Incidental Mutation 'R2373:1700012B07Rik'
ID 248209
Institutional Source Beutler Lab
Gene Symbol 1700012B07Rik
Ensembl Gene ENSMUSG00000020617
Gene Name RIKEN cDNA 1700012B07 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R2373 (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: 98.4%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A T 7: 127,836,487 (GRCm39) D35E probably benign Het
9330159F19Rik A G 10: 29,101,039 (GRCm39) N471D probably benign Het
Ahctf1 A T 1: 179,623,361 (GRCm39) F86I probably damaging Het
Alpk1 T C 3: 127,473,457 (GRCm39) T849A probably benign Het
Arfgef1 A T 1: 10,244,367 (GRCm39) D965E probably damaging Het
Asxl1 A G 2: 153,243,820 (GRCm39) T1458A probably benign Het
Cdc42bpa A T 1: 179,939,349 (GRCm39) M876L possibly damaging Het
Celsr3 G A 9: 108,719,751 (GRCm39) R2450H probably benign Het
Col12a1 A T 9: 79,564,095 (GRCm39) V1710E probably benign Het
Corin G A 5: 72,496,381 (GRCm39) S524L probably damaging Het
Dennd2c A G 3: 103,064,158 (GRCm39) H658R probably damaging Het
Disp3 A G 4: 148,343,252 (GRCm39) V553A probably damaging Het
Dpm2 T C 2: 32,462,457 (GRCm39) F81S probably benign Het
Emc2 T A 15: 43,377,154 (GRCm39) I239N probably damaging Het
Fhip1a C T 3: 85,583,404 (GRCm39) W464* probably null Het
Fzd5 C T 1: 64,774,066 (GRCm39) G565D probably damaging Het
Gpld1 T C 13: 25,146,839 (GRCm39) F267S probably benign Het
Kif14 C A 1: 136,407,583 (GRCm39) A46E probably damaging Het
Mta3 G T 17: 84,091,730 (GRCm39) E179* probably null Het
Ninl T G 2: 150,822,037 (GRCm39) T22P probably damaging Het
Pcnx2 T C 8: 126,480,190 (GRCm39) N2039S probably damaging Het
Rc3h2 A G 2: 37,269,013 (GRCm39) S818P possibly damaging Het
Scn11a T A 9: 119,642,252 (GRCm39) E162D probably benign Het
Slc5a7 A T 17: 54,584,154 (GRCm39) W379R probably damaging Het
Sptb C T 12: 76,667,935 (GRCm39) V721M probably damaging Het
Vmn1r82 T A 7: 12,038,982 (GRCm39) V85E probably damaging Het
Vmn2r130 T C 17: 23,280,480 (GRCm39) I47T possibly damaging Het
Vmn2r93 T A 17: 18,518,665 (GRCm39) F41L 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
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
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'- TCCTCTGTAGATAATGAGTCCGG -3'
(R):5'- CAGCTTGTCTAACGAAGCACC -3'

Sequencing Primer
(F):5'- TCCGGAGAATAGATGCTTGCCAATC -3'
(R):5'- ACCCATGCAAACTGGTCCTTTG -3'
Posted On 2014-11-11