Mutagenetix > Incidental Mutation

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4608 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

53228346-53336177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53234097 bp (GRCm39)

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]

AlphaFold

Q8K119

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: 109,308,855 (GRCm39)	I74V	unknown	Het
Acss3	T	A	10: 106,802,890 (GRCm39)	I452F	possibly damaging	Het
Adam10	T	C	9: 70,651,173 (GRCm39)	L66P	probably damaging	Het
Adamts18	A	T	8: 114,464,245 (GRCm39)	C738S	probably damaging	Het
Adamts7	T	G	9: 90,056,593 (GRCm39)	S221A	probably damaging	Het
Adrm1	A	G	2: 179,816,648 (GRCm39)		probably benign	Het
Aqp1	T	C	6: 55,313,624 (GRCm39)	V50A	possibly damaging	Het
Aqp4	T	C	18: 15,531,183 (GRCm39)	I193V	probably benign	Het
B130006D01Rik	A	T	11: 95,617,066 (GRCm39)		probably benign	Het
Bbs10	T	G	10: 111,136,681 (GRCm39)	I598S	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Ccdc121rt2	A	G	5: 112,597,764 (GRCm39)	S104G	possibly damaging	Het
Ccnl1	C	T	3: 65,854,131 (GRCm39)		probably benign	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dcdc2a	T	A	13: 25,245,223 (GRCm39)	L100*	probably null	Het
Eif4g3	G	T	4: 137,853,769 (GRCm39)	R618L	probably benign	Het
F5	C	T	1: 164,036,598 (GRCm39)	P1920S	probably benign	Het
Fam187b	T	A	7: 30,677,170 (GRCm39)	N226K	probably benign	Het
Fancc	C	A	13: 63,479,637 (GRCm39)		probably benign	Het
Fastk	G	T	5: 24,648,117 (GRCm39)	P233H	probably damaging	Het
Fbn1	A	C	2: 125,148,420 (GRCm39)	D2609E	probably benign	Het
Fes	G	A	7: 80,036,959 (GRCm39)	R42W	probably damaging	Het
Fmnl2	T	A	2: 52,993,728 (GRCm39)	N374K	possibly damaging	Het
Fpgt	G	A	3: 154,792,333 (GRCm39)	Q565*	probably null	Het
Gckr	A	G	5: 31,465,141 (GRCm39)	D370G	probably damaging	Het
Ggt6	T	C	11: 72,328,769 (GRCm39)	M385T	probably benign	Het
Gm26657	C	A	4: 56,741,114 (GRCm39)	H100N	probably benign	Het
Gsg1l	T	A	7: 125,557,721 (GRCm39)	I136F	probably damaging	Het
Hhip	C	T	8: 80,724,192 (GRCm39)	R350Q	probably damaging	Het
Ints1	C	T	5: 139,745,599 (GRCm39)	S1353N	probably benign	Het
Ints10	G	A	8: 69,263,271 (GRCm39)	R394Q	probably damaging	Het
Ints6	T	G	14: 62,940,678 (GRCm39)	R557S	probably damaging	Het
