Mutagenetix > Incidental Mutation

Incidental Mutation 'R1929:Msh5'

215224

Institutional Source

Beutler Lab

Gene Symbol

Msh5

Ensembl Gene

ENSMUSG00000007035

Gene Name

mutS homolog 5

Synonyms

G7, Mut5

MMRRC Submission

039947-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1929 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35247581-35265721 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35263366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 154 (I154T)

Ref Sequence

ENSEMBL: ENSMUSP00000134065 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000007250
AA Change: I154T

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000007250
Gene: ENSMUSG00000007035
AA Change: I154T

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: I154T

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000094951
Gene: ENSMUSG00000007035
AA Change: I154T

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: ENSMUST00000158934

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165329

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: I154T

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000134426
Gene: ENSMUSG00000007035
AA Change: I154T

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

noncoding transcript
Transcript: ENSMUST00000173928

Predicted Effect

probably benign
Transcript: ENSMUST00000174603
AA Change: I154T

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134065
Gene: ENSMUSG00000007035
AA Change: I154T

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

noncoding transcript
Transcript: ENSMUST00000174741

SMART Domains

Protein: ENSMUSP00000133997
Gene: ENSMUSG00000007035

Domain	Start	End	E-Value	Type
Blast:MUTSd	106	140	1e-8	BLAST

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

Meta Mutation Damage Score

0.1089

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

98% (107/109)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	A	T	1: 165,337,866 (GRCm39)	E160V	probably damaging	Het
Amdhd2	T	C	17: 24,376,860 (GRCm39)		probably null	Het
Angel1	A	C	12: 86,749,093 (GRCm39)	L656V	probably damaging	Het
Ankrd12	G	A	17: 66,293,681 (GRCm39)	S584L	possibly damaging	Het
Apbb2	T	A	5: 66,464,958 (GRCm39)	N679Y	probably benign	Het
Arid3c	T	A	4: 41,724,744 (GRCm39)	I364F	probably damaging	Het
Bcan	T	A	3: 87,900,401 (GRCm39)	S611C	probably damaging	Het
Bnip3	T	G	7: 138,496,359 (GRCm39)		silent	Het
Btc	T	C	5: 91,510,260 (GRCm39)	Y111C	probably damaging	Het
Carnmt1	T	C	19: 18,680,734 (GRCm39)	L336P	probably damaging	Het
Ccdc83	C	T	7: 89,873,285 (GRCm39)	V357I	probably damaging	Het
Cd2bp2	T	C	7: 126,793,050 (GRCm39)	D324G	probably benign	Het
Cdc20b	A	G	13: 113,208,451 (GRCm39)	T216A	probably benign	Het
Cdk17	T	C	10: 93,064,540 (GRCm39)	Y270H	probably damaging	Het
