Mutagenetix > Incidental Mutation

Incidental Mutation 'R7895:Msh5'

609643

Institutional Source

Beutler Lab

Gene Symbol

Msh5

Ensembl Gene

ENSMUSG00000007035

Gene Name

mutS homolog 5

Synonyms

G7, Mut5

MMRRC Submission

045947-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7895 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35247581-35265721 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35263355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 158 (M158V)

Ref Sequence

ENSEMBL: ENSMUSP00000007250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007250] [ENSMUST00000097338] [ENSMUST00000172491] [ENSMUST00000172536] [ENSMUST00000174556] [ENSMUST00000174603]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000007250
AA Change: M158V

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000007250
Gene: ENSMUSG00000007035
AA Change: M158V

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 benign
Transcript: ENSMUST00000097338
AA Change: M158V

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000094951
Gene: ENSMUSG00000007035
AA Change: M158V

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 benign
Transcript: ENSMUST00000172491

SMART Domains

Protein: ENSMUSP00000133415
Gene: ENSMUSG00000007035

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
low complexity region	39	48	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172536
AA Change: M158V

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000134426
Gene: ENSMUSG00000007035
AA Change: M158V

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

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 benign
Transcript: ENSMUST00000174603
AA Change: M158V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000134065
Gene: ENSMUSG00000007035
AA Change: M158V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (92/93)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,106,295 (GRCm39)	S143T	probably benign	Het
9030624G23Rik	A	T	12: 24,094,724 (GRCm39)	M149K	unknown	Het
Aadacl4fm4	A	T	4: 144,396,913 (GRCm39)	I273K	possibly damaging	Het
Agpat3	T	A	10: 78,119,034 (GRCm39)	I187F	probably benign	Het
Ahcyl1	C	T	3: 107,576,467 (GRCm39)	A332T	probably damaging	Het
Aldh3b3	A	G	19: 4,014,871 (GRCm39)	I123V	possibly damaging	Het
Ap5z1	T	A	5: 142,456,313 (GRCm39)		probably null	Het
Apob	A	T	12: 8,061,933 (GRCm39)	I3472F	probably benign	Het
Arhgef33	C	T	17: 80,680,914 (GRCm39)	P685S	probably benign	Het
Arhgef4	T	C	1: 34,845,478 (GRCm39)	I130T	probably damaging	Het
Arnt2	A	T	7: 83,954,406 (GRCm39)	F263I	probably benign	Het
Bbof1	A	G	12: 84,466,763 (GRCm39)	R177G	probably damaging	Het
Bbs2	C	A	8: 94,807,764 (GRCm39)	G372W	probably damaging	Het
Blmh	T	A	11: 76,836,721 (GRCm39)		probably null	Het
Ccdc30	A	T	4: 119,209,910 (GRCm39)		probably null	Het
Cdca7l	G	T	12: 117,837,467 (GRCm39)	L219F	probably damaging	Het
Cenpu	C	A	8: 47,015,499 (GRCm39)	A138E	probably benign	Het
Cfap65	T	A	1: 74,972,321 (GRCm39)	T13S	probably benign	Het
Clasp2	A	G	9: 113,733,016 (GRCm39)	M951V	probably benign	Het
Clca4a	A	G	3: 144,674,166 (GRCm39)	S190P	probably benign	Het
Clcn4	A	G	7: 7,298,167 (GRCm39)	V74A	probably benign	Het
Cntln	C	T	4: 84,981,561 (GRCm39)	T913M	possibly damaging	Het
Cntnap4	T	A	8: 113,478,829 (GRCm39)	V185E	probably damaging	Het
Col26a1	C	T	5: 136,777,031 (GRCm39)		probably null	Het
Ctcf	A	T	8: 106,390,690 (GRCm39)	Q99L	possibly damaging	Het
Dgke	T	C	11: 88,931,682 (GRCm39)	Q524R	probably damaging	Het
Dhrs7	A	T	12: 72,699,234 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,289,110 (GRCm39)	Y2969H	probably damaging	Het
Dync1h1	T	G	12: 110,582,891 (GRCm39)	I358S	probably damaging	Het
Efcab3	A	C	11: 105,008,150 (GRCm39)	D410A	probably benign	Het
