Mutagenetix > Incidental Mutation

Incidental Mutation 'R8805:Msh4'

671987

Institutional Source

Beutler Lab

Gene Symbol

Msh4

Ensembl Gene

ENSMUSG00000005493

Gene Name

mutS homolog 4

Synonyms

mMsh4, 4930485C04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.482) question?

Stock #

R8805 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

153857149-153906138 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 153857633 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 896 (Q896L)

Ref Sequence

ENSEMBL: ENSMUSP00000005630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005630] [ENSMUST00000044089] [ENSMUST00000188338] [ENSMUST00000190449] [ENSMUST00000198849]

AlphaFold

Q99MT2

Predicted Effect

probably benign
Transcript: ENSMUST00000005630
AA Change: Q896L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493
AA Change: Q896L

Domain	Start	End	E-Value	Type
low complexity region	91	107	N/A	INTRINSIC
Pfam:MutS_II	177	321	2.3e-20	PFAM
MUTSd	352	679	3.77e-37	SMART
MUTSac	695	888	1.6e-81	SMART
Blast:MUTSac	912	956	1e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000044089

SMART Domains

Protein: ENSMUSP00000041293
Gene: ENSMUSG00000038997

Domain	Start	End	E-Value	Type
ANK	93	123	3.81e2	SMART
ANK	146	176	2.83e0	SMART
SOCS_box	253	294	9.96e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188338
AA Change: Q808L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493
AA Change: Q808L

Domain	Start	End	E-Value	Type
Pfam:MutS_II	89	233	5.3e-19	PFAM
MUTSd	264	591	9.4e-40	SMART
MUTSac	607	800	4.2e-84	SMART
Blast:MUTSac	808	866	4e-17	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000190449
AA Change: Q702L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493
AA Change: Q702L

Domain	Start	End	E-Value	Type
Pfam:MutS_II	1	127	3.3e-15	PFAM
MUTSd	158	485	9.4e-40	SMART
MUTSac	501	694	4.2e-84	SMART
Blast:MUTSac	702	760	5e-17	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000198849