Cenpv	T	C	11: 62,416,059 (GRCm39)	E230G	probably benign	Het
Chst11	T	C	10: 83,027,004 (GRCm39)	Y144H	probably damaging	Het
Cracr2a	T	A	6: 127,584,261 (GRCm39)	F107I	probably damaging	Het
Cyfip1	G	T	7: 55,549,705 (GRCm39)	R624L	probably null	Het
Cyp27b1	T	A	10: 126,884,181 (GRCm39)	V11D	probably damaging	Het
Ddc	T	C	11: 11,785,764 (GRCm39)	N308D	probably damaging	Het
Des	T	G	1: 75,340,137 (GRCm39)	M348R	probably damaging	Het
Dis3l	T	A	9: 64,238,165 (GRCm39)	D109V	probably damaging	Het
Dnah3	T	A	7: 119,574,352 (GRCm39)	I2136F	probably benign	Het
Dnah9	T	C	11: 65,867,224 (GRCm39)	S2785G	probably benign	Het
Dop1a	T	G	9: 86,376,471 (GRCm39)	V235G	probably damaging	Het
Dtx3l	A	T	16: 35,754,059 (GRCm39)	D182E	possibly damaging	Het
Efcab6	A	G	15: 83,777,163 (GRCm39)		probably benign	Het
Elac2	T	A	11: 64,870,015 (GRCm39)	S27T	probably benign	Het
Emsy	T	G	7: 98,275,830 (GRCm39)	K352N	probably damaging	Het
Erbb4	T	C	1: 68,238,047 (GRCm39)	N814S	probably damaging	Het
Fgd6	T	C	10: 93,880,868 (GRCm39)	V574A	probably benign	Het
Filip1	T	C	9: 79,727,212 (GRCm39)	E469G	probably damaging	Het
Fmo1	A	T	1: 162,661,424 (GRCm39)	D286E	probably damaging	Het
Fmo4	A	T	1: 162,626,616 (GRCm39)	I310N	possibly damaging	Het
Focad	A	G	4: 88,260,449 (GRCm39)	N902D	unknown	Het
Focad	A	G	4: 88,315,416 (GRCm39)	S1525G	probably benign	Het
Fras1	T	C	5: 96,815,296 (GRCm39)	W1338R	probably benign	Het
Fry	A	G	5: 150,324,389 (GRCm39)	I1151V	probably null	Het
Garin5b	T	A	7: 4,761,186 (GRCm39)	T509S	probably benign	Het
Gm10076	T	G	14: 105,919,304 (GRCm39)		noncoding transcript	Het
Gm5698	T	G	1: 31,017,042 (GRCm39)	D3A	probably damaging	Het
Gngt2	C	T	11: 95,735,972 (GRCm39)		probably benign	Het
Gsdma	T	C	11: 98,562,193 (GRCm39)		probably null	Het
Gtf2h3	A	T	5: 124,740,262 (GRCm39)		probably benign	Het
Hkdc1	T	C	10: 62,253,677 (GRCm39)	T35A	probably benign	Het
Irs1	T	C	1: 82,266,180 (GRCm39)	S679G	probably benign	Het
Itpr1	T	A	6: 108,470,716 (GRCm39)	C2214S	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kcnk16	A	G	14: 20,315,347 (GRCm39)	V72A	probably damaging	Het
Lipa	T	A	19: 34,488,290 (GRCm39)	R119*	probably null	Het
Matr3	T	A	18: 35,721,378 (GRCm39)		probably benign	Het
Med13l	T	G	5: 118,866,898 (GRCm39)	F651V	probably benign	Het
Mfsd11	T	C	11: 116,764,740 (GRCm39)	V388A	probably benign	Het
Mki67	C	T	7: 135,299,794 (GRCm39)	V1747I	possibly damaging	Het
Mms22l	T	C	4: 24,535,936 (GRCm39)		probably benign	Het
Myo5b	G	T	18: 74,866,996 (GRCm39)	L1382F	probably damaging	Het
Ncbp2	T	C	16: 31,775,769 (GRCm39)	Y138H	probably damaging	Het
Ndufv1	C	A	19: 4,058,347 (GRCm39)	R359L	probably benign	Het
Ntrk3	A	C	7: 78,166,471 (GRCm39)		probably null	Het
Or1e1c	T	A	11: 73,266,427 (GRCm39)	V287E	probably damaging	Het
Or4a15	A	G	2: 89,193,353 (GRCm39)	V140A	probably benign	Het
Or8b12i	T	A	9: 20,082,705 (GRCm39)	H54L	possibly damaging	Het
