Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02240:Msh4'

286026

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 essential (E-score: 0.507) question?

Stock #

IGL02240

Quality Score

Status

Chromosome

Chromosomal Location

153562783-153611495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 153579311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 512 (N512S)

Ref Sequence

ENSEMBL: ENSMUSP00000140190 (fasta)

Gene Model

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

AlphaFold

Q99MT2

Predicted Effect

probably damaging
Transcript: ENSMUST00000005630
AA Change: N600S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493
AA Change: N600S

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

probably damaging
Transcript: ENSMUST00000188338
AA Change: N512S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493
AA Change: N512S

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 damaging
Transcript: ENSMUST00000190449
AA Change: N406S

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493
AA Change: N406S

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cand2	A	G	6: 115,780,623 (GRCm39)	E1169G	probably damaging	Het
Cdc34	A	G	10: 79,523,823 (GRCm39)	D168G	possibly damaging	Het
Cwc27	A	T	13: 104,943,151 (GRCm39)	F130L	probably damaging	Het
Dglucy	T	A	12: 100,837,672 (GRCm39)	M635K	possibly damaging	Het
Eral1	G	A	11: 77,968,687 (GRCm39)	R149*	probably null	Het
Gad1-ps	A	G	10: 99,280,820 (GRCm39)		noncoding transcript	Het
Glis3	A	T	19: 28,508,925 (GRCm39)	L353Q	probably damaging	Het
Gsta2	T	A	9: 78,238,441 (GRCm39)	I213F	probably benign	Het
Ist1	A	T	8: 110,408,836 (GRCm39)		probably benign	Het
Kif1b	A	G	4: 149,330,871 (GRCm39)	V549A	probably damaging	Het
Lrp2	C	T	2: 69,365,390 (GRCm39)	R261H	probably benign	Het
Nlrp2	A	T	7: 5,330,822 (GRCm39)	S525T	probably damaging	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Or8b56	T	A	9: 38,739,602 (GRCm39)	V205D	probably benign	Het
Pcdhb10	A	T	18: 37,545,455 (GRCm39)	H177L	possibly damaging	Het
Plcb3	A	T	19: 6,935,448 (GRCm39)		probably benign	Het
Podxl	A	G	6: 31,501,933 (GRCm39)	L342P	probably damaging	Het
Psd4	T	G	2: 24,286,389 (GRCm39)	S330A	probably benign	Het
Sucla2	A	G	14: 73,828,287 (GRCm39)	D298G	probably damaging	Het
Tecr	T	C	8: 84,300,045 (GRCm39)	D107G	probably damaging	Het
Vamp4	T	A	1: 162,405,446 (GRCm39)	N24K	possibly damaging	Het
Zfp91	A	G	19: 12,753,770 (GRCm39)		probably benign	Het

