Mutagenetix > Incidental Mutation

Incidental Mutation 'R7037:Pms1'

546741

Institutional Source

Beutler Lab

Gene Symbol

Pms1

Ensembl Gene

ENSMUSG00000026098

Gene Name

PMS1 homolog 1, mismatch repair system component

Synonyms

MMRRC Submission

045137-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7037 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53228346-53336177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53246770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 311 (T311A)

Ref Sequence

ENSEMBL: ENSMUSP00000119632 (fasta)

Gene Model

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

AlphaFold

Q8K119

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027267
AA Change: T311A

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027267
Gene: ENSMUSG00000026098
AA Change: T311A

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

possibly damaging
Transcript: ENSMUST00000135246
AA Change: T311A

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119632
Gene: ENSMUSG00000026098
AA Change: T311A

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: 99.2%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	A	T	7: 119,367,266 (GRCm39)	N33I	probably damaging	Het
Ahnak2	A	T	12: 112,740,712 (GRCm39)	V314D	probably damaging	Het
Arl14epl	T	G	18: 47,065,510 (GRCm39)	C92G	probably benign	Het
Atp6v1h	T	A	1: 5,220,215 (GRCm39)	M423K	possibly damaging	Het
Baiap3	G	A	17: 25,462,814 (GRCm39)	R1075C	probably benign	Het
Baz2b	C	T	2: 59,764,014 (GRCm39)		probably null	Het
Bicral	T	C	17: 47,135,560 (GRCm39)	H550R	probably benign	Het
C1rl	A	G	6: 124,485,598 (GRCm39)	Y323C	probably damaging	Het
Ccr9	T	A	9: 123,609,036 (GRCm39)	H239Q	possibly damaging	Het
Cdh16	T	A	8: 105,344,267 (GRCm39)	R91*	probably null	Het
Coro1c	A	G	5: 113,983,457 (GRCm39)	F357S	possibly damaging	Het
Cpsf4	G	A	5: 145,112,939 (GRCm39)	R141Q	possibly damaging	Het
Cryzl2	G	A	1: 157,298,318 (GRCm39)	V236I	probably damaging	Het
Cttnbp2	T	C	6: 18,435,117 (GRCm39)	E247G	probably damaging	Het
Dbr1	T	A	9: 99,458,621 (GRCm39)		probably null	Het
Dclk1	T	C	3: 55,370,469 (GRCm39)	S23P	probably damaging	Het
Dpyd	A	T	3: 118,692,938 (GRCm39)	I361F	probably benign	Het
Elac2	A	G	11: 64,874,537 (GRCm39)	E218G	probably benign	Het
Eml4	T	A	17: 83,732,756 (GRCm39)	D136E	probably benign	Het
Foxred1	A	T	9: 35,118,844 (GRCm39)	S223T	probably benign	Het
Garin5b	G	T	7: 4,761,584 (GRCm39)		probably benign	Het
Gask1a	G	T	9: 121,794,592 (GRCm39)	V249L	possibly damaging	Het
Gm11595	A	G	11: 99,663,474 (GRCm39)	C69R	unknown	Het
Gna14	A	T	19: 16,511,128 (GRCm39)	H59L		Het
H2-Ab1	T	A	17: 34,486,963 (GRCm39)	I239N	probably damaging	Het
Ints7	T	C	1: 191,351,717 (GRCm39)	S809P	probably benign	Het
Itgb4	T	A	11: 115,896,391 (GRCm39)	Y1379*	probably null	Het
