Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02109:Pms1'

281158

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pms1

Ensembl Gene

ENSMUSG00000026098

Gene Name

PMS1 homolog 1, mismatch repair system component

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02109

Quality Score

Status

Chromosome

Chromosomal Location

53189187-53297018 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53207409 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 324 (S324P)

Ref Sequence

ENSEMBL: ENSMUSP00000119632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027267] [ENSMUST00000135246]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027267
AA Change: S324P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027267
Gene: ENSMUSG00000026098
AA Change: S324P

Domain	Start	End	E-Value	Type
HATPase_c	16	151	3.84e-1	SMART
DNA_mis_repair	210	338	2.46e-25	SMART
low complexity region	457	474	N/A	INTRINSIC
HMG	557	627	1.42e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000135246
AA Change: S324P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119632
Gene: ENSMUSG00000026098
AA Change: S324P

Domain	Start	End	E-Value	Type
HATPase_c	16	151	3.84e-1	SMART
DNA_mis_repair	210	338	2.46e-25	SMART
low complexity region	457	474	N/A	INTRINSIC
HMG	557	627	1.42e-17	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit a modest increase in DNA mismatch repair errors, primarily single base pair substitutions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank1	T	A	8: 23,096,184	N427K	probably damaging	Het
Ano10	C	T	9: 122,261,342	E302K	probably damaging	Het
Arl3	T	A	19: 46,542,346		probably benign	Het
Clec14a	T	A	12: 58,268,148	E229D	probably benign	Het
Ctbp1	T	C	5: 33,266,968	D26G	probably damaging	Het
Flt3	G	T	5: 147,350,681	H671N	probably benign	Het
Fras1	A	G	5: 96,700,523	D1799G	probably benign	Het
Il20ra	G	A	10: 19,759,505	G498D	possibly damaging	Het
Kcnu1	T	G	8: 25,937,699	L348R	possibly damaging	Het
Lrpprc	A	T	17: 84,726,570	L999*	probably null	Het
Myt1	T	G	2: 181,815,617		probably benign	Het
N4bp2	C	T	5: 65,798,134	T467M	probably damaging	Het
Nup98	T	C	7: 102,183,486	T355A	probably benign	Het
Ocstamp	A	T	2: 165,397,336	V310E	possibly damaging	Het
Olfr1285	T	G	2: 111,408,493		noncoding transcript	Het
Olfr147	T	C	9: 38,403,086	F71L	possibly damaging	Het
Plcb1	C	A	2: 134,786,559	H9Q	probably damaging	Het
Plxna4	T	A	6: 32,215,641	Q795L	probably benign	Het
Pnldc1	G	T	17: 12,905,538	H143Q	probably benign	Het
Ppp1r12b	A	G	1: 134,872,805		probably null	Het
Ryr3	A	G	2: 112,949,157	F250L	probably benign	Het
Scgn	T	C	13: 23,953,965	D241G	possibly damaging	Het
St8sia4	T	C	1: 95,660,892	I73V	possibly damaging	Het
Tle3	T	A	9: 61,413,050	C595S	probably damaging	Het
Tmem209	T	C	6: 30,497,945	Y117C	probably damaging	Het
Tshr	T	A	12: 91,537,992	I568N	probably damaging	Het
Ttll10	C	T	4: 156,047,480	D22N	probably benign	Het
Ttn	A	T	2: 76,809,858	V13802E	probably damaging	Het

Other mutations in Pms1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Pms1	APN	1	53206556	splice site	probably benign
IGL00937:Pms1	APN	1	53275251	missense	possibly damaging	0.74
IGL01505:Pms1	APN	1	53206971	missense	probably benign
IGL02245:Pms1	APN	1	53207360	missense	probably damaging	1.00
IGL02273:Pms1	APN	1	53207997	missense	probably damaging	1.00
IGL02339:Pms1	APN	1	53275165	missense	possibly damaging	0.78
R0157:Pms1	UTSW	1	53195037	nonsense	probably null
R0530:Pms1	UTSW	1	53196813	splice site	probably null
R1398:Pms1	UTSW	1	53207276	missense	possibly damaging	0.88
R1817:Pms1	UTSW	1	53206969	missense	probably benign	0.02
R1831:Pms1	UTSW	1	53207211	missense	probably benign	0.00
R1838:Pms1	UTSW	1	53192098	critical splice donor site	probably null
R1867:Pms1	UTSW	1	53189387	missense	probably benign	0.36
R1874:Pms1	UTSW	1	53207233	missense	probably benign	0.16
R1939:Pms1	UTSW	1	53196976	missense	probably damaging	1.00
R1991:Pms1	UTSW	1	53282042	missense	probably damaging	1.00
R1993:Pms1	UTSW	1	53195015	missense	probably benign
R1995:Pms1	UTSW	1	53195015	missense	probably benign
R2049:Pms1	UTSW	1	53281988	missense	probably damaging	0.99
R2058:Pms1	UTSW	1	53275168	missense	probably benign	0.00
R2140:Pms1	UTSW	1	53281988	missense	probably damaging	0.99
R4078:Pms1	UTSW	1	53267789	splice site	probably null
R4608:Pms1	UTSW	1	53194938	missense	possibly damaging	0.80
R4668:Pms1	UTSW	1	53189474	nonsense	probably null
R5164:Pms1	UTSW	1	53207640	missense	probably damaging	0.99
R5200:Pms1	UTSW	1	53206757	missense	probably benign	0.00
R5397:Pms1	UTSW	1	53192120	nonsense	probably null
R5745:Pms1	UTSW	1	53207702	nonsense	probably null
R6440:Pms1	UTSW	1	53195021	missense	probably damaging	0.98
R6445:Pms1	UTSW	1	53192194	missense	possibly damaging	0.77
R6802:Pms1	UTSW	1	53206792	missense	probably benign	0.06
R6975:Pms1	UTSW	1	53189431	missense	probably damaging	0.99
R7020:Pms1	UTSW	1	53189382	missense	probably damaging	1.00
R7037:Pms1	UTSW	1	53207611	missense	possibly damaging	0.95
R7199:Pms1	UTSW	1	53256730	missense	probably benign	0.02
R7417:Pms1	UTSW	1	53197072	missense	probably benign	0.00
R7587:Pms1	UTSW	1	53207316	missense	probably benign	0.00
R7716:Pms1	UTSW	1	53207608	missense	probably damaging	1.00
R8178:Pms1	UTSW	1	53207346	missense	probably benign	0.00
R8336:Pms1	UTSW	1	53206826	missense	probably benign
R8399:Pms1	UTSW	1	53267932	critical splice acceptor site	probably null

Posted On

2015-04-16