Incidental Mutation 'IGL01104:Rsad1'
ID52301
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rsad1
Ensembl Gene ENSMUSG00000039096
Gene Nameradical S-adenosyl methionine domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.232) question?
Stock #IGL01104
Quality Score
Status
Chromosome11
Chromosomal Location94539798-94549255 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 94543640 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 323 (T323A)
Ref Sequence ENSEMBL: ENSMUSP00000037361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040487]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040487
AA Change: T323A

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000037361
Gene: ENSMUSG00000039096
AA Change: T323A

DomainStartEndE-ValueType
low complexity region 6 24 N/A INTRINSIC
Elp3 39 259 6.54e-40 SMART
Pfam:HemN_C 346 414 7.7e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132274
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148888
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 T A 1: 89,726,075 probably benign Het
AU015836 A T X: 93,971,887 D15V probably damaging Het
Capns2 G T 8: 92,901,755 D91Y probably damaging Het
Chd6 C T 2: 160,961,927 R2071Q probably damaging Het
Col4a4 G T 1: 82,466,545 P1334T unknown Het
Dusp12 T G 1: 170,874,473 H319P probably damaging Het
Emilin3 A T 2: 160,909,783 V112E probably damaging Het
Eya3 T A 4: 132,711,929 F455L probably damaging Het
F10 G A 8: 13,055,686 G417D probably damaging Het
Fat3 A C 9: 16,375,728 V833G possibly damaging Het
Fat3 A T 9: 15,998,460 L2082H probably damaging Het
Golga5 T A 12: 102,493,814 M667K probably damaging Het
Gpr50 T A X: 71,667,227 L305H probably damaging Het
Grhl1 A G 12: 24,584,454 K217R probably damaging Het
Itgb2 A G 10: 77,547,194 probably null Het
Jag1 T A 2: 137,084,378 I1035L probably benign Het
Kdm2a A G 19: 4,356,738 probably benign Het
Lima1 A C 15: 99,843,700 S32A probably damaging Het
Lmod1 C T 1: 135,364,784 T459I probably damaging Het
Mtch1 T C 17: 29,336,222 D284G probably damaging Het
Mtus2 C T 5: 148,077,009 probably null Het
Olfr371 A G 8: 85,231,184 T230A probably benign Het
Ppl T C 16: 5,094,491 Q742R probably benign Het
Reln T C 5: 21,986,967 R1492G probably damaging Het
Slc22a8 A G 19: 8,607,965 T293A possibly damaging Het
Smc4 T C 3: 69,027,584 I677T possibly damaging Het
Ufd1 T C 16: 18,814,837 F4S probably damaging Het
Usp9x T C X: 13,160,903 V16A probably damaging Het
Vmn2r31 A T 7: 7,396,566 C131S probably damaging Het
Vmn2r65 A G 7: 84,940,788 I640T possibly damaging Het
Vwf T C 6: 125,683,556 C2676R probably damaging Het
Other mutations in Rsad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01915:Rsad1 APN 11 94548977 splice site probably null
R0271:Rsad1 UTSW 11 94548464 splice site probably benign
R0619:Rsad1 UTSW 11 94542639 missense probably damaging 1.00
R1147:Rsad1 UTSW 11 94544140 missense probably damaging 1.00
R1147:Rsad1 UTSW 11 94544140 missense probably damaging 1.00
R2069:Rsad1 UTSW 11 94549125 start gained probably benign
R3831:Rsad1 UTSW 11 94543304 missense probably benign 0.45
R3833:Rsad1 UTSW 11 94543304 missense probably benign 0.45
R4152:Rsad1 UTSW 11 94548623 intron probably benign
R4467:Rsad1 UTSW 11 94544530 missense probably benign
R4672:Rsad1 UTSW 11 94543618 missense probably damaging 0.99
R5452:Rsad1 UTSW 11 94543689 missense probably damaging 0.98
R6190:Rsad1 UTSW 11 94548236 missense probably damaging 1.00
R6608:Rsad1 UTSW 11 94542609 missense probably damaging 1.00
R6749:Rsad1 UTSW 11 94543340 missense probably damaging 1.00
X0024:Rsad1 UTSW 11 94548981 critical splice donor site probably null
Posted On2013-06-21