Mutagenetix > Incidental Mutation

Incidental Mutation 'R8354:Msh5'

660634

Institutional Source

Beutler Lab

Gene Symbol

Msh5

Ensembl Gene

ENSMUSG00000007035

Gene Name

mutS homolog 5

Synonyms

G7, Mut5

MMRRC Submission

067806-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8354 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35247581-35265721 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35250742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 469 (F469L)

Ref Sequence

ENSEMBL: ENSMUSP00000134426 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007250
AA Change: F469L

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000007250
Gene: ENSMUSG00000007035
AA Change: F469L

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

possibly damaging
Transcript: ENSMUST00000097338
AA Change: F469L

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000094951
Gene: ENSMUSG00000007035
AA Change: F469L

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

possibly damaging
Transcript: ENSMUST00000172536
AA Change: F469L

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134426
Gene: ENSMUSG00000007035
AA Change: F469L

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: ENSMUST00000174026

SMART Domains

Protein: ENSMUSP00000134295
Gene: ENSMUSG00000007035

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (70/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	A	T	2: 150,676,297 (GRCm39)	S353R	probably damaging	Het
Ap1ar	T	C	3: 127,606,428 (GRCm39)		probably null	Het
Asxl1	C	A	2: 153,235,345 (GRCm39)	N213K	probably benign	Het
Cacna1e	A	G	1: 154,274,314 (GRCm39)	V2197A	probably damaging	Het
Cacna2d2	G	A	9: 107,401,334 (GRCm39)	E706K	possibly damaging	Het
Cfap46	C	T	7: 139,233,414 (GRCm39)	V296I	probably benign	Het
Cldn5	A	G	16: 18,596,043 (GRCm39)	T100A	probably benign	Het
Ctnna1	C	A	18: 35,385,776 (GRCm39)	N802K	possibly damaging	Het
Dennd2b	G	A	7: 109,124,755 (GRCm39)	R675*	probably null	Het
Dip2c	A	G	13: 9,671,918 (GRCm39)	T968A	probably benign	Het
Dnaaf5	ACCCAGCACCTGGAGATCGTCC	ACC	5: 139,147,614 (GRCm39)		probably null	Het
Dnah8	A	T	17: 30,862,234 (GRCm39)	D203V	probably benign	Het
Dnajc13	A	G	9: 104,094,927 (GRCm39)	M585T	probably damaging	Het
Donson	G	T	16: 91,480,685 (GRCm39)	T262K	possibly damaging	Het
E2f3	T	A	13: 30,169,787 (GRCm39)		probably benign	Het
Fam110c	A	G	12: 31,125,178 (GRCm39)	E380G	possibly damaging	Het
Gbp9	T	G	5: 105,242,027 (GRCm39)	T177P	probably damaging	Het
Gins3	C	T	8: 96,364,646 (GRCm39)	A132V	probably benign	Het
Glra3	T	A	8: 56,578,345 (GRCm39)	Y467*	probably null	Het
Gm7138	A	G	10: 77,612,444 (GRCm39)		probably benign	Het
Golim4	T	C	3: 75,802,308 (GRCm39)	E328G	probably damaging	Het
Habp2	T	A	19: 56,301,388 (GRCm39)	C270*	probably null	Het
Hecw2	A	G	1: 53,964,467 (GRCm39)		probably null	Het
Hmcn1	A	T	1: 150,634,142 (GRCm39)	Y815N	possibly damaging	Het
Igfn1	A	T	1: 135,887,619 (GRCm39)	C2482S	possibly damaging	Het
Igkv4-71	A	G	6: 69,220,260 (GRCm39)	V57A	probably damaging	Het
Itpkb	G	A	1: 180,160,908 (GRCm39)	E345K	possibly damaging	Het
