Incidental Mutation 'R0002:A630095E13Rik'
ID8073
Institutional Source Beutler Lab
Gene Symbol A630095E13Rik
Ensembl Gene ENSMUSG00000070313
Gene NameRIKEN cDNA A630095E13 gene
SynonymsLOC235973, Sslp-1
MMRRC Submission 038298-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #R0002 (G1)
Quality Score
Status Validated
Chromosome9
Chromosomal Location36635754-36643376 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 36637359 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 59 (D59E)
Ref Sequence ENSEMBL: ENSMUSP00000139086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093868] [ENSMUST00000184611]
Predicted Effect probably damaging
Transcript: ENSMUST00000093868
AA Change: D59E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000091391
Gene: ENSMUSG00000070313
AA Change: D59E

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000184611
AA Change: D59E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139086
Gene: ENSMUSG00000070313
AA Change: D59E

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184901
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216487
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 85.4%
  • 3x: 79.5%
  • 10x: 62.0%
  • 20x: 53.1%
Validation Efficiency 95% (61/64)
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 T C 4: 40,176,649 probably benign Het
Bcl2 T C 1: 106,712,511 R124G possibly damaging Het
Bri3 G T 5: 144,244,502 C6F probably benign Het
Chn2 A G 6: 54,273,113 N69S probably benign Het
Col5a3 T A 9: 20,809,856 probably null Het
Dhx36 A C 3: 62,480,839 L625W probably damaging Het
Exph5 G T 9: 53,373,956 R779I probably damaging Het
F5 T C 1: 164,201,631 F1733S probably damaging Het
Hsh2d G A 8: 72,200,460 D229N probably benign Het
Iqch T C 9: 63,594,743 probably benign Het
Lgr6 C T 1: 134,994,010 A199T probably damaging Het
Patl2 G A 2: 122,125,710 probably benign Het
Pik3c2g A G 6: 139,768,745 T208A probably benign Het
Prkag3 T C 1: 74,744,788 D312G probably damaging Het
Slc26a5 T A 5: 21,814,983 I530F probably damaging Het
Tacc2 T A 7: 130,621,785 S67T probably damaging Het
Tas2r113 T A 6: 132,893,779 S257T probably benign Het
Tnr T C 1: 159,874,200 Y624H probably damaging Het
Ubr4 T C 4: 139,390,900 L112P probably damaging Het
Other mutations in A630095E13Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02957:A630095E13Rik APN 9 36637850 missense probably benign 0.07
R0002:A630095E13Rik UTSW 9 36637359 missense probably damaging 0.98
R0511:A630095E13Rik UTSW 9 36638577 utr 5 prime probably null
R0684:A630095E13Rik UTSW 9 36637880 missense probably benign 0.00
R5011:A630095E13Rik UTSW 9 36637824 missense probably benign 0.03
R5013:A630095E13Rik UTSW 9 36637824 missense probably benign 0.03
R7721:A630095E13Rik UTSW 9 36637863 missense possibly damaging 0.76
Posted On2012-11-20