Incidental Mutation 'R0036:1700028P14Rik'
ID 15423
Institutional Source Beutler Lab
Gene Symbol 1700028P14Rik
Ensembl Gene ENSMUSG00000033053
Gene Name RIKEN cDNA 1700028P14 gene
Synonyms
MMRRC Submission 038330-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.147) question?
Stock # R0036 (G1)
Quality Score
Status Validated
Chromosome 19
Chromosomal Location 23558760-23652812 bp(-) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 23616568 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000100516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035849] [ENSMUST00000104916]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000035849
AA Change: V70E
SMART Domains Protein: ENSMUSP00000048680
Gene: ENSMUSG00000033053
AA Change: V70E

DomainStartEndE-ValueType
Pfam:DUF4572 28 219 1.3e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000104916
SMART Domains Protein: ENSMUSP00000100516
Gene: ENSMUSG00000044424

DomainStartEndE-ValueType
Pfam:Ribosomal_S7e 5 189 2e-96 PFAM
Meta Mutation Damage Score 0.2522 question?
Coding Region Coverage
  • 1x: 79.1%
  • 3x: 69.3%
  • 10x: 43.3%
  • 20x: 23.5%
Validation Efficiency 91% (49/54)
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cfap44 A G 16: 44,439,069 E1098G possibly damaging Het
Ctsq C T 13: 61,037,671 probably null Het
Dock9 C T 14: 121,622,853 V886M probably damaging Het
Eaf2 T C 16: 36,800,658 Y224C probably benign Het
Eif5b T A 1: 38,019,111 S165T probably benign Het
Eln A G 5: 134,711,060 probably null Het
Jakmip1 A G 5: 37,134,304 K514R probably null Het
Myo1e T A 9: 70,341,308 W435R probably damaging Het
Nadsyn1 T C 7: 143,811,291 I226V probably benign Het
Nedd4l T C 18: 65,051,123 probably benign Het
Phrf1 T C 7: 141,261,780 M1435T probably damaging Het
Ppic A T 18: 53,409,192 I148N probably damaging Het
Sdr16c6 C A 4: 4,063,335 probably benign Het
Sgo2a T C 1: 58,015,628 S324P probably benign Het
Slf1 G T 13: 77,100,951 Q373K probably benign Het
Tfg G T 16: 56,690,995 Q324K probably benign Het
Wdr64 G T 1: 175,728,930 G248* probably null Het
Other mutations in 1700028P14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:1700028P14Rik APN 19 23652736 utr 5 prime probably benign
IGL01635:1700028P14Rik APN 19 23559015 missense probably damaging 0.98
IGL01999:1700028P14Rik APN 19 23592165 missense possibly damaging 0.93
IGL03011:1700028P14Rik APN 19 23652653 missense unknown
R0894:1700028P14Rik UTSW 19 23652698 missense unknown
R3898:1700028P14Rik UTSW 19 23593102 missense probably benign 0.07
R4771:1700028P14Rik UTSW 19 23558973 missense probably damaging 0.98
R8959:1700028P14Rik UTSW 19 23559021 missense possibly damaging 0.85
Posted On 2012-12-21