Mutagenetix > Incidental Mutation

Incidental Mutation 'R2058:Msh5'

228421

Institutional Source

Beutler Lab

Gene Symbol

Msh5

Ensembl Gene

ENSMUSG00000007035

Gene Name

mutS homolog 5

Synonyms

G7, Mut5

MMRRC Submission

040063-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2058 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35247581-35265721 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 35248732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 738 (V738G)

Ref Sequence

ENSEMBL: ENSMUSP00000094951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007245] [ENSMUST00000007250] [ENSMUST00000040151] [ENSMUST00000097338] [ENSMUST00000172499] [ENSMUST00000172536] [ENSMUST00000174603] [ENSMUST00000174037] [ENSMUST00000174117]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000007245

SMART Domains

Protein: ENSMUSP00000007245
Gene: ENSMUSG00000007030

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
VWA	314	499	2.59e0	SMART
low complexity region	683	701	N/A	INTRINSIC
low complexity region	840	861	N/A	INTRINSIC
low complexity region	864	877	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000007250
AA Change: V738G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000007250
Gene: ENSMUSG00000007035
AA Change: V738G

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: ENSMUST00000040151

SMART Domains

Protein: ENSMUSP00000047448
Gene: ENSMUSG00000036185

Domain	Start	End	E-Value	Type
Pfam:Suppressor_APC	35	114	2.1e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000097338
AA Change: V738G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000094951
Gene: ENSMUSG00000007035
AA Change: V738G

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: ENSMUST00000172499

SMART Domains

Protein: ENSMUSP00000133418
Gene: ENSMUSG00000007030

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
VWA	314	478	7.28e0	SMART
low complexity region	662	680	N/A	INTRINSIC
low complexity region	819	840	N/A	INTRINSIC
low complexity region	843	856	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172536

SMART Domains

Protein: ENSMUSP00000134426
Gene: ENSMUSG00000007035

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: ENSMUST00000173124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173211

Predicted Effect

probably benign
Transcript: ENSMUST00000174026

SMART Domains

Protein: ENSMUSP00000134295
Gene: ENSMUSG00000007035

Domain	Start	End	E-Value	Type
MUTSac	1	166	4e-36	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174603

SMART Domains

Protein: ENSMUSP00000134065
Gene: ENSMUSG00000007035

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174037

SMART Domains

Protein: ENSMUSP00000133881
Gene: ENSMUSG00000036185

Domain	Start	End	E-Value	Type
low complexity region	55	65	N/A	INTRINSIC
low complexity region	70	84	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174117

SMART Domains

Protein: ENSMUSP00000134423
Gene: ENSMUSG00000036185

Domain	Start	End	E-Value	Type
low complexity region	55	65	N/A	INTRINSIC
low complexity region	70	84	N/A	INTRINSIC

