Mutagenetix > Incidental Mutation

Incidental Mutation 'R9294:Pms1'

704427

Institutional Source

Beutler Lab

Gene Symbol

Pms1

Ensembl Gene

ENSMUSG00000026098

Gene Name

PMS1 homolog 1, mismatch repair system component

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9294 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53189187-53297018 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53208057 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 243 (H243R)

Ref Sequence

ENSEMBL: ENSMUSP00000027267 (fasta)

Gene Model

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

AlphaFold

Q8K119

Predicted Effect

probably benign
Transcript: ENSMUST00000027267
AA Change: H243R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027267
Gene: ENSMUSG00000026098
AA Change: H243R

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
AA Change: H243R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119632
Gene: ENSMUSG00000026098
AA Change: H243R

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: 99.9%
10x: 99.7%
20x: 98.8%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	G	18: 38,261,076 (GRCm38)	L442R	probably damaging	Het
1700067K01Rik	A	G	8: 84,003,379 (GRCm38)	Y165C	probably damaging	Het
2410089E03Rik	T	C	15: 8,203,327 (GRCm38)	V1110A	probably benign	Het
2810474O19Rik	T	A	6: 149,326,432 (GRCm38)	N325K	probably benign	Het
4930452B06Rik	A	G	14: 8,578,361 (GRCm38)	I127T	possibly damaging	Het
Abcb11	T	A	2: 69,265,496 (GRCm38)	K833N	possibly damaging	Het
Abcb1a	T	A	5: 8,686,171 (GRCm38)	M188K	probably benign	Het
Akap1	A	T	11: 88,837,140 (GRCm38)	V672D	probably damaging	Het
Anapc4	A	G	5: 52,864,525 (GRCm38)	T650A	possibly damaging	Het
Ash1l	C	A	3: 88,982,990 (GRCm38)	S725R	possibly damaging	Het
Axdnd1	T	A	1: 156,420,347 (GRCm38)	K28*	probably null	Het
C8b	C	A	4: 104,786,995 (GRCm38)	H286Q	probably benign	Het
Cacna2d1	A	G	5: 16,012,398 (GRCm38)	K34E	probably damaging	Het
Ccdc14	T	A	16: 34,697,358 (GRCm38)	H154Q	probably damaging	Het
Ccdc184	A	G	15: 98,168,512 (GRCm38)	D66G	probably damaging	Het
Ccdc62	A	G	5: 123,954,709 (GRCm38)	I586V	possibly damaging	Het
Chadl	A	T	15: 81,694,490 (GRCm38)	C313S	probably damaging	Het
Clec14a	C	A	12: 58,268,750 (GRCm38)	A29S	probably damaging	Het
Col26a1	C	T	5: 136,757,754 (GRCm38)	G161D	probably benign	Het
Ctbp2	A	G	7: 133,014,232 (GRCm38)	S325P	probably damaging	Het
Dcaf13	A	G	15: 39,130,292 (GRCm38)	D260G	possibly damaging	Het
Dhx37	G	A	5: 125,422,672 (GRCm38)	P575L	probably benign	Het
Dnajc6	T	C	4: 101,550,857 (GRCm38)		probably null	Het
Eapp	T	C	12: 54,690,276 (GRCm38)	T145A	unknown	Het
Efcab5	A	G	11: 77,121,238 (GRCm38)	M730T	probably benign	Het
Eif4g3	T	A	4: 138,190,657 (GRCm38)	D1305E	probably damaging	Het
Endou	A	T	15: 97,712,065 (GRCm38)	V450E	probably benign	Het
F10	A	T	8: 13,048,177 (GRCm38)	K127*	probably null	Het
Fbxw21	A	G	9: 109,143,762 (GRCm38)	F368S	probably damaging	Het
Fezf1	A	T	6: 23,245,798 (GRCm38)	L456Q	possibly damaging	Het
Foxo3	C	T	10: 42,197,025 (GRCm38)	V499M	probably damaging	Het
Fyco1	A	C	9: 123,794,813 (GRCm38)	C1384G	probably damaging	Het
Galnt6	G	T	15: 100,704,151 (GRCm38)	S258R	possibly damaging	Het
Gemin5	A	G	11: 58,137,748 (GRCm38)	V882A	probably benign	Het
