Incidental Mutation 'R4171:1700012B07Rik'
ID 318144
Institutional Source Beutler Lab
Gene Symbol 1700012B07Rik
Ensembl Gene ENSMUSG00000020617
Gene Name RIKEN cDNA 1700012B07 gene
Synonyms
MMRRC Submission 041011-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R4171 (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: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik A G 7: 27,265,109 (GRCm39) N87S probably benign Het
Apmap A G 2: 150,425,987 (GRCm39) V387A probably benign Het
B130024G19Rik C T 7: 70,038,454 (GRCm39) noncoding transcript Het
Cd200r1 A G 16: 44,613,127 (GRCm39) I244M probably damaging Het
Clic6 T C 16: 92,293,949 (GRCm39) probably benign Het
Col11a1 A G 3: 114,001,863 (GRCm39) D429G probably damaging Het
Dsg4 T A 18: 20,591,636 (GRCm39) Y458* probably null Het
Elapor1 G T 3: 108,368,259 (GRCm39) Q885K probably benign Het
Fbxl13 A G 5: 21,748,786 (GRCm39) Y378H probably benign Het
Ifi203 A C 1: 173,761,341 (GRCm39) probably benign Het
Ifna6 T C 4: 88,746,038 (GRCm39) V129A probably benign Het
Igkv3-4 G A 6: 70,649,324 (GRCm39) A108T probably damaging Het
Itga1 G A 13: 115,167,422 (GRCm39) Q165* probably null Het
Kdm4c T A 4: 74,199,135 (GRCm39) Y108N possibly damaging Het
Lap3 T C 5: 45,666,833 (GRCm39) S412P probably benign Het
Lrfn5 G A 12: 61,890,168 (GRCm39) V486I probably damaging Het
Mep1b A T 18: 21,228,163 (GRCm39) probably null Het
Mettl6 T C 14: 31,215,624 (GRCm39) N52S probably damaging Het
Nup54 A G 5: 92,565,343 (GRCm39) I458T possibly damaging Het
Or1e16 A C 11: 73,286,365 (GRCm39) L161R probably damaging Het
Or6c204 G A 10: 129,022,453 (GRCm39) A279V probably benign Het
Pecr A T 1: 72,315,428 (GRCm39) N107K probably damaging Het
Pnpla6 A G 8: 3,593,997 (GRCm39) Q1307R probably benign Het
Poll T C 19: 45,544,492 (GRCm39) K310E probably damaging Het
Rab29 A G 1: 131,795,475 (GRCm39) Q29R probably benign Het
Reg2 G A 6: 78,383,574 (GRCm39) G99D probably damaging Het
Rftn2 G A 1: 55,253,429 (GRCm39) S58L probably damaging Het
Rps6kb1 T C 11: 86,435,405 (GRCm39) E43G possibly damaging Het
Sdk2 T C 11: 113,757,815 (GRCm39) probably null Het
Slc38a6 T A 12: 73,397,326 (GRCm39) Y323N probably benign Het
Sp100 T C 1: 85,634,562 (GRCm39) S152P probably benign Het
Tmc5 A G 7: 118,248,810 (GRCm39) Y605C probably damaging Het
Txndc17 T C 11: 72,098,537 (GRCm39) Y30H probably damaging Het
Vmn1r44 T A 6: 89,870,996 (GRCm39) F247L probably damaging Het
Zbtb39 C T 10: 127,578,236 (GRCm39) T270I possibly damaging Het
Zfp512b G A 2: 181,232,391 (GRCm39) probably null Het
Zwilch T A 9: 64,065,997 (GRCm39) R255* 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
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
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'- CCGGAGAATAGATGCTTGCC -3'
(R):5'- AGCTGCCTCCTGTAGAGTAC -3'

Sequencing Primer
(F):5'- GCTTGCCAATCTAAGATACTGAG -3'
(R):5'- GTACAGCTTGTCTAACGAAGC -3'
Posted On 2015-06-10