Kank1	A	G	19: 25,407,705 (GRCm39)	D1233G	probably damaging	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Lrrc66	A	T	5: 73,764,504 (GRCm39)	D846E	probably benign	Het
Lyst	A	G	13: 13,791,251 (GRCm39)	H38R	probably damaging	Het
Mc3r	T	C	2: 172,091,554 (GRCm39)	F259L	probably damaging	Het
Med25	A	G	7: 44,532,206 (GRCm39)	Y384H	probably damaging	Het
Met	A	T	6: 17,547,127 (GRCm39)		probably benign	Het
Mmp16	T	C	4: 18,116,148 (GRCm39)	V584A	possibly damaging	Het
Mrgprb3	A	G	7: 48,292,942 (GRCm39)	L203P	probably damaging	Het
Mus81	A	G	19: 5,536,108 (GRCm39)	L185P	probably damaging	Het
Naaa	A	G	5: 92,424,934 (GRCm39)	V75A	possibly damaging	Het
Obscn	T	A	11: 58,934,755 (GRCm39)	T5292S	probably damaging	Het
Obscn	T	C	11: 58,943,430 (GRCm39)	S4801G	probably damaging	Het
Or2ag19	T	C	7: 106,444,543 (GRCm39)	S242P	probably damaging	Het
Otof	T	C	5: 30,538,882 (GRCm39)	D1112G	probably benign	Het
Pals1	T	A	12: 78,843,973 (GRCm39)	I59N	probably damaging	Het
Pbx4	A	G	8: 70,317,525 (GRCm39)	R170G	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Plce1	A	T	19: 38,690,461 (GRCm39)	D715V	probably damaging	Het
Popdc2	A	G	16: 38,194,629 (GRCm39)	D350G	probably damaging	Het
Prex1	A	G	2: 166,429,100 (GRCm39)	V661A	probably benign	Het
Ptbp2	A	G	3: 119,545,557 (GRCm39)	Y130H	probably damaging	Het
Rev3l	C	T	10: 39,727,971 (GRCm39)	R2707W	probably damaging	Het
Rpl37	G	A	15: 5,147,185 (GRCm39)	R75K	probably null	Het
Ryr3	T	A	2: 112,779,475 (GRCm39)	R259*	probably null	Het
Scai	A	T	2: 39,080,633 (GRCm39)	S8T	probably benign	Het
Scn4a	C	A	11: 106,211,726 (GRCm39)	L1430F	probably damaging	Het
Sema5a	A	G	15: 32,686,993 (GRCm39)	K1035R	probably damaging	Het
Siah3	A	G	14: 75,763,025 (GRCm39)	H92R	probably benign	Het
Smc4	G	A	3: 68,925,528 (GRCm39)	V342I	possibly damaging	Het
Spata31d1a	C	T	13: 59,848,138 (GRCm39)	C1330Y	possibly damaging	Het
St18	C	A	1: 6,873,260 (GRCm39)	H332N	possibly damaging	Het
Sycp1	T	A	3: 102,806,250 (GRCm39)	E480D	possibly damaging	Het
Tex14	A	T	11: 87,388,741 (GRCm39)	I323F	probably damaging	Het
Tm7sf2	A	T	19: 6,114,107 (GRCm39)		probably null	Het
Tmem241	G	T	18: 12,246,463 (GRCm39)	H62Q	probably benign	Het
Tmem54	T	A	4: 129,004,594 (GRCm39)		probably null	Het
Tomm34	A	G	2: 163,912,398 (GRCm39)	L39P	probably damaging	Het
Triml2	T	A	8: 43,646,573 (GRCm39)	V354D	probably damaging	Het
Usp19	T	C	9: 108,374,157 (GRCm39)	I738T	possibly damaging	Het
Utp25	A	C	1: 192,803,031 (GRCm39)		probably null	Het
Utrn	T	A	10: 12,702,514 (GRCm39)		probably null	Het
Zfp1005	G	T	2: 150,108,376 (GRCm39)	V46F	possibly 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
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'- TGGGTAGTGGTCCGTAACAG -3'
(R):5'- TTCTTCCCAAAGCACGATGC -3'

Sequencing Primer
(F):5'- TGGTCCGTAACAGGTCATCATCAG -3'
(R):5'- GTCCTGCAAGAATGTCTGTACCAAG -3'

Posted On

2019-05-13