Emilin2	T	C	17: 71,580,908 (GRCm39)	D606G	probably benign	Het
Ermard	C	T	17: 15,283,875 (GRCm39)	T622I	possibly damaging	Het
Exo1	A	G	1: 175,728,562 (GRCm39)	D542G	probably benign	Het
Fgd5	A	T	6: 91,964,262 (GRCm39)	D165V	probably benign	Het
Gdap1	T	C	1: 17,231,368 (GRCm39)	W238R	probably damaging	Het
Gm11096	T	G	17: 81,749,328 (GRCm39)	I7M	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gmppb	A	T	9: 107,927,770 (GRCm39)	M175L	probably benign	Het
Gorasp2	G	A	2: 70,514,442 (GRCm39)	S273N	probably benign	Het
Gtf3c1	T	C	7: 125,271,994 (GRCm39)	M642V	possibly damaging	Het
Hmx2	T	A	7: 131,157,600 (GRCm39)	L238Q	probably damaging	Het
Kif13b	A	G	14: 64,973,598 (GRCm39)	D316G	probably damaging	Het
Kmt2c	A	G	5: 25,578,174 (GRCm39)	S701P	possibly damaging	Het
Lama4	T	A	10: 38,964,325 (GRCm39)	N1332K	probably damaging	Het
Lrp2	T	C	2: 69,288,823 (GRCm39)	D3681G	probably damaging	Het
Maml3	G	T	3: 51,605,143 (GRCm39)	P722Q	probably damaging	Het
Mier2	C	A	10: 79,377,719 (GRCm39)		probably benign	Het
Ms4a15	A	T	19: 10,956,694 (GRCm39)		probably null	Het
Nova2	A	T	7: 18,676,270 (GRCm39)	K136I		Het
Npm1	A	T	11: 33,106,001 (GRCm39)		probably null	Het
Nr4a3	T	A	4: 48,051,390 (GRCm39)	M48K	probably benign	Het
Nrap	T	G	19: 56,342,584 (GRCm39)	T806P	probably benign	Het
Ntf3	G	A	6: 126,079,203 (GRCm39)	T101M	probably benign	Het
Or2aj4	G	A	16: 19,385,472 (GRCm39)	R54*	probably null	Het
Paxbp1	T	A	16: 90,822,166 (GRCm39)	D648V	probably damaging	Het
Pcdhb18	T	A	18: 37,623,520 (GRCm39)	D283E	probably benign	Het
Phrf1	C	A	7: 140,839,288 (GRCm39)	Q828K	unknown	Het
Pigq	A	T	17: 26,156,299 (GRCm39)	I43N	probably benign	Het
Pou6f2	G	T	13: 18,300,033 (GRCm39)	T542K		Het
Ppfibp2	T	A	7: 107,320,524 (GRCm39)		probably null	Het
Rab1b	A	T	19: 5,150,524 (GRCm39)	M163K	probably benign	Het
Ralgapa1	A	G	12: 55,793,934 (GRCm39)	M567T	probably benign	Het
Reck	T	C	4: 43,890,970 (GRCm39)	V36A	probably benign	Het
Resp18	C	T	1: 75,254,846 (GRCm39)	D36N	probably null	Het
Rint1	A	C	5: 24,005,720 (GRCm39)	H134P	probably damaging	Het
Rps19	A	T	7: 24,587,764 (GRCm39)	K77M	possibly damaging	Het
Sec24b	A	T	3: 129,789,598 (GRCm39)	S808T	probably benign	Het
Sema4c	A	C	1: 36,592,199 (GRCm39)	V216G	probably damaging	Het
Septin10	T	A	10: 59,016,871 (GRCm39)	T218S	probably benign	Het
Septin3	A	T	15: 82,170,020 (GRCm39)	H182L	probably benign	Het
Sipa1	A	G	19: 5,702,690 (GRCm39)	S836P	probably benign	Het
Slc9a5	A	G	8: 106,089,998 (GRCm39)	K652R	probably damaging	Het
Slco5a1	T	A	1: 13,059,927 (GRCm39)	I265F	possibly damaging	Het
Snapc5	T	A	9: 64,086,614 (GRCm39)	M1K	probably null	Het
Snx5	T	A	2: 144,095,740 (GRCm39)	D307V	possibly damaging	Het
Srebf2	A	T	15: 82,061,441 (GRCm39)	M381L	probably benign	Het
Ssh2	G	C	11: 77,345,452 (GRCm39)	E1146Q	probably benign	Het
Suco	A	T	1: 161,672,937 (GRCm39)		probably null	Het
Tanc2	T	A	11: 105,812,651 (GRCm39)	L1365Q	probably damaging	Het
Tas1r3	A	G	4: 155,947,005 (GRCm39)	L200P	probably damaging	Het
Thbs2	T	G	17: 14,896,483 (GRCm39)	D802A	probably damaging	Het
Trav3-1	G	A	14: 52,818,550 (GRCm39)	V75M	probably benign	Het
Trim9	G	A	12: 70,301,961 (GRCm39)	P559L	probably benign	Het
Trpc6	G	A	9: 8,655,219 (GRCm39)	G683D	probably damaging	Het
Unc5b	C	A	10: 60,615,509 (GRCm39)	V164L	possibly damaging	Het
Usf3	A	T	16: 44,036,565 (GRCm39)	R348S	possibly damaging	Het
Vmn1r236	T	C	17: 21,507,728 (GRCm39)	V282A	possibly damaging	Het
Vmn2r1	A	G	3: 63,997,130 (GRCm39)	E262G	possibly damaging	Het
Xirp2	A	G	2: 67,339,841 (GRCm39)	E694G	probably damaging	Het
Xpo4	T	A	14: 57,840,048 (GRCm39)	H572L	probably benign	Het
Zfhx4	A	G	3: 5,307,259 (GRCm39)	T162A	probably benign	Het
Zfp110	T	A	7: 12,571,020 (GRCm39)	H59Q	possibly damaging	Het

