Mutagenetix > Incidental Mutation

Incidental Mutation 'R2382:Msh6'

247586

Institutional Source

Beutler Lab

Gene Symbol

Msh6

Ensembl Gene

ENSMUSG00000005370

Gene Name

mutS homolog 6

Synonyms

Gtmbp, GTBP, Msh6

MMRRC Submission

040357-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2382 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88282490-88298320 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88292159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 305 (V305I)

Ref Sequence

ENSEMBL: ENSMUSP00000005503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005503]

AlphaFold

P54276

Predicted Effect

probably benign
Transcript: ENSMUST00000005503
AA Change: V305I

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

SMART Domains

Protein: ENSMUSP00000005503
Gene: ENSMUSG00000005370
AA Change: V305I

Domain	Start	End	E-Value	Type
low complexity region	23	46	N/A	INTRINSIC
low complexity region	76	87	N/A	INTRINSIC
PWWP	90	152	9.01e-30	SMART
low complexity region	198	212	N/A	INTRINSIC
low complexity region	216	230	N/A	INTRINSIC
low complexity region	239	264	N/A	INTRINSIC
low complexity region	273	291	N/A	INTRINSIC
low complexity region	373	389	N/A	INTRINSIC
Pfam:MutS_I	406	525	4.7e-35	PFAM
Pfam:MutS_II	536	700	1.4e-10	PFAM
MUTSd	750	1100	4.56e-86	SMART
MUTSac	1125	1319	1.68e-116	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature death and are predisposed to tumor formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Aarsd1	T	A	11: 101,304,904 (GRCm39)	I64F	probably damaging	Het
Agrn	T	A	4: 156,260,973 (GRCm39)	D574V	probably damaging	Het
Atg4b	T	C	1: 93,712,564 (GRCm39)	C16R	probably damaging	Het
Ccdc141	A	T	2: 76,841,886 (GRCm39)	L1515Q	probably damaging	Het
Ccdc141	A	T	2: 76,905,342 (GRCm39)	V368E	probably benign	Het
Clk1	A	T	1: 58,460,448 (GRCm39)	S61T	probably benign	Het
Dhx38	A	T	8: 110,282,772 (GRCm39)	D631E	probably damaging	Het
Dner	C	G	1: 84,348,544 (GRCm39)	E719Q	probably damaging	Het
E030025P04Rik	G	A	11: 109,034,880 (GRCm39)	Q3*	probably null	Het
Eif4g2	T	A	7: 110,674,253 (GRCm39)	T613S	probably benign	Het
Fn1	C	G	1: 71,687,278 (GRCm39)	G193A	probably damaging	Het
Ftdc1	T	C	16: 58,436,239 (GRCm39)		probably null	Het
Gls2	A	G	10: 128,039,711 (GRCm39)	E286G	probably damaging	Het
Gm21286	A	G	4: 60,794,283 (GRCm39)		noncoding transcript	Het
Hoxa13	A	T	6: 52,236,125 (GRCm39)	V304D	probably damaging	Het
Hpse2	A	T	19: 42,920,061 (GRCm39)	M346K	probably benign	Het
Igkv1-99	A	T	6: 68,519,481 (GRCm39)		probably benign	Het
Kcnq2	A	G	2: 180,753,900 (GRCm39)	Y237H	probably damaging	Het
Kmt2a	T	A	9: 44,732,207 (GRCm39)		probably benign	Het
Kntc1	A	G	5: 123,898,411 (GRCm39)	D180G	probably damaging	Het
Macf1	G	A	4: 123,268,625 (GRCm39)	T4682M	probably damaging	Het
Mfsd6	T	A	1: 52,747,569 (GRCm39)	H432L	probably benign	Het
Mgat5b	T	A	11: 116,810,322 (GRCm39)	D7E	probably damaging	Het
Notch1	A	T	2: 26,363,793 (GRCm39)	H880Q	probably benign	Het
Or2g25	A	C	17: 37,970,822 (GRCm39)	V134G	probably benign	Het
Or7a37	G	A	10: 78,805,990 (GRCm39)	C169Y	probably damaging	Het
Or7a41	A	T	10: 78,870,968 (GRCm39)	I113F	possibly damaging	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Pnliprp2	A	G	19: 58,757,062 (GRCm39)	N308S	probably benign	Het
Ppwd1	T	C	13: 104,343,621 (GRCm39)	T595A	probably damaging	Het
Prdm13	T	C	4: 21,678,277 (GRCm39)	T738A	possibly damaging	Het
Rab11fip3	T	A	17: 26,209,841 (GRCm39)	K1062*	probably null	Het
Reep3	A	T	10: 66,932,569 (GRCm39)	V11E	possibly damaging	Het
Slco1a8	G	A	6: 141,936,206 (GRCm39)	S293F	probably benign	Het
Slco3a1	T	C	7: 73,996,524 (GRCm39)	D294G	probably benign	Het
Sycp2	A	G	2: 178,019,811 (GRCm39)		probably null	Het
Zfp292	A	G	4: 34,806,426 (GRCm39)	V2206A	possibly damaging	Het