Gm10750	A	G	2: 149,016,187 (GRCm38)	L48P	unknown	Het
Gm11639	A	G	11: 104,831,300 (GRCm38)	I1913V	probably benign	Het
Gm16503	T	A	4: 147,541,114 (GRCm38)	F22I	unknown	Het
Hdac10	A	G	15: 89,126,277 (GRCm38)	C281R	probably damaging	Het
Hikeshi	T	C	7: 89,935,760 (GRCm38)	S79G	probably damaging	Het
Ifitm2	AG	A	7: 140,955,901 (GRCm38)		probably null	Het
Itpr3	A	G	17: 27,111,217 (GRCm38)	E1603G	probably damaging	Het
Lrrc37a	A	T	11: 103,504,533 (GRCm38)	V22E	probably benign	Het
Man1a	C	T	10: 53,933,491 (GRCm38)		probably null	Het
Mdga1	A	G	17: 29,839,897 (GRCm38)	L5P	probably damaging	Het
Mettl7a1	A	G	15: 100,313,133 (GRCm38)	E213G	probably damaging	Het
Mup6	A	G	4: 60,004,838 (GRCm38)	I76M	probably benign	Het
Nbea	A	T	3: 56,091,092 (GRCm38)	M98K	probably benign	Het
Nckap1l	A	G	15: 103,473,539 (GRCm38)	E454G	probably damaging	Het
Notch3	A	T	17: 32,143,691 (GRCm38)	L1320Q	probably benign	Het
Nrn1	A	T	13: 36,726,674 (GRCm38)	L128H	probably damaging	Het
Numa1	T	C	7: 101,995,416 (GRCm38)	S200P	possibly damaging	Het
Numa1	A	G	7: 102,012,796 (GRCm38)	D1898G	probably damaging	Het
Olfr1124	G	A	2: 87,434,666 (GRCm38)	A60T	probably benign	Het
Olfr152	A	C	2: 87,782,523 (GRCm38)		probably null	Het
Olfr366	T	C	2: 37,220,110 (GRCm38)	I207T	possibly damaging	Het
Olfr700	A	T	7: 106,806,398 (GRCm38)	S21R	possibly damaging	Het
P2ry6	A	T	7: 100,938,926 (GRCm38)	Y75*	probably null	Het
Pbrm1	T	A	14: 31,084,803 (GRCm38)	C1062*	probably null	Het
Pcdh15	A	G	10: 74,643,728 (GRCm38)	E557G	unknown	Het
Pcdh7	T	C	5: 57,721,335 (GRCm38)	L744P	probably benign	Het
Plekhg3	A	T	12: 76,562,278 (GRCm38)	I142L	possibly damaging	Het
Plk4	C	T	3: 40,811,891 (GRCm38)	H695Y	probably damaging	Het
Prdm14	T	C	1: 13,122,483 (GRCm38)	D344G	possibly damaging	Het
R3hdml	A	G	2: 163,502,332 (GRCm38)	I214V	probably benign	Het
Rab11fip5	T	C	6: 85,348,710 (GRCm38)	N238S	probably benign	Het
Sacs	T	A	14: 61,240,319 (GRCm38)	Y732N	possibly damaging	Het
Scfd1	T	A	12: 51,393,866 (GRCm38)	M187K	possibly damaging	Het
Serpina1d	A	G	12: 103,767,998 (GRCm38)	C16R	probably damaging	Het
Slc2a12	T	C	10: 22,665,095 (GRCm38)	I283T	possibly damaging	Het
Smarca5	A	G	8: 80,719,803 (GRCm38)	Y423H	probably damaging	Het
Srrm3	C	A	5: 135,868,261 (GRCm38)	A366E	unknown	Het
St7	A	T	6: 17,844,914 (GRCm38)	K134*	probably null	Het
St8sia5	T	G	18: 77,254,829 (GRCm38)	C412G	probably damaging	Het
Tanc2	A	T	11: 105,886,458 (GRCm38)	I821F	probably damaging	Het
Tbrg4	A	G	11: 6,624,204 (GRCm38)	M6T	probably benign	Het
Tcf20	A	T	15: 82,852,696 (GRCm38)	I1518N	probably benign	Het
Tctn3	A	G	19: 40,607,276 (GRCm38)	V355A	probably benign	Het
Tenm2	A	T	11: 36,024,500 (GRCm38)	F2070Y	probably damaging	Het
Tex2	A	G	11: 106,568,535 (GRCm38)	V23A	probably damaging	Het
Thrsp	C	G	7: 97,417,074 (GRCm38)	E144Q	probably damaging	Het
Top2a	A	C	11: 99,001,078 (GRCm38)	S1114A	probably benign	Het
Tpm1	A	G	9: 67,029,716 (GRCm38)	Y267H	probably benign	Het
Txndc2	G	T	17: 65,639,024 (GRCm38)	P53T	unknown	Het
Ugt2b36	A	T	5: 87,081,017 (GRCm38)	I389N	probably damaging	Het
Virma	C	T	4: 11,513,507 (GRCm38)	R454*	probably null	Het
Vwa3b	T	A	1: 37,035,801 (GRCm38)	H16Q	probably damaging	Het
Zbp1	A	G	2: 173,210,643 (GRCm38)	M240T	possibly damaging	Het