P4ha1	A	G	10: 59,206,859 (GRCm39)	E523G	probably damaging	Het
Per3	T	A	4: 151,103,342 (GRCm39)	Y530F	probably damaging	Het
Pes1	C	A	11: 3,919,524 (GRCm39)	L66I	probably damaging	Het
Pigr	G	A	1: 130,774,399 (GRCm39)		probably benign	Het
Pkd1l1	A	T	11: 8,786,197 (GRCm39)		probably benign	Het
Plch1	T	A	3: 63,651,956 (GRCm39)	K378N	probably damaging	Het
Plxnb1	T	C	9: 108,931,776 (GRCm39)		probably null	Het
Pramel22	G	A	4: 143,380,712 (GRCm39)	T437I	probably damaging	Het
Prkdc	A	G	16: 15,472,681 (GRCm39)		probably null	Het
Prrc1	G	T	18: 57,514,718 (GRCm39)	D312Y	probably damaging	Het
Psma5-ps	A	G	10: 85,149,595 (GRCm39)		noncoding transcript	Het
Rab3gap2	T	A	1: 185,015,739 (GRCm39)		probably null	Het
Rgs3	A	G	4: 62,620,384 (GRCm39)	I537V	probably damaging	Het
Rhobtb2	T	G	14: 70,033,893 (GRCm39)	D444A	probably damaging	Het
Rnf40	T	C	7: 127,190,956 (GRCm39)	S314P	probably damaging	Het
Rngtt	T	A	4: 33,500,302 (GRCm39)	C565*	probably null	Het
Samd3	A	G	10: 26,139,884 (GRCm39)		probably benign	Het
Sec61a2	A	G	2: 5,878,547 (GRCm39)		probably benign	Het
Serpina3m	G	A	12: 104,355,581 (GRCm39)	A83T	probably damaging	Het
Serpinb13	A	T	1: 106,926,756 (GRCm39)	I251L	possibly damaging	Het
Sez6	C	T	11: 77,863,758 (GRCm39)	T439I	probably damaging	Het
Shc1	G	A	3: 89,330,849 (GRCm39)	G91S	probably damaging	Het
Slc26a2	A	G	18: 61,331,650 (GRCm39)	C594R	possibly damaging	Het
Specc1l	C	T	10: 75,081,438 (GRCm39)	S278F	probably damaging	Het
Spg11	C	T	2: 121,890,688 (GRCm39)	V2044M	probably damaging	Het
Stx18	T	A	5: 38,285,383 (GRCm39)		probably null	Het
Suclg2	T	C	6: 95,566,075 (GRCm39)		probably benign	Het
Tlr4	A	T	4: 66,757,681 (GRCm39)	H158L	probably damaging	Het
Tmem131	A	G	1: 36,851,352 (GRCm39)	V966A	possibly damaging	Het
Tram1l1	T	A	3: 124,115,635 (GRCm39)	I265N	probably damaging	Het
Trim58	T	A	11: 58,531,493 (GRCm39)	F67Y	possibly damaging	Het
Ttc19	A	G	11: 62,172,650 (GRCm39)	Q74R	probably benign	Het
Usp7	T	C	16: 8,516,333 (GRCm39)	S649G	probably benign	Het
Vmn2r16	A	G	5: 109,487,124 (GRCm39)	Y115C	possibly damaging	Het
Zfp444	T	C	7: 6,192,554 (GRCm39)	C191R	probably damaging	Het
Zfp451	A	G	1: 33,821,274 (GRCm39)	F151L	probably damaging	Het
Zfp451	G	A	1: 33,822,937 (GRCm39)	P99S	probably benign	Het
Zfp729b	A	T	13: 67,740,352 (GRCm39)	C648S	probably damaging	Het
Zfp799	A	G	17: 33,040,777 (GRCm39)	Y58H	probably damaging	Het
Zfp804b	A	G	5: 6,819,748 (GRCm39)	V1069A	probably benign	Het
Zfp938	C	T	10: 82,061,381 (GRCm39)	G413D	probably 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
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
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'- TTTTACAGGGCTGGGCAGTC -3'
(R):5'- GTTGTGCTTATAGCCAGACATC -3'

Sequencing Primer
(F):5'- TGGGCAGTCCAGTCACAATTCTG -3'
(R):5'- GCTTATAGCCAGACATCTACATTAC -3'

Posted On

2014-07-14