Incidental Mutation 'R4162:Spout1'
ID 321551
Institutional Source Beutler Lab
Gene Symbol Spout1
Ensembl Gene ENSMUSG00000039660
Gene Name SPOUT domain containing methyltransferase 1
Synonyms D2Wsu81e
MMRRC Submission 041005-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R4162 (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: ENSMUST00000142669
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146466
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144093
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 93% (38/41)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 T A 10: 83,342,518 (GRCm39) I431F possibly damaging Het
Atrn A G 2: 130,836,148 (GRCm39) probably benign Het
Cep57 C T 9: 13,723,929 (GRCm39) probably null Het
Cgas G A 9: 78,341,686 (GRCm39) R364C probably damaging Het
Cybc1 T C 11: 121,115,492 (GRCm39) D109G probably damaging Het
Defb41 C T 1: 18,330,821 (GRCm39) C42Y probably damaging Het
Dnah3 C T 7: 119,522,061 (GRCm39) G4033D probably damaging Het
Flnb A T 14: 7,915,374 (GRCm38) I1502F possibly damaging Het
Gli3 G T 13: 15,899,700 (GRCm39) S1029I possibly damaging Het
Gm10722 A C 9: 3,001,041 (GRCm39) Y39S probably benign Het
Gm5592 A G 7: 40,867,202 (GRCm39) probably benign Het
Grin2d T C 7: 45,507,042 (GRCm39) K478E probably damaging Het
Il18 T C 9: 50,490,712 (GRCm39) S116P probably damaging Het
Itsn1 C A 16: 91,649,790 (GRCm39) P155T probably benign Het
Kdm5b C T 1: 134,552,899 (GRCm39) P1292S probably benign Het
Mef2b T C 8: 70,618,961 (GRCm39) F181S probably damaging Het
Mfn1 T C 3: 32,617,147 (GRCm39) probably benign Het
Mfsd12 A G 10: 81,196,931 (GRCm39) probably null Het
Myo10 T A 15: 25,726,501 (GRCm39) probably null Het
Nrxn2 G A 19: 6,582,173 (GRCm39) V660I probably damaging Het
Nsun4 G T 4: 115,891,391 (GRCm39) Y329* probably null Het
Pank4 T C 4: 155,064,051 (GRCm39) probably null Het
Plcb2 T A 2: 118,540,068 (GRCm39) E1075V probably damaging Het
Prep G T 10: 44,943,458 (GRCm39) R11L possibly damaging Het
Prkcd A G 14: 30,323,154 (GRCm39) F461L probably damaging Het
Saxo5 C T 8: 3,529,067 (GRCm39) P214L probably damaging Het
Snx21 T C 2: 164,628,770 (GRCm39) Y138H probably damaging Het
Tex15 T C 8: 34,071,586 (GRCm39) S2378P probably damaging Het
Thap12 C T 7: 98,359,285 (GRCm39) probably benign Het
Trav3-1 T C 14: 52,818,496 (GRCm39) Y57H probably damaging Het
Ttc39c A G 18: 12,857,994 (GRCm39) probably null Het
Tubgcp3 C T 8: 12,689,547 (GRCm39) R573Q possibly damaging Het
Ush2a A C 1: 188,475,877 (GRCm39) K2938T probably benign Het
Vasp A T 7: 18,993,397 (GRCm39) probably null Het
Zfhx3 C A 8: 109,683,619 (GRCm39) T3686K unknown 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
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
Predicted Primers PCR Primer
(F):5'- ACAGAAGATGGTGCAGGCTC -3'
(R):5'- GAACTCTCCTCCCCATGTCAAG -3'

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