Mutagenetix > Incidental Mutation

Incidental Mutation 'R2271:Msh5'

242517

Institutional Source

Beutler Lab

Gene Symbol

Msh5

Ensembl Gene

ENSMUSG00000007035

Gene Name

mutS homolog 5

Synonyms

G7, Mut5

MMRRC Submission

040271-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2271 (G1)

Quality Score

225

Status

Not 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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	A	10: 28,857,575 (GRCm39)	Q194L	probably damaging	Het
Acsf2	T	A	11: 94,449,699 (GRCm39)	K574*	probably null	Het
Adam22	T	C	5: 8,171,108 (GRCm39)	E614G	probably damaging	Het
Ap4e1	T	C	2: 126,889,083 (GRCm39)		probably null	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
Birc6	T	C	17: 74,909,966 (GRCm39)	V1453A	probably benign	Het
Carnmt1	T	C	19: 18,680,734 (GRCm39)	L336P	probably damaging	Het
Ccdc146	C	A	5: 21,604,719 (GRCm39)	D40Y	probably benign	Het
Ccdc83	C	T	7: 89,873,285 (GRCm39)	V357I	probably damaging	Het
Cdh22	A	T	2: 164,985,767 (GRCm39)		probably null	Het
Cdk5rap2	A	C	4: 70,184,915 (GRCm39)	S1178R	probably benign	Het
Cdkl3	T	C	11: 51,923,322 (GRCm39)	V45A	probably benign	Het
Chd7	A	G	4: 8,785,532 (GRCm39)	D612G	probably damaging	Het
Chst11	T	C	10: 83,027,004 (GRCm39)	Y144H	probably damaging	Het
Cops6	A	T	5: 138,159,403 (GRCm39)	N10I	probably benign	Het
Cyfip1	G	T	7: 55,549,705 (GRCm39)	R624L	probably null	Het
Cyp27a1	A	G	1: 74,775,846 (GRCm39)	N344D	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
Disp3	C	T	4: 148,356,059 (GRCm39)	R267Q	possibly damaging	Het
Dnah3	T	A	7: 119,574,352 (GRCm39)	I2136F	probably benign	Het
Dnah9	T	C	11: 66,003,188 (GRCm39)	D872G	probably benign	Het
Dnajb14	G	A	3: 137,591,141 (GRCm39)	G31S	probably benign	Het
Dop1a	T	G	9: 86,376,471 (GRCm39)	V235G	probably damaging	Het
Efcab6	T	A	15: 83,831,200 (GRCm39)	R571S	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
Fgfbp1	T	A	5: 44,136,672 (GRCm39)	M207L	probably benign	Het
Filip1	T	C	9: 79,727,212 (GRCm39)	E469G	probably damaging	Het
Garem2	T	G	5: 30,321,972 (GRCm39)	L777R	probably damaging	Het
Garin5b	T	A	7: 4,761,186 (GRCm39)	T509S	probably benign	Het
Hkdc1	T	C	10: 62,253,677 (GRCm39)	T35A	probably benign	Het
Hps6	C	T	19: 45,994,121 (GRCm39)	A686V	possibly damaging	Het
Irs1	T	C	1: 82,266,180 (GRCm39)	S679G	probably benign	Het
Ism1	T	A	2: 139,599,293 (GRCm39)	I415N	probably damaging	Het
Kdm1b	TCATTGTCC	TCATTGTCCATTGTCC	13: 47,217,564 (GRCm39)		probably null	Het
Kpna1	G	A	16: 35,851,591 (GRCm39)	A392T	probably damaging	Het
Lipa	T	A	19: 34,488,290 (GRCm39)	R119*	probably null	Het
Lrrc37	T	C	11: 103,505,033 (GRCm39)	T2312A	possibly damaging	Het
Mocs1	A	T	17: 49,756,137 (GRCm39)	K198M	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Muc6	T	A	7: 141,217,423 (GRCm39)	T2417S	possibly 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
Neu3	G	C	7: 99,462,650 (GRCm39)	R358G	probably benign	Het
Ntrk3	A	C	7: 78,166,471 (GRCm39)		probably null	Het
Or1n1	G	A	2: 36,749,637 (GRCm39)	S241F	probably damaging	Het
Or8b12i	T	A	9: 20,082,705 (GRCm39)	H54L	possibly damaging	Het
Or8j3	A	G	2: 86,028,161 (GRCm39)	F312L	probably benign	Het
Pik3c2b	T	C	1: 133,031,166 (GRCm39)	S1491P	probably benign	Het
Plb1	G	T	5: 32,450,586 (GRCm39)	D376Y	probably damaging	Het
Plch1	T	A	3: 63,651,956 (GRCm39)	K378N	probably damaging	Het
Plekhm1	C	T	11: 103,277,948 (GRCm39)	E383K	probably benign	Het
Plxnb1	T	C	9: 108,931,776 (GRCm39)		probably null	Het
Prkdc	A	G	16: 15,472,681 (GRCm39)		probably null	Het
Prpf8	T	A	11: 75,386,189 (GRCm39)	V946E	probably damaging	Het
Psma5-ps	A	G	10: 85,149,595 (GRCm39)		noncoding transcript	Het
Ptprh	C	A	7: 4,606,132 (GRCm39)		probably benign	Het
Rngtt	T	A	4: 33,500,302 (GRCm39)	C565*	probably null	Het
Sacs	A	G	14: 61,442,109 (GRCm39)	H1385R	probably benign	Het
Sec24a	A	G	11: 51,607,277 (GRCm39)	S656P	possibly damaging	Het
Serpinb13	A	T	1: 106,926,756 (GRCm39)	I251L	possibly damaging	Het
Shc1	G	A	3: 89,330,849 (GRCm39)	G91S	probably damaging	Het
Sin3b	T	A	8: 73,460,047 (GRCm39)	N211K	probably benign	Het
Slc22a2	A	T	17: 12,805,692 (GRCm39)	M148L	probably benign	Het
Slc3a1	G	A	17: 85,371,220 (GRCm39)	V591I	probably benign	Het
Slc47a2	A	T	11: 61,219,352 (GRCm39)		probably null	Het
Spag17	C	T	3: 100,014,113 (GRCm39)	P2129S	probably damaging	Het
Specc1l	C	T	10: 75,081,438 (GRCm39)	S278F	probably damaging	Het
Sphkap	T	A	1: 83,234,942 (GRCm39)	D1628V	probably damaging	Het
Themis3	C	T	17: 66,862,699 (GRCm39)	V420I	possibly damaging	Het
Ttc39d	A	G	17: 80,524,675 (GRCm39)	K445E	probably damaging	Het
U2surp	T	C	9: 95,373,473 (GRCm39)	E232G	possibly damaging	Het
Usp25	T	A	16: 76,873,317 (GRCm39)	F458L	probably damaging	Het
Usp7	T	C	16: 8,516,333 (GRCm39)	S649G	probably benign	Het
Vmn1r10	A	G	6: 57,091,088 (GRCm39)	T227A	probably damaging	Het
Zcchc12	C	T	X: 35,462,118 (GRCm39)	T345M	possibly damaging	Het
Zfp444	T	C	7: 6,192,554 (GRCm39)	C191R	probably damaging	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
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
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
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'- TTGTGCTTATAGCCAGACATCTAC -3'

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

Posted On

2014-10-16