Incidental Mutation 'IGL02206:Stn1'
ID 284487
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stn1
Ensembl Gene ENSMUSG00000042694
Gene Name STN1, CST complex subunit
Synonyms Obfc1, 2310057J23Rik, 0610009H20Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.919) question?
Stock # IGL02206
Quality Score
Status
Chromosome 19
Chromosomal Location 47489472-47525946 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47504612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 177 (M177V)
Ref Sequence ENSEMBL: ENSMUSP00000138727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049369] [ENSMUST00000182808]
AlphaFold Q8K2X3
Predicted Effect possibly damaging
Transcript: ENSMUST00000049369
AA Change: M177V

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000040944
Gene: ENSMUSG00000042694
AA Change: M177V

DomainStartEndE-ValueType
Pfam:Stn1 31 110 1.4e-8 PFAM
Pfam:tRNA_anti-codon 64 165 3e-8 PFAM
Pfam:STN1_2 167 344 7.9e-77 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182109
Predicted Effect possibly damaging
Transcript: ENSMUST00000182808
AA Change: M177V

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000138727
Gene: ENSMUSG00000042694
AA Change: M177V

DomainStartEndE-ValueType
Pfam:Stn1 31 110 1.8e-5 PFAM
Pfam:tRNA_anti-codon 64 165 4.1e-7 PFAM
Pfam:STN1_2 167 330 2.7e-70 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A T 11: 84,151,573 (GRCm39) K824* probably null Het
Acot12 A G 13: 91,908,106 (GRCm39) D96G probably damaging Het
Acvr2b C T 9: 119,257,064 (GRCm39) Q98* probably null Het
Aldh8a1 T C 10: 21,271,474 (GRCm39) V400A probably benign Het
Aox1 C A 1: 58,104,499 (GRCm39) H559N probably benign Het
Arhgef18 T A 8: 3,495,034 (GRCm39) I431N probably benign Het
Atad5 A G 11: 79,985,009 (GRCm39) D32G probably damaging Het
Cgas T C 9: 78,350,362 (GRCm39) probably null Het
Cmtm8 T C 9: 114,672,967 (GRCm39) H10R probably benign Het
Cnn1 T G 9: 22,015,674 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Defb23 C A 2: 152,306,455 (GRCm39) E20* probably null Het
Dennd2a A T 6: 39,500,383 (GRCm39) S61T probably damaging Het
Fam13a A T 6: 58,964,204 (GRCm39) I76K probably benign Het
Fgd5 A G 6: 91,964,239 (GRCm39) probably benign Het
Flt4 A T 11: 49,521,217 (GRCm39) R409W probably damaging Het
Gramd1b T C 9: 40,211,328 (GRCm39) T652A probably benign Het
Grik1 C T 16: 87,732,808 (GRCm39) G703D probably damaging Het
Impg2 A G 16: 56,079,960 (GRCm39) E479G possibly damaging Het
Itpr1 A G 6: 108,526,781 (GRCm39) N2743S probably damaging Het
Klc1 A G 12: 111,744,550 (GRCm39) probably benign Het
Ndufa9 G A 6: 126,821,366 (GRCm39) R75* probably null Het
Neurl4 A G 11: 69,801,166 (GRCm39) N1181S probably damaging Het
Or5an9 T C 19: 12,187,824 (GRCm39) I298T probably damaging Het
Phf1 A G 17: 27,155,843 (GRCm39) probably benign Het
Pkhd1l1 T C 15: 44,376,245 (GRCm39) I969T probably benign Het
Pprc1 G A 19: 46,060,190 (GRCm39) R1538Q probably damaging Het
Rasd1 C T 11: 59,854,778 (GRCm39) G234D possibly damaging Het
Rnf152 T C 1: 105,212,549 (GRCm39) T3A probably benign Het
Rrh C T 3: 129,605,346 (GRCm39) V115I probably benign Het
Rundc3a G T 11: 102,290,460 (GRCm39) E217* probably null Het
Sae1 A T 7: 16,064,581 (GRCm39) V306E possibly damaging Het
Serpinb7 T C 1: 107,363,102 (GRCm39) S89P possibly damaging Het
Serpinb9h A G 13: 33,588,182 (GRCm39) T256A probably damaging Het
Sgo2b T A 8: 64,394,118 (GRCm39) T74S possibly damaging Het
Slc5a7 T C 17: 54,604,022 (GRCm39) D48G probably damaging Het
Tgm1 T C 14: 55,942,392 (GRCm39) E653G possibly damaging Het
Thsd4 T C 9: 60,301,398 (GRCm39) K299R probably benign Het
Ttc22 A G 4: 106,493,186 (GRCm39) T278A probably damaging Het
Ubl4b G T 3: 107,462,141 (GRCm39) Q40K possibly damaging Het
Zfp677 A G 17: 21,613,499 (GRCm39) D31G probably damaging Het
Other mutations in Stn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02338:Stn1 APN 19 47,502,329 (GRCm39) missense probably damaging 1.00
R0309:Stn1 UTSW 19 47,490,112 (GRCm39) missense probably benign 0.01
R1552:Stn1 UTSW 19 47,524,812 (GRCm39) critical splice acceptor site probably null
R3907:Stn1 UTSW 19 47,496,262 (GRCm39) missense probably damaging 1.00
R5866:Stn1 UTSW 19 47,505,568 (GRCm39) missense probably benign 0.12
R6652:Stn1 UTSW 19 47,496,017 (GRCm39) missense probably benign
R8328:Stn1 UTSW 19 47,505,498 (GRCm39) missense probably damaging 1.00
R8519:Stn1 UTSW 19 47,490,111 (GRCm39) missense probably benign 0.00
R8826:Stn1 UTSW 19 47,524,709 (GRCm39) missense probably damaging 1.00
R9494:Stn1 UTSW 19 47,513,125 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16