Incidental Mutation 'R3944:Spout1'
ID 307574
Institutional Source Beutler Lab
Gene Symbol Spout1
Ensembl Gene ENSMUSG00000039660
Gene Name SPOUT domain containing methyltransferase 1
Synonyms D2Wsu81e
MMRRC Submission 040925-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R3944 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 30063465-30068471 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30064148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 372 (V372A)
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
AA Change: V372A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097793
Gene: ENSMUSG00000039660
AA Change: V372A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (61/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
6430548M08Rik T C 8: 120,879,241 (GRCm39) L213P probably damaging Het
Akap12 A G 10: 4,307,347 (GRCm39) K1491E probably benign Het
Akr1c12 T A 13: 4,329,339 (GRCm39) H6L probably benign Het
Ankrd50 C T 3: 38,506,645 (GRCm39) C251Y probably benign Het
Bltp1 A G 3: 37,084,210 (GRCm39) I3876V possibly damaging Het
Bltp2 T A 11: 78,160,350 (GRCm39) L603* probably null Het
Calu T C 6: 29,361,710 (GRCm39) S125P possibly damaging Het
Cdh10 A G 15: 18,964,335 (GRCm39) T166A probably benign Het
Clip1 T C 5: 123,755,892 (GRCm39) probably benign Het
Cntn4 T G 6: 106,595,375 (GRCm39) N497K probably benign Het
Cspg4 T A 9: 56,793,407 (GRCm39) C381S probably damaging Het
Cyp1a2 T C 9: 57,589,151 (GRCm39) N221S probably benign Het
Dnaaf5 C T 5: 139,138,679 (GRCm39) probably benign Het
Dnah7b A G 1: 46,176,645 (GRCm39) D755G probably damaging Het
Dscam A T 16: 96,622,197 (GRCm39) V418E probably damaging Het
Eefsec T A 6: 88,275,076 (GRCm39) H296L probably benign Het
Elmo3 T C 8: 106,035,852 (GRCm39) probably null Het
Gcm1 C T 9: 77,967,098 (GRCm39) Q106* probably null Het
Gnl1 G T 17: 36,299,413 (GRCm39) G528V probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
H2-T23 A G 17: 36,341,535 (GRCm39) V312A probably benign Het
Hectd4 C A 5: 121,441,588 (GRCm39) probably benign Het
Hoxa7 T A 6: 52,193,606 (GRCm39) probably benign Het
Ifnlr1 T A 4: 135,428,539 (GRCm39) V122E probably damaging Het
Kcnt2 T C 1: 140,512,025 (GRCm39) M1036T probably damaging Het
Khdc1b G T 1: 21,455,030 (GRCm39) K96N probably damaging Het
Kif19a A T 11: 114,677,561 (GRCm39) Y578F probably benign Het
Krt4 G A 15: 101,829,685 (GRCm39) T281M probably benign Het
Lyl1 A C 8: 85,430,631 (GRCm39) T178P probably damaging Het
Marchf6 A G 15: 31,488,960 (GRCm39) V317A probably benign Het
Mmp1b G A 9: 7,384,708 (GRCm39) T280I possibly damaging Het
Mpi T C 9: 57,452,536 (GRCm39) D332G probably damaging Het
Naip6 T C 13: 100,431,247 (GRCm39) T1197A probably benign Het
Ntng2 G A 2: 29,094,289 (GRCm39) L361F probably benign Het
Obscn A T 11: 59,023,373 (GRCm39) I668N probably damaging Het
Or52x1 A T 7: 104,853,162 (GRCm39) C129* probably null Het
Or8k40 A G 2: 86,584,525 (GRCm39) S186P probably benign Het
Pabpc1l A G 2: 163,884,247 (GRCm39) E328G probably damaging Het
Pan3 A T 5: 147,387,540 (GRCm39) N170Y probably damaging Het
Prdm2 C T 4: 142,858,385 (GRCm39) R1635Q possibly damaging Het
Rassf6 G T 5: 90,752,185 (GRCm39) Q258K possibly damaging Het
Ribc2 A G 15: 85,019,451 (GRCm39) M78V probably benign Het
Rp9 A C 9: 22,361,154 (GRCm39) H44Q probably damaging Het
Skint5 T A 4: 113,799,950 (GRCm39) H73L probably damaging Het
Slc6a12 A T 6: 121,331,239 (GRCm39) probably null Het
Smg6 G A 11: 74,820,367 (GRCm39) G213R probably damaging Het
Svep1 T A 4: 58,084,807 (GRCm39) probably null Het
Tab1 T C 15: 80,037,941 (GRCm39) L258P probably damaging Het
Tbl3 A G 17: 24,919,682 (GRCm39) S791P possibly damaging Het
Tcof1 C A 18: 60,955,909 (GRCm39) D927Y probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Topaz1 T C 9: 122,579,669 (GRCm39) S860P possibly damaging Het
Vill T C 9: 118,897,499 (GRCm39) I258T probably benign Het
Vmn1r204 G A 13: 22,741,014 (GRCm39) R215H probably benign Het
Vmn2r106 A T 17: 20,487,913 (GRCm39) F829I probably damaging Het
Vmn2r14 A T 5: 109,363,930 (GRCm39) I662N probably damaging Het
Vmn2r58 A T 7: 41,513,885 (GRCm39) F253I probably benign Het
Vps8 A T 16: 21,288,873 (GRCm39) N411Y probably damaging Het
Zfp932 T A 5: 110,157,820 (GRCm39) V506E probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CGTGCCCAATATTCTGGCTC -3'
(R):5'- TCTGAAGTCTTGCCCATATCAC -3'

Sequencing Primer
(F):5'- ATATTCTGGCTCGAGCTGGAAACC -3'
(R):5'- AGTCTTGCCCATATCACTAATTACTG -3'
Posted On 2015-04-17