Incidental Mutation 'IGL03141:Spout1'
ID 410693
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spout1
Ensembl Gene ENSMUSG00000039660
Gene Name SPOUT domain containing methyltransferase 1
Synonyms D2Wsu81e
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # IGL03141
Quality Score
Status
Chromosome 2
Chromosomal Location 30063465-30068471 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 30065067 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q3UHX9
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: ENSMUST00000146466
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142669
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: 89,207,531 (GRCm39) I14T probably benign Het
AY761185 G A 8: 21,434,576 (GRCm39) R51C possibly damaging Het
Cenpt T A 8: 106,578,573 (GRCm39) T15S probably damaging Het
Cotl1 T C 8: 120,537,022 (GRCm39) K131E possibly damaging Het
D5Ertd579e T A 5: 36,770,621 (GRCm39) D1258V possibly damaging Het
Decr1 A T 4: 15,932,902 (GRCm39) I88K probably damaging Het
Efcab3 T C 11: 104,986,696 (GRCm39) S5408P probably damaging Het
Gsto2 T C 19: 47,863,312 (GRCm39) Y63H probably damaging Het
Lrp2 A T 2: 69,307,370 (GRCm39) D2896E probably damaging Het
Lrrc3b T G 14: 15,358,390 (GRCm38) D72A probably damaging Het
Npas1 T C 7: 16,199,063 (GRCm39) E164G probably damaging Het
Or6f1 T A 7: 85,970,909 (GRCm39) I84F probably damaging Het
Parp14 C A 16: 35,659,663 (GRCm39) R1653L probably benign Het
Polq A G 16: 36,837,720 (GRCm39) probably benign Het
Sec31b A T 19: 44,514,759 (GRCm39) probably benign Het
Slc7a11 C T 3: 50,336,334 (GRCm39) A337T possibly damaging Het
Snapc3 A G 4: 83,353,523 (GRCm39) I187M probably damaging Het
Sorcs2 T C 5: 36,222,699 (GRCm39) E352G probably benign Het
Syne1 T A 10: 5,374,261 (GRCm39) K182M probably damaging Het
Vmn2r110 A G 17: 20,803,976 (GRCm39) S200P possibly damaging Het
Other mutations in Spout1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02072:Spout1 APN 2 30,067,938 (GRCm39) nonsense probably null
IGL02232:Spout1 APN 2 30,065,266 (GRCm39) missense probably damaging 1.00
R0496:Spout1 UTSW 2 30,064,983 (GRCm39) missense probably benign 0.00
R3847:Spout1 UTSW 2 30,067,419 (GRCm39) splice site probably null
R3944:Spout1 UTSW 2 30,064,148 (GRCm39) missense probably benign
R4162:Spout1 UTSW 2 30,067,589 (GRCm39) intron probably benign
R4163:Spout1 UTSW 2 30,067,589 (GRCm39) intron probably benign
R4164:Spout1 UTSW 2 30,067,589 (GRCm39) intron probably benign
R7922:Spout1 UTSW 2 30,066,823 (GRCm39) missense probably benign 0.01
R9719:Spout1 UTSW 2 30,065,813 (GRCm39) missense probably benign 0.04
Posted On 2016-08-02