Incidental Mutation 'R5056:1700030J22Rik'
ID 390851
Institutional Source Beutler Lab
Gene Symbol 1700030J22Rik
Ensembl Gene ENSMUSG00000031847
Gene Name RIKEN cDNA 1700030J22 gene
Synonyms
MMRRC Submission 042646-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R5056 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 117696333-117705698 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 117698421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 229 (K229*)
Ref Sequence ENSEMBL: ENSMUSP00000148789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070577] [ENSMUST00000213068]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000070577
AA Change: K229*
SMART Domains Protein: ENSMUSP00000070601
Gene: ENSMUSG00000031847
AA Change: K229*

DomainStartEndE-ValueType
Pfam:DUF4529 1 409 7.5e-188 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000213068
AA Change: K229*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.2%
Validation Efficiency 99% (73/74)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora2a T A 10: 75,161,992 (GRCm39) S44T probably damaging Het
Agap3 T C 5: 24,682,860 (GRCm39) V459A probably damaging Het
Apc2 T C 10: 80,137,148 (GRCm39) V31A probably benign Het
Asic2 T A 11: 80,862,429 (GRCm39) K189N possibly damaging Het
Bbs10 C T 10: 111,136,401 (GRCm39) P505S probably benign Het
Brd10 A T 19: 29,694,759 (GRCm39) I1578K probably benign Het
Cdh20 G T 1: 104,881,722 (GRCm39) V396L probably benign Het
Cenpb C T 2: 131,020,091 (GRCm39) probably benign Het
Chil6 T A 3: 106,301,659 (GRCm39) Y147F probably damaging Het
Cluh C T 11: 74,552,772 (GRCm39) R606C probably damaging Het
Cmtr1 A G 17: 29,909,302 (GRCm39) T404A possibly damaging Het
Cnot1 T C 8: 96,467,636 (GRCm39) N1499S probably damaging Het
Dmkn T C 7: 30,463,529 (GRCm39) S61P probably damaging Het
Dmxl1 T C 18: 50,003,990 (GRCm39) C872R probably benign Het
Dnah3 A G 7: 119,620,169 (GRCm39) Y1587H probably damaging Het
Dsc2 A T 18: 20,183,199 (GRCm39) V73D probably damaging Het
F5 A T 1: 164,019,601 (GRCm39) Y692F possibly damaging Het
Fam184a A T 10: 53,550,670 (GRCm39) L80I probably damaging Het
Foxj2 A G 6: 122,810,833 (GRCm39) H271R probably benign Het
Grm7 A G 6: 111,057,404 (GRCm39) T335A probably damaging Het
Hspa9 A G 18: 35,071,734 (GRCm39) L622P probably damaging Het
Kcna7 G A 7: 45,056,015 (GRCm39) R77H probably damaging Het
Kcnd3 T A 3: 105,574,244 (GRCm39) probably benign Het
Klhdc8b ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC 9: 108,326,184 (GRCm39) probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrch4 C G 5: 137,635,113 (GRCm39) N237K probably damaging Het
Lss T G 10: 76,388,760 (GRCm39) probably null Het
Map6 T C 7: 98,985,859 (GRCm39) F588L probably benign Het
Mbd6 C T 10: 127,122,310 (GRCm39) V173I probably benign Het
Med13 A T 11: 86,219,391 (GRCm39) S352T probably benign Het
Mettl16 T A 11: 74,707,766 (GRCm39) V320E probably benign Het
Myh7b G C 2: 155,474,293 (GRCm39) R1669S possibly damaging Het
Nup188 T A 2: 30,194,143 (GRCm39) D149E probably damaging Het
