Incidental Mutation 'R3707:1700012B07Rik'
ID 258758
Institutional Source Beutler Lab
Gene Symbol 1700012B07Rik
Ensembl Gene ENSMUSG00000020617
Gene Name RIKEN cDNA 1700012B07 gene
Synonyms
MMRRC Submission 040700-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R3707 (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: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 97% (37/38)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Avpr1a T A 10: 122,285,014 (GRCm39) F102Y probably damaging Het
Bcs1l A G 1: 74,629,264 (GRCm39) probably benign Het
Chrng C T 1: 87,138,333 (GRCm39) Q375* probably null Het
Cplane1 T C 15: 8,289,300 (GRCm39) S2917P unknown Het
Cyp2d10 A G 15: 82,287,217 (GRCm39) F469L possibly damaging Het
Dennd6a T C 14: 26,313,546 (GRCm39) probably benign Het
Eef2k C A 7: 120,483,935 (GRCm39) L224I probably damaging Het
Gm10033 G C 8: 69,825,068 (GRCm39) noncoding transcript Het
Gm11545 T C 11: 94,648,385 (GRCm39) noncoding transcript Het
Herpud1 T A 8: 95,118,867 (GRCm39) V207D probably damaging Het
Hmbox1 T C 14: 65,134,285 (GRCm39) Y105C probably benign Het
Ighv1-85 A T 12: 115,963,836 (GRCm39) W55R probably damaging Het
Lgr4 T C 2: 109,801,099 (GRCm39) L83P probably damaging Het
Lrch1 C T 14: 75,095,437 (GRCm39) M134I probably damaging Het
Macrod2 C A 2: 141,652,549 (GRCm39) T204K probably damaging Het
Mtg1 A T 7: 139,729,717 (GRCm39) K269M probably damaging Het
Nkain3 A T 4: 20,484,920 (GRCm39) F52L possibly damaging Het
Nr4a3 A T 4: 48,056,699 (GRCm39) Y417F probably damaging Het
Or12e10 T C 2: 87,640,520 (GRCm39) C119R probably damaging Het
Or6c8 T A 10: 128,915,254 (GRCm39) I193F probably benign Het
Pappa2 A T 1: 158,662,488 (GRCm39) Y1162* probably null Het
Pdhb T C 14: 8,170,409 (GRCm38) N114S probably damaging Het
Pigc T A 1: 161,798,663 (GRCm39) M215K probably benign Het
Pimreg G A 11: 71,937,158 (GRCm39) probably benign Het
Ppfia4 T C 1: 134,237,398 (GRCm39) E967G probably damaging Het
Resf1 C T 6: 149,230,611 (GRCm39) S1219L probably damaging Het
Rif1 T A 2: 51,983,592 (GRCm39) D578E probably damaging Het
Rrbp1 G T 2: 143,795,197 (GRCm39) A1269E probably benign Het
Rufy3 G A 5: 88,790,891 (GRCm39) A531T probably benign Het
Slc22a22 C A 15: 57,114,369 (GRCm39) L319F probably damaging Het
Tapbpl A G 6: 125,201,658 (GRCm39) probably null Het
Tdrd1 T C 19: 56,854,425 (GRCm39) S1124P possibly damaging Het
Top2a T C 11: 98,887,651 (GRCm39) K1286E probably benign Het
Top2b T C 14: 16,388,447 (GRCm38) V188A probably damaging Het
Vmn2r4 A T 3: 64,296,895 (GRCm39) I630N probably damaging Het
Vmn2r53 T C 7: 12,315,981 (GRCm39) T613A possibly damaging Het
Zbtb40 A G 4: 136,726,879 (GRCm39) Y486H probably damaging Het
Zfp715 T C 7: 42,960,553 (GRCm39) T13A probably benign Het
Zfx A G X: 93,142,413 (GRCm39) V36A possibly damaging 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
R3708:1700012B07Rik 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'- CGGAGAATAGATGCTTGCCAATC -3'
(R):5'- AGAGCTGCCTCCTGTAGAGTAC -3'

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