Incidental Mutation 'R3922:1700012B07Rik'
ID 306990
Institutional Source Beutler Lab
Gene Symbol 1700012B07Rik
Ensembl Gene ENSMUSG00000020617
Gene Name RIKEN cDNA 1700012B07 gene
Synonyms
MMRRC Submission 040819-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R3922 (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: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik T A 2: 19,485,371 (GRCm39) E432V probably benign Het
Ahnak G A 19: 8,983,692 (GRCm39) D1659N probably benign Het
Arfgap2 C T 2: 91,105,150 (GRCm39) R405W probably damaging Het
Arhgef28 A G 13: 98,130,452 (GRCm39) L462P possibly damaging Het
Arid1b T C 17: 5,393,316 (GRCm39) V2282A probably damaging Het
Becn2 T C 1: 175,748,852 (GRCm39) V306A probably benign Het
Cdkl1 G T 12: 69,803,373 (GRCm39) R168S probably damaging Het
Cep70 T A 9: 99,157,632 (GRCm39) *117R probably null Het
Cnnm1 A G 19: 43,428,884 (GRCm39) M1V probably null Het
Cntrl A G 2: 35,019,751 (GRCm39) E526G probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Ddx59 T A 1: 136,344,482 (GRCm39) V51D probably benign Het
Dtd2 G C 12: 52,051,734 (GRCm39) probably null Het
Eea1 T A 10: 95,872,495 (GRCm39) N1068K probably benign Het
Egfr T A 11: 16,831,495 (GRCm39) C555S probably damaging Het
Esd A T 14: 74,980,667 (GRCm39) Q130H probably benign Het
Gpr89 A T 3: 96,798,215 (GRCm39) I147N probably damaging Het
H2-M10.1 T A 17: 36,636,577 (GRCm39) I76L probably benign Het
Lgi4 A T 7: 30,766,873 (GRCm39) D300V probably benign Het
Lrp1b C A 2: 40,567,593 (GRCm39) V276L unknown Het
Lrp2 T C 2: 69,336,720 (GRCm39) K1351E probably benign Het
Mroh8 T C 2: 157,064,731 (GRCm39) I782V probably benign Het
Msrb1 T C 17: 24,959,057 (GRCm39) S70P probably damaging Het
Nek10 T C 14: 14,861,585 (GRCm38) M547T possibly damaging Het
Or51ah3 T C 7: 103,209,912 (GRCm39) V76A probably benign Het
Or6c2b C A 10: 128,947,482 (GRCm39) V271F possibly damaging Het
Or9i2 T C 19: 13,816,130 (GRCm39) T136A probably damaging Het
P4htm T C 9: 108,460,094 (GRCm39) N227D probably benign Het
Plekhm2 T C 4: 141,356,843 (GRCm39) T787A probably benign Het
Pramel5 A G 4: 143,999,622 (GRCm39) L155P probably damaging Het
Sbno1 T C 5: 124,519,993 (GRCm39) Y1122C probably damaging Het
Scn9a T A 2: 66,357,217 (GRCm39) D1028V possibly damaging Het
Sft2d1 G T 17: 8,537,714 (GRCm39) L34F possibly damaging Het
Slc19a3 A T 1: 83,000,678 (GRCm39) F113Y probably damaging Het
Slc27a3 G T 3: 90,294,392 (GRCm39) H460N possibly damaging Het
Slc35g2 A T 9: 100,434,780 (GRCm39) I297N probably benign Het
Ssh1 T G 5: 114,080,769 (GRCm39) Q865P possibly damaging Het
Trp63 A G 16: 25,707,759 (GRCm39) D583G probably damaging Het
Usp28 T C 9: 48,942,223 (GRCm39) probably null Het
Wdr43 A G 17: 71,945,296 (GRCm39) probably benign Het
Zfhx4 A G 3: 5,465,707 (GRCm39) Y1955C probably damaging Het
Zfp108 G A 7: 23,960,773 (GRCm39) G455R probably damaging Het
Zfp353-ps A T 8: 42,536,049 (GRCm39) noncoding transcript 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
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'- ATTCCTCTGTAGATAATGAGTCCGG -3'
(R):5'- GCTTGTCTAACGAAGCACCC -3'

Sequencing Primer
(F):5'- TCCGGAGAATAGATGCTTGCCAATC -3'
(R):5'- ACCCATGCAAACTGGTCCTTTG -3'
Posted On 2015-04-17