Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02206:Stn1'

284487

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stn1

Ensembl Gene

ENSMUSG00000042694

Gene Name

STN1, CST complex subunit

Synonyms

0610009H20Rik, 2310057J23Rik, Obfc1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.932) question?

Stock #

IGL02206

Quality Score

Status

Chromosome

Chromosomal Location

47501033-47537507 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47516173 bp

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]

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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 On

2015-04-16