Other mutations in Msh6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01691:Msh6	APN	17	88,292,907 (GRCm39)	missense	probably benign
IGL01834:Msh6	APN	17	88,293,140 (GRCm39)	missense	probably damaging	1.00
IGL01904:Msh6	APN	17	88,292,160 (GRCm39)	missense	probably benign
IGL01957:Msh6	APN	17	88,292,519 (GRCm39)	missense	possibly damaging	0.73
IGL02117:Msh6	APN	17	88,298,234 (GRCm39)	unclassified	probably benign
IGL02234:Msh6	APN	17	88,294,229 (GRCm39)	missense	probably damaging	1.00
IGL02512:Msh6	APN	17	88,292,160 (GRCm39)	missense	probably benign
IGL02651:Msh6	APN	17	88,296,943 (GRCm39)	missense	probably damaging	1.00
IGL03381:Msh6	APN	17	88,292,537 (GRCm39)	missense	probably damaging	1.00
medea	UTSW	17	88,287,651 (GRCm39)	nonsense	probably null
medusa	UTSW	17	88,295,891 (GRCm39)	unclassified	probably benign
PIT4449001:Msh6	UTSW	17	88,293,616 (GRCm39)	missense	probably damaging	0.96
R0196:Msh6	UTSW	17	88,287,788 (GRCm39)	missense	possibly damaging	0.95
R0324:Msh6	UTSW	17	88,294,048 (GRCm39)	nonsense	probably null
R0492:Msh6	UTSW	17	88,282,679 (GRCm39)	missense	probably benign
R0711:Msh6	UTSW	17	88,294,112 (GRCm39)	missense	probably damaging	1.00
R1065:Msh6	UTSW	17	88,295,891 (GRCm39)	unclassified	probably benign
R1454:Msh6	UTSW	17	88,292,186 (GRCm39)	missense	probably benign	0.00
R1740:Msh6	UTSW	17	88,293,150 (GRCm39)	missense	possibly damaging	0.72
R1770:Msh6	UTSW	17	88,287,651 (GRCm39)	nonsense	probably null
R1771:Msh6	UTSW	17	88,291,950 (GRCm39)	missense	probably benign	0.17
R1919:Msh6	UTSW	17	88,292,553 (GRCm39)	missense	probably benign	0.01
R1926:Msh6	UTSW	17	88,293,653 (GRCm39)	missense	probably benign
R2026:Msh6	UTSW	17	88,297,771 (GRCm39)	missense	probably damaging	1.00
R2095:Msh6	UTSW	17	88,295,661 (GRCm39)	missense	possibly damaging	0.93
R2097:Msh6	UTSW	17	88,292,844 (GRCm39)	missense	probably benign	0.00
R2149:Msh6	UTSW	17	88,293,516 (GRCm39)	missense	probably damaging	1.00
R2156:Msh6	UTSW	17	88,293,568 (GRCm39)	nonsense	probably null
R2167:Msh6	UTSW	17	88,296,911 (GRCm39)	missense	probably damaging	1.00
R3005:Msh6	UTSW	17	88,295,713 (GRCm39)	missense	probably benign	0.34
R3160:Msh6	UTSW	17	88,292,909 (GRCm39)	missense	probably damaging	1.00
R3162:Msh6	UTSW	17	88,292,909 (GRCm39)	missense	probably damaging	1.00
R3162:Msh6	UTSW	17	88,292,909 (GRCm39)	missense	probably damaging	1.00
