Incidental Mutation 'IGL03141:Spout1'
ID410693
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spout1
Ensembl Gene ENSMUSG00000039660
Gene NameSPOUT domain containing methyltransferase 1
SynonymsD2Wsu81e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.955) question?
Stock #IGL03141
Quality Score
Status
Chromosome2
Chromosomal Location30173453-30178459 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 30175055 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 311 (V311G)
Ref Sequence ENSEMBL: ENSMUSP00000097793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015481] [ENSMUST00000100220]
Predicted Effect probably benign
Transcript: ENSMUST00000015481
SMART Domains Protein: ENSMUSP00000015481
Gene: ENSMUSG00000015337

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 30 62 N/A INTRINSIC
Endonuclease_NS 74 282 3.07e-79 SMART
NUC 75 282 3.37e-107 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100220
AA Change: V311G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097793
Gene: ENSMUSG00000039660
AA Change: V311G

DomainStartEndE-ValueType
coiled coil region 36 72 N/A INTRINSIC
Pfam:Methyltrn_RNA_3 75 365 2.5e-114 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125141
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127309
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142669
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146466
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality before implantation. Heterozygotes show reduced spontaneous apoptosis of differentiating spermatogonia as well as reduced apoptosis and nuclear DNA fragmentation in splenocytes, thymocytes and MEFs in response to apoptotic stimuli. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adm2 T C 15: 89,323,328 I14T probably benign Het
AY761185 G A 8: 20,944,560 R51C possibly damaging Het
Cenpt T A 8: 105,851,941 T15S probably damaging Het
Cotl1 T C 8: 119,810,283 K131E possibly damaging Het
D5Ertd579e T A 5: 36,613,277 D1258V possibly damaging Het
Decr1 A T 4: 15,932,902 I88K probably damaging Het
Gm11639 T C 11: 105,095,870 S5408P probably damaging Het
Gsto2 T C 19: 47,874,873 Y63H probably damaging Het
Lrp2 A T 2: 69,477,026 D2896E probably damaging Het
Lrrc3b T G 14: 15,358,390 D72A probably damaging Het
Npas1 T C 7: 16,465,138 E164G probably damaging Het
Olfr308 T A 7: 86,321,701 I84F probably damaging Het
Parp14 C A 16: 35,839,293 R1653L probably benign Het
Polq A G 16: 37,017,358 probably benign Het
Sec31b A T 19: 44,526,320 probably benign Het
Slc7a11 C T 3: 50,381,885 A337T possibly damaging Het
Snapc3 A G 4: 83,435,286 I187M probably damaging Het
Sorcs2 T C 5: 36,065,355 E352G probably benign Het
Syne1 T A 10: 5,424,261 K182M probably damaging Het
Vmn2r110 A G 17: 20,583,714 S200P possibly damaging Het
Other mutations in Spout1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02072:Spout1 APN 2 30177926 nonsense probably null
IGL02232:Spout1 APN 2 30175254 missense probably damaging 1.00
R0496:Spout1 UTSW 2 30174971 missense probably benign 0.00
R3847:Spout1 UTSW 2 30177407 splice site probably null
R3944:Spout1 UTSW 2 30174136 missense probably benign
R4162:Spout1 UTSW 2 30177577 intron probably benign
R4163:Spout1 UTSW 2 30177577 intron probably benign
R4164:Spout1 UTSW 2 30177577 intron probably benign
R7922:Spout1 UTSW 2 30176811 missense probably benign 0.01
Posted On2016-08-02