Mutagenetix > Incidental Mutations

Incidental Mutation 'R4878:Msh5'

375090

Institutional Source

Beutler Lab

Gene Symbol

Msh5

Ensembl Gene

ENSMUSG00000007035

Gene Name

mutS homolog 5

Synonyms

Mut5, G7

MMRRC Submission

042487-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35028605-35046745 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35038456 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 321 (R321C)

Ref Sequence

ENSEMBL: ENSMUSP00000134426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007250] [ENSMUST00000097338] [ENSMUST00000172536] [ENSMUST00000174556] [ENSMUST00000174603]

Predicted Effect

probably damaging
Transcript: ENSMUST00000007250
AA Change: R321C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000007250
Gene: ENSMUSG00000007035
AA Change: R321C

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
low complexity region	33	49	N/A	INTRINSIC
MUTSd	248	568	9.72e-72	SMART
MUTSac	584	775	2.2e-61	SMART
Blast:MUTSac	795	833	3e-11	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000097338
AA Change: R321C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000094951
Gene: ENSMUSG00000007035
AA Change: R321C

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
low complexity region	33	49	N/A	INTRINSIC
MUTSd	248	568	9.72e-72	SMART
MUTSac	584	775	2.2e-61	SMART
Blast:MUTSac	795	833	3e-11	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165329

Predicted Effect

probably damaging
Transcript: ENSMUST00000172536
AA Change: R321C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134426
Gene: ENSMUSG00000007035
AA Change: R321C

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
low complexity region	33	49	N/A	INTRINSIC
MUTSd	248	568	9.72e-72	SMART
low complexity region	604	615	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173685

Predicted Effect

probably benign
Transcript: ENSMUST00000174556

SMART Domains

Protein: ENSMUSP00000134061
Gene: ENSMUSG00000007035

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000174603
AA Change: R321C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000134065
Gene: ENSMUSG00000007035
AA Change: R321C

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
low complexity region	33	49	N/A	INTRINSIC
MUTSd	248	493	1.67e-11	SMART

Meta Mutation Damage Score

0.7988

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

96% (70/73)

MGI Phenotype

FUNCTION: This gene encodes a member of the MutS family of proteins that play critical roles in DNA mismatch repair and meiotic homologous recombination processes. Mice lacking the encoded protein are viable but sterile, with severe defects in spermatogenesis in males and complete loss of ovarian structures in females. Mutations in a similar gene in humans have been shown to cause common variable immune deficiency (CVID) and immunoglobulin A deficiency. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit disrupted chromosome pairing in meiosis I resulting in cell death and sterility. In males, testes size is reduced, and in females, there is a total loss of ovarian structure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	C	A	4: 144,613,845	H47N	possibly damaging	Het
Adgrg3	A	T	8: 95,035,086	N159I	possibly damaging	Het
Agrn	A	T	4: 156,170,845	L1449Q	probably damaging	Het
Anks6	C	T	4: 47,030,795	G601S	probably damaging	Het
Atg2a	A	T	19: 6,250,244	E694V	probably damaging	Het
Ccndbp1	T	A	2: 121,014,691	L363*	probably null	Het
Cdh16	A	T	8: 104,618,064	D478E	probably damaging	Het
Cep295	A	T	9: 15,334,956	W735R	probably benign	Het
Cnnm2	C	T	19: 46,859,083	P682S	probably benign	Het
Daam2	C	A	17: 49,460,710	R951L	probably damaging	Het
Dmxl1	T	A	18: 49,851,476	F180I	probably damaging	Het
Dnajc6	T	C	4: 101,599,034		probably benign	Het
Efemp2	A	T	19: 5,480,761		probably benign	Het
Emilin1	A	G	5: 30,917,066	D217G	probably benign	Het
Enpep	A	T	3: 129,276,771	M829K	probably benign	Het
Epb41l4a	A	G	18: 33,798,572	V623A	probably damaging	Het
Erlin2	T	A	8: 27,027,166		probably null	Het
Fbln2	T	C	6: 91,256,995		probably null	Het
Gga3	A	T	11: 115,591,321	I157N	probably damaging	Het
Gm884	A	G	11: 103,617,891		probably benign	Het
Gtpbp6	C	T	5: 110,107,311		probably benign	Het
Hps4	T	C	5: 112,375,368	V584A	probably benign	Het
Ighv1-50	T	C	12: 115,119,947	Y51C	probably benign	Het
Kif13b	T	C	14: 64,806,154	L1801P	probably benign	Het
Kif16b	T	C	2: 142,848,003	I330V	probably damaging	Het
Klb	A	T	5: 65,348,490	R27W	probably damaging	Het
Lrif1	A	T	3: 106,735,640	K169M	probably damaging	Het
Met	A	G	6: 17,549,059	D970G	probably damaging	Het
Mical3	A	T	6: 120,969,387	M1051K	possibly damaging	Het
Mios	A	G	6: 8,215,094	N97D	probably benign	Het
Mybpc1	T	C	10: 88,551,430	Q473R	possibly damaging	Het
Ncoa1	C	T	12: 4,275,004	G970D	probably damaging	Het
Neb	T	C	2: 52,219,394	Y232C	probably damaging	Het
Nefh	A	G	11: 4,941,333	S429P	probably damaging	Het
Notch3	C	T	17: 32,147,085	G1014D	probably damaging	Het
Nup107	A	T	10: 117,751,418	C859S	probably benign	Het
Olfr1033	A	G	2: 86,041,455	I47V	probably benign	Het
Olfr136	T	G	17: 38,335,627	F157V	probably benign	Het
Olfr412	T	C	11: 74,364,848	Y60H	probably damaging	Het
Otud7b	T	A	3: 96,136,510		probably benign	Het
Pde1a	A	T	2: 79,878,139	S312T	probably benign	Het
Piwil1	G	T	5: 128,740,981	R94L	probably damaging	Het
Pnma2	G	A	14: 66,917,054	W309*	probably null	Het
Ppef2	A	C	5: 92,228,740		probably null	Het
Rabac1	T	A	7: 24,969,967	Q212L	possibly damaging	Het
Rad51	T	C	2: 119,120,492		probably benign	Het
Rbm48	A	T	5: 3,591,853		probably benign	Het
Rft1	C	T	14: 30,677,804	S315L	probably benign	Het
Rgs13	C	T	1: 144,171,479	M1I	probably null	Het
Rhbg	A	C	3: 88,247,453	S215A	probably benign	Het
Rufy2	A	T	10: 63,002,211	N379I	probably damaging	Het
Slc17a1	T	C	13: 23,880,654	L367P	probably damaging	Het
Slc25a39	G	A	11: 102,403,675	R308C	probably benign	Het
Smo	A	G	6: 29,753,571	T149A	probably benign	Het
Sqle	A	G	15: 59,316,085	K81E	probably benign	Het
Tfpi	A	G	2: 84,452,555		probably null	Het
Tnk2	A	G	16: 32,679,630	D572G	probably damaging	Het
Ubr5	A	T	15: 38,006,564	M1149K	probably benign	Het
Utrn	T	A	10: 12,727,758	Q626L	probably damaging	Het
Virma	T	A	4: 11,544,971	H1643Q	probably damaging	Het
Wnt3	G	T	11: 103,808,205	G46C	possibly damaging	Het
Zkscan7	G	T	9: 122,890,800	G184*	probably null	Het