Ogfrl1 A G 1: 23,418,130 (GRCm39) S83P probably damaging Het
Or52l1 T A 7: 104,829,779 (GRCm39) H262L probably damaging Het
Or5m13 T A 2: 85,748,480 (GRCm39) D70E probably damaging Het
Or8k36-ps1 T A 2: 86,437,364 (GRCm39) I184F unknown Het
Or9m1 T C 2: 87,733,915 (GRCm39) Y35C probably damaging Het
Pafah1b3 C T 7: 24,994,764 (GRCm39) R98Q probably damaging Het
Pde6b A T 5: 108,571,357 (GRCm39) K437* probably null Het
Ppp1r12b A T 1: 134,762,130 (GRCm39) probably benign Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Pramel34 T C 5: 93,786,784 (GRCm39) probably benign Het
Prdm9 T C 17: 15,782,679 (GRCm39) Q104R possibly damaging Het
Rgs22 A T 15: 36,050,391 (GRCm39) probably null Het
Rnf14 C T 18: 38,441,441 (GRCm39) P277L probably damaging Het
Robo4 T C 9: 37,316,102 (GRCm39) S258P probably benign Het
Sfrp1 T A 8: 23,907,420 (GRCm39) F207I probably damaging Het
Sgms1 A G 19: 32,137,087 (GRCm39) S160P probably damaging Het
Sil1 T C 18: 35,402,755 (GRCm39) K263R probably benign Het
St14 A G 9: 31,008,847 (GRCm39) probably null Het
Syne2 A G 12: 75,955,905 (GRCm39) probably benign Het
Tbc1d9 T C 8: 83,995,835 (GRCm39) S1013P probably benign Het
Tent5b C T 4: 133,207,749 (GRCm39) R47W possibly damaging Het
Tmem67 T C 4: 12,070,471 (GRCm39) S352G probably benign Het
Trib2 C A 12: 15,843,795 (GRCm39) K282N possibly damaging Het
Trnau1ap T C 4: 132,054,482 (GRCm39) probably benign Het
Trpm4 T C 7: 44,958,054 (GRCm39) D952G probably damaging Het
Unc93b1 A G 19: 3,992,762 (GRCm39) N305D possibly damaging Het
Usp32 A G 11: 84,917,621 (GRCm39) V802A probably benign Het
Vmn2r48 T A 7: 9,676,251 (GRCm39) H410L probably damaging Het
Wfs1 T C 5: 37,132,931 (GRCm39) N116S probably benign Het
Wif1 A T 10: 120,935,684 (GRCm39) H333L probably benign Het
Zfp109 T C 7: 23,928,162 (GRCm39) T416A possibly damaging Het
Zfp808 T A 13: 62,320,444 (GRCm39) C558S probably damaging Het
Zpbp T C 11: 11,409,734 (GRCm39) D116G possibly damaging Het
Other mutations in 1700030J22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:1700030J22Rik APN 8 117,700,279 (GRCm39) missense probably damaging 0.99
IGL03197:1700030J22Rik APN 8 117,698,541 (GRCm39) missense probably damaging 0.96
R1372:1700030J22Rik UTSW 8 117,698,696 (GRCm39) missense possibly damaging 0.62
R2170:1700030J22Rik UTSW 8 117,697,896 (GRCm39) missense probably damaging 1.00
R4893:1700030J22Rik UTSW 8 117,697,904 (GRCm39) missense probably damaging 1.00
R5089:1700030J22Rik UTSW 8 117,698,672 (GRCm39) missense possibly damaging 0.55
R7380:1700030J22Rik UTSW 8 117,700,376 (GRCm39) missense probably benign 0.25
R8935:1700030J22Rik UTSW 8 117,698,181 (GRCm39) missense probably benign 0.05
R9241:1700030J22Rik UTSW 8 117,697,937 (GRCm39) missense probably damaging 1.00
R9310:1700030J22Rik UTSW 8 117,698,859 (GRCm39) missense possibly damaging 0.61
Z1176:1700030J22Rik UTSW 8 117,700,336 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- AAGGCAGTACGTTGGTGAC -3'
(R):5'- GCAGTCTAACAAACTCTGCATTCC -3'

Sequencing Primer
(F):5'- TGACCTTCACGTGGCTGG -3'
(R):5'- ATTCCCACCGACGTGCATG -3'
Posted On 2016-06-06