Incidental Mutation 'R4111:1700012B07Rik'
ID 317325
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 # R4111 (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: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot10 A T 15: 20,666,612 (GRCm39) L43Q probably damaging Het
Alms1 G A 6: 85,597,870 (GRCm39) V1368I probably benign Het
Ambra1 T C 2: 91,730,903 (GRCm39) S894P probably damaging Het
Arhgef12 C A 9: 42,883,570 (GRCm39) G1320C probably damaging Het
Atg7 G C 6: 114,690,255 (GRCm39) G596R probably damaging Het
Birc6 T C 17: 74,873,010 (GRCm39) V423A probably damaging Het
Bltp3a T A 17: 28,105,064 (GRCm39) L586* probably null Het
Cdh17 T C 4: 11,814,628 (GRCm39) S728P probably damaging Het
Ctu2 G A 8: 123,203,256 (GRCm39) R24Q possibly damaging Het
Dclk3 T C 9: 111,298,148 (GRCm39) I564T probably damaging Het
Ddx39b T A 17: 35,462,340 (GRCm39) I42N possibly damaging Het
Defa39 T C 8: 22,192,679 (GRCm39) T106A possibly damaging Het
Dip2c G T 13: 9,687,137 (GRCm39) G1254C probably damaging Het
Dzip1 T A 14: 119,114,645 (GRCm39) K837* probably null Het
Epha1 G A 6: 42,335,772 (GRCm39) T955M possibly damaging Het
Etfbkmt T C 6: 149,046,089 (GRCm39) probably benign Het
Etfrf1 T C 6: 145,161,098 (GRCm39) Y23H probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Gm5611 T A 9: 16,941,989 (GRCm39) noncoding transcript Het
Gpr37l1 T C 1: 135,095,008 (GRCm39) T79A possibly damaging Het
Hrh3 C A 2: 179,744,643 (GRCm39) R99L possibly damaging Het
Hyls1 T A 9: 35,472,714 (GRCm39) Y234F probably damaging Het
Ifnar1 C A 16: 91,293,046 (GRCm39) P230T probably damaging Het
Impact T C 18: 13,109,090 (GRCm39) probably null Het
Kcna6 G C 6: 126,716,737 (GRCm39) R51G probably damaging Het
Lrpprc G A 17: 85,033,766 (GRCm39) T1037M probably benign Het
Or10g9 C A 9: 39,912,194 (GRCm39) E110* probably null Het
Or4a2 C A 2: 89,248,444 (GRCm39) L104F probably benign Het
Or5an6 T C 19: 12,371,665 (GRCm39) F13L probably damaging Het
Or6n2 T A 1: 173,896,999 (GRCm39) I45N probably damaging Het
Pask A G 1: 93,238,540 (GRCm39) V1315A probably damaging Het
Pramel16 T A 4: 143,676,475 (GRCm39) I210F possibly damaging Het
Prl7a2 A T 13: 27,849,050 (GRCm39) Y80N possibly damaging Het
Rhox3f G T X: 36,763,672 (GRCm39) E140* probably null Het
Rtn2 T C 7: 19,020,769 (GRCm39) S81P probably damaging Het
Sbf2 G A 7: 110,027,449 (GRCm39) P470S probably damaging Het
Sec31b G T 19: 44,512,968 (GRCm39) T507N possibly damaging Het
Sox30 A G 11: 45,908,041 (GRCm39) Y736C probably benign Het
Srsf3-ps A T 11: 98,516,223 (GRCm39) V50D probably damaging Het
Synj2 G A 17: 6,058,240 (GRCm39) G243S probably benign Het
Tbr1 C T 2: 61,642,076 (GRCm39) P184L probably benign Het
Tns1 T C 1: 73,981,091 (GRCm39) N1091S probably damaging Het
Trappc10 A G 10: 78,032,264 (GRCm39) F1008S probably benign Het
Ube4a T A 9: 44,860,247 (GRCm39) I272F probably damaging Het
Vmn1r122 A T 7: 20,867,438 (GRCm39) S206T probably damaging Het
Vmn2r1 A C 3: 63,997,176 (GRCm39) K277N probably benign Het
Vps13a T C 19: 16,617,992 (GRCm39) E2931G probably damaging Het
Wdr70 G T 15: 8,006,472 (GRCm39) Q360K probably benign Het
Wdr90 G T 17: 26,068,342 (GRCm39) Q1329K possibly damaging Het
Wrn T C 8: 33,842,183 (GRCm39) N37S probably benign Het
Yap1 A T 9: 7,938,432 (GRCm39) *358K probably null Het
Zfp964 T A 8: 70,116,754 (GRCm39) S450R probably benign Het
Zkscan2 T C 7: 123,081,907 (GRCm39) probably benign Het
Zmynd10 A T 9: 107,426,251 (GRCm39) K133* 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
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'- AGCTTGTCTAACGAAGCACC -3'

Sequencing Primer
(F):5'- TCCGGAGAATAGATGCTTGCCAATC -3'
(R):5'- ACCCATGCAAACTGGTCCTTTG -3'
Posted On 2015-05-15