Meta Mutation Damage Score

0.7637

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

99% (94/95)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	T	8: 25,162,082 (GRCm39)		probably benign	Het
Adgrf5	A	G	17: 43,739,477 (GRCm39)	Y72C	possibly damaging	Het
Alas1	T	C	9: 106,118,489 (GRCm39)	E211G	probably damaging	Het
Alkbh1	C	T	12: 87,490,520 (GRCm39)		probably benign	Het
Ano1	A	G	7: 144,201,789 (GRCm39)	V334A	probably damaging	Het
Arhgap18	C	T	10: 26,730,904 (GRCm39)	T122I	probably benign	Het
Arhgef4	A	G	1: 34,761,458 (GRCm39)	K238R	unknown	Het
Atf6b	A	T	17: 34,867,549 (GRCm39)		probably null	Het
Atp2a1	G	A	7: 126,046,844 (GRCm39)	A847V	possibly damaging	Het
Baz1b	T	A	5: 135,246,079 (GRCm39)	N509K	probably benign	Het
BC051076	A	T	5: 88,111,844 (GRCm39)		noncoding transcript	Het
Cage1	A	G	13: 38,207,356 (GRCm39)	V163A	probably benign	Het
Canx	T	C	11: 50,195,252 (GRCm39)	N272S	probably damaging	Het
Cd302	T	A	2: 60,082,767 (GRCm39)	I186F	possibly damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cep112	T	A	11: 108,410,087 (GRCm39)		probably null	Het
Cmtm4	A	C	8: 105,081,920 (GRCm39)	F156V	probably damaging	Het
Col4a1	T	A	8: 11,260,792 (GRCm39)	D1330V	probably damaging	Het
Ctsa	T	G	2: 164,676,822 (GRCm39)	M136R	probably null	Het
Cyp2d10	T	A	15: 82,288,015 (GRCm39)	I363F	probably damaging	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Dmwd	T	A	7: 18,814,652 (GRCm39)	L434Q	probably damaging	Het
Fat4	T	A	3: 38,945,319 (GRCm39)	M1404K	possibly damaging	Het
Gcc2	T	A	10: 58,121,779 (GRCm39)	S1102T	probably benign	Het
Gcm2	T	C	13: 41,263,430 (GRCm39)	M1V	probably null	Het
Gna14	G	C	19: 16,585,505 (GRCm39)		probably benign	Het
Gsk3b	T	A	16: 38,008,271 (GRCm39)	D192E	probably benign	Het
Gulo	A	G	14: 66,228,608 (GRCm39)	V270A	possibly damaging	Het
Hps5	T	A	7: 46,417,475 (GRCm39)	D904V	probably damaging	Het
Il7	A	T	3: 7,638,975 (GRCm39)	N130K	probably damaging	Het
Jak3	A	T	8: 72,138,027 (GRCm39)		probably null	Het
Klhl6	T	G	16: 19,801,681 (GRCm39)	T25P	probably benign	Het
Kremen2	T	C	17: 23,961,691 (GRCm39)	E272G	possibly damaging	Het
Map3k21	A	G	8: 126,665,461 (GRCm39)	K550R	probably benign	Het
Mphosph10	T	A	7: 64,026,499 (GRCm39)	L650F	probably damaging	Het
Mrpl48	T	C	7: 100,198,540 (GRCm39)	E204G	probably damaging	Het
Mybph	G	A	1: 134,127,857 (GRCm39)	C473Y	probably damaging	Het
Nid1	A	C	13: 13,675,058 (GRCm39)	H926P	probably benign	Het
Nlrp9a	T	A	7: 26,256,787 (GRCm39)	I46K	possibly damaging	Het
Notch3	T	C	17: 32,362,618 (GRCm39)	T1336A	probably benign	Het
Nsun4	T	C	4: 115,910,877 (GRCm39)		probably null	Het
Or1e30	A	G	11: 73,678,100 (GRCm39)	N112S	probably benign	Het
Or5m10	A	T	2: 85,717,296 (GRCm39)	T51S	possibly damaging	Het
Osgin1	A	G	8: 120,172,412 (GRCm39)	D402G	possibly damaging	Het
Patl1	A	G	19: 11,909,511 (GRCm39)	E479G	possibly damaging	Het
Pbsn	T	C	X: 76,891,582 (GRCm39)	K72E	probably damaging	Het
Pcdhb13	A	G	18: 37,577,620 (GRCm39)	Q666R	possibly damaging	Het
Pi4k2b	G	A	5: 52,908,022 (GRCm39)	V131I	probably benign	Het
Pkn2	G	A	3: 142,559,232 (GRCm39)	H98Y	possibly damaging	Het
Pms1	A	G	1: 53,314,327 (GRCm39)	Y73H	probably benign	Het
