*

DomainStartEndE-ValueType
low complexity region 41 46 N/A INTRINSIC
low complexity region 61 71 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143578
SMART Domains Protein: ENSMUSP00000115395
Gene: ENSMUSG00000020617

DomainStartEndE-ValueType
low complexity region 33 38 N/A INTRINSIC
low complexity region 53 63 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147006
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 92.1%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G T 16: 20,190,930 (GRCm39) Q807K probably benign Het
Amfr T C 8: 94,709,948 (GRCm39) H419R probably benign Het
Atp8b2 A T 3: 89,852,459 (GRCm39) F866I probably damaging Het
Atxn7l3 G A 11: 102,182,705 (GRCm39) probably benign Het
Bcs1l A G 1: 74,629,264 (GRCm39) probably benign Het
Card11 G A 5: 140,872,890 (GRCm39) R608C probably damaging Het
Celf2 C A 2: 6,629,489 (GRCm39) K137N probably damaging Het
Cmya5 A T 13: 93,231,874 (GRCm39) Y1071* probably null Het
Cyp2d10 A G 15: 82,287,217 (GRCm39) F469L possibly damaging Het
Cyp3a41a A G 5: 145,654,733 (GRCm39) probably null Het
Dnah8 A T 17: 30,958,631 (GRCm39) I2158L probably damaging Het
Dtnb T A 12: 3,639,156 (GRCm39) probably null Het
Dync1h1 T C 12: 110,609,563 (GRCm39) F2782L probably damaging Het
Ednrb A G 14: 104,054,516 (GRCm39) Y439H probably damaging Het
Ferd3l T C 12: 33,978,748 (GRCm39) V87A probably benign Het
Gphn T A 12: 78,579,467 (GRCm39) S320T probably benign Het
Gpr39 C T 1: 125,800,349 (GRCm39) H367Y probably damaging Het
Hspa4l A T 3: 40,736,125 (GRCm39) N582I possibly damaging Het
Ighv1-85 A T 12: 115,963,836 (GRCm39) W55R probably damaging Het
Lelp1 A C 3: 92,042,714 (GRCm39) C112G unknown Het
Lrba A G 3: 86,192,331 (GRCm39) M82V possibly damaging Het
Macrod2 C A 2: 141,652,549 (GRCm39) T204K probably damaging Het
Map2 A T 1: 66,455,714 (GRCm39) probably benign Het
Ncor1 T C 11: 62,235,513 (GRCm39) K647R probably damaging Het
Nr4a3 A T 4: 48,056,699 (GRCm39) Y417F probably damaging Het
Nup50l G A 6: 96,142,933 (GRCm39) T37I possibly damaging Het
Obox7 C A 7: 14,398,122 (GRCm39) S54* probably null Het
Or2n1c A G 17: 38,519,174 (GRCm39) I13V probably benign Het
Or52r1c T G 7: 102,735,501 (GRCm39) Y254D probably damaging Het
Or8b101 T C 9: 38,020,740 (GRCm39) S253P probably damaging Het
Or9g20 T A 2: 85,630,342 (GRCm39) I91L probably benign Het
Pappa2 A T 1: 158,662,488 (GRCm39) Y1162* probably null Het
Pcdhb19 T A 18: 37,630,442 (GRCm39) I79K probably benign Het
Pi4k2a C T 19: 42,079,370 (GRCm39) Q144* probably null Het
Pigc T A 1: 161,798,663 (GRCm39) M215K probably benign Het
Pnma8a T A 7: 16,694,150 (GRCm39) S2T probably damaging Het
Ppfia4 T C 1: 134,237,398 (GRCm39) E967G probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rims3 A G 4: 120,740,352 (GRCm39) T100A probably damaging Het
Serpinb9 A T 13: 33,192,002 (GRCm39) N61I possibly damaging Het
Sis A G 3: 72,850,856 (GRCm39) M614T probably benign Het
Slc6a17 C T 3: 107,400,401 (GRCm39) V243I probably benign Het
Smad9 A T 3: 54,693,602 (GRCm39) Y177F probably benign Het
Vmn2r69 T C 7: 85,061,029 (GRCm39) D185G probably damaging Het
Vps36 G T 8: 22,682,899 (GRCm39) V5L probably benign Het
Vwa8 T A 14: 79,300,136 (GRCm39) probably benign Het
Other mutations in 1700012B07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01916:1700012B07Rik APN 11 109,684,937 (GRCm39) missense probably damaging 0.99
IGL03006:1700012B07Rik APN 11 109,718,671 (GRCm39) missense probably damaging 0.98
R0626:1700012B07Rik UTSW 11 109,679,547 (GRCm39) unclassified probably benign
R1566:1700012B07Rik UTSW 11 109,679,632 (GRCm39) missense probably benign 0.01
R1654:1700012B07Rik UTSW 11 109,688,225 (GRCm39) missense probably benign 0.36
R2373:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R2405:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R2410:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R2411:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R3707:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R3732:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R3745:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R3783:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R3784:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R3785:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R3805:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R3806:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R3922:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R3926:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R4085:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R4089:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R4110:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R4111:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R4112:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R4171:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R4506:1700012B07Rik UTSW 11 109,685,087 (GRCm39) missense probably damaging 1.00
R4825:1700012B07Rik UTSW 11 109,682,498 (GRCm39) missense probably benign 0.00
R5032:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R5033:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R5971:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R6078:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R6079:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R6138:1700012B07Rik UTSW 11 109,684,980 (GRCm39) nonsense probably null
R6354:1700012B07Rik UTSW 11 109,685,042 (GRCm39) missense probably benign 0.33
R8752:1700012B07Rik UTSW 11 109,704,396 (GRCm39) missense probably damaging 0.99
R9288:1700012B07Rik UTSW 11 109,704,444 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TCCTCTGTAGATAATGAGTCCGG -3'
(R):5'- CAGCTTGTCTAACGAAGCACC -3'

Sequencing Primer
(F):5'- TCCGGAGAATAGATGCTTGCCAATC -3'
(R):5'- ACCCATGCAAACTGGTCCTTTG -3'
Posted On 2015-01-23