Incidental Mutation 'R4163:Spout1'
ID 321591
Institutional Source Beutler Lab
Gene Symbol Spout1
Ensembl Gene ENSMUSG00000039660
Gene Name SPOUT domain containing methyltransferase 1
Synonyms D2Wsu81e
MMRRC Submission 041006-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R4163 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 30063465-30068471 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 30067589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 benign
Transcript: ENSMUST00000100220
SMART Domains Protein: ENSMUSP00000097793
Gene: ENSMUSG00000039660

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: ENSMUST00000142669
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144093
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (59/59)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930555F03Rik G A 8: 49,948,531 (GRCm39) noncoding transcript Het
Abca8a C T 11: 109,941,808 (GRCm39) D1154N probably benign Het
Adgrf4 A G 17: 42,978,477 (GRCm39) F289L probably benign Het
Alkbh2 A G 5: 114,265,613 (GRCm39) L63S probably damaging Het
Atp13a4 A T 16: 29,360,068 (GRCm39) N19K possibly damaging Het
Birc6 T A 17: 74,933,975 (GRCm39) Y2544N probably damaging Het
Bnip5 T C 17: 29,118,503 (GRCm39) Y643C probably benign Het
Bpifa3 A G 2: 153,977,516 (GRCm39) N118S probably damaging Het
Chst10 T A 1: 38,910,904 (GRCm39) M87L probably benign Het
Cnot9 C T 1: 74,568,006 (GRCm39) P298L probably damaging Het
Cops5 T C 1: 10,100,912 (GRCm39) Y228C probably damaging Het
Dcaf8 T G 1: 172,020,137 (GRCm39) L492R probably damaging Het
Dis3l2 A G 1: 86,748,959 (GRCm39) S128G probably benign Het
Dock1 A G 7: 134,346,051 (GRCm39) R198G possibly damaging Het
Elovl7 T A 13: 108,403,904 (GRCm39) M82K possibly damaging Het
Entrep1 G A 19: 23,952,993 (GRCm39) A439V probably damaging Het
Entrep1 C T 19: 23,953,002 (GRCm39) S436N probably damaging Het
Fcgr2b T C 1: 170,791,016 (GRCm39) D259G possibly damaging Het
Flnb A T 14: 7,915,374 (GRCm38) I1502F possibly damaging Het
Frk C T 10: 34,467,868 (GRCm39) P294L probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm128 C A 3: 95,147,802 (GRCm39) R164L probably benign Het
Gm2223 C T X: 32,943,247 (GRCm39) noncoding transcript Het
Hexd C A 11: 121,111,975 (GRCm39) A423E probably benign Het
Itgax G T 7: 127,743,872 (GRCm39) V878F probably benign Het
Kank2 A T 9: 21,706,864 (GRCm39) D51E probably damaging Het
Kcna4 G C 2: 107,126,151 (GRCm39) W295S probably damaging Het
Mfsd12 A G 10: 81,196,931 (GRCm39) probably null Het
Mis12 A G 11: 70,916,482 (GRCm39) T172A probably benign Het
Myo10 T A 15: 25,726,501 (GRCm39) probably null Het
Myo18a G T 11: 77,720,534 (GRCm39) R1103L possibly damaging Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Ntrk2 T C 13: 59,008,054 (GRCm39) V272A probably damaging Het
Or2ag17 A T 7: 106,389,486 (GRCm39) C241S probably damaging Het
Or5p64 A T 7: 107,855,039 (GRCm39) I102N probably benign Het
Or7e165 A T 9: 19,695,086 (GRCm39) Y219F possibly damaging Het
Pcdh20 C T 14: 88,705,615 (GRCm39) D562N probably damaging Het
Prep T C 10: 44,943,436 (GRCm39) F4L probably benign Het
Prep G T 10: 44,943,458 (GRCm39) R11L possibly damaging Het
Ptgs1 C T 2: 36,141,346 (GRCm39) R598C possibly damaging Het
Rasgrp1 T C 2: 117,113,135 (GRCm39) D759G probably benign Het
Setd5 T C 6: 113,096,545 (GRCm39) S584P probably benign Het
Shank3 A G 15: 89,433,797 (GRCm39) D1514G probably damaging Het
Shox2 T C 3: 66,881,104 (GRCm39) probably benign Het
Slc44a5 A T 3: 153,967,010 (GRCm39) R565S possibly damaging Het
Slc7a5 A G 8: 122,615,139 (GRCm39) L236S probably benign Het
Slfn3 A T 11: 83,103,596 (GRCm39) I156F probably damaging Het
Trim72 T C 7: 127,607,080 (GRCm39) V203A probably benign Het
Vrk2 T A 11: 26,497,915 (GRCm39) I90L probably benign Het
Zc3h12c A T 9: 52,026,999 (GRCm39) Y788N probably damaging Het
Zfp831 A G 2: 174,485,822 (GRCm39) T166A 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
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
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
Predicted Primers PCR Primer
(F):5'- TCCACACAGAAGATGGTGC -3'
(R):5'- GAACTCTCCTCCCCATGTCAAG -3'

Sequencing Primer
(F):5'- AAGATGGTGCAGGCTCTGGC -3'
(R):5'- GTCAAGTCCTTTCCCTCCAATAATTC -3'
Posted On 2015-06-12