Ints9	T	A	14: 65,269,729 (GRCm39)	I473N	possibly damaging	Het
Itih4	G	A	14: 30,623,626 (GRCm39)	G915R	probably damaging	Het
Kif1a	C	A	1: 92,952,368 (GRCm39)	A1304S	possibly damaging	Het
Kif21b	C	T	1: 136,075,924 (GRCm39)		probably benign	Het
Klk13	C	A	7: 43,363,284 (GRCm39)	C10*	probably null	Het
Krtap4-8	C	T	11: 99,671,321 (GRCm39)		probably benign	Het
Lef1	T	C	3: 130,978,382 (GRCm39)	S167P	probably benign	Het
Leng8	T	A	7: 4,147,796 (GRCm39)	I607N	probably damaging	Het
Lrch4	T	A	5: 137,637,408 (GRCm39)	L526*	probably null	Het
Memo1	G	A	17: 74,565,456 (GRCm39)	Q36*	probably null	Het
Nod1	C	A	6: 54,920,741 (GRCm39)	A526S	probably damaging	Het
Nostrin	G	A	2: 69,014,243 (GRCm39)	V400M	possibly damaging	Het
Nrip1	T	C	16: 76,089,920 (GRCm39)	T546A	probably benign	Het
Nxf1	A	G	19: 8,740,127 (GRCm39)	D98G	probably benign	Het
Or13a24	A	G	7: 140,154,554 (GRCm39)	M163V	probably benign	Het
Or1l4	T	A	2: 37,092,094 (GRCm39)	Y280*	probably null	Het
Or2h2b-ps1	A	T	17: 37,481,173 (GRCm39)	V20E	probably damaging	Het
Or2t1	A	G	14: 14,328,887 (GRCm38)	M259V	probably benign	Het
Or4c114	G	T	2: 88,904,656 (GRCm39)	P260T	probably benign	Het
Or6aa1	A	T	7: 86,043,718 (GRCm39)		probably null	Het
Osgep	T	C	14: 51,155,378 (GRCm39)	Y60C	probably damaging	Het
P2ry6	A	G	7: 100,587,511 (GRCm39)	Y283H	probably damaging	Het
Pcdha7	A	T	18: 37,108,870 (GRCm39)	S632C	possibly damaging	Het
Qars1	T	A	9: 108,386,625 (GRCm39)		probably null	Het
Rxfp1	T	C	3: 79,594,196 (GRCm39)	N66S	probably damaging	Het
Slc12a5	A	T	2: 164,815,685 (GRCm39)	N67I	probably damaging	Het
Slc1a4	G	T	11: 20,254,348 (GRCm39)	T506K	probably damaging	Het
Stimate	C	A	14: 30,594,490 (GRCm39)		probably benign	Het
Tlr9	T	A	9: 106,102,173 (GRCm39)	I488N	probably damaging	Het
Tmem74	G	T	15: 43,730,554 (GRCm39)	T163K	probably damaging	Het
Uba2	T	C	7: 33,854,021 (GRCm39)	D307G	probably damaging	Het
Uty	C	T	Y: 1,131,134 (GRCm39)	R924Q	probably damaging	Het
Wdr7	C	T	18: 63,910,651 (GRCm39)	T681I	probably benign	Het
Xab2	A	G	8: 3,668,105 (GRCm39)	S158P	probably benign	Het
Ythdc1	T	C	5: 86,970,667 (GRCm39)	S418P	probably damaging	Het
Zfand4	T	A	6: 116,305,195 (GRCm39)	C207*	probably null	Het
Zfp367	C	T	13: 64,283,238 (GRCm39)	D305N	probably damaging	Het
Zfp804b	C	T	5: 6,822,584 (GRCm39)	V160I	probably benign	Het

