Incidental Mutation 'IGL02206:Stn1'
ID284487
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stn1
Ensembl Gene ENSMUSG00000042694
Gene NameSTN1, CST complex subunit
Synonyms0610009H20Rik, 2310057J23Rik, Obfc1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.932) question?
Stock #IGL02206
Quality Score
Status
Chromosome19
Chromosomal Location47501033-47537507 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 47516173 bp
ZygosityHeterozygous
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]
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: 84,260,747 K824* probably null Het
Acot12 A G 13: 91,759,987 D96G probably damaging Het
Acvr2b C T 9: 119,427,998 Q98* probably null Het
Aldh8a1 T C 10: 21,395,575 V400A probably benign Het
Aox1 C A 1: 58,065,340 H559N probably benign Het
Arhgef18 T A 8: 3,445,034 I431N probably benign Het
Atad5 A G 11: 80,094,183 D32G probably damaging Het
Cmtm8 T C 9: 114,843,899 H10R probably benign Het
Cnn1 T G 9: 22,104,378 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Defb23 C A 2: 152,464,535 E20* probably null Het
Dennd2a A T 6: 39,523,449 S61T probably damaging Het
Fam13a A T 6: 58,987,219 I76K probably benign Het
Fgd5 A G 6: 91,987,258 probably benign Het
Flt4 A T 11: 49,630,390 R409W probably damaging Het
Gm11397 A G 13: 33,404,199 T256A probably damaging Het
Gramd1b T C 9: 40,300,032 T652A probably benign Het
Grik1 C T 16: 87,935,920 G703D probably damaging Het
Impg2 A G 16: 56,259,597 E479G possibly damaging Het
Itpr1 A G 6: 108,549,820 N2743S probably damaging Het
Klc1 A G 12: 111,778,116 probably benign Het
Mb21d1 T C 9: 78,443,080 probably null Het
Ndufa9 G A 6: 126,844,403 R75* probably null Het
Neurl4 A G 11: 69,910,340 N1181S probably damaging Het
Olfr1431 T C 19: 12,210,460 I298T probably damaging Het
Phf1 A G 17: 26,936,869 probably benign Het
Pkhd1l1 T C 15: 44,512,849 I969T probably benign Het
Pprc1 G A 19: 46,071,751 R1538Q probably damaging Het
Rasd1 C T 11: 59,963,952 G234D possibly damaging Het
Rnf152 T C 1: 105,284,824 T3A probably benign Het
Rrh C T 3: 129,811,697 V115I probably benign Het
Rundc3a G T 11: 102,399,634 E217* probably null Het
Sae1 A T 7: 16,330,656 V306E possibly damaging Het
Serpinb7 T C 1: 107,435,372 S89P possibly damaging Het
Sgo2b T A 8: 63,941,084 T74S possibly damaging Het
Slc5a7 T C 17: 54,296,994 D48G probably damaging Het
Tgm1 T C 14: 55,704,935 E653G possibly damaging Het
Thsd4 T C 9: 60,394,115 K299R probably benign Het
Ttc22 A G 4: 106,635,989 T278A probably damaging Het
Ubl4b G T 3: 107,554,825 Q40K possibly damaging Het
Zfp677 A G 17: 21,393,237 D31G probably damaging Het
Other mutations in Stn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02338:Stn1 APN 19 47513890 missense probably damaging 1.00
R0309:Stn1 UTSW 19 47501673 missense probably benign 0.01
R1552:Stn1 UTSW 19 47536373 critical splice acceptor site probably null
R3907:Stn1 UTSW 19 47507823 missense probably damaging 1.00
R5866:Stn1 UTSW 19 47517129 missense probably benign 0.12
R6652:Stn1 UTSW 19 47507578 missense probably benign
R8328:Stn1 UTSW 19 47517059 missense probably damaging 1.00
R8519:Stn1 UTSW 19 47501672 missense probably benign 0.00
Posted On2015-04-16