Incidental Mutation 'R3785:1700012B07Rik'
ID 272227
Institutional Source Beutler Lab
Gene Symbol 1700012B07Rik
Ensembl Gene ENSMUSG00000020617
Gene Name RIKEN cDNA 1700012B07 gene
Synonyms
MMRRC Submission 040752-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R3785 (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: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 95% (38/40)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,521,887 (GRCm39) probably null Het
Aak1 T C 6: 86,942,560 (GRCm39) F701S unknown Het
Arid2 T A 15: 96,270,439 (GRCm39) D1517E possibly damaging Het
Cyp2r1 C T 7: 114,153,931 (GRCm39) V88I possibly damaging Het
Dennd3 T C 15: 73,419,426 (GRCm39) V739A possibly damaging Het
Dnah11 G T 12: 117,981,337 (GRCm39) Q2610K probably damaging Het
Gm5698 T C 1: 31,016,560 (GRCm39) T164A probably benign Het
Gpt2 G T 8: 86,252,202 (GRCm39) V506L probably benign Het
Gpx6 A G 13: 21,497,956 (GRCm39) T76A probably benign Het
Htra3 A T 5: 35,828,472 (GRCm39) L136H probably benign Het
Ifitm10 G A 7: 141,882,335 (GRCm39) T145I possibly damaging Het
Inpp5k T C 11: 75,538,512 (GRCm39) L461P probably damaging Het
Kcnd3 C A 3: 105,575,541 (GRCm39) T555K possibly damaging Het
Kif13b C T 14: 65,037,849 (GRCm39) T1505I probably benign Het
Mcf2l G T 8: 12,930,099 (GRCm39) G40C probably damaging Het
Mettl3 A T 14: 52,537,363 (GRCm39) I102N probably benign Het
Muc5b C T 7: 141,418,853 (GRCm39) T3933I possibly damaging Het
Mus81 G A 19: 5,535,389 (GRCm39) probably benign Het
Myo15a A T 11: 60,368,398 (GRCm39) Y386F probably damaging Het
Mypn C A 10: 63,028,961 (GRCm39) R34L probably benign Het
Neurod1 T A 2: 79,284,939 (GRCm39) N148I probably damaging Het
Or4f56 T C 2: 111,703,831 (GRCm39) Y123C probably damaging Het
Or8g32 T C 9: 39,305,678 (GRCm39) V197A probably benign Het
Or9g3 G A 2: 85,589,797 (GRCm39) P308S probably benign Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rnf5 A G 17: 34,820,906 (GRCm39) probably null Het
Sacs C A 14: 61,421,410 (GRCm39) Q116K probably damaging Het
Sall4 A G 2: 168,598,043 (GRCm39) S266P probably damaging Het
Senp6 T G 9: 79,999,568 (GRCm39) I74S probably benign Het
Slc13a4 T A 6: 35,264,827 (GRCm39) T131S probably damaging Het
Slc9a4 C A 1: 40,623,130 (GRCm39) P123Q probably damaging Het
Stxbp4 T A 11: 90,426,441 (GRCm39) probably null Het
Swt1 T C 1: 151,255,155 (GRCm39) D814G probably benign Het
Synrg T C 11: 83,892,746 (GRCm39) F613S probably damaging Het
Tekt1 A G 11: 72,235,720 (GRCm39) I376T probably damaging Het
Ttbk2 A T 2: 120,604,296 (GRCm39) probably benign Het
Txnl4b C T 8: 110,299,409 (GRCm39) A123V probably damaging Het
Wap G A 11: 6,588,550 (GRCm39) Q25* probably null Het
Zfp26 A T 9: 20,349,098 (GRCm39) C489S probably damaging Het
Zfp804b G A 5: 6,820,153 (GRCm39) T934M possibly damaging 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
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'- TTCCTCTGTAGATAATGAGTCCGG -3'
(R):5'- AGCTTGTCTAACGAAGCACCC -3'

Sequencing Primer
(F):5'- TCCGGAGAATAGATGCTTGCCAATC -3'
(R):5'- ACCCATGCAAACTGGTCCTTTG -3'
Posted On 2015-03-25