Other mutations in Msh4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00862:Msh4	APN	3	153,589,372 (GRCm39)	missense	possibly damaging	0.88
IGL01098:Msh4	APN	3	153,583,619 (GRCm39)	splice site	probably benign
IGL01609:Msh4	APN	3	153,603,034 (GRCm39)	missense	probably damaging	1.00
IGL01785:Msh4	APN	3	153,563,144 (GRCm39)	missense	probably damaging	1.00
IGL01939:Msh4	APN	3	153,563,226 (GRCm39)	missense	probably damaging	1.00
IGL02022:Msh4	APN	3	153,592,593 (GRCm39)	missense	probably damaging	1.00
IGL02209:Msh4	APN	3	153,594,499 (GRCm39)	missense	probably damaging	1.00
IGL02224:Msh4	APN	3	153,595,822 (GRCm39)	missense	possibly damaging	0.94
IGL02493:Msh4	APN	3	153,583,545 (GRCm39)	critical splice donor site	probably null
IGL02576:Msh4	APN	3	153,573,383 (GRCm39)	missense	probably damaging	1.00
IGL02616:Msh4	APN	3	153,563,160 (GRCm39)	missense	probably benign
IGL02812:Msh4	APN	3	153,607,037 (GRCm39)	splice site	probably benign
IGL02888:Msh4	APN	3	153,602,550 (GRCm39)	nonsense	probably null
IGL02992:Msh4	APN	3	153,577,962 (GRCm39)	missense	possibly damaging	0.79
IGL03191:Msh4	APN	3	153,575,245 (GRCm39)	missense	probably damaging	0.97
P0021:Msh4	UTSW	3	153,594,455 (GRCm39)	missense	probably damaging	1.00
R0057:Msh4	UTSW	3	153,575,318 (GRCm39)	missense	probably benign	0.16
R0057:Msh4	UTSW	3	153,575,318 (GRCm39)	missense	probably benign	0.16
R0368:Msh4	UTSW	3	153,594,462 (GRCm39)	missense	probably damaging	1.00
R0377:Msh4	UTSW	3	153,602,527 (GRCm39)	missense	probably benign	0.00
R0631:Msh4	UTSW	3	153,572,057 (GRCm39)	missense	probably benign	0.02
R0632:Msh4	UTSW	3	153,602,532 (GRCm39)	missense	probably damaging	1.00
R0677:Msh4	UTSW	3	153,585,004 (GRCm39)	missense	possibly damaging	0.69
R0909:Msh4	UTSW	3	153,569,141 (GRCm39)	missense	probably benign	0.00
R1081:Msh4	UTSW	3	153,577,995 (GRCm39)	missense	probably benign	0.06
R1463:Msh4	UTSW	3	153,563,207 (GRCm39)	missense	probably damaging	1.00
R1476:Msh4	UTSW	3	153,569,021 (GRCm39)	missense	probably damaging	1.00
R1669:Msh4	UTSW	3	153,582,357 (GRCm39)	missense	possibly damaging	0.47
R1733:Msh4	UTSW	3	153,573,404 (GRCm39)	missense	probably damaging	1.00
R1859:Msh4	UTSW	3	153,611,517 (GRCm39)	missense	probably benign
R2168:Msh4	UTSW	3	153,573,472 (GRCm39)	nonsense	probably null
R2378:Msh4	UTSW	3	153,569,114 (GRCm39)	missense	probably damaging	0.99
R2991:Msh4	UTSW	3	153,611,497 (GRCm39)	missense	probably benign
R3025:Msh4	UTSW	3	153,569,128 (GRCm39)	missense	probably damaging	1.00
R4604:Msh4	UTSW	3	153,577,920 (GRCm39)	missense	probably damaging	1.00
R4757:Msh4	UTSW	3	153,585,024 (GRCm39)	missense	probably damaging	0.99
R5205:Msh4	UTSW	3	153,572,049 (GRCm39)	missense	probably damaging	1.00
R5285:Msh4	UTSW	3	153,579,350 (GRCm39)	missense	probably benign	0.03
R5766:Msh4	UTSW	3	153,573,477 (GRCm39)	missense	probably damaging	1.00
R5777:Msh4	UTSW	3	153,569,076 (GRCm39)	missense	probably benign	0.01
R5888:Msh4	UTSW	3	153,573,360 (GRCm39)	critical splice donor site	probably null
R7384:Msh4	UTSW	3	153,594,385 (GRCm39)	missense	probably benign	0.23
R7408:Msh4	UTSW	3	153,582,382 (GRCm39)	missense	probably benign	0.06
R7487:Msh4	UTSW	3	153,569,147 (GRCm39)	missense	probably damaging	1.00
R7503:Msh4	UTSW	3	153,573,387 (GRCm39)	missense	probably damaging	1.00
R7726:Msh4	UTSW	3	153,571,957 (GRCm39)	critical splice donor site	probably null
R7990:Msh4	UTSW	3	153,602,529 (GRCm39)	missense	probably damaging	1.00
R8097:Msh4	UTSW	3	153,583,545 (GRCm39)	critical splice donor site	probably null
R8805:Msh4	UTSW	3	153,563,270 (GRCm39)	missense	probably benign	0.00
R8814:Msh4	UTSW	3	153,577,957 (GRCm39)	missense	probably damaging	1.00
R8861:Msh4	UTSW	3	153,607,105 (GRCm39)	missense	probably benign	0.04
R8970:Msh4	UTSW	3	153,575,369 (GRCm39)	nonsense	probably null
R9010:Msh4	UTSW	3	153,595,819 (GRCm39)	missense	probably benign	0.30
R9338:Msh4	UTSW	3	153,573,444 (GRCm39)	missense	possibly damaging	0.55
R9598:Msh4	UTSW	3	153,607,148 (GRCm39)	missense	possibly damaging	0.93
R9780:Msh4	UTSW	3	153,582,342 (GRCm39)	missense	probably damaging	1.00
Z1177:Msh4	UTSW	3	153,607,080 (GRCm39)	start gained	probably benign
Z1177:Msh4	UTSW	3	153,585,005 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16