SMART Domains

Protein: ENSMUSP00000142678
Gene: ENSMUSG00000038997

Domain	Start	End	E-Value	Type
Blast:ANK	93	123	3e-14	BLAST

Coding Region Coverage

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

Validation Efficiency

96% (70/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I. This protein and MSH5 form a heterodimer which binds uniquely to a Holliday Junction and its developmental progenitor, thus provoking ADP-ATP exchange, and stabilizing the interaction between parental chromosomes during meiosis double-stranded break repair. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit male and female sterility associated with failure to undergo pairing during meiosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 9,007,905	W467*	probably null	Het
4921509C19Rik	A	T	2: 151,471,365		probably benign	Het
Actl6b	G	A	5: 137,554,656	M82I	probably benign	Het
Bmp2	T	A	2: 133,561,334	D268E	probably damaging	Het
C530008M17Rik	T	C	5: 76,858,642	V950A	unknown	Het
Cacng7	T	A	7: 3,366,782	L221H	probably damaging	Het
Ccser2	A	G	14: 36,879,755	V224A	probably damaging	Het
Cdc40	A	G	10: 40,857,580	F125L	probably damaging	Het
Cfap46	C	T	7: 139,632,063	A1669T	unknown	Het
Cfap58	A	T	19: 47,953,096	E301V	probably damaging	Het
Clcn2	C	A	16: 20,713,418	G96C	probably damaging	Het
Cotl1	T	A	8: 119,810,205		probably benign	Het
Cps1	G	A	1: 67,176,951	A812T	probably damaging	Het
Crnkl1	T	C	2: 145,931,430		probably null	Het
Cry1	A	G	10: 85,157,105	V83A	probably benign	Het
Cyp2a5	G	T	7: 26,841,105	R381L	probably damaging	Het
Cyp46a1	T	C	12: 108,361,203	F425L	probably damaging	Het
Dek	A	T	13: 47,099,454	N158K	unknown	Het
Dgcr8	T	A	16: 18,258,297	Q674L	probably damaging	Het
Dlec1	C	A	9: 119,112,582	S345R	probably benign	Het
Dnah7b	T	A	1: 46,234,145	C2478S	possibly damaging	Het
Dstyk	T	A	1: 132,434,225	L131Q	probably damaging	Het
Fbxw7	T	A	3: 84,954,920	L186M		Het
Fn1	T	C	1: 71,605,080	Q1684R	probably benign	Het
Fsip2	C	A	2: 82,983,109	H3257Q	possibly damaging	Het
Gm5773	T	C	3: 93,773,735	V238A	probably damaging	Het
Gm9611	T	C	14: 42,294,700	D131G		Het
Gpatch8	T	C	11: 102,480,192	E840G	unknown	Het
Grm5	G	A	7: 87,803,968	R271Q	probably damaging	Het
Has3	A	T	8: 106,874,503	Y199F	probably damaging	Het
Hmcn2	A	G	2: 31,425,381	N3714S	probably benign	Het
Idh1	CA	CAA	1: 65,165,188		probably null	Het
Il2	T	A	3: 37,123,133	T85S	possibly damaging	Het
Kank4	T	C	4: 98,780,036	H58R	possibly damaging	Het
Kcnk4	T	A	19: 6,928,011	I154F	probably damaging	Het
Krt2	T	C	15: 101,815,944	K295R	possibly damaging	Het
Lipm	A	T	19: 34,112,908	D163V	probably damaging	Het
Lpl	A	G	8: 68,887,563	N70S	probably damaging	Het
Mgme1	A	G	2: 144,272,531		probably benign	Het
Mnd1	T	A	3: 84,088,125	E187D	probably benign	Het
Morn5	A	G	2: 36,079,521	D149G	probably benign	Het
Mrrf	G	A	2: 36,147,953	V79I	probably damaging	Het
Mtus2	A	C	5: 148,078,493	M699L	possibly damaging	Het
Mycbp	T	A	4: 123,910,087	C130S	unknown	Het
Ntn5	A	T	7: 45,684,475	Y4F	probably benign	Het
Olfr868	T	C	9: 20,101,284	V175A	probably benign	Het
Osm	A	G	11: 4,239,839	S208G	probably benign	Het
Pcsk6	T	A	7: 65,929,143	Y222N	possibly damaging	Het
Pde6a	A	G	18: 61,257,033	E486G	probably benign	Het
Pdzk1	T	A	3: 96,851,594	L105Q	possibly damaging	Het
Prkd1	C	G	12: 50,388,372	S524T	probably benign	Het
Prkd1	T	A	12: 50,388,373	S524C	probably damaging	Het
Rab4b	T	C	7: 27,174,723	I90V		Het
Rc3h1	T	C	1: 160,967,652	V1083A	probably benign	Het
Rfx7	C	T	9: 72,617,034	T502I	probably benign	Het
Rtn4rl2	T	C	2: 84,872,214	Y332C	probably damaging	Het
Senp2	A	G	16: 22,028,039	T265A	probably benign	Het
Slc38a3	T	C	9: 107,655,146	M396V	probably benign	Het
Sord	G	A	2: 122,264,126	V332I	probably benign	Het
Sprr1b	GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGAGCCTTGGGATGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA	GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA	3: 92,437,346		probably benign	Het
Star	G	A	8: 25,809,549	R53H	probably benign	Het
Stard4	T	G	18: 33,203,696	I189L	possibly damaging	Het
Stk38	G	T	17: 29,000,120	T7K	probably benign	Het
Stxbp5	T	A	10: 9,838,115	K227*	probably null	Het
Taf4b	C	T	18: 14,813,428	P436L	possibly damaging	Het
Tgm3	T	A	2: 130,047,782	V632E	probably damaging	Het
Tmem158	A	G	9: 123,260,244	F101S	probably damaging	Het
Trmt10b	T	C	4: 45,301,281	S77P	probably benign	Het
Ttn	A	T	2: 76,889,963	L6973*	probably null	Het
Tubal3	T	C	13: 3,933,293	F358L	probably damaging	Het
Vmn1r214	C	T	13: 23,035,103	L256F	possibly damaging	Het
Vmn2r86	A	G	10: 130,446,527	V740A	probably benign	Het
Yipf1	A	T	4: 107,336,158	E80D	probably benign	Het
Zcchc11	T	C	4: 108,549,378	V1381A	possibly damaging	Het
Zdhhc2	G	T	8: 40,445,805		probably null	Het
Zfp655	C	T	5: 145,244,480	H383Y	probably damaging	Het
Zfp981	C	T	4: 146,537,953	T445I	possibly damaging	Het

