Mutagenetix > Incidental Mutations

Incidental Mutation 'R7020:Pms1'

545544

Institutional Source

Beutler Lab

Gene Symbol

Pms1

Ensembl Gene

ENSMUSG00000026098

Gene Name

PMS1 homolog 1, mismatch repair system component

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7020 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53189187-53297018 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53189382 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 902 (H902Q)

Ref Sequence

ENSEMBL: ENSMUSP00000027267 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027267] [ENSMUST00000072235] [ENSMUST00000190748]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027267
AA Change: H902Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027267
Gene: ENSMUSG00000026098
AA Change: H902Q

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: ENSMUST00000072235

SMART Domains

Protein: ENSMUSP00000072089
Gene: ENSMUSG00000060715

Domain	Start	End	E-Value	Type
coiled coil region	38	68	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190748

SMART Domains

Protein: ENSMUSP00000139938
Gene: ENSMUSG00000060715

Domain	Start	End	E-Value	Type
coiled coil region	38	68	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (52/52)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	C	T	12: 110,668,541	G188R	probably damaging	Het
Abhd3	T	C	18: 10,645,127	Y384C	probably damaging	Het
Cd209b	T	A	8: 3,918,783	E282V	probably damaging	Het
Cep350	A	C	1: 155,928,331	L1002W	probably damaging	Het
Clcn1	T	C	6: 42,298,820	V292A	probably damaging	Het
Clcn7	T	C	17: 25,146,351	I107T	possibly damaging	Het
Cntrob	A	G	11: 69,303,092		probably null	Het
Crb1	A	T	1: 139,231,603	S1294T	possibly damaging	Het
Cst13	T	G	2: 148,823,209	Y41*	probably null	Het
Gp1ba	A	G	11: 70,640,313		probably benign	Het
Gucy2e	A	T	11: 69,232,793	L427I	probably benign	Het
Gucy2g	A	G	19: 55,233,050	S340P	probably damaging	Het
Herc1	A	G	9: 66,486,078	T4080A	probably benign	Het
Iglon5	A	T	7: 43,476,895	C195S	probably damaging	Het
Itgae	A	G	11: 73,111,369	T100A	probably damaging	Het
Jarid2	C	T	13: 44,884,824	S205L	probably damaging	Het
Macrod2	A	T	2: 142,389,875	*424C	probably null	Het
Map2k6	A	T	11: 110,506,714		probably benign	Het
Muc4	A	T	16: 32,751,810	K563*	probably null	Het
Myh7b	T	C	2: 155,631,751	I1568T	possibly damaging	Het
Myo15b	G	A	11: 115,866,667	W1114*	probably null	Het
Mypn	T	C	10: 63,192,510	Y258C	probably damaging	Het
Notch1	T	C	2: 26,481,574	T288A	possibly damaging	Het
Npc1	C	T	18: 12,198,537	G859R	probably damaging	Het
Olfm2	T	A	9: 20,668,568	R326W	probably damaging	Het
Olfr1000	A	G	2: 85,608,632	S93P	probably benign	Het
Olfr1043	A	G	2: 86,162,019	I310T	probably benign	Het
Olfr13	T	C	6: 43,174,162	Y59H	possibly damaging	Het
Ovol1	G	A	19: 5,560,233	P23L	probably damaging	Het
Pappa2	C	A	1: 158,848,009	V1056F	probably damaging	Het
Pik3ca	T	C	3: 32,436,279	L25S	probably damaging	Het
Pla2r1	T	C	2: 60,447,399	H860R	possibly damaging	Het
Ptgs1	T	G	2: 36,251,029	L496R	probably damaging	Het
Ralgapa2	A	T	2: 146,346,718	Y1381*	probably null	Het
Rtl1	T	C	12: 109,592,315	Q1030R	possibly damaging	Het
Ryr3	T	A	2: 112,753,078	Y2816F	probably benign	Het
Sh2b2	T	C	5: 136,224,299	T340A	possibly damaging	Het
Slc30a5	T	A	13: 100,824,913		probably null	Het
Spta1	T	C	1: 174,209,352	L1143P	probably damaging	Het
St8sia5	T	C	18: 77,246,180	I178T	probably damaging	Het
Tap2	A	G	17: 34,214,414	N517S	possibly damaging	Het
Tcp11	A	G	17: 28,071,705	Y227H	possibly damaging	Het
Usp34	A	G	11: 23,393,954	D1411G	probably benign	Het
Vmn2r105	A	G	17: 20,209,074	L580P	probably damaging	Het
Wdr19	A	G	5: 65,256,314	E1200G	probably damaging	Het
Xirp2	T	C	2: 67,525,569	V3558A	probably benign	Het
Xpo7	T	C	14: 70,666,023	N1082S	probably benign	Het
Zbtb49	A	T	5: 38,213,367	L390*	probably null	Het
Zfp639	C	A	3: 32,520,112	D295E	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- GGAGCCTACAACCTACAATTGG -3'
(R):5'- AATAGTGTGTCTCTTCTTCAGGGTC -3'

Sequencing Primer
(F):5'- GCCTACAACCTACAATTGGTTTGAAG -3'
(R):5'- CTTCAGGGTCTATCAGGATGAAAC -3'

Posted On

2019-05-13