Other mutations in Pms1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Pms1	APN	1	53,245,715 (GRCm39)	splice site	probably benign
IGL00937:Pms1	APN	1	53,314,410 (GRCm39)	missense	possibly damaging	0.74
IGL01505:Pms1	APN	1	53,246,130 (GRCm39)	missense	probably benign
IGL02109:Pms1	APN	1	53,246,568 (GRCm39)	missense	probably damaging	0.96
IGL02245:Pms1	APN	1	53,246,519 (GRCm39)	missense	probably damaging	1.00
IGL02273:Pms1	APN	1	53,247,156 (GRCm39)	missense	probably damaging	1.00
IGL02339:Pms1	APN	1	53,314,324 (GRCm39)	missense	possibly damaging	0.78
R0157:Pms1	UTSW	1	53,234,196 (GRCm39)	nonsense	probably null
R0530:Pms1	UTSW	1	53,235,972 (GRCm39)	splice site	probably null
R1398:Pms1	UTSW	1	53,246,435 (GRCm39)	missense	possibly damaging	0.88
R1817:Pms1	UTSW	1	53,246,128 (GRCm39)	missense	probably benign	0.02
R1831:Pms1	UTSW	1	53,246,370 (GRCm39)	missense	probably benign	0.00
R1838:Pms1	UTSW	1	53,231,257 (GRCm39)	critical splice donor site	probably null
R1867:Pms1	UTSW	1	53,228,546 (GRCm39)	missense	probably benign	0.36
R1874:Pms1	UTSW	1	53,246,392 (GRCm39)	missense	probably benign	0.16
R1939:Pms1	UTSW	1	53,236,135 (GRCm39)	missense	probably damaging	1.00
R1991:Pms1	UTSW	1	53,321,201 (GRCm39)	missense	probably damaging	1.00
R1993:Pms1	UTSW	1	53,234,174 (GRCm39)	missense	probably benign
R1995:Pms1	UTSW	1	53,234,174 (GRCm39)	missense	probably benign
R2049:Pms1	UTSW	1	53,321,147 (GRCm39)	missense	probably damaging	0.99
R2058:Pms1	UTSW	1	53,314,327 (GRCm39)	missense	probably benign	0.00
R2140:Pms1	UTSW	1	53,321,147 (GRCm39)	missense	probably damaging	0.99
R4078:Pms1	UTSW	1	53,306,948 (GRCm39)	splice site	probably null
R4668:Pms1	UTSW	1	53,228,633 (GRCm39)	nonsense	probably null
R5164:Pms1	UTSW	1	53,246,799 (GRCm39)	missense	probably damaging	0.99
R5200:Pms1	UTSW	1	53,245,916 (GRCm39)	missense	probably benign	0.00
R5397:Pms1	UTSW	1	53,231,279 (GRCm39)	nonsense	probably null
R5745:Pms1	UTSW	1	53,246,861 (GRCm39)	nonsense	probably null
R6440:Pms1	UTSW	1	53,234,180 (GRCm39)	missense	probably damaging	0.98
R6445:Pms1	UTSW	1	53,231,353 (GRCm39)	missense	possibly damaging	0.77
R6802:Pms1	UTSW	1	53,245,951 (GRCm39)	missense	probably benign	0.06
R6975:Pms1	UTSW	1	53,228,590 (GRCm39)	missense	probably damaging	0.99
R7020:Pms1	UTSW	1	53,228,541 (GRCm39)	missense	probably damaging	1.00
R7037:Pms1	UTSW	1	53,246,770 (GRCm39)	missense	possibly damaging	0.95
R7199:Pms1	UTSW	1	53,295,889 (GRCm39)	missense	probably benign	0.02
R7417:Pms1	UTSW	1	53,236,231 (GRCm39)	missense	probably benign	0.00
R7587:Pms1	UTSW	1	53,246,475 (GRCm39)	missense	probably benign	0.00
R7716:Pms1	UTSW	1	53,246,767 (GRCm39)	missense	probably damaging	1.00
R8178:Pms1	UTSW	1	53,246,505 (GRCm39)	missense	probably benign	0.00
R8336:Pms1	UTSW	1	53,245,985 (GRCm39)	missense	probably benign
R8399:Pms1	UTSW	1	53,307,091 (GRCm39)	critical splice acceptor site	probably null
R8692:Pms1	UTSW	1	53,246,052 (GRCm39)	missense	probably benign
R8736:Pms1	UTSW	1	53,307,053 (GRCm39)	missense	possibly damaging	0.63
R8738:Pms1	UTSW	1	53,321,195 (GRCm39)	missense	possibly damaging	0.67
R8751:Pms1	UTSW	1	53,231,269 (GRCm39)	missense	probably benign	0.01
R9102:Pms1	UTSW	1	53,307,021 (GRCm39)	missense	probably benign	0.11
R9294:Pms1	UTSW	1	53,247,216 (GRCm39)	missense	probably benign
R9648:Pms1	UTSW	1	53,314,284 (GRCm39)	missense	probably damaging	1.00

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