Incidental Mutation 'R6652:Stn1'
ID 528119
Institutional Source Beutler Lab
Gene Symbol Stn1
Ensembl Gene ENSMUSG00000042694
Gene Name STN1, CST complex subunit
Synonyms Obfc1, 2310057J23Rik, 0610009H20Rik
MMRRC Submission 044773-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.919) question?
Stock # R6652 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 47489472-47525946 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47496017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 334 (T334A)
Ref Sequence ENSEMBL: ENSMUSP00000138727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049369] [ENSMUST00000182808]
AlphaFold Q8K2X3
Predicted Effect probably benign
Transcript: ENSMUST00000049369
SMART Domains Protein: ENSMUSP00000040944
Gene: ENSMUSG00000042694

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 probably benign
Transcript: ENSMUST00000182808
AA Change: T334A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138727
Gene: ENSMUSG00000042694
AA Change: T334A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182873
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
Validation Efficiency 100% (42/42)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,846,164 (GRCm39) D605G probably damaging Het
Cfh A T 1: 140,071,806 (GRCm39) I294N probably benign Het
Clk3 A G 9: 57,669,078 (GRCm39) S49P probably damaging Het
Cmya5 A G 13: 93,229,403 (GRCm39) V1895A probably benign Het
Cmya5 T C 13: 93,229,547 (GRCm39) D1847G probably damaging Het
Cwf19l1 T C 19: 44,103,138 (GRCm39) D359G probably benign Het
Dag1 A T 9: 108,086,289 (GRCm39) M284K probably damaging Het
Ergic2 T C 6: 148,091,079 (GRCm39) Y211C probably damaging Het
Espnl A C 1: 91,272,421 (GRCm39) I594L probably benign Het
Fam193b A G 13: 55,690,603 (GRCm39) S226P probably damaging Het
Fat2 T A 11: 55,143,088 (GRCm39) I4254L probably benign Het
Fhdc1 T C 3: 84,371,631 (GRCm39) Y108C probably damaging Het
Fut9 G C 4: 25,620,619 (GRCm39) T65S probably benign Het
Gm9507 A T 10: 77,647,493 (GRCm39) probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Grap2 A T 15: 80,532,723 (GRCm39) N297Y probably damaging Het
Igfn1 A G 1: 135,891,609 (GRCm39) F2302S probably damaging Het
Ighv1-81 T A 12: 115,884,051 (GRCm39) I67F probably damaging Het
Kidins220 T A 12: 25,060,059 (GRCm39) probably null Het
Kti12 T A 4: 108,705,730 (GRCm39) S215T probably benign Het
Mc1r G A 8: 124,134,370 (GRCm39) G41D probably damaging Het
Mov10l1 A G 15: 88,878,105 (GRCm39) Y129C probably damaging Het
Mthfsd A T 8: 121,825,560 (GRCm39) L337Q probably damaging Het
Musk C T 4: 58,368,977 (GRCm39) A629V probably damaging Het
Nadsyn1 A T 7: 143,364,955 (GRCm39) M250K probably benign Het
Ncapd2 G A 6: 125,163,233 (GRCm39) H92Y probably benign Het
Or4e5 C T 14: 52,728,250 (GRCm39) R57Q probably benign Het
Or6y1 G A 1: 174,276,627 (GRCm39) C146Y probably damaging Het
Plec A T 15: 76,063,974 (GRCm39) V2100E probably damaging Het
Prss37 C A 6: 40,496,090 (GRCm39) probably benign Het
Sebox A T 11: 78,394,631 (GRCm39) E32V probably damaging Het
Senp7 C A 16: 55,944,257 (GRCm39) Q194K probably benign Het
Sfxn3 G A 19: 45,038,354 (GRCm39) probably null Het
Spart G A 3: 55,032,248 (GRCm39) E361K probably benign Het
Stoml1 A G 9: 58,164,017 (GRCm39) D112G probably damaging Het
Thap2 T A 10: 115,212,441 (GRCm39) D28V probably damaging Het
Ubap2 A T 4: 41,196,743 (GRCm39) N872K possibly damaging Het
Vezt A G 10: 93,806,141 (GRCm39) F757L probably damaging Het
Vmn1r204 T C 13: 22,740,573 (GRCm39) I68T probably damaging Het
Wnt10a A G 1: 74,842,613 (GRCm39) probably null Het
Yipf7 A G 5: 69,698,504 (GRCm39) M1T probably null Het
Zdhhc19 T C 16: 32,316,047 (GRCm39) F48S probably damaging Het
Zfp317 C T 9: 19,558,335 (GRCm39) T183I probably damaging Het
Other mutations in Stn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02206:Stn1 APN 19 47,504,612 (GRCm39) missense possibly damaging 0.71
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
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
Predicted Primers PCR Primer
(F):5'- TGCCTGAAACTGAAAAGCCTTG -3'
(R):5'- ACCAAACCGTAAGTGTTTTGTG -3'

Sequencing Primer
(F):5'- CTGAAAAGCCTTGATGTTTGAGAAG -3'
(R):5'- TCCTAGACAGAATCAGGATGCTCTG -3'
Posted On 2018-07-24