Other mutations in Msh4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00862:Msh4	APN	3	153883735	missense	possibly damaging	0.88
IGL01098:Msh4	APN	3	153877982	splice site	probably benign
IGL01609:Msh4	APN	3	153897397	missense	probably damaging	1.00
IGL01785:Msh4	APN	3	153857507	missense	probably damaging	1.00
IGL01939:Msh4	APN	3	153857589	missense	probably damaging	1.00
IGL02022:Msh4	APN	3	153886956	missense	probably damaging	1.00
IGL02209:Msh4	APN	3	153888862	missense	probably damaging	1.00
IGL02224:Msh4	APN	3	153890185	missense	possibly damaging	0.94
IGL02240:Msh4	APN	3	153873674	missense	probably damaging	0.98
IGL02493:Msh4	APN	3	153877908	critical splice donor site	probably null
IGL02576:Msh4	APN	3	153867746	missense	probably damaging	1.00
IGL02616:Msh4	APN	3	153857523	missense	probably benign
IGL02812:Msh4	APN	3	153901400	splice site	probably benign
IGL02888:Msh4	APN	3	153896913	nonsense	probably null
IGL02992:Msh4	APN	3	153872325	missense	possibly damaging	0.79
IGL03191:Msh4	APN	3	153869608	missense	probably damaging	0.97
P0021:Msh4	UTSW	3	153888818	missense	probably damaging	1.00
R0057:Msh4	UTSW	3	153869681	missense	probably benign	0.16
R0057:Msh4	UTSW	3	153869681	missense	probably benign	0.16
R0368:Msh4	UTSW	3	153888825	missense	probably damaging	1.00
R0377:Msh4	UTSW	3	153896890	missense	probably benign	0.00
R0631:Msh4	UTSW	3	153866420	missense	probably benign	0.02
R0632:Msh4	UTSW	3	153896895	missense	probably damaging	1.00
R0677:Msh4	UTSW	3	153879367	missense	possibly damaging	0.69
R0909:Msh4	UTSW	3	153863504	missense	probably benign	0.00
R1081:Msh4	UTSW	3	153872358	missense	probably benign	0.06
R1463:Msh4	UTSW	3	153857570	missense	probably damaging	1.00
R1476:Msh4	UTSW	3	153863384	missense	probably damaging	1.00
R1669:Msh4	UTSW	3	153876720	missense	possibly damaging	0.47
R1733:Msh4	UTSW	3	153867767	missense	probably damaging	1.00
R1859:Msh4	UTSW	3	153905880	missense	probably benign
R2168:Msh4	UTSW	3	153867835	nonsense	probably null
R2378:Msh4	UTSW	3	153863477	missense	probably damaging	0.99
R2991:Msh4	UTSW	3	153905860	missense	probably benign
R3025:Msh4	UTSW	3	153863491	missense	probably damaging	1.00
R4604:Msh4	UTSW	3	153872283	missense	probably damaging	1.00
R4757:Msh4	UTSW	3	153879387	missense	probably damaging	0.99
R5205:Msh4	UTSW	3	153866412	missense	probably damaging	1.00
R5285:Msh4	UTSW	3	153873713	missense	probably benign	0.03
R5766:Msh4	UTSW	3	153867840	missense	probably damaging	1.00
R5777:Msh4	UTSW	3	153863439	missense	probably benign	0.01
R5888:Msh4	UTSW	3	153867723	critical splice donor site	probably null
R7384:Msh4	UTSW	3	153888748	missense	probably benign	0.23
R7408:Msh4	UTSW	3	153876745	missense	probably benign	0.06
R7487:Msh4	UTSW	3	153863510	missense	probably damaging	1.00
R7503:Msh4	UTSW	3	153867750	missense	probably damaging	1.00
R7726:Msh4	UTSW	3	153866320	critical splice donor site	probably null
R7990:Msh4	UTSW	3	153896892	missense	probably damaging	1.00
R8097:Msh4	UTSW	3	153877908	critical splice donor site	probably null
R8814:Msh4	UTSW	3	153872320	missense	probably damaging	1.00
R8861:Msh4	UTSW	3	153901468	missense	probably benign	0.04
R8970:Msh4	UTSW	3	153869732	nonsense	probably null
R9010:Msh4	UTSW	3	153890182	missense	probably benign	0.30
R9338:Msh4	UTSW	3	153867807	missense	possibly damaging	0.55
R9598:Msh4	UTSW	3	153901511	missense	possibly damaging	0.93
R9780:Msh4	UTSW	3	153876705	missense	probably damaging	1.00
Z1177:Msh4	UTSW	3	153879368	missense	probably benign	0.00
Z1177:Msh4	UTSW	3	153901443	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- ACACCGTGTACTGGTCACTC -3'
(R):5'- CAGACTCATCTCTCTGCTGAG -3'

Sequencing Primer
(F):5'- ACTCCTCAGTCTTCTCTGGAAGG -3'
(R):5'- GTCATTTGCAAGGATATGAGACTTTC -3'

Posted On

2021-04-30