Incidental Mutation 'R2411:1700012B07Rik'
ID 250005
Institutional Source Beutler Lab
Gene Symbol 1700012B07Rik
Ensembl Gene ENSMUSG00000020617
Gene Name RIKEN cDNA 1700012B07 gene
Synonyms
MMRRC Submission 040376-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R2411 (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: 97.0%
  • 20x: 93.9%
Validation Efficiency 98% (42/43)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402D24Rik A G 1: 63,795,373 (GRCm39) probably benign Het
9030612E09Rik G T 10: 43,050,796 (GRCm39) R30L possibly damaging Het
Aadacl2 A G 3: 59,924,844 (GRCm39) D137G possibly damaging Het
Acad11 T G 9: 103,963,222 (GRCm39) probably benign Het
Acap1 A T 11: 69,776,311 (GRCm39) N229K probably damaging Het
Agbl1 A G 7: 76,369,898 (GRCm39) T666A probably damaging Het
Btbd16 T C 7: 130,391,954 (GRCm39) F160L probably damaging Het
Clock A C 5: 76,379,360 (GRCm39) H525Q probably benign Het
Col6a1 G T 10: 76,546,922 (GRCm39) Q767K unknown Het
Creld1 A G 6: 113,466,737 (GRCm39) H240R probably benign Het
Dlg4 G A 11: 69,932,755 (GRCm39) probably null Het
Fam204a A T 19: 60,187,870 (GRCm39) *237R probably null Het
Filip1 T A 9: 79,805,715 (GRCm39) N13I probably damaging Het
Gm14295 G T 2: 176,499,206 (GRCm39) A19S probably benign Het
Hddc3 A T 7: 79,993,341 (GRCm39) Q56L probably damaging Het
Hes6 A C 1: 91,340,986 (GRCm39) probably null Het
Hormad1 A G 3: 95,487,326 (GRCm39) D270G probably benign Het
Ifitm1 A G 7: 140,549,711 (GRCm39) probably null Het
Igbp1b A C 6: 138,634,871 (GRCm39) V191G probably damaging Het
Impg2 T A 16: 56,072,517 (GRCm39) N316K probably damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Lilra6 T C 7: 3,914,453 (GRCm39) Y566C probably damaging Het
Map4k4 A G 1: 40,046,656 (GRCm39) D775G probably damaging Het
Mtmr10 A T 7: 63,947,245 (GRCm39) K53N probably damaging Het
Mybpc2 G A 7: 44,155,662 (GRCm39) R864W probably damaging Het
Nckap1l C A 15: 103,391,995 (GRCm39) P810Q probably damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or14c44 T C 7: 86,062,290 (GRCm39) V281A possibly damaging Het
Or1ad1 A G 11: 50,875,758 (GRCm39) T77A probably damaging Het
Or4a27 C T 2: 88,559,741 (GRCm39) M67I probably benign Het
Ppp2r3c T C 12: 55,345,269 (GRCm39) K73R probably benign Het
Ptpru A T 4: 131,498,780 (GRCm39) F1311Y probably damaging Het
Ror2 G A 13: 53,284,980 (GRCm39) P144L possibly damaging Het
Setd2 A G 9: 110,379,497 (GRCm39) E1104G possibly damaging Het
St14 G A 9: 31,019,530 (GRCm39) T97I probably benign Het
Stag3 A G 5: 138,281,290 (GRCm39) probably benign Het
Sytl3 T C 17: 7,003,892 (GRCm39) S326P probably damaging Het
Tor1b G T 2: 30,845,824 (GRCm39) S167I probably damaging Het
Ttn T A 2: 76,568,359 (GRCm39) E27511D probably damaging Het
Uso1 T A 5: 92,306,258 (GRCm39) probably benign Het
Vmn1r10 G T 6: 57,091,124 (GRCm39) V239F probably benign Het
Vps35l G C 7: 118,391,818 (GRCm39) A410P probably damaging Het
Zfp160 C T 17: 21,246,007 (GRCm39) R186C possibly damaging Het
Zfp869 A G 8: 70,159,179 (GRCm39) C465R probably damaging Het
Zfp957 T C 14: 79,451,782 (GRCm39) K6E unknown 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
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'- CCTCTGTAGATAATGAGTCCGGAG -3'
(R):5'- ACAGCTTGTCTAACGAAGCAC -3'

Sequencing Primer
(F):5'- TCCGGAGAATAGATGCTTGCCAATC -3'
(R):5'- GCTTGTCTAACGAAGCACCCATG -3'
Posted On 2014-11-12