Incidental Mutation 'IGL01431:Rsad2'
ID84120
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rsad2
Ensembl Gene ENSMUSG00000020641
Gene Nameradical S-adenosyl methionine domain containing 2
Synonymsviperin, cig5, Vig1, 2510004L01Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01431
Quality Score
Status
Chromosome12
Chromosomal Location26442746-26456452 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 26448667 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 269 (R269S)
Ref Sequence ENSEMBL: ENSMUSP00000020970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020970] [ENSMUST00000137792]
Predicted Effect probably benign
Transcript: ENSMUST00000020970
AA Change: R269S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000020970
Gene: ENSMUSG00000020641
AA Change: R269S

DomainStartEndE-ValueType
low complexity region 13 28 N/A INTRINSIC
Elp3 74 282 8.55e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137792
SMART Domains Protein: ENSMUSP00000121791
Gene: ENSMUSG00000020641

DomainStartEndE-ValueType
low complexity region 13 28 N/A INTRINSIC
Pfam:Fer4_12 69 174 1.3e-10 PFAM
Pfam:Fer4_14 78 172 7.7e-11 PFAM
Pfam:Radical_SAM 78 178 9.5e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142732
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit impaired T-helper 2 differentitation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik A T 2: 111,225,395 probably benign Het
Adamts7 A G 9: 90,207,785 I897T possibly damaging Het
Aqp2 G A 15: 99,579,420 V90M possibly damaging Het
Atf6 T C 1: 170,853,002 probably benign Het
Cdh3 T C 8: 106,547,669 Y607H probably damaging Het
Cer1 T A 4: 82,882,831 E198D probably benign Het
Dscam A G 16: 96,652,078 probably null Het
Ecel1 C T 1: 87,151,504 R484H probably damaging Het
Entpd7 C A 19: 43,729,839 H575Q probably benign Het
F11r T C 1: 171,462,909 V279A probably damaging Het
Gm17093 T A 14: 44,521,665 probably benign Het
Got1 T A 19: 43,503,049 K321* probably null Het
Gpn1 T C 5: 31,507,538 V302A probably benign Het
Hivep1 G T 13: 42,158,017 K1244N probably damaging Het
Idh3b T C 2: 130,281,897 T116A possibly damaging Het
Itgb4 C A 11: 116,006,457 probably benign Het
Mybl1 G T 1: 9,672,647 L579I probably damaging Het
Myh14 T A 7: 44,614,358 T1694S probably null Het
Mylk3 T C 8: 85,336,401 D537G probably damaging Het
Myo1d A C 11: 80,674,839 F387V probably damaging Het
Nek9 T C 12: 85,314,587 Y448C probably benign Het
Olfr1090 A T 2: 86,754,164 H191Q probably benign Het
Paxbp1 T C 16: 91,035,916 probably benign Het
Retreg2 T A 1: 75,145,105 probably null Het
Ripply3 G A 16: 94,328,543 C16Y possibly damaging Het
Robo3 G A 9: 37,419,111 probably benign Het
Rrm1 C A 7: 102,457,552 probably benign Het
Sbp A T 17: 23,945,348 probably benign Het
Schip1 A T 3: 68,617,777 Q162L probably damaging Het
Senp1 T C 15: 98,082,263 Y67C probably damaging Het
Slc25a25 C T 2: 32,419,091 R233K probably damaging Het
Smoc1 C A 12: 81,152,751 S220* probably null Het
Stab1 C A 14: 31,148,995 R1299I probably benign Het
Stk17b A G 1: 53,765,915 probably benign Het
Tmc7 T G 7: 118,552,762 D312A probably damaging Het
Vmn1r79 T C 7: 12,176,400 S70P possibly damaging Het
Zfc3h1 C A 10: 115,423,223 T1591K possibly damaging Het
Other mutations in Rsad2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02237:Rsad2 APN 12 26456187 missense probably damaging 1.00
R0077:Rsad2 UTSW 12 26456377 missense probably damaging 0.96
R0472:Rsad2 UTSW 12 26454168 missense possibly damaging 0.87
R1368:Rsad2 UTSW 12 26447148 splice site probably null
R1392:Rsad2 UTSW 12 26445440 missense probably benign 0.00
R1392:Rsad2 UTSW 12 26445440 missense probably benign 0.00
R1393:Rsad2 UTSW 12 26456377 missense probably damaging 0.96
R1860:Rsad2 UTSW 12 26450617 missense probably damaging 1.00
R2286:Rsad2 UTSW 12 26450676 missense probably benign 0.20
R3430:Rsad2 UTSW 12 26456419 start codon destroyed probably null 0.98
R5304:Rsad2 UTSW 12 26450682 missense probably damaging 1.00
R6000:Rsad2 UTSW 12 26447151 critical splice donor site probably null
R6052:Rsad2 UTSW 12 26450578 missense probably benign 0.02
R6084:Rsad2 UTSW 12 26454123 missense probably damaging 1.00
R6193:Rsad2 UTSW 12 26456187 missense probably damaging 1.00
R7019:Rsad2 UTSW 12 26456419 start codon destroyed possibly damaging 0.89
R7158:Rsad2 UTSW 12 26450780 splice site probably null
R7229:Rsad2 UTSW 12 26454123 missense probably damaging 1.00
R8330:Rsad2 UTSW 12 26456406 missense probably benign
Posted On2013-11-11