Mutagenetix > Incidental Mutation

Incidental Mutation 'R9598:Msh4'

723377

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: 0.477) question?

Stock #

R9598 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

153857149-153906138 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 153901511 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 131 (S131T)

Ref Sequence

ENSEMBL: ENSMUSP00000005630 (fasta)

Gene Model

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

AlphaFold

Q99MT2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005630
AA Change: S131T

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493
AA Change: S131T

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: S43T

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493
AA Change: S43T

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

SMART Domains

Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,231,407	I302V	probably benign	Het
Ackr2	A	C	9: 121,908,591	T11P	possibly damaging	Het
Ahnak	A	G	19: 9,003,785	N811S	probably benign	Het
Atm	T	C	9: 53,520,081	I326V	probably benign	Het
Cdh23	A	T	10: 60,378,795	F1480L	probably benign	Het
Celsr2	T	C	3: 108,415,262	E78G	possibly damaging	Het
Ces1f	A	T	8: 93,256,866	N504K	probably benign	Het
Chrna4	G	A	2: 181,037,471	S61L	probably damaging	Het
Clcn3	G	T	8: 60,913,027	T864K	unknown	Het
Cym	A	C	3: 107,219,625	D71E	possibly damaging	Het
Ddx19b	T	C	8: 111,021,041	D87G	probably benign	Het
Dnah7b	T	C	1: 46,253,461	V3002A	possibly damaging	Het
Dnmt3a	G	A	12: 3,896,997	G408S	probably benign	Het
Dock10	A	T	1: 80,648,222	D66E	probably benign	Het
Dsg3	A	G	18: 20,539,732	D820G	probably damaging	Het
Dst	G	A	1: 34,113,933	V92I	possibly damaging	Het
Dusp16	T	A	6: 134,718,222	T549S	probably benign	Het
Ephx1	T	A	1: 180,999,816	K91*	probably null	Het
Flii	A	G	11: 60,727,165	F9L	probably benign	Het
Fmn2	T	C	1: 174,608,742	S760P	unknown	Het
Fmnl3	A	T	15: 99,325,329	V378E	probably damaging	Het
Gbp4	A	G	5: 105,136,874	S50P	probably damaging	Het
Glra3	G	T	8: 55,940,683		probably benign	Het
Gm10188	T	C	1: 132,229,295	D111G	unknown	Het
Gnptab	A	T	10: 88,412,014	E101V	probably damaging	Het
Hacl1	C	A	14: 31,610,240	M525I	probably benign	Het
Hid1	T	A	11: 115,348,912	T731S	probably damaging	Het
Ifi203	T	C	1: 173,923,956	Y847C	probably damaging	Het
Igfbpl1	C	A	4: 45,815,472	L221F	probably null	Het
Ighv1-12	A	G	12: 114,616,137	Y22H	probably benign	Het
Inpp5f	A	C	7: 128,676,791	D435A	possibly damaging	Het
L3mbtl4	T	A	17: 68,559,772	H335Q	probably benign	Het
Mapre2	A	G	18: 23,883,650	D287G	probably benign	Het
Mfsd14b	G	A	13: 65,066,708	R477W	probably benign	Het
Mfsd14b	C	A	13: 65,073,600	V293L	probably benign	Het
Nat8f2	A	T	6: 85,867,866	D171E	probably benign	Het
Ndufb5	G	T	3: 32,741,732	L24F	probably benign	Het
Nkain2	T	C	10: 32,402,295	I45V	probably damaging	Het
Nlrp9b	T	G	7: 20,019,377	M69R	probably benign	Het
Olfr1167	A	C	2: 88,149,591	C143G	probably damaging	Het
Olfr1176	A	T	2: 88,340,477	K304I	possibly damaging	Het
Olfr1281	A	T	2: 111,329,288	R290*	probably null	Het
Oxct2b	T	A	4: 123,116,620	V111E	possibly damaging	Het
Parva	T	A	7: 112,588,546	V350D	probably damaging	Het
Pcdhb7	A	G	18: 37,342,381	D190G	probably damaging	Het
Pik3c2b	T	C	1: 133,084,987		probably null	Het
Plcz1	T	A	6: 140,039,758	Q19L	possibly damaging	Het
Prag1	A	G	8: 36,103,915	N551D	probably benign	Het
Rb1cc1	G	A	1: 6,239,965	V196I	probably damaging	Het
Rnf113a2	T	C	12: 84,417,496	V54A	probably benign	Het
Sec14l1	G	A	11: 117,153,276	E537K	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Shtn1	T	A	19: 59,038,303	I119F	probably damaging	Het
Szt2	A	G	4: 118,409,161		probably null	Het
Tasp1	T	C	2: 139,977,647	D212G	probably benign	Het
Tmpo	A	G	10: 91,158,746		probably null	Het
Usp17lb	T	C	7: 104,840,511	K403R	probably benign	Het
Vcpip1	A	G	1: 9,745,794	V788A	probably benign	Het
Wdr25	C	A	12: 108,898,687	H253N	probably benign	Het
Wisp1	T	A	15: 66,912,915	C146S	possibly damaging	Het
Wwc2	G	A	8: 47,875,325	S367L	probably damaging	Het
Zfr	A	G	15: 12,162,206	E814G	probably 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
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
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'- GTAGATGAACCTCAAATGAGCTAACC -3'
(R):5'- CGGAAATGTTACAATGGAGCC -3'

Sequencing Primer
(F):5'- ATCCTACTTGTGGTGTCC -3'
(R):5'- CAATGGAGCCACGTATAATAATGC -3'

Posted On

2022-08-09