Mutagenetix > Incidental Mutation

Incidental Mutation 'R7587:Pms1'

587181

Institutional Source

Beutler Lab

Gene Symbol

Pms1

Ensembl Gene

ENSMUSG00000026098

Gene Name

PMS1 homolog 1, mismatch repair system component

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7587 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53189187-53297018 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53207316 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 355 (S355P)

Ref Sequence

ENSEMBL: ENSMUSP00000027267 (fasta)

Gene Model

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

AlphaFold

Q8K119

Predicted Effect

probably benign
Transcript: ENSMUST00000027267
AA Change: S355P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000027267
Gene: ENSMUSG00000026098
AA Change: S355P

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 benign
Transcript: ENSMUST00000135246
AA Change: S355P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000119632
Gene: ENSMUSG00000026098
AA Change: S355P

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,792,087	T131A	probably damaging	Het
Asah1	A	T	8: 41,374,541	V15D	probably benign	Het
Asic1	A	C	15: 99,695,590	Q276P	probably damaging	Het
Atl2	A	T	17: 79,865,067	V158E	probably benign	Het
Atrn	T	A	2: 130,980,114	I909N	probably damaging	Het
BC034090	A	G	1: 155,217,486	V742A	probably damaging	Het
Capzb	T	A	4: 139,262,023	D85E	possibly damaging	Het
Cdh20	T	C	1: 104,941,279	F165S	probably damaging	Het
Cfap44	A	G	16: 44,404,106	E59G	probably benign	Het
Clpsl2	G	A	17: 28,549,541	V10I	probably benign	Het
D630003M21Rik	T	C	2: 158,196,388	Y1046C	probably benign	Het
D630003M21Rik	T	A	2: 158,201,056	S855C	probably damaging	Het
D6Wsu163e	A	G	6: 126,955,896	I361V	probably benign	Het
Dchs2	A	G	3: 83,304,515	I1874V	probably benign	Het
Dennd2a	T	G	6: 39,483,135	K679Q	probably damaging	Het
Dio2	A	G	12: 90,729,560	V218A	probably benign	Het
Fam208b	T	C	13: 3,568,849	K2251E	possibly damaging	Het
Gm3286	A	G	5: 95,521,411	T100A	probably damaging	Het
Gpr107	A	T	2: 31,168,826	K109N	probably benign	Het
Gpr108	C	T	17: 57,236,732	R448Q	probably damaging	Het
Gucy2c	A	G	6: 136,704,290	V932A	probably damaging	Het
Kcnj8	T	C	6: 142,566,339	T181A	probably damaging	Het
Kdm3b	A	G	18: 34,797,027		probably null	Het
Lipc	A	G	9: 70,818,924	Y168H	probably damaging	Het
Lipi	C	T	16: 75,550,215	V439M	probably benign	Het
Lpp	A	T	16: 24,762,279		probably null	Het
Lrp1b	T	G	2: 40,730,717	D3583A		Het
Ltbr	T	C	6: 125,312,352	T165A	probably benign	Het
Mroh3	A	G	1: 136,190,998	I527T	probably benign	Het
Mylk	A	G	16: 34,922,517	E1133G	probably benign	Het
Nat3	T	C	8: 67,547,574	I35T	probably damaging	Het
Ncbp3	T	C	11: 73,066,765		probably null	Het
Nedd1	G	A	10: 92,698,730	T306M	probably benign	Het
Nexn	T	C	3: 152,247,178	R316G	probably benign	Het
Nox4	A	G	7: 87,317,302	H207R	probably damaging	Het
Nsun6	T	C	2: 15,039,825	Q110R	probably benign	Het
Olfr22-ps1	C	T	11: 73,955,184	Q165*	probably null	Het
Olfr668	C	T	7: 104,925,056	R236H	probably benign	Het
Olfr851	T	A	9: 19,497,522	V258E	probably damaging	Het
Pappa2	T	C	1: 158,851,131	D905G	probably damaging	Het
Pepd	T	C	7: 34,969,540	L195S	probably damaging	Het
Pop1	A	T	15: 34,502,413	K82M	probably damaging	Het
Ppp1r9b	T	A	11: 95,001,940	D655E	possibly damaging	Het
Ppt2	A	G	17: 34,626,803		probably null	Het
Prss35	T	A	9: 86,755,374	C66S	probably damaging	Het
Rfc3	A	T	5: 151,651,151	M1K	probably null	Het
Rffl	T	C	11: 82,810,148	D284G	probably damaging	Het
Robo3	T	C	9: 37,429,646	D110G	probably damaging	Het
Rtel1	G	A	2: 181,322,315	V36M	probably damaging	Het
Slc1a7	T	A	4: 108,010,486	I457K	possibly damaging	Het
Smco1	A	G	16: 32,273,723	M71V	probably benign	Het
Snrnp200	G	A	2: 127,227,902	S989N	probably damaging	Het
Spef2	T	A	15: 9,713,219	I356F	probably damaging	Het
Stk24	C	T	14: 121,302,287	A166T	probably damaging	Het
Tada2b	T	C	5: 36,476,767	I156V	probably benign	Het
Tbce	C	T	13: 14,019,742	V111M	probably damaging	Het
Tlnrd1	A	G	7: 83,882,947	L92P	probably damaging	Het
Tnr	T	A	1: 159,886,208	D735E	probably benign	Het
Tram1	T	C	1: 13,579,547	H110R	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,399,157		probably null	Het
Unc5b	C	T	10: 60,783,120	C81Y	probably damaging	Het
Vps13a	G	A	19: 16,703,789	T1041M	probably benign	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
IGL02109:Pms1	APN	1	53207409	missense	probably damaging	0.96
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
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
R8692:Pms1	UTSW	1	53206893	missense	probably benign
R8736:Pms1	UTSW	1	53267894	missense	possibly damaging	0.63
R8738:Pms1	UTSW	1	53282036	missense	possibly damaging	0.67
R8751:Pms1	UTSW	1	53192110	missense	probably benign	0.01
R9102:Pms1	UTSW	1	53267862	missense	probably benign	0.11
R9294:Pms1	UTSW	1	53208057	missense	probably benign
R9648:Pms1	UTSW	1	53275125	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGATGTGCTCCATAGAACCTAC -3'
(R):5'- AAACTTATGCTGTCCTAACTGTTCC -3'

Sequencing Primer
(F):5'- TGTGCTCCATAGAACCTACAGAATG -3'
(R):5'- CCTAACTGTTCCCTTATTAAAATGGC -3'

Posted On

2019-10-24