Incidental Mutation 'P0005:4933406M09Rik'
ID7635
Institutional Source Beutler Lab
Gene Symbol 4933406M09Rik
Ensembl Gene ENSMUSG00000050526
Gene NameRIKEN cDNA 4933406M09 gene
Synonyms
MMRRC Submission 038262-MU
Accession Numbers

NCBI RefSeq: NM_173771.4; MGI: 3045320

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #P0005 (G1)
Quality Score
Status Validated
Chromosome1
Chromosomal Location134385940-134390981 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 134387908 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 15 (M15K)
Ref Sequence ENSEMBL: ENSMUSP00000124251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000162187]
Predicted Effect probably benign
Transcript: ENSMUST00000162187
AA Change: M15K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124251
Gene: ENSMUSG00000050526
AA Change: M15K

DomainStartEndE-ValueType
Pfam:Glyco_transf_54 52 326 7.6e-79 PFAM
low complexity region 395 405 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 85.5%
  • 3x: 80.5%
  • 10x: 66.1%
  • 20x: 49.6%
Validation Efficiency 95% (104/109)
Allele List at MGI

All alleles(6) : Targeted(2) Gene trapped(4)

 

Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a1 T C 8: 69,803,747 V845A possibly damaging Het
C87499 A G 4: 88,627,950 L385P probably damaging Het
Casp6 T C 3: 129,912,143 V153A probably benign Het
Col6a1 A G 10: 76,717,329 probably benign Het
Dars2 A G 1: 161,053,939 probably null Het
Hmgcll1 T A 9: 76,074,759 M162K possibly damaging Het
Hydin A T 8: 110,494,289 probably null Het
Ift74 A G 4: 94,662,576 probably benign Het
Itpr1 A T 6: 108,381,257 I595F probably damaging Het
Mmp17 T C 5: 129,596,631 V258A probably benign Het
Nek6 T C 2: 38,569,737 probably null Het
Nomo1 A T 7: 46,037,557 probably null Het
Nudt3 A G 17: 27,596,715 probably benign Het
Prkg2 A C 5: 98,969,947 F512V probably damaging Het
Ptp4a3 T A 15: 73,755,311 D72E possibly damaging Het
Rpgrip1l A T 8: 91,299,225 probably benign Het
Rrp9 G A 9: 106,481,177 R101H probably benign Het
Slc7a6os T C 8: 106,204,522 I161V probably benign Het
Tex15 T C 8: 33,570,868 F109L probably benign Het
Tns2 A G 15: 102,114,056 Q1188R probably damaging Het
Other mutations in 4933406M09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01554:4933406M09Rik APN 1 134389958 missense probably damaging 1.00
IGL01862:4933406M09Rik APN 1 134390611 missense probably benign 0.03
R0498:4933406M09Rik UTSW 1 134390872 missense possibly damaging 0.69
R0563:4933406M09Rik UTSW 1 134390039 missense probably benign 0.00
R0731:4933406M09Rik UTSW 1 134389975 missense probably benign
R1558:4933406M09Rik UTSW 1 134390774 missense probably damaging 1.00
R2146:4933406M09Rik UTSW 1 134390513 missense probably damaging 1.00
R2148:4933406M09Rik UTSW 1 134390513 missense probably damaging 1.00
R2901:4933406M09Rik UTSW 1 134390924 missense probably damaging 0.99
R3897:4933406M09Rik UTSW 1 134390438 missense possibly damaging 0.92
R4543:4933406M09Rik UTSW 1 134389793 missense probably benign 0.31
R4937:4933406M09Rik UTSW 1 134389976 missense probably benign 0.00
R5490:4933406M09Rik UTSW 1 134389928 missense probably damaging 1.00
R5684:4933406M09Rik UTSW 1 134389922 missense probably benign 0.04
R5823:4933406M09Rik UTSW 1 134390917 missense probably damaging 0.98
R6488:4933406M09Rik UTSW 1 134390888 missense probably damaging 1.00
R7177:4933406M09Rik UTSW 1 134390425 missense probably benign 0.08
R7201:4933406M09Rik UTSW 1 134390468 missense possibly damaging 0.69
Posted On2012-10-05