Incidental Mutation 'R6060:1110057P08Rik'
ID 506193
Institutional Source Beutler Lab
Gene Symbol 1110057P08Rik
Ensembl Gene ENSMUSG00000068067
Gene Name RIKEN cDNA 1110057P08 gene
Synonyms
MMRRC Submission 044426-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R6060 (G1)
Quality Score 190.009
Status Validated
Chromosome 16
Chromosomal Location 88971680-88971826 bp(+) (GRCm39)
Type of Mutation splice site (94 bp from exon)
DNA Base Change (assembly) A to G at 88966630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000086499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089097] [ENSMUST00000089098]
AlphaFold Q3V4B6
Predicted Effect probably benign
Transcript: ENSMUST00000089097
Predicted Effect probably null
Transcript: ENSMUST00000089098
SMART Domains Protein: ENSMUSP00000086499
Gene: ENSMUSG00000068068

DomainStartEndE-ValueType
Pfam:KRTAP 1 46 1.6e-11 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 T C 3: 137,992,544 (GRCm39) I220T probably damaging Het
Ajap1 G A 4: 153,516,699 (GRCm39) T214I probably damaging Het
Ank2 A G 3: 126,749,601 (GRCm39) F476S probably damaging Het
Atp6v1g3 A G 1: 138,201,582 (GRCm39) K27E possibly damaging Het
BC034090 A G 1: 155,117,245 (GRCm39) I291T probably benign Het
Cnot9 T A 1: 74,556,285 (GRCm39) N27K probably benign Het
Cyp2c70 A T 19: 40,153,857 (GRCm39) L244* probably null Het
Cyp2d22 T C 15: 82,260,086 (GRCm39) T6A probably benign Het
D630045J12Rik T C 6: 38,107,799 (GRCm39) E1829G probably damaging Het
Dnajc4 G T 19: 6,968,093 (GRCm39) S61* probably null Het
Dpysl4 A G 7: 138,669,324 (GRCm39) M1V probably null Het
Fam149a T A 8: 45,811,799 (GRCm39) probably benign Het
Fam184b T C 5: 45,710,489 (GRCm39) E547G probably damaging Het
Fam47e T A 5: 92,727,472 (GRCm39) F127I possibly damaging Het
Ifi207 G A 1: 173,558,093 (GRCm39) T215I unknown Het
Iftap T C 2: 101,440,950 (GRCm39) K18E probably benign Het
Lpxn T C 19: 12,810,489 (GRCm39) L311P probably damaging Het
Lrp1b A T 2: 40,640,946 (GRCm39) N3499K Het
Mknk2 A T 10: 80,507,468 (GRCm39) D76E probably benign Het
Nectin2 A T 7: 19,451,700 (GRCm39) Y445N probably damaging Het
Ngb A C 12: 87,146,963 (GRCm39) S85A probably benign Het
Nrp1 C A 8: 129,224,419 (GRCm39) H727Q probably damaging Het
Or5b112 C T 19: 13,319,497 (GRCm39) A125V probably benign Het
Or6k2 C A 1: 173,986,907 (GRCm39) C189* probably null Het
Pold3 A C 7: 99,749,819 (GRCm39) Y115* probably null Het
Ppp1r12b C G 1: 134,883,262 (GRCm39) V87L probably benign Het
Ppp1r26 A G 2: 28,341,042 (GRCm39) N224S probably benign Het
Prl7a1 G A 13: 27,821,571 (GRCm39) P122S probably damaging Het
Rc3h2 T C 2: 37,289,612 (GRCm39) H400R possibly damaging Het
Rnf32 A T 5: 29,411,752 (GRCm39) I214L probably benign Het
Safb2 A T 17: 56,870,246 (GRCm39) probably null Het
Serpinb6e A G 13: 34,025,256 (GRCm39) C12R possibly damaging Het
Sh2b2 A T 5: 136,261,209 (GRCm39) N2K possibly damaging Het
Slc12a4 G A 8: 106,672,338 (GRCm39) A821V probably damaging Het
Slc41a1 A G 1: 131,767,972 (GRCm39) M179V probably benign Het
Slc9a3 A G 13: 74,299,004 (GRCm39) Y141C probably damaging Het
Tenm4 G A 7: 96,522,918 (GRCm39) V1450I probably damaging Het
Trmt1l A G 1: 151,333,331 (GRCm39) N642S possibly damaging Het
Ttll13 G A 7: 79,908,491 (GRCm39) R576H probably damaging Het
Zar1 T A 5: 72,738,272 (GRCm39) R43S probably benign Het
Zfp455 A G 13: 67,355,257 (GRCm39) Y175C probably damaging Het
Other mutations in 1110057P08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01503:1110057P08Rik APN 16 88,971,757 (GRCm39) nonsense probably null
IGL02584:1110057P08Rik APN 16 88,971,744 (GRCm39) missense unknown
IGL02822:1110057P08Rik APN 16 88,971,683 (GRCm39) missense unknown
R9199:1110057P08Rik UTSW 16 88,971,654 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- CAGAGGATATTATGGAGGCCTG -3'
(R):5'- ACAAGCGCACATTTGTACCC -3'

Sequencing Primer
(F):5'- CCTAGGCTGTGGCTATGGC -3'
(R):5'- GTCACAAACATGCACCTCACATTTAG -3'
Posted On 2018-03-08