Incidental Mutation 'IGL02554:4933408B17Rik'
ID298417
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4933408B17Rik
Ensembl Gene ENSMUSG00000049357
Gene NameRIKEN cDNA 4933408B17 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.202) question?
Stock #IGL02554
Quality Score
Status
Chromosome18
Chromosomal Location34579846-34597468 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 34593015 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 112 (S112P)
Ref Sequence ENSEMBL: ENSMUSP00000054234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056932] [ENSMUST00000129566]
Predicted Effect probably benign
Transcript: ENSMUST00000056932
AA Change: S112P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000054234
Gene: ENSMUSG00000049357
AA Change: S112P

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 probably benign
Transcript: ENSMUST00000129566
AA Change: S112P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000117272
Gene: ENSMUSG00000049357
AA Change: S112P

DomainStartEndE-ValueType
Blast:BROMO 20 197 5e-25 BLAST
SCOP:d1f68a_ 161 204 1e-7 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T A 11: 48,948,003 M586L probably damaging Het
Abcg3 T C 5: 104,969,452 D204G possibly damaging Het
Acox3 C A 5: 35,608,366 L588I probably damaging Het
Adamts9 G T 6: 92,880,847 L849I probably benign Het
Alkbh3 T G 2: 93,996,347 T170P probably damaging Het
Anks1b A T 10: 90,921,378 H300L probably damaging Het
Arhgap29 T C 3: 121,992,524 probably benign Het
Cd86 C T 16: 36,618,485 G181D probably benign Het
Cep68 A T 11: 20,240,096 H305Q possibly damaging Het
Clptm1l A T 13: 73,607,760 D165V probably benign Het
Dctn1 T C 6: 83,182,722 Y61H probably damaging Het
Dnah7a A T 1: 53,618,046 M857K possibly damaging Het
Gpr158 A G 2: 21,826,596 M836V probably benign Het
Gria1 G T 11: 57,289,488 A755S possibly damaging Het
Helb G A 10: 120,089,712 T920M probably damaging Het
Hr T C 14: 70,559,866 probably benign Het
Igf2bp1 A G 11: 95,974,168 S152P probably damaging Het
Iqsec1 T C 6: 90,669,345 Y784C probably damaging Het
Ldah T A 12: 8,283,935 C275* probably null Het
Lpin3 T C 2: 160,896,787 S220P probably damaging Het
Med23 T C 10: 24,898,575 probably null Het
Mllt1 T C 17: 56,899,806 D346G probably benign Het
Myef2 A C 2: 125,100,425 probably null Het
Myh2 A G 11: 67,189,165 S1095G probably benign Het
Nav1 A G 1: 135,584,913 silent Het
Olfr512 A G 7: 108,713,742 M118V possibly damaging Het
Piwil2 G A 14: 70,391,486 probably benign Het
Pkhd1l1 T A 15: 44,578,500 F3612I probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
S100pbp A T 4: 129,181,851 probably null Het
Scnn1b T C 7: 121,917,523 I495T probably damaging Het
Sgo2b A C 8: 63,926,537 V1087G probably damaging Het
Sil1 A T 18: 35,348,733 V91E probably damaging Het
Slc5a4b A G 10: 76,110,851 I29T possibly damaging Het
Spink5 A T 18: 44,015,594 N908I probably benign Het
Svopl A C 6: 38,017,043 I351S probably damaging Het
Syngr3 A G 17: 24,686,328 V198A probably benign Het
Tbck C A 3: 132,751,192 Y622* probably null Het
Tex33 A G 15: 78,378,536 M245T possibly damaging Het
Tkt T A 14: 30,558,780 M56K probably damaging Het
Trip10 T C 17: 57,263,135 V544A probably damaging Het
Txndc16 T C 14: 45,172,538 E195G probably damaging Het
Vmn2r69 G A 7: 85,409,806 P516S probably damaging Het
Vmn2r74 T C 7: 85,957,373 N255S probably benign Het
Xpo4 T C 14: 57,590,088 T884A probably benign Het
Zdhhc2 A G 8: 40,462,114 N167S probably damaging Het
Other mutations in 4933408B17Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6670:4933408B17Rik UTSW 18 34586266 missense possibly damaging 0.56
R6727:4933408B17Rik UTSW 18 34580841 missense probably benign 0.41
Posted On2015-04-16