Mutagenetix > Incidental Mutation

Incidental Mutation 'R8751:Pms1'

663815

Institutional Source

Beutler Lab

Gene Symbol

Pms1

Ensembl Gene

ENSMUSG00000026098

Gene Name

PMS1 homolog 1, mismatch repair system component

Synonyms

MMRRC Submission

068594-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8751 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53228346-53336177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53231269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 860 (N860S)

Ref Sequence

ENSEMBL: ENSMUSP00000027267 (fasta)

Gene Model

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

AlphaFold

Q8K119

Predicted Effect

probably benign
Transcript: ENSMUST00000027267
AA Change: N860S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000027267
Gene: ENSMUSG00000026098
AA Change: N860S

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: 99.1%
20x: 96.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	T	A	15: 11,215,813 (GRCm39)	I278N	probably damaging	Het
Adcy9	A	G	16: 4,129,492 (GRCm39)	W702R	probably damaging	Het
Adgrf5	G	A	17: 43,748,574 (GRCm39)	V468I	possibly damaging	Het
Ahnak	A	C	19: 8,987,509 (GRCm39)	K2931T	probably damaging	Het
Ank3	C	T	10: 69,761,849 (GRCm39)		probably benign	Het
Birc6	G	A	17: 74,955,135 (GRCm39)	V3480I	probably damaging	Het
Bpifa5	A	T	2: 154,007,432 (GRCm39)	I125L	probably benign	Het
Catsperg2	T	C	7: 29,404,744 (GRCm39)	D773G	possibly damaging	Het
Ccm2l	A	T	2: 152,909,695 (GRCm39)	I16F	probably benign	Het
Cep72	G	A	13: 74,198,303 (GRCm39)	S359F	possibly damaging	Het
Col1a1	A	G	11: 94,838,100 (GRCm39)	N844S	unknown	Het
Col7a1	C	T	9: 108,796,730 (GRCm39)	P1623S	possibly damaging	Het
Crybg1	T	C	10: 43,880,838 (GRCm39)	K117E	probably benign	Het
Csmd3	A	G	15: 47,845,402 (GRCm39)	C54R		Het
Dlg1	A	G	16: 31,600,648 (GRCm39)	T211A	probably benign	Het
Emc1	C	A	4: 139,097,279 (GRCm39)	H724N	possibly damaging	Het
Epg5	A	C	18: 78,008,223 (GRCm39)	N784H	probably benign	Het
Epg5	T	A	18: 78,008,225 (GRCm39)	N784K	probably benign	Het
Epg5	A	T	18: 78,008,224 (GRCm39)	N784I	possibly damaging	Het
Erc2	A	G	14: 27,802,145 (GRCm39)	E771G	possibly damaging	Het
Exo1	T	C	1: 175,719,678 (GRCm39)	V241A	probably benign	Het
Fat4	A	G	3: 38,946,002 (GRCm39)	T1632A	probably benign	Het
Fbxo21	T	A	5: 118,140,127 (GRCm39)	M529K	probably damaging	Het
Fhad1	T	C	4: 141,646,134 (GRCm39)	E276G	probably benign	Het
Frem1	G	A	4: 82,889,015 (GRCm39)	T1069I	probably damaging	Het
Gapvd1	A	C	2: 34,568,078 (GRCm39)	F1429V	probably damaging	Het
Gbp9	T	C	5: 105,229,117 (GRCm39)	E510G	possibly damaging	Het
Gm17087	A	T	17: 8,785,510 (GRCm39)	H64Q	probably damaging	Het
Gm19965	A	T	1: 116,749,867 (GRCm39)	Y516F	unknown	Het
Hdac5	A	T	11: 102,109,280 (GRCm39)	I38N	probably benign	Het
Hectd4	T	A	5: 121,501,838 (GRCm39)	C4190*	probably null	Het
Helb	A	T	10: 119,925,412 (GRCm39)	D988E	probably benign	Het
