Mutagenetix > Incidental Mutation

Incidental Mutation 'R1476:Msh4'

164044

Institutional Source

Beutler Lab

Gene Symbol

Msh4

Ensembl Gene

ENSMUSG00000005493

Gene Name

mutS homolog 4

Synonyms

mMsh4, 4930485C04Rik

MMRRC Submission

039529-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.482) question?

Stock #

R1476 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153857149-153906138 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 153863384 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 851 (Y851N)

Ref Sequence

ENSEMBL: ENSMUSP00000005630 (fasta)

Gene Model

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

AlphaFold

Q99MT2

Predicted Effect

probably damaging
Transcript: ENSMUST00000005630
AA Change: Y851N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493
AA Change: Y851N

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: ENSMUST00000158139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186220

Predicted Effect

probably damaging
Transcript: ENSMUST00000188338
AA Change: Y763N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493
AA Change: Y763N

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

noncoding transcript
Transcript: ENSMUST00000189189

Predicted Effect

probably damaging
Transcript: ENSMUST00000190449
AA Change: Y657N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493
AA Change: Y657N

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: ENSMUST00000191083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191504

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191606

Meta Mutation Damage Score

0.4602

Coding Region Coverage

1x: 99.3%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

95% (80/84)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,208,702		probably benign	Het
4932431P20Rik	A	G	7: 29,534,890		noncoding transcript	Het
A730015C16Rik	G	A	4: 108,848,008	V40M	probably damaging	Het
Abcg2	A	G	6: 58,678,337	D419G	probably benign	Het
Adamts17	A	C	7: 67,075,343	E777A	probably damaging	Het
Ak1	A	G	2: 32,633,466	K166R	probably benign	Het
Ankrd12	T	C	17: 65,986,305	K711R	probably damaging	Het
Ate1	A	T	7: 130,418,571		probably null	Het
Atp5a1	A	G	18: 77,781,925	H519R	probably benign	Het
Best1	G	T	19: 9,990,489	Y284*	probably null	Het
C2cd6	A	G	1: 59,076,728		probably benign	Het
Casz1	G	T	4: 148,946,171	V1216L	probably benign	Het
Cdc42bpg	A	G	19: 6,313,782	D493G	probably damaging	Het
Ces2f	A	G	8: 104,952,502	D317G	possibly damaging	Het
Chst15	A	T	7: 132,270,273	M93K	possibly damaging	Het
Cntnap5a	T	C	1: 115,901,020	L58P	probably damaging	Het
Crip3	T	C	17: 46,430,776		probably benign	Het
Csmd2	G	A	4: 128,487,001	E2117K	probably benign	Het
Cstf3	A	G	2: 104,648,219	D212G	possibly damaging	Het
Cttnbp2	T	C	6: 18,434,221	K546R	probably damaging	Het
Cubn	A	G	2: 13,476,120	I308T	probably benign	Het
Cxcl9	T	A	5: 92,325,113	D75V	probably damaging	Het
Dcdc5	C	T	2: 106,358,632		noncoding transcript	Het
Defa30	C	A	8: 21,134,736	T25K	possibly damaging	Het
Dock7	A	T	4: 99,079,435	H239Q	possibly damaging	Het
Dpp4	A	G	2: 62,347,901	V629A	possibly damaging	Het
Fam83a	T	C	15: 58,009,945	M390T	probably benign	Het
Fem1c	A	G	18: 46,524,485	L54P	probably damaging	Het
Fntb	T	A	12: 76,910,233	M282K	probably benign	Het
Gm11099	G	A	2: 58,859,470		probably benign	Het
Gm1527	T	C	3: 28,926,556	S602P	probably benign	Het
Gm20388	A	G	8: 122,269,584		probably benign	Het
Gm5478	T	A	15: 101,644,645	I331F	probably damaging	Het
Gm7853	C	A	14: 36,089,583		noncoding transcript	Het
Gsta2	A	T	9: 78,341,865	C18S	probably benign	Het
H1foo	T	C	6: 115,947,740	V69A	possibly damaging	Het
Hecw1	T	C	13: 14,306,086	E465G	probably damaging	Het
Herc1	A	G	9: 66,508,266	D4841G	probably damaging	Het
Hus1b	A	G	13: 30,947,001	V225A	probably benign	Het
Keg1	A	T	19: 12,716,023	M137L	probably benign	Het
Kmt2a	C	T	9: 44,824,635		probably benign	Het
Megf6	G	T	4: 154,177,121	V68L	probably benign	Het
Mga	T	A	2: 119,941,675	V1672E	probably damaging	Het
Mios	T	C	6: 8,234,237	S803P	probably benign	Het
Mkl1	T	C	15: 81,018,208		probably benign	Het
Mybl1	A	C	1: 9,672,661		probably null	Het
Myo5c	A	G	9: 75,275,939	Y865C	probably damaging	Het
Naip1	T	C	13: 100,426,870	S596G	probably benign	Het
Nek5	G	T	8: 22,096,731	Q355K	possibly damaging	Het
Nphp3	G	T	9: 104,025,927	R701L	possibly damaging	Het
Olfr1006	T	A	2: 85,674,918	T78S	possibly damaging	Het
Olfr1023	T	A	2: 85,887,248	Y149*	probably null	Het
Olfr1052	T	C	2: 86,298,479	I221T	probably damaging	Het
Olfr1094	T	C	2: 86,829,198	S149P	probably benign	Het
Olfr666	A	T	7: 104,893,237	Y130*	probably null	Het
Palm	A	G	10: 79,815,187	N149D	possibly damaging	Het
Pot1b	T	C	17: 55,653,451	I626M	possibly damaging	Het
Ptprt	T	A	2: 161,927,484	D487V	probably damaging	Het
Qpct	A	G	17: 79,070,772	I124V	probably benign	Het
Rbm12b1	T	A	4: 12,145,817	D596E	possibly damaging	Het
Rnf157	A	G	11: 116,354,759	C277R	probably damaging	Het
Rnf169	A	G	7: 99,925,328	S687P	possibly damaging	Het
Sfxn1	T	A	13: 54,092,450		probably null	Het
Slc6a21	T	C	7: 45,272,628	V649A	probably benign	Het
Slit3	A	T	11: 35,686,299	T1120S	probably damaging	Het
Spem2	A	T	11: 69,818,070	M58K	probably benign	Het
Sprr2k	T	A	3: 92,433,396		probably benign	Het
Sspo	T	C	6: 48,463,400		probably null	Het
Sv2b	A	T	7: 75,120,043	F584I	possibly damaging	Het
Tkfc	A	T	19: 10,595,326	M317K	probably null	Het
Tnni3k	C	T	3: 155,030,305	G134S	probably benign	Het
Ttn	C	T	2: 76,739,780	R26923H	probably damaging	Het
Tuba3b	T	C	6: 145,618,453	V75A	possibly damaging	Het
Unc79	T	C	12: 103,183,525	L2626P	probably damaging	Het
Usp24	A	T	4: 106,361,933	I491F	probably damaging	Het
V1ra8	A	T	6: 90,203,150	I112F	probably damaging	Het
Vmn1r29	T	G	6: 58,307,678	F128V	probably benign	Het
Zfp157	T	A	5: 138,455,095		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CAAGCCAATGTTTCCAGGGCTTTC -3'
(R):5'- CCCATGACCTGAACATGTCCATCTC -3'

Sequencing Primer
(F):5'- gtgatgtaatgtaatgtgatgtgatg -3'
(R):5'- GAACATGTCCATCTCTGAGATACTGG -3'

Posted On

2014-03-28