R3774:Msh6	UTSW	17	88,293,609 (GRCm39)	missense	probably damaging	1.00
R3775:Msh6	UTSW	17	88,293,609 (GRCm39)	missense	probably damaging	1.00
R4350:Msh6	UTSW	17	88,292,012 (GRCm39)	missense	probably damaging	1.00
R4424:Msh6	UTSW	17	88,298,217 (GRCm39)	nonsense	probably null
R4499:Msh6	UTSW	17	88,287,697 (GRCm39)	missense	probably damaging	1.00
R4667:Msh6	UTSW	17	88,292,234 (GRCm39)	missense	possibly damaging	0.89
R4668:Msh6	UTSW	17	88,292,234 (GRCm39)	missense	possibly damaging	0.89
R4669:Msh6	UTSW	17	88,292,234 (GRCm39)	missense	possibly damaging	0.89
R4849:Msh6	UTSW	17	88,290,947 (GRCm39)	missense	possibly damaging	0.94
R5137:Msh6	UTSW	17	88,287,716 (GRCm39)	missense	possibly damaging	0.83
R5472:Msh6	UTSW	17	88,291,989 (GRCm39)	missense	possibly damaging	0.81
R5594:Msh6	UTSW	17	88,293,497 (GRCm39)	missense	probably benign	0.00
R5607:Msh6	UTSW	17	88,294,329 (GRCm39)	missense	probably damaging	1.00
R5608:Msh6	UTSW	17	88,294,329 (GRCm39)	missense	probably damaging	1.00
R5660:Msh6	UTSW	17	88,292,147 (GRCm39)	missense	possibly damaging	0.94
R6243:Msh6	UTSW	17	88,290,999 (GRCm39)	missense	possibly damaging	0.69
R6279:Msh6	UTSW	17	88,287,677 (GRCm39)	missense	probably damaging	1.00
R6357:Msh6	UTSW	17	88,291,888 (GRCm39)	nonsense	probably null
R6399:Msh6	UTSW	17	88,294,319 (GRCm39)	missense	probably damaging	1.00
R6453:Msh6	UTSW	17	88,293,167 (GRCm39)	missense	probably damaging	1.00
R6646:Msh6	UTSW	17	88,293,870 (GRCm39)	missense	possibly damaging	0.80
R7404:Msh6	UTSW	17	88,282,548 (GRCm39)
R7837:Msh6	UTSW	17	88,292,094 (GRCm39)	missense	probably damaging	1.00
R8004:Msh6	UTSW	17	88,294,215 (GRCm39)	missense	probably damaging	1.00
R8296:Msh6	UTSW	17	88,294,340 (GRCm39)	missense	probably damaging	1.00
R8326:Msh6	UTSW	17	88,294,340 (GRCm39)	missense	probably damaging	1.00
R8377:Msh6	UTSW	17	88,292,598 (GRCm39)	missense	probably damaging	1.00
R8715:Msh6	UTSW	17	88,293,195 (GRCm39)	missense	probably benign
R9752:Msh6	UTSW	17	88,293,963 (GRCm39)	missense	probably damaging	1.00
X0026:Msh6	UTSW	17	88,298,042 (GRCm39)	missense	probably benign	0.00
X0026:Msh6	UTSW	17	88,293,609 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGAAGCACAGCCCAGTGTTC -3'
(R):5'- TGGGTCCACTACTGTCGTTACC -3'

Sequencing Primer
(F):5'- CAGTGTTCAGGGGCCTAGG -3'
(R):5'- GTTACCTCCTCCACTGACGTG -3'

Posted On

2014-11-11