Other mutations in Pms1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Pms1	APN	1	53,206,556 (GRCm38)	splice site	probably benign
IGL00937:Pms1	APN	1	53,275,251 (GRCm38)	missense	possibly damaging	0.74
IGL01505:Pms1	APN	1	53,206,971 (GRCm38)	missense	probably benign
IGL02109:Pms1	APN	1	53,207,409 (GRCm38)	missense	probably damaging	0.96
IGL02245:Pms1	APN	1	53,207,360 (GRCm38)	missense	probably damaging	1.00
IGL02273:Pms1	APN	1	53,207,997 (GRCm38)	missense	probably damaging	1.00
IGL02339:Pms1	APN	1	53,275,165 (GRCm38)	missense	possibly damaging	0.78
R0157:Pms1	UTSW	1	53,195,037 (GRCm38)	nonsense	probably null
R0530:Pms1	UTSW	1	53,196,813 (GRCm38)	splice site	probably null
R1398:Pms1	UTSW	1	53,207,276 (GRCm38)	missense	possibly damaging	0.88
R1817:Pms1	UTSW	1	53,206,969 (GRCm38)	missense	probably benign	0.02
R1831:Pms1	UTSW	1	53,207,211 (GRCm38)	missense	probably benign	0.00
R1838:Pms1	UTSW	1	53,192,098 (GRCm38)	critical splice donor site	probably null
R1867:Pms1	UTSW	1	53,189,387 (GRCm38)	missense	probably benign	0.36
R1874:Pms1	UTSW	1	53,207,233 (GRCm38)	missense	probably benign	0.16
R1939:Pms1	UTSW	1	53,196,976 (GRCm38)	missense	probably damaging	1.00
R1991:Pms1	UTSW	1	53,282,042 (GRCm38)	missense	probably damaging	1.00
R1993:Pms1	UTSW	1	53,195,015 (GRCm38)	missense	probably benign
R1995:Pms1	UTSW	1	53,195,015 (GRCm38)	missense	probably benign
R2049:Pms1	UTSW	1	53,281,988 (GRCm38)	missense	probably damaging	0.99
R2058:Pms1	UTSW	1	53,275,168 (GRCm38)	missense	probably benign	0.00
R2140:Pms1	UTSW	1	53,281,988 (GRCm38)	missense	probably damaging	0.99
R4078:Pms1	UTSW	1	53,267,789 (GRCm38)	splice site	probably null
R4608:Pms1	UTSW	1	53,194,938 (GRCm38)	missense	possibly damaging	0.80
R4668:Pms1	UTSW	1	53,189,474 (GRCm38)	nonsense	probably null
R5164:Pms1	UTSW	1	53,207,640 (GRCm38)	missense	probably damaging	0.99
R5200:Pms1	UTSW	1	53,206,757 (GRCm38)	missense	probably benign	0.00
R5397:Pms1	UTSW	1	53,192,120 (GRCm38)	nonsense	probably null
R5745:Pms1	UTSW	1	53,207,702 (GRCm38)	nonsense	probably null
R6440:Pms1	UTSW	1	53,195,021 (GRCm38)	missense	probably damaging	0.98
R6445:Pms1	UTSW	1	53,192,194 (GRCm38)	missense	possibly damaging	0.77
R6802:Pms1	UTSW	1	53,206,792 (GRCm38)	missense	probably benign	0.06
R6975:Pms1	UTSW	1	53,189,431 (GRCm38)	missense	probably damaging	0.99
R7020:Pms1	UTSW	1	53,189,382 (GRCm38)	missense	probably damaging	1.00
R7037:Pms1	UTSW	1	53,207,611 (GRCm38)	missense	possibly damaging	0.95
R7199:Pms1	UTSW	1	53,256,730 (GRCm38)	missense	probably benign	0.02
R7417:Pms1	UTSW	1	53,197,072 (GRCm38)	missense	probably benign	0.00
R7587:Pms1	UTSW	1	53,207,316 (GRCm38)	missense	probably benign	0.00
R7716:Pms1	UTSW	1	53,207,608 (GRCm38)	missense	probably damaging	1.00
R8178:Pms1	UTSW	1	53,207,346 (GRCm38)	missense	probably benign	0.00
R8336:Pms1	UTSW	1	53,206,826 (GRCm38)	missense	probably benign
R8399:Pms1	UTSW	1	53,267,932 (GRCm38)	critical splice acceptor site	probably null
R8692:Pms1	UTSW	1	53,206,893 (GRCm38)	missense	probably benign
R8736:Pms1	UTSW	1	53,267,894 (GRCm38)	missense	possibly damaging	0.63
R8738:Pms1	UTSW	1	53,282,036 (GRCm38)	missense	possibly damaging	0.67
R8751:Pms1	UTSW	1	53,192,110 (GRCm38)	missense	probably benign	0.01
R9102:Pms1	UTSW	1	53,267,862 (GRCm38)	missense	probably benign	0.11
R9648:Pms1	UTSW	1	53,275,125 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACAGAAGTATCTTGTTATTGCCAG -3'
(R):5'- CAGGTGATAAATAAATAACTCCTGGAC -3'

Sequencing Primer
(F):5'- CTTGGTACAGACATTCTTGCAGGAC -3'
(R):5'- TTTCTGTGGGGTAAATCAGGAAAG -3'

Posted On

2022-03-25