Incidental Mutation 'IGL02072:Spout1'
ID 185844
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 # IGL02072
Quality Score
Status
Chromosome 2
Chromosomal Location 30063465-30068471 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 30067938 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 26 (Q26*)
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 null
Transcript: ENSMUST00000100220
AA Change: Q26*
SMART Domains Protein: ENSMUSP00000097793
Gene: ENSMUSG00000039660
AA Change: Q26*

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: ENSMUST00000146466
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144093
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595D18Rik T A 12: 111,128,254 (GRCm39) probably benign Het
Atm A G 9: 53,371,096 (GRCm39) S2251P probably benign Het
C1qtnf6 T A 15: 78,411,551 (GRCm39) K42* probably null Het
Ddx20 A T 3: 105,587,943 (GRCm39) V379E probably damaging Het
Dnah7a A T 1: 53,644,986 (GRCm39) W1017R probably damaging Het
Eif2s1 T A 12: 78,926,788 (GRCm39) N179K probably benign Het
Exosc9 A T 3: 36,608,821 (GRCm39) N140I probably damaging Het
Fancg A C 4: 43,007,062 (GRCm39) H238Q probably benign Het
Fyttd1 A G 16: 32,721,031 (GRCm39) I110V probably damaging Het
G6pd2 A T 5: 61,966,753 (GRCm39) D176V probably damaging Het
Gm5114 A G 7: 39,060,826 (GRCm39) S8P probably benign Het
Hoxa1 T A 6: 52,133,878 (GRCm39) M283L probably damaging Het
Hspbp1 A T 7: 4,680,720 (GRCm39) L252H probably damaging Het
Itgb2l A T 16: 96,231,808 (GRCm39) D319E probably benign Het
Kdm6a A G X: 18,120,528 (GRCm39) T737A probably benign Het
Kmt2c A T 5: 25,610,430 (GRCm39) D225E possibly damaging Het
Lamb2 T A 9: 108,359,107 (GRCm39) Y274* probably null Het
Lratd2 A G 15: 60,695,302 (GRCm39) L148P probably damaging Het
Mamdc4 A G 2: 25,458,351 (GRCm39) L353P probably damaging Het
Mid2 T A X: 139,637,201 (GRCm39) H258Q probably damaging Het
Msh3 A C 13: 92,436,803 (GRCm39) N502K probably damaging Het
Nalcn T C 14: 123,560,770 (GRCm39) H769R probably benign Het
Nfx1 A G 4: 41,016,119 (GRCm39) I894V probably benign Het
Notch3 G A 17: 32,366,048 (GRCm39) Q1018* probably null Het
Oas1e A G 5: 120,929,846 (GRCm39) probably null Het
Or4f14d A T 2: 111,960,426 (GRCm39) H243Q probably damaging Het
Or7g34 A G 9: 19,478,245 (GRCm39) I145T probably benign Het
Plekha4 T A 7: 45,187,722 (GRCm39) F265I probably benign Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Slc9a3 T C 13: 74,313,978 (GRCm39) I762T probably benign Het
Spag1 C A 15: 36,190,658 (GRCm39) P158Q probably damaging Het
Sulf1 T C 1: 12,918,432 (GRCm39) Y50H probably damaging Het
Sytl5 C T X: 9,829,825 (GRCm39) probably benign Het
Tcof1 T C 18: 60,964,637 (GRCm39) E663G possibly damaging Het
Tmc3 A G 7: 83,265,148 (GRCm39) I681V probably benign Het
Tnfsf4 G T 1: 161,244,860 (GRCm39) C183F probably damaging Het
Ubqln3 A T 7: 103,790,506 (GRCm39) L528Q possibly damaging Het
Upf3a A C 8: 13,848,368 (GRCm39) Q388P probably damaging Het
Vrk1 T C 12: 106,009,144 (GRCm39) V70A probably benign Het
Other mutations in Spout1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02232:Spout1 APN 2 30,065,266 (GRCm39) missense probably damaging 1.00
IGL03141:Spout1 APN 2 30,065,067 (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 2014-05-07