Mutagenetix > Incidental Mutation

Incidental Mutation 'P0021:Msh4'

7794

Institutional Source

Beutler Lab

Gene Symbol

Msh4

Ensembl Gene

ENSMUSG00000005493

Gene Name

mutS homolog 4

Synonyms

mMsh4, 4930485C04Rik

MMRRC Submission

038274-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.562) question?

Stock #

P0021 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

153562783-153611495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 153594455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 115 (E115D)

Ref Sequence

ENSEMBL: ENSMUSP00000140265 (fasta)

Gene Model

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

AlphaFold

Q99MT2

Predicted Effect

probably damaging
Transcript: ENSMUST00000005630
AA Change: E309D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493
AA Change: E309D

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 damaging
Transcript: ENSMUST00000188338
AA Change: E221D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493
AA Change: E221D

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: E115D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493
AA Change: E115D

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

Meta Mutation Damage Score

0.0864

Coding Region Coverage

1x: 73.1%
3x: 63.5%
10x: 31.6%
20x: 17.3%

Validation Efficiency

79% (146/184)

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: 7 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Fas	A	G	19: 34,284,610 (GRCm39)	E39G	probably damaging	Het
Fig4	A	G	10: 41,127,821 (GRCm39)	S548P	probably damaging	Het
Ptpn13	A	G	5: 103,676,686 (GRCm39)	E683G	probably benign	Het
Rasgrp3	G	T	17: 75,807,708 (GRCm39)	R255L	probably damaging	Het
Rnf168	C	T	16: 32,117,705 (GRCm39)	T422I	probably damaging	Het
Smarcd1	T	C	15: 99,610,242 (GRCm39)		probably benign	Het
Stxbp1	T	C	2: 32,713,550 (GRCm39)	K29E	probably damaging	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
IGL02240:Msh4	APN	3	153,579,311 (GRCm39)	missense	probably damaging	0.98
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
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

2012-10-29