Incidental Mutation 'R6670:4933408B17Rik'
ID527121
Institutional Source Beutler Lab
Gene Symbol 4933408B17Rik
Ensembl Gene ENSMUSG00000049357
Gene NameRIKEN cDNA 4933408B17 gene
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.136) question?
Stock #R6670 (G1)
Quality Score225.009
Status Validated
Chromosome18
Chromosomal Location34579846-34597468 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 34586266 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 167 (V167A)
Ref Sequence ENSEMBL: ENSMUSP00000054234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056932] [ENSMUST00000129566]
Predicted Effect possibly damaging
Transcript: ENSMUST00000056932
AA Change: V167A

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000054234
Gene: ENSMUSG00000049357
AA Change: V167A

DomainStartEndE-ValueType
low complexity region 30 42 N/A INTRINSIC
low complexity region 47 65 N/A INTRINSIC
low complexity region 77 86 N/A INTRINSIC
BROMO 153 261 8.66e-35 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000129566
AA Change: V167A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117272
Gene: ENSMUSG00000049357
AA Change: V167A

DomainStartEndE-ValueType
Blast:BROMO 20 197 5e-25 BLAST
SCOP:d1f68a_ 161 204 1e-7 SMART
Meta Mutation Damage Score 0.4680 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 100% (38/38)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A G 19: 43,839,411 probably benign Het
Acsm3 T A 7: 119,780,755 probably null Het
AW551984 T C 9: 39,592,996 D558G probably damaging Het
Bcl9l GTGAACATGAACATGAACATGAAC GTGAACATGAACATGAACATGAACATGAAC 9: 44,507,072 probably benign Het
Ccdc12 T G 9: 110,708,527 probably null Het
Ctsl T C 13: 64,364,102 probably null Het
Cul1 T A 6: 47,517,134 D460E probably damaging Het
Dnttip2 T A 3: 122,276,221 S362T probably damaging Het
Fbxw16 T A 9: 109,438,212 D317V probably damaging Het
Fbxw9 T A 8: 85,062,210 N196K possibly damaging Het
Grap A G 11: 61,660,238 D32G probably damaging Het
Hhatl T C 9: 121,789,071 D206G probably damaging Het
Hrnr A T 3: 93,331,885 Q3143H unknown Het
Ighv1-62-1 T C 12: 115,386,909 Y46C probably damaging Het
Krtap16-3 A T 16: 88,962,652 Y58N unknown Het
Mef2c A G 13: 83,662,597 K384R probably damaging Het
Nalcn A G 14: 123,464,672 Y476H possibly damaging Het
Oxgr1 A T 14: 120,022,257 N179K probably damaging Het
Polk G A 13: 96,496,630 Q302* probably null Het
Rab3gap1 T A 1: 127,930,775 S540R probably benign Het
Samd5 A T 10: 9,629,064 probably null Het
Sema6d GTGATAC G 2: 124,654,842 probably benign Het
Slc1a6 C A 10: 78,787,812 A15D probably benign Het
Slc8a1 A G 17: 81,649,454 C52R probably damaging Het
Sod2 T A 17: 13,008,365 Y69N possibly damaging Het
Tank T C 2: 61,644,424 probably null Het
Tbc1d23 A T 16: 57,214,217 I73N probably benign Het
Tnf A C 17: 35,201,824 M6R possibly damaging Het
Trmt2a C T 16: 18,250,477 A16V possibly damaging Het
Ttn A G 2: 76,725,711 Y21990H probably damaging Het
Uaca C T 9: 60,872,024 S1231L probably benign Het
Ubr1 A G 2: 120,924,130 probably null Het
Unc13b A G 4: 43,255,562 D3849G probably damaging Het
Vmn2r75 T A 7: 86,148,436 D723V probably damaging Het
Wnt2 C A 6: 18,028,092 V48L possibly damaging Het
Other mutations in 4933408B17Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02554:4933408B17Rik APN 18 34593015 missense probably benign 0.01
R0110:4933408B17Rik UTSW 18 34596151 missense probably damaging 0.96
R0510:4933408B17Rik UTSW 18 34596151 missense probably damaging 0.96
R0633:4933408B17Rik UTSW 18 34586266 missense possibly damaging 0.56
R1138:4933408B17Rik UTSW 18 34580244 missense probably benign 0.09
R4768:4933408B17Rik UTSW 18 34580952 missense probably damaging 1.00
R6727:4933408B17Rik UTSW 18 34580841 missense probably benign 0.41
Predicted Primers PCR Primer
(F):5'- CTTCTATTTCCCTAAGGTTGGGATG -3'
(R):5'- ATGTGTAATTAGGAGCTCTATGGC -3'

Sequencing Primer
(F):5'- CAGCCAGTGTTTGCTAAACTCAG -3'
(R):5'- GCTTGAGAAAGCCTTATTACCC -3'
Posted On2018-07-23