Other mutations in Msh5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Msh5	APN	17	35029881	nonsense	probably null
IGL00491:Msh5	APN	17	35030730	missense	probably damaging	0.96
IGL01364:Msh5	APN	17	35028769	missense	possibly damaging	0.70
R0189:Msh5	UTSW	17	35029654	missense	probably null	0.97
R0257:Msh5	UTSW	17	35032864	missense	probably damaging	0.99
R0346:Msh5	UTSW	17	35029888	missense	probably benign	0.09
R0449:Msh5	UTSW	17	35041482	missense	probably benign	0.09
R0645:Msh5	UTSW	17	35039223	missense	probably damaging	1.00
R1925:Msh5	UTSW	17	35029952	missense	probably benign	0.00
R1929:Msh5	UTSW	17	35044390	missense	probably benign	0.24
R1970:Msh5	UTSW	17	35033600	missense	probably damaging	0.99
R2025:Msh5	UTSW	17	35032792	missense	possibly damaging	0.90
R2038:Msh5	UTSW	17	35046040	missense	probably benign	0.12
R2058:Msh5	UTSW	17	35029756	missense	probably damaging	0.99
R2271:Msh5	UTSW	17	35044390	missense	probably benign	0.24
R2408:Msh5	UTSW	17	35045119	missense	probably damaging	1.00
R3079:Msh5	UTSW	17	35046232	missense	probably benign	0.41
R4409:Msh5	UTSW	17	35039250	missense	probably damaging	0.98
R4513:Msh5	UTSW	17	35030688	missense	possibly damaging	0.89
R4951:Msh5	UTSW	17	35038420	nonsense	probably null
R5037:Msh5	UTSW	17	35032393	missense	possibly damaging	0.80
R5063:Msh5	UTSW	17	35042188	splice site	probably null
R5064:Msh5	UTSW	17	35043783	intron	probably benign
R5103:Msh5	UTSW	17	35029239	missense	possibly damaging	0.96
R5872:Msh5	UTSW	17	35029652	critical splice donor site	probably null
R6320:Msh5	UTSW	17	35029924	missense	probably damaging	0.97
R6869:Msh5	UTSW	17	35041834	intron	probably null
R6997:Msh5	UTSW	17	35030002	missense	probably damaging	1.00
R7895:Msh5	UTSW	17	35044379	missense	probably benign	0.04
R8030:Msh5	UTSW	17	35029748	missense	possibly damaging	0.95
R8384:Msh5	UTSW	17	35030637	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGGCTTGACTTGAACTTCTG -3'
(R):5'- GGTGACTCTGTGTGGAGAAC -3'

Sequencing Primer
(F):5'- CTTCTGATCTAAAACGGGAAGCCTG -3'
(R):5'- AACACCCATGTGAGTGTGG -3'

Posted On

2016-03-17