Itpr3	G	A	17: 27,334,893 (GRCm39)	V2136M	possibly damaging	Het
Kcnh3	A	G	15: 99,127,211 (GRCm39)	T336A	probably damaging	Het
Kdm4d	T	C	9: 14,375,235 (GRCm39)	T208A	possibly damaging	Het
Kntc1	T	C	5: 123,916,330 (GRCm39)	F721S	probably damaging	Het
Krt10	A	G	11: 99,280,086 (GRCm39)		probably benign	Het
Lgals3bp	T	A	11: 118,289,367 (GRCm39)	N28I	probably damaging	Het
Matn2	T	C	15: 34,378,843 (GRCm39)	L293P	probably damaging	Het
Mical3	T	C	6: 120,950,381 (GRCm39)	E1010G	probably damaging	Het
Mpp4	C	A	1: 59,169,224 (GRCm39)	R380L	probably damaging	Het
Ncam2	A	G	16: 81,309,847 (GRCm39)	T446A	probably benign	Het
Neurl4	A	G	11: 69,800,062 (GRCm39)	D1050G	probably damaging	Het
Olfml2b	T	C	1: 170,509,793 (GRCm39)	Y714H	possibly damaging	Het
Or5d43	T	C	2: 88,105,036 (GRCm39)	D119G	probably damaging	Het
Or8c17	T	C	9: 38,180,513 (GRCm39)	S235P	probably benign	Het
Pcnx2	T	C	8: 126,488,357 (GRCm39)	E1729G	probably damaging	Het
Peg10	GCACATCAGGATCC	GCACATCAGGATCCCCATCAGGATCCTCCACATCAGGATCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pex1	T	A	5: 3,681,707 (GRCm39)	L1051Q	probably damaging	Het
Prkag2	T	A	5: 25,074,137 (GRCm39)	R283*	probably null	Het
Prrc1	T	A	18: 57,504,503 (GRCm39)	M238K	probably damaging	Het
Ptprj	T	C	2: 90,300,061 (GRCm39)	T247A	probably benign	Het
Ptprz1	A	G	6: 22,999,614 (GRCm39)	Y568C	probably damaging	Het
Rab36	G	A	10: 74,884,291 (GRCm39)	A114T	probably damaging	Het
Rfx7	T	C	9: 72,526,731 (GRCm39)	V1307A	probably benign	Het
Scaf1	A	C	7: 44,657,251 (GRCm39)		probably benign	Het
Sema4g	A	T	19: 44,986,866 (GRCm39)	T440S	probably benign	Het
Setbp1	A	T	18: 78,900,598 (GRCm39)	V1023E	probably damaging	Het
Slc46a2	T	C	4: 59,913,931 (GRCm39)	I331V	possibly damaging	Het
Slc4a7	C	T	14: 14,786,313 (GRCm38)	R1000C	probably damaging	Het
Sorcs2	T	C	5: 36,222,753 (GRCm39)	H162R	probably benign	Het
Spata31f1e	T	A	4: 42,793,223 (GRCm39)	H303L	probably benign	Het
Strip2	G	A	6: 29,920,531 (GRCm39)		probably null	Het
Stx2	T	A	5: 129,071,932 (GRCm39)	I42L	probably benign	Het
Tas2r124	A	T	6: 132,732,410 (GRCm39)	T240S	probably benign	Het
Tgfbrap1	A	T	1: 43,115,070 (GRCm39)	V10D	probably damaging	Het
Tmem41a	T	A	16: 21,766,181 (GRCm39)	Y19F	probably benign	Het
Tmprss5	A	G	9: 49,018,439 (GRCm39)	T74A	possibly damaging	Het
Trim16	G	T	11: 62,727,587 (GRCm39)	R216L	probably benign	Het
Trmt10c	T	C	16: 55,854,870 (GRCm39)	K255R	probably benign	Het
Trpm2	A	T	10: 77,769,483 (GRCm39)	V747E	probably damaging	Het
Ube2v2	T	C	16: 15,399,005 (GRCm39)	D28G	possibly damaging	Het
Uty	G	A	Y: 1,157,928 (GRCm39)	T705I	possibly damaging	Het
Vmn2r80	A	T	10: 78,984,710 (GRCm39)	I21F	probably benign	Het
Wdr11	T	C	7: 129,204,723 (GRCm39)	L176S	probably damaging	Het
Zfp992	A	G	4: 146,551,319 (GRCm39)	T347A	probably benign	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
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
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'- ATGCAGTGTGACCATGCAGAG -3'
(R):5'- TGAAAAGCCACTGGGTGTG -3'

Sequencing Primer
(F):5'- TGCAGAGGGGCCAGCATG -3'
(R):5'- GAACTCACTCTGTAGACCAGGCTG -3'

Posted On

2021-01-18