Incidental Mutation 'R4085:1700012B07Rik'
ID 317099
Institutional Source Beutler Lab
Gene Symbol 1700012B07Rik
Ensembl Gene ENSMUSG00000020617
Gene Name RIKEN cDNA 1700012B07 gene
Synonyms
MMRRC Submission 040979-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R4085 (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: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (59/60)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,981,949 (GRCm39) V1088A probably damaging Het
Adgrl3 A G 5: 81,660,391 (GRCm39) I319V probably benign Het
Atraid A T 5: 31,209,650 (GRCm39) probably benign Het
Aurkaip1 A T 4: 155,917,362 (GRCm39) K172N probably benign Het
Bicd2 T A 13: 49,538,438 (GRCm39) probably null Het
Ccr1 C T 9: 123,763,987 (GRCm39) R181H probably benign Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Cldn34c4 A T X: 126,629,011 (GRCm39) V153E probably damaging Het
Col4a4 C A 1: 82,448,909 (GRCm39) probably null Het
Coro1b T C 19: 4,203,618 (GRCm39) V451A probably benign Het
Dcc T A 18: 71,959,240 (GRCm39) Q177H probably benign Het
Ddx4 A G 13: 112,750,295 (GRCm39) V386A probably benign Het
Dynlrb1 G T 2: 155,091,896 (GRCm39) probably benign Het
Ehbp1 A T 11: 22,045,898 (GRCm39) L592Q possibly damaging Het
Fam20b T C 1: 156,533,445 (GRCm39) D57G probably benign Het
Fbxo33 A G 12: 59,247,591 (GRCm39) probably benign Het
Fndc4 A G 5: 31,451,121 (GRCm39) I190T probably damaging Het
Gad1 G T 2: 70,420,192 (GRCm39) A359S probably benign Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm43517 A G 12: 49,437,897 (GRCm39) probably benign Het
Hectd1 A T 12: 51,821,533 (GRCm39) V1052D possibly damaging Het
Herc6 G A 6: 57,624,054 (GRCm39) C608Y probably benign Het
Itpr2 T A 6: 146,045,746 (GRCm39) D2573V probably damaging Het
Kank2 A G 9: 21,706,415 (GRCm39) L201P probably damaging Het
Kdm1a A C 4: 136,279,273 (GRCm39) Y762* probably null Het
Mef2c C T 13: 83,723,821 (GRCm39) T9M probably damaging Het
Ndst4 A G 3: 125,403,131 (GRCm39) I413V probably benign Het
Nlrp1b T C 11: 71,052,588 (GRCm39) T947A probably damaging Het
Nlrp5 C A 7: 23,129,523 (GRCm39) N863K probably damaging Het
Opn1sw A G 6: 29,380,143 (GRCm39) I91T possibly damaging Het
Or2y13 T C 11: 49,414,955 (GRCm39) I135T probably benign Het
Pmfbp1 A G 8: 110,221,579 (GRCm39) K15E possibly damaging Het
Ppp3cb A G 14: 20,558,611 (GRCm39) C484R possibly damaging Het
Rassf2 C A 2: 131,846,299 (GRCm39) G153C probably damaging Het
Rbm15b T C 9: 106,762,936 (GRCm39) N411D possibly damaging Het
Rbm47 A G 5: 66,180,080 (GRCm39) M409T probably benign Het
Sall1 C T 8: 89,755,137 (GRCm39) V1281M probably benign Het
Sall3 A T 18: 81,015,348 (GRCm39) M860K probably damaging Het
Sik2 A T 9: 50,846,685 (GRCm39) probably benign Het
Sim2 A G 16: 93,910,213 (GRCm39) Y205C possibly damaging Het
Styxl1 G A 5: 135,788,019 (GRCm39) T92I unknown Het
Sypl2 A G 3: 108,124,992 (GRCm39) I123T possibly damaging Het
Taok2 T C 7: 126,473,897 (GRCm39) E403G possibly damaging Het
Tedc2 A T 17: 24,438,813 (GRCm39) V168E probably benign Het
Tle6 A G 10: 81,430,349 (GRCm39) probably null Het
Traf3ip3 A G 1: 192,863,628 (GRCm39) V414A probably damaging Het
Trim14 T A 4: 46,523,709 (GRCm39) T110S probably benign Het
Ucp1 T C 8: 84,020,580 (GRCm39) I130T probably benign Het
Urb2 A G 8: 124,757,680 (GRCm39) H1129R probably benign Het
Vmn2r111 C T 17: 22,778,096 (GRCm39) G528R probably benign Het
Wbp2nl A G 15: 82,192,762 (GRCm39) M149V probably benign Het
Xdh A T 17: 74,223,874 (GRCm39) M506K 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
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
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'- TAAGATACTGAGTTAGGGGTTAGCG -3'
(R):5'- TCATCGATGAGAGGCATGAGC -3'

Sequencing Primer
(F):5'- AGCGTTAACCCTTTGCGAC -3'
(R):5'- AGAGCTGCCTCCTGTAGAGTAC -3'
Posted On 2015-05-15