Mutagenetix > Incidental Mutations

Incidental Mutation 'R4608:Pms1'

350853

Institutional Source

Beutler Lab

Gene Symbol

Pms1

Ensembl Gene

ENSMUSG00000026098

Gene Name

PMS1 homolog 1, mismatch repair system component

Synonyms

MMRRC Submission

041819-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4608 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

53189187-53297018 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53194938 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 806 (R806S)

Ref Sequence

ENSEMBL: ENSMUSP00000027267 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027267
AA Change: R806S

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027267
Gene: ENSMUSG00000026098
AA Change: R806S

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

SMART Domains

Protein: ENSMUSP00000119632
Gene: ENSMUSG00000026098

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

noncoding transcript
Transcript: ENSMUST00000191402

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (80/80)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930022D16Rik	A	G	11: 109,418,029	I74V	unknown	Het
Acss3	T	A	10: 106,967,029	I452F	possibly damaging	Het
Adam10	T	C	9: 70,743,891	L66P	probably damaging	Het
Adamts18	A	T	8: 113,737,613	C738S	probably damaging	Het
Adamts7	T	G	9: 90,174,540	S221A	probably damaging	Het
Adrm1	A	G	2: 180,174,855		probably benign	Het
Aqp1	T	C	6: 55,336,639	V50A	possibly damaging	Het
Aqp4	T	C	18: 15,398,126	I193V	probably benign	Het
B130006D01Rik	A	T	11: 95,726,240		probably benign	Het
Bbs10	T	G	10: 111,300,820	I598S	probably damaging	Het
Bbs10	A	G	10: 111,301,134	K703E	probably benign	Het
Ccnl1	C	T	3: 65,946,710		probably benign	Het
Crocc2	G	A	1: 93,168,794	V24M	possibly damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dcdc2a	T	A	13: 25,061,240	L100*	probably null	Het
Eif4g3	G	T	4: 138,126,458	R618L	probably benign	Het
F5	C	T	1: 164,209,029	P1920S	probably benign	Het
Fam187b	T	A	7: 30,977,745	N226K	probably benign	Het
Fancc	C	A	13: 63,331,823		probably benign	Het
Fastk	G	T	5: 24,443,119	P233H	probably damaging	Het
Fbn1	A	C	2: 125,306,500	D2609E	probably benign	Het
Fes	G	A	7: 80,387,211	R42W	probably damaging	Het
Fmnl2	T	A	2: 53,103,716	N374K	possibly damaging	Het
Fpgt	G	A	3: 155,086,696	Q565*	probably null	Het
Gckr	A	G	5: 31,307,797	D370G	probably damaging	Het
Ggt6	T	C	11: 72,437,943	M385T	probably benign	Het
Gm26657	C	A	4: 56,741,114	H100N	probably benign	Het
Gm6588	A	G	5: 112,449,898	S104G	possibly damaging	Het
Gsg1l	T	A	7: 125,958,549	I136F	probably damaging	Het
Hhip	C	T	8: 79,997,563	R350Q	probably damaging	Het
Ints1	C	T	5: 139,759,844	S1353N	probably benign	Het
Ints10	G	A	8: 68,810,619	R394Q	probably damaging	Het
Ints6	T	G	14: 62,703,229	R557S	probably damaging	Het
Ints9	T	A	14: 65,032,280	I473N	possibly damaging	Het
Itih4	G	A	14: 30,901,669	G915R	probably damaging	Het
Kif1a	C	A	1: 93,024,646	A1304S	possibly damaging	Het
Kif21b	C	T	1: 136,148,186		probably benign	Het
Klk13	C	A	7: 43,713,860	C10*	probably null	Het
Krtap4-8	C	T	11: 99,780,495		probably benign	Het
Lef1	T	C	3: 131,184,733	S167P	probably benign	Het
Leng8	T	A	7: 4,144,797	I607N	probably damaging	Het
Lrch4	T	A	5: 137,639,146	L526*	probably null	Het
Memo1	G	A	17: 74,258,461	Q36*	probably null	Het
Nod1	C	A	6: 54,943,756	A526S	probably damaging	Het
Nostrin	G	A	2: 69,183,899	V400M	possibly damaging	Het
Nrip1	T	C	16: 76,293,032	T546A	probably benign	Het
Nxf1	A	G	19: 8,762,763	D98G	probably benign	Het
Olfr1219	G	T	2: 89,074,312	P260T	probably benign	Het
Olfr303	A	T	7: 86,394,510		probably null	Het
Olfr31	A	G	14: 14,328,887	M259V	probably benign	Het
Olfr365	T	A	2: 37,202,082	Y280*	probably null	Het
Olfr538	A	G	7: 140,574,641	M163V	probably benign	Het
Olfr753-ps1	A	T	17: 37,170,282	V20E	probably damaging	Het
Osgep	T	C	14: 50,917,921	Y60C	probably damaging	Het
P2ry6	A	G	7: 100,938,304	Y283H	probably damaging	Het
Pcdha7	A	T	18: 36,975,817	S632C	possibly damaging	Het
Qars	T	A	9: 108,509,426		probably null	Het
Rxfp1	T	C	3: 79,686,889	N66S	probably damaging	Het
Slc12a5	A	T	2: 164,973,765	N67I	probably damaging	Het
Slc1a4	G	T	11: 20,304,348	T506K	probably damaging	Het
Tlr9	T	A	9: 106,224,974	I488N	probably damaging	Het
Tmem110	C	A	14: 30,872,533		probably benign	Het
Tmem74	G	T	15: 43,867,158	T163K	probably damaging	Het
Uba2	T	C	7: 34,154,596	D307G	probably damaging	Het
Uty	C	T	Y: 1,131,134	R924Q	probably damaging	Het
Wdr7	C	T	18: 63,777,580	T681I	probably benign	Het
Xab2	A	G	8: 3,618,105	S158P	probably benign	Het
Ythdc1	T	C	5: 86,822,808	S418P	probably damaging	Het
Zfand4	T	A	6: 116,328,234	C207*	probably null	Het
Zfp367	C	T	13: 64,135,424	D305N	probably damaging	Het
Zfp804b	C	T	5: 6,772,584	V160I	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
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

Predicted Primers

PCR Primer
(F):5'- ACAGCAAGATCAGTGATCACTTG -3'
(R):5'- CGGCACTTTGTGTAGTGGTAAC -3'

Sequencing Primer
(F):5'- TGATCACTTGAGCACCCTCTGAAG -3'
(R):5'- TGGTAACACTTTCAAAACACCCTTGG -3'

Posted On

2015-10-08