Ppt2	A	T	17: 34,841,818 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,545,469 (GRCm39)	T1862A	probably benign	Het
Prl6a1	T	C	13: 27,503,081 (GRCm39)	Y231H	probably benign	Het
Ranbp3l	T	A	15: 9,029,641 (GRCm39)	V41D	probably damaging	Het
Rhobtb2	T	C	14: 70,031,488 (GRCm39)	T546A	possibly damaging	Het
Ripk4	A	T	16: 97,545,342 (GRCm39)	L372*	probably null	Het
Rnf126	A	G	10: 79,594,971 (GRCm39)		probably benign	Het
S100pbp	A	G	4: 129,075,893 (GRCm39)	V144A	probably benign	Het
Saal1	T	C	7: 46,348,880 (GRCm39)	Q317R	probably damaging	Het
Sap25	G	A	5: 137,641,034 (GRCm39)	G277R	probably damaging	Het
Senp2	C	T	16: 21,832,949 (GRCm39)	T79I	probably damaging	Het
Serpinb9c	A	T	13: 33,340,854 (GRCm39)	C81*	probably null	Het
Set	A	G	2: 29,959,048 (GRCm39)	K70E	possibly damaging	Het
Setd3	A	G	12: 108,073,600 (GRCm39)	I559T	probably benign	Het
Sik1	A	G	17: 32,067,771 (GRCm39)	S435P	probably benign	Het
Skint3	A	T	4: 112,112,980 (GRCm39)	K197*	probably null	Het
Skint5	T	A	4: 113,727,897 (GRCm39)	I402F	possibly damaging	Het
Slc18a1	G	A	8: 69,496,613 (GRCm39)	T350M	probably damaging	Het
Slc19a3	A	T	1: 82,992,512 (GRCm39)	I403K	probably damaging	Het
Slc1a7	C	T	4: 107,861,636 (GRCm39)	T225I	probably benign	Het
Slc38a4	T	C	15: 96,906,606 (GRCm39)	I336V	probably benign	Het
Smarcc1	A	G	9: 109,947,411 (GRCm39)		probably benign	Het
St8sia5	A	T	18: 77,342,459 (GRCm39)	I390F	probably damaging	Het
Strc	A	T	2: 121,209,368 (GRCm39)	W290R	probably damaging	Het
Svep1	T	C	4: 58,084,554 (GRCm39)	D1858G	possibly damaging	Het
Sympk	G	A	7: 18,777,454 (GRCm39)	R568Q	probably damaging	Het
Tex44	A	C	1: 86,354,728 (GRCm39)	K212N	probably damaging	Het
Tgm4	T	C	9: 122,890,835 (GRCm39)	I54T	probably damaging	Het
Thrap3	C	T	4: 126,073,967 (GRCm39)	V260I	probably damaging	Het
Thsd7a	A	T	6: 12,318,105 (GRCm39)		probably benign	Het
Trim12c	A	G	7: 103,997,398 (GRCm39)	F53L	possibly damaging	Het
Ttc6	T	A	12: 57,784,479 (GRCm39)	D1849E	probably benign	Het
Ubap2l	A	T	3: 89,938,683 (GRCm39)		probably benign	Het
Umodl1	G	A	17: 31,227,740 (GRCm39)		probably null	Het
Usp17la	A	C	7: 104,510,378 (GRCm39)	T328P	probably damaging	Het
Vmn2r113	T	A	17: 23,177,223 (GRCm39)	L669*	probably null	Het
Vps13b	T	A	15: 35,841,593 (GRCm39)	V2541E	probably damaging	Het
Wnt3	T	C	11: 103,703,111 (GRCm39)	I198T	probably damaging	Het
Zfp316	T	C	5: 143,249,161 (GRCm39)	E158G	unknown	Het
Zfp362	T	G	4: 128,680,780 (GRCm39)	I182L	possibly damaging	Het
Zfp804a	A	G	2: 82,087,710 (GRCm39)	D513G	probably benign	Het
Zfp879	C	T	11: 50,723,428 (GRCm39)	E543K	probably benign	Het
Zfp97	T	A	17: 17,365,018 (GRCm39)	N172K	possibly damaging	Het
Zmym6	A	T	4: 126,982,208 (GRCm39)	K82*	probably null	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
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
R7895:Msh5	UTSW	17	35,263,355 (GRCm39)	missense	probably benign	0.04
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'- ACAAGTCCAGAGTTTCAAGAGGAAC -3'
(R):5'- TCCTGAGCCTTGTTCAGCTG -3'

Sequencing Primer
(F):5'- AACTCCAGTGTCCTGAGATTG -3'
(R):5'- AAGTCACTCTGCCCATG -3'

Posted On

2014-09-17