Mutagenetix > Incidental Mutation

Incidental Mutation 'R0677:Msh4'

61667

Institutional Source

Beutler Lab

Gene Symbol

Msh4

Ensembl Gene

ENSMUSG00000005493

Gene Name

mutS homolog 4

Synonyms

mMsh4, 4930485C04Rik

MMRRC Submission

038862-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.562) question?

Stock #

R0677 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

153562783-153611495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 153585004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 367 (P367S)

Ref Sequence

ENSEMBL: ENSMUSP00000140190 (fasta)

Gene Model

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

AlphaFold

Q99MT2

Predicted Effect

probably benign
Transcript: ENSMUST00000005630
AA Change: P455S

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493
AA Change: P455S

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: P367S

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493
AA Change: P367S

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: P261S

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493
AA Change: P261S

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

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.6%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	G	A	6: 132,603,520 (GRCm39)	Q79*	probably null	Het
Apol8	A	C	15: 77,634,051 (GRCm39)	I175S	probably damaging	Het
BC004004	T	C	17: 29,517,638 (GRCm39)	F284S	probably damaging	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dchs1	G	A	7: 105,414,191 (GRCm39)	R875C	probably damaging	Het
Depdc5	A	C	5: 33,058,814 (GRCm39)	N261T	probably damaging	Het
Flrt1	A	T	19: 7,073,544 (GRCm39)	C334*	probably null	Het
Galnt5	T	A	2: 57,888,992 (GRCm39)	Y197*	probably null	Het
Gp5	A	G	16: 30,127,193 (GRCm39)	S494P	probably benign	Het
Ifnlr1	T	A	4: 135,432,945 (GRCm39)	D460E	possibly damaging	Het
Mrgpra4	C	T	7: 47,630,728 (GRCm39)	S291N	probably benign	Het
Myct1	G	T	10: 5,554,261 (GRCm39)	V43F	probably benign	Het
Ndst2	G	A	14: 20,779,647 (GRCm39)	R198W	probably benign	Het
Ogdhl	A	T	14: 32,061,882 (GRCm39)	H500L	probably damaging	Het
Or52s1	C	T	7: 102,862,005 (GRCm39)	R302*	probably null	Het
Or6c2b	T	A	10: 128,947,947 (GRCm39)	M116L	probably damaging	Het
Pkhd1	C	T	1: 20,594,454 (GRCm39)	G1220S	probably benign	Het
Slc26a4	A	G	12: 31,599,910 (GRCm39)		probably null	Het
Spata31g1	T	A	4: 42,970,952 (GRCm39)	L59*	probably null	Het
Sytl1	A	T	4: 132,980,536 (GRCm39)	C551S	possibly damaging	Het
Uri1	T	C	7: 37,664,925 (GRCm39)	N256D	probably benign	Het
Vmn2r114	T	G	17: 23,529,568 (GRCm39)	D178A	probably damaging	Het
Vmn2r23	C	T	6: 123,690,410 (GRCm39)	L429F	probably benign	Het
Washc2	T	C	6: 116,221,577 (GRCm39)	L685P	probably damaging	Het
Wipi2	A	T	5: 142,643,989 (GRCm39)	I124F	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGAGGTTATGTAGGACACCCTTGCTC -3'
(R):5'- CTCTCATCAAAGTTTCAGGAGACCAGC -3'

Sequencing Primer
(F):5'- cacccttgctcatagaaaagac -3'
(R):5'- GTTTCAGGAGACCAGCATATTG -3'

Posted On

2013-07-30