Incidental Mutation 'R3805:1700012B07Rik'
ID 274564
Institutional Source Beutler Lab
Gene Symbol 1700012B07Rik
Ensembl Gene ENSMUSG00000020617
Gene Name RIKEN cDNA 1700012B07 gene
Synonyms
MMRRC Submission 040762-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R3805 (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: 99.3%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 GCGGCC GCGGCCGGCC 6: 140,589,675 (GRCm39) probably null Het
Ano5 T C 7: 51,226,398 (GRCm39) F584L probably benign Het
Ap1b1 T A 11: 4,983,225 (GRCm39) probably null Het
Bicd1 T A 6: 149,420,489 (GRCm39) L780M probably damaging Het
Ccdc138 T C 10: 58,397,819 (GRCm39) I553T possibly damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crct1 C A 3: 92,922,014 (GRCm39) probably benign Het
Ctu1 T C 7: 43,326,097 (GRCm39) L252P probably damaging Het
Dhrs2 A T 14: 55,472,205 (GRCm39) N32I probably benign Het
Dnah1 A T 14: 31,016,720 (GRCm39) M1599K possibly damaging Het
Eri2 A T 7: 119,385,231 (GRCm39) C423* probably null Het
Fam169a G A 13: 97,234,192 (GRCm39) V155I probably benign Het
Get4 G T 5: 139,238,286 (GRCm39) V23F probably damaging Het
Hdac3 A G 18: 38,078,745 (GRCm39) probably null Het
Herc3 C A 6: 58,893,835 (GRCm39) H970Q probably damaging Het
Htt A G 5: 35,034,548 (GRCm39) probably null Het
Ifit1 A G 19: 34,625,556 (GRCm39) I231V probably damaging Het
Lingo4 A G 3: 94,309,407 (GRCm39) D115G probably damaging Het
Lrrc7 T C 3: 157,891,130 (GRCm39) I346V probably benign Het
Map7d1 A T 4: 126,131,084 (GRCm39) probably null Het
Morf4l1 A G 9: 89,977,196 (GRCm39) S203P probably benign Het
Naaladl1 A G 19: 6,164,895 (GRCm39) T628A probably benign Het
Nlrp9a T A 7: 26,264,277 (GRCm39) C643* probably null Het
Or4ac1-ps1 A T 2: 88,370,700 (GRCm39) noncoding transcript Het
Or4b1 T G 2: 89,978,805 (GRCm39) probably benign Het
Oxtr T C 6: 112,454,147 (GRCm39) K39R probably benign Het
Ppp4r4 T A 12: 103,566,625 (GRCm39) M24K probably damaging Het
Ppp6r2 T C 15: 89,149,842 (GRCm39) F256L probably benign Het
Robo4 A T 9: 37,315,734 (GRCm39) D329V possibly damaging Het
Rsph10b G A 5: 143,895,206 (GRCm39) probably null Het
Slc9b2 T C 3: 135,030,349 (GRCm39) L222P probably damaging Het
Speer4a1 C T 5: 26,240,082 (GRCm39) E223K possibly damaging Het
St18 T A 1: 6,872,577 (GRCm39) L104H probably damaging Het
Tmem184c C A 8: 78,323,504 (GRCm39) D453Y unknown Het
Trpv1 A T 11: 73,143,879 (GRCm39) N237I probably damaging Het
Vmn2r77 T A 7: 86,444,368 (GRCm39) L7* 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
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
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 2015-04-02