Herc6	C	T	6: 57,639,359 (GRCm39)	S909L	probably damaging	Het
Ice1	A	T	13: 70,751,010 (GRCm39)	V1692E	probably damaging	Het
Ino80	A	G	2: 119,237,389 (GRCm39)	Y1107H	probably benign	Het
Kif9	A	T	9: 110,330,724 (GRCm39)	Y350F	probably benign	Het
Lct	T	A	1: 128,221,534 (GRCm39)	T1570S	probably benign	Het
Lias	T	A	5: 65,557,193 (GRCm39)	N203K	probably benign	Het
Lrrtm4	A	G	6: 79,999,092 (GRCm39)	N168S	probably damaging	Het
Ltf	A	T	9: 110,860,192 (GRCm39)	K538*	probably null	Het
Lysmd4	A	G	7: 66,875,787 (GRCm39)	D150G	probably benign	Het
Magi2	A	G	5: 20,739,462 (GRCm39)	D572G	probably benign	Het
Meiob	T	C	17: 25,047,008 (GRCm39)		probably null	Het
Ncor2	T	C	5: 125,115,964 (GRCm39)	Y130C		Het
Ntmt2	T	A	1: 163,544,738 (GRCm39)	T82S	probably benign	Het
Ofcc1	A	G	13: 40,409,072 (GRCm39)	S118P	probably benign	Het
Or10g3	A	G	14: 52,610,420 (GRCm39)	F30S	probably benign	Het
Or2t45	A	G	11: 58,669,213 (GRCm39)	T87A	probably benign	Het
Or8b55	T	A	9: 38,727,335 (GRCm39)	C179S	probably damaging	Het
Parp14	A	T	16: 35,677,181 (GRCm39)	M929K	probably benign	Het
Pcdh8	T	C	14: 80,006,229 (GRCm39)	E778G	probably benign	Het
Pgls	T	C	8: 72,047,838 (GRCm39)	V211A	probably benign	Het
Pkd2	T	A	5: 104,637,151 (GRCm39)	M588K	probably damaging	Het
Psg19	C	T	7: 18,530,888 (GRCm39)	V89M	probably benign	Het
Reln	T	C	5: 22,147,672 (GRCm39)	H2426R	probably benign	Het
Ripor2	T	A	13: 24,885,050 (GRCm39)	N428K	possibly damaging	Het
Slc12a4	C	T	8: 106,676,285 (GRCm39)		probably null	Het
Slc25a3	T	C	10: 90,952,960 (GRCm39)	I314V	probably benign	Het
Slc29a1	C	A	17: 45,900,688 (GRCm39)	V125F	probably benign	Het
Slc9a5	T	A	8: 106,085,981 (GRCm39)	C583S	probably damaging	Het
Slco2b1	G	A	7: 99,309,259 (GRCm39)	Q691*	probably null	Het
Smg7	T	C	1: 152,719,129 (GRCm39)	D874G	probably damaging	Het
Spef2	T	A	15: 9,729,723 (GRCm39)	K132*	probably null	Het
Tap1	A	G	17: 34,412,133 (GRCm39)	K446R	probably benign	Het
Tcam1	A	T	11: 106,176,443 (GRCm39)	T390S	possibly damaging	Het
Tnik	A	G	3: 28,666,057 (GRCm39)	N687D	probably damaging	Het
Trim42	T	C	9: 97,251,852 (GRCm39)	R16G	possibly damaging	Het
Vcp	A	C	4: 42,984,658 (GRCm39)	L411W	probably damaging	Het
Vma21-ps	C	A	4: 52,496,973 (GRCm39)	G91V	probably damaging	Het
Vmn1r23	T	C	6: 57,903,452 (GRCm39)	T109A	probably benign	Het
Vmn2r67	C	T	7: 84,801,450 (GRCm39)	C162Y	probably benign	Het
Vmn2r-ps117	A	G	17: 19,044,021 (GRCm39)	T366A	probably benign	Het
Zfp804a	A	G	2: 82,066,190 (GRCm39)	K54E	probably damaging	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
R4608:Pms1	UTSW	1	53,234,097 (GRCm39)	missense	possibly damaging	0.80
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
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'- TGCGCTCGCTCAGAAACTTC -3'
(R):5'- TGTTTCCAATGGACATGTTCTG -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- TTTAACTAACTTAACTATGCCTCTGC -3'

Posted On

2021-03-08