Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02992:Msh4'

406997

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Msh4

Ensembl Gene

ENSMUSG00000005493

Gene Name

mutS homolog 4

Synonyms

mMsh4, 4930485C04Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.488) question?

Stock #

IGL02992

Quality Score

Status

Chromosome

Chromosomal Location

153857149-153906138 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 153872325 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 444 (T444K)

Ref Sequence

ENSEMBL: ENSMUSP00000140265 (fasta)

Gene Model

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

AlphaFold

Q99MT2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005630
AA Change: T638K

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493
AA Change: T638K

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

noncoding transcript
Transcript: ENSMUST00000186220

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188338
AA Change: T550K

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493
AA Change: T550K

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

possibly damaging
Transcript: ENSMUST00000190449
AA Change: T444K

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493
AA Change: T444K

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

noncoding transcript
Transcript: ENSMUST00000191504

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191606

Coding Region Coverage

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,719,464	L684M	possibly damaging	Het
Abca4	A	G	3: 122,128,286	K1164E	probably damaging	Het
Arhgap42	G	A	9: 8,998,248		probably benign	Het
Arhgef12	T	C	9: 42,999,077	D612G	probably damaging	Het
Cpne3	T	C	4: 19,532,486	D309G	probably benign	Het
Daw1	T	C	1: 83,197,213		probably benign	Het
Daxx	T	A	17: 33,911,748	C246S	probably damaging	Het
Dpp7	T	C	2: 25,354,577	D264G	possibly damaging	Het
Dync2h1	T	A	9: 7,137,074	H1472L	probably benign	Het
Fastkd2	T	C	1: 63,737,924		probably benign	Het
Fcrls	T	G	3: 87,259,466	R73S	probably damaging	Het
Gatb	A	G	3: 85,618,916	D367G	probably damaging	Het
Gm20547	T	A	17: 34,857,119	E654V	probably damaging	Het
Gm839	T	A	6: 89,212,527		noncoding transcript	Het
Gtf2ird2	A	T	5: 134,217,614	M905L	possibly damaging	Het
Hoxb2	A	T	11: 96,353,084	I174F	probably damaging	Het
Hrh3	A	G	2: 180,100,815	V308A	probably benign	Het
Ints9	A	G	14: 64,980,164	K47E	probably benign	Het
Irak3	A	T	10: 120,182,661	Y61N	probably damaging	Het
Itpr1	A	G	6: 108,381,315	E614G	probably damaging	Het
Lgals3	A	T	14: 47,385,525	I214L	probably benign	Het
Myh7b	C	A	2: 155,621,410	Q521K	probably damaging	Het
Naip5	T	A	13: 100,223,028	I567F	probably damaging	Het
Nf1	A	G	11: 79,434,933		probably benign	Het
Nlrc3	C	T	16: 3,954,023		probably benign	Het
Nlrc5	A	C	8: 94,506,573	E1353A	possibly damaging	Het
Nr1h3	T	A	2: 91,190,566	I260F	probably damaging	Het
Pcnx	G	A	12: 81,964,120	R1211Q	probably damaging	Het
Pde10a	A	G	17: 8,949,461	K605E	probably damaging	Het
Pdzd2	T	C	15: 12,382,622	E1215G	possibly damaging	Het
Pex12	A	G	11: 83,297,927	S81P	probably damaging	Het
Pik3c2b	C	A	1: 133,066,980	Y227*	probably null	Het
Ppef2	C	T	5: 92,235,900	W450*	probably null	Het
Prkg2	T	G	5: 99,024,506	S117R	probably benign	Het
Prl3d2	A	T	13: 27,127,283	E179D	probably benign	Het
Rxfp2	T	C	5: 150,051,556	V210A	probably benign	Het
Scn10a	T	C	9: 119,609,560	T1748A	possibly damaging	Het
Sept10	T	C	10: 59,192,178	N107S	possibly damaging	Het
Smu1	T	A	4: 40,739,550	N420I	probably damaging	Het
Sos1	A	G	17: 80,419,016	F835L	probably benign	Het
Spg11	T	C	2: 122,058,398	D2164G	probably damaging	Het
Svbp	A	G	4: 119,195,930	E8G	probably damaging	Het
Tgm3	T	A	2: 130,041,979	M519K	probably damaging	Het
Tspan12	A	G	6: 21,799,877		probably null	Het
Vps52	T	C	17: 33,958,350	V122A	probably damaging	Het
Wipf1	T	C	2: 73,434,083	Y458C	probably damaging	Het
Zfp369	T	A	13: 65,294,451	D286E	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
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
R8805:Msh4	UTSW	3	153857633	missense	probably benign	0.00
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

Posted On

2016-08-02