Incidental Mutation 'R8328:Stn1'
ID 644227
Institutional Source Beutler Lab
Gene Symbol Stn1
Ensembl Gene ENSMUSG00000042694
Gene Name STN1, CST complex subunit
Synonyms Obfc1, 2310057J23Rik, 0610009H20Rik
MMRRC Submission 067727-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.919) question?
Stock # R8328 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 47489472-47525946 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 47505498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 152 (R152L)
Ref Sequence ENSEMBL: ENSMUSP00000040944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049369] [ENSMUST00000182808]
AlphaFold Q8K2X3
PDB Structure Solution structure of the hypothetical domain of RIKEN cDNA 0610009H20 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000049369
AA Change: R152L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040944
Gene: ENSMUSG00000042694
AA Change: R152L

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 damaging
Transcript: ENSMUST00000182808
AA Change: R152L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138727
Gene: ENSMUSG00000042694
AA Change: R152L

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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
Adamts9 A T 6: 92,866,993 (GRCm39) M682K probably benign Het
Ankdd1b T A 13: 96,591,374 (GRCm39) I42F possibly damaging Het
Ankrd6 C T 4: 32,810,215 (GRCm39) E489K probably benign Het
Arhgef28 A T 13: 98,187,517 (GRCm39) H259Q possibly damaging Het
Atosb T C 4: 43,034,751 (GRCm39) T323A probably benign Het
C3 T C 17: 57,527,973 (GRCm39) S749G probably benign Het
Celsr1 A G 15: 85,806,445 (GRCm39) S2338P probably benign Het
Ces2a A T 8: 105,463,998 (GRCm39) N210I probably damaging Het
Cuzd1 A T 7: 130,913,345 (GRCm39) V424D probably damaging Het
Cyp2j11 T A 4: 96,236,605 (GRCm39) H67L probably benign Het
Dennd5b A G 6: 148,922,115 (GRCm39) S800P probably damaging Het
Dmrta2 G T 4: 109,837,206 (GRCm39) L49F unknown Het
Dpy19l1 T A 9: 24,386,686 (GRCm39) K9* probably null Het
Dsc2 T C 18: 20,165,576 (GRCm39) H843R possibly damaging Het
Dsg1b T A 18: 20,510,007 (GRCm39) F6I probably benign Het
Hck C T 2: 152,970,987 (GRCm39) A83V probably damaging Het
Hdc T C 2: 126,443,803 (GRCm39) E292G probably damaging Het
Ighv1-23 A G 12: 114,728,116 (GRCm39) L102P probably damaging Het
Kdm3b G A 18: 34,926,123 (GRCm39) V88M probably damaging Het
Kremen2 A G 17: 23,961,745 (GRCm39) V254A probably benign Het
Lrrc8e T A 8: 4,285,641 (GRCm39) I622N probably damaging Het
Megf8 A G 7: 25,046,917 (GRCm39) N1600S probably benign Het
Mical3 A G 6: 120,912,138 (GRCm39) I1907T probably damaging Het
Nr4a3 T A 4: 48,051,323 (GRCm39) Y26N probably damaging Het
Nrl T C 14: 55,758,163 (GRCm39) E188G probably damaging Het
Or4d1 A G 11: 87,804,985 (GRCm39) M249T possibly damaging Het
Or9e1 T A 11: 58,732,460 (GRCm39) D173E probably benign Het
Polr1a G A 6: 71,897,718 (GRCm39) E238K probably benign Het
Pramel26 A G 4: 143,537,380 (GRCm39) L317P probably damaging Het
Prr5 G C 15: 84,587,387 (GRCm39) *388S probably null Het
Rptor A G 11: 119,783,473 (GRCm39) T1156A probably benign Het
Slc9c1 T A 16: 45,398,227 (GRCm39) I664K probably damaging Het
Syde2 T C 3: 145,721,496 (GRCm39) V1121A probably benign Het
Vmn1r158 T C 7: 22,489,487 (GRCm39) T241A probably damaging Het
Vmn1r209 C A 13: 22,990,643 (GRCm39) V16L probably benign Het
Wdr19 A G 5: 65,382,638 (GRCm39) E454G probably damaging Het
Zan C T 5: 137,392,726 (GRCm39) E4590K unknown Het
Zfp579 T G 7: 4,997,866 (GRCm39) H15P unknown Het
Zfp628 A G 7: 4,922,813 (GRCm39) N345S probably benign Het
Zfp944 T A 17: 22,558,705 (GRCm39) K181* probably null Het
Zscan5b C T 7: 6,236,946 (GRCm39) P232S possibly 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
R6652:Stn1 UTSW 19 47,496,017 (GRCm39) missense probably benign
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'- CGGTGAAATTATCCAAACTTCCC -3'
(R):5'- AAGGACCCTCGCTTATACCTC -3'

Sequencing Primer
(F):5'- AGCTCTTTTCCTAAAAACGGC -3'
(R):5'- AGGACCCTCGCTTATACCTCTTCTC -3'
Posted On 2020-09-02