Incidental Mutation 'R2405:1700012B07Rik'
ID 247970
Institutional Source Beutler Lab
Gene Symbol 1700012B07Rik
Ensembl Gene ENSMUSG00000020617
Gene Name RIKEN cDNA 1700012B07 gene
Synonyms
MMRRC Submission 040371-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R2405 (G1)
Quality Score 225
Status Not 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: 96.9%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 T C 2: 31,690,986 (GRCm39) L835P possibly damaging Het
Ascc3 T A 10: 50,607,774 (GRCm39) V1426D probably damaging Het
Ccny A G 18: 9,353,480 (GRCm39) Y98H probably benign Het
Ccser2 G A 14: 36,660,626 (GRCm39) T509M probably damaging Het
Crnkl1 A T 2: 145,770,077 (GRCm39) Y255* probably null Het
Cyp2d11 C T 15: 82,273,467 (GRCm39) S468N possibly damaging Het
Dnah7b C A 1: 46,402,114 (GRCm39) T3983N probably benign Het
Ebf1 T A 11: 44,882,349 (GRCm39) M427K probably damaging Het
Fxr1 T A 3: 34,116,003 (GRCm39) S438T probably damaging Het
Gabrr1 A T 4: 33,157,110 (GRCm39) D209V probably damaging Het
Gbx2 G T 1: 89,858,630 (GRCm39) probably benign Het
Gng14 A G 8: 85,794,270 (GRCm39) I56T possibly damaging Het
Gulo A G 14: 66,228,477 (GRCm39) probably null Het
Hhla1 A T 15: 65,808,160 (GRCm39) L295* probably null Het
Hmcn1 T A 1: 150,736,092 (GRCm39) I126L probably damaging Het
Hpse A G 5: 100,856,637 (GRCm39) S121P possibly damaging Het
Inpp5d A G 1: 87,627,451 (GRCm39) H321R possibly damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kdm5b T A 1: 134,536,754 (GRCm39) M658K probably damaging Het
Kidins220 A T 12: 25,061,508 (GRCm39) E875V probably damaging Het
Lrrc37 T C 11: 103,511,810 (GRCm39) M53V unknown Het
Nlrp4b A G 7: 10,448,655 (GRCm39) E286G probably benign Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Pde3a A T 6: 141,426,968 (GRCm39) I710F probably damaging Het
Phb1 T C 11: 95,566,094 (GRCm39) I126T probably benign Het
Ppp4r1 C T 17: 66,118,341 (GRCm39) T164I possibly damaging Het
Psmc1 G A 12: 100,086,362 (GRCm39) R333Q probably benign Het
Pygb A G 2: 150,662,695 (GRCm39) Y554C probably benign Het
Ror2 G A 13: 53,284,980 (GRCm39) P144L possibly damaging Het
Serpina3a A T 12: 104,087,577 (GRCm39) M357L possibly damaging Het
Serpinb9e T A 13: 33,444,063 (GRCm39) M361K probably benign Het
Sgms1 G A 19: 32,137,072 (GRCm39) R165* probably null Het
Slc15a2 G A 16: 36,572,199 (GRCm39) Q691* probably null Het
Slc25a25 C T 2: 32,307,731 (GRCm39) probably null Het
Slc34a2 A G 5: 53,215,523 (GRCm39) N9S probably benign Het
Slc4a2 A G 5: 24,640,599 (GRCm39) T665A probably damaging Het
Spef2 C A 15: 9,626,120 (GRCm39) E1149* probably null Het
Tmem179 A G 12: 112,468,347 (GRCm39) W45R probably damaging Het
Tmpo C A 10: 90,999,216 (GRCm39) K190N probably damaging Het
Triml1 T C 8: 43,583,320 (GRCm39) Y427C probably damaging Het
Trpm2 A G 10: 77,770,558 (GRCm39) L720P probably damaging Het
Vmn1r60 A G 7: 5,547,912 (GRCm39) Y63H probably benign Het
Vmn2r96 T A 17: 18,818,102 (GRCm39) C560S probably damaging Het
Vps35l G C 7: 118,391,818 (GRCm39) A410P probably damaging Het
Zdhhc13 A G 7: 48,472,478 (GRCm39) probably null 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
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
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 2014-11-11