Other mutations in Msh5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Msh5	APN	17	35,248,857 (GRCm39)	nonsense	probably null
IGL00491:Msh5	APN	17	35,249,706 (GRCm39)	missense	probably damaging	0.96
IGL01364:Msh5	APN	17	35,247,745 (GRCm39)	missense	possibly damaging	0.70
R0189:Msh5	UTSW	17	35,248,630 (GRCm39)	missense	probably null	0.97
R0257:Msh5	UTSW	17	35,251,840 (GRCm39)	missense	probably damaging	0.99
R0346:Msh5	UTSW	17	35,248,864 (GRCm39)	missense	probably benign	0.09
R0449:Msh5	UTSW	17	35,260,458 (GRCm39)	missense	probably benign	0.09
R0645:Msh5	UTSW	17	35,258,199 (GRCm39)	missense	probably damaging	1.00
R1925:Msh5	UTSW	17	35,248,928 (GRCm39)	missense	probably benign	0.00
R1929:Msh5	UTSW	17	35,263,366 (GRCm39)	missense	probably benign	0.24
R1970:Msh5	UTSW	17	35,252,576 (GRCm39)	missense	probably damaging	0.99
R2025:Msh5	UTSW	17	35,251,768 (GRCm39)	missense	possibly damaging	0.90
R2038:Msh5	UTSW	17	35,265,016 (GRCm39)	missense	probably benign	0.12
R2058:Msh5	UTSW	17	35,248,732 (GRCm39)	missense	probably damaging	0.99
R2271:Msh5	UTSW	17	35,263,366 (GRCm39)	missense	probably benign	0.24
R2408:Msh5	UTSW	17	35,264,095 (GRCm39)	missense	probably damaging	1.00
R3079:Msh5	UTSW	17	35,265,208 (GRCm39)	missense	probably benign	0.41
R4409:Msh5	UTSW	17	35,258,226 (GRCm39)	missense	probably damaging	0.98
R4513:Msh5	UTSW	17	35,249,664 (GRCm39)	missense	possibly damaging	0.89
R4878:Msh5	UTSW	17	35,257,432 (GRCm39)	missense	probably damaging	1.00
R4951:Msh5	UTSW	17	35,257,396 (GRCm39)	nonsense	probably null
R5037:Msh5	UTSW	17	35,251,369 (GRCm39)	missense	possibly damaging	0.80
R5063:Msh5	UTSW	17	35,261,164 (GRCm39)	splice site	probably null
R5064:Msh5	UTSW	17	35,262,759 (GRCm39)	intron	probably benign
R5103:Msh5	UTSW	17	35,248,215 (GRCm39)	missense	possibly damaging	0.96
R5872:Msh5	UTSW	17	35,248,628 (GRCm39)	critical splice donor site	probably null
R6320:Msh5	UTSW	17	35,248,900 (GRCm39)	missense	probably damaging	0.97
R6869:Msh5	UTSW	17	35,260,810 (GRCm39)	splice site	probably null
R6997:Msh5	UTSW	17	35,248,978 (GRCm39)	missense	probably damaging	1.00
R8030:Msh5	UTSW	17	35,248,724 (GRCm39)	missense	possibly damaging	0.95
R8354:Msh5	UTSW	17	35,250,742 (GRCm39)	missense	possibly damaging	0.95
R8384:Msh5	UTSW	17	35,249,613 (GRCm39)	missense	probably damaging	1.00
R8671:Msh5	UTSW	17	35,264,909 (GRCm39)	nonsense	probably null
R8804:Msh5	UTSW	17	35,251,830 (GRCm39)	missense	probably benign	0.00
R9572:Msh5	UTSW	17	35,250,369 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACTTGAGCAGTCCTCCAAGTG -3'
(R):5'- AACCACCTCTATGGCCTTGG -3'

Sequencing Primer
(F):5'- CCTAGTGTTCCAGAAGCTAGACG -3'
(R):5'- ACCTCTATGGCCTTGGACAAG -3'

Posted On

2019-12-20