Mutagenetix > Incidental Mutation

Incidental Mutation 'R1463:Msh4'

159211

Institutional Source

Beutler Lab

Gene Symbol

Msh4

Ensembl Gene

ENSMUSG00000005493

Gene Name

mutS homolog 4

Synonyms

mMsh4, 4930485C04Rik

MMRRC Submission

039517-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.477) question?

Stock #

R1463 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153857149-153906138 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 153857570 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 723 (L723P)

Ref Sequence

ENSEMBL: ENSMUSP00000140265 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005630] [ENSMUST00000044089] [ENSMUST00000188338] [ENSMUST00000190449] [ENSMUST00000198849]

AlphaFold

Q99MT2

Predicted Effect

probably damaging
Transcript: ENSMUST00000005630
AA Change: L917P

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

SMART Domains

Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493
AA Change: L917P

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 benign
Transcript: ENSMUST00000044089

SMART Domains

Protein: ENSMUSP00000041293
Gene: ENSMUSG00000038997

Domain	Start	End	E-Value	Type
ANK	93	123	3.81e2	SMART
ANK	146	176	2.83e0	SMART
SOCS_box	253	294	9.96e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186220

Predicted Effect

probably damaging
Transcript: ENSMUST00000188338
AA Change: L829P

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

SMART Domains

Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493
AA Change: L829P

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: L723P

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

SMART Domains

Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493
AA Change: L723P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000198849

SMART Domains

Protein: ENSMUSP00000142678
Gene: ENSMUSG00000038997

Domain	Start	End	E-Value	Type
Blast:ANK	93	123	3e-14	BLAST

Meta Mutation Damage Score

0.3314

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

97% (97/100)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	C	A	5: 5,452,073		probably benign	Het
4931408C20Rik	G	T	1: 26,682,141	Y1319*	probably null	Het
Abca5	A	T	11: 110,314,558	I299N	probably damaging	Het
Abcc8	T	C	7: 46,154,512	T413A	probably benign	Het
Actc1	G	A	2: 114,049,529	S201F	probably damaging	Het
Adam30	G	A	3: 98,162,525	C558Y	probably damaging	Het
Adcy4	T	A	14: 55,778,939	I352F	probably damaging	Het
Adgrl4	A	T	3: 151,510,596	D472V	probably damaging	Het
Afap1l2	T	A	19: 56,930,151	M117L	probably benign	Het
AI597479	T	C	1: 43,113,229	V229A	probably damaging	Het
Ascc1	T	C	10: 60,062,516	V267A	probably benign	Het
Asxl3	A	G	18: 22,516,753	S600G	possibly damaging	Het
Atg14	T	C	14: 47,548,994	I268V	probably benign	Het
Bcas1	C	T	2: 170,418,664	V32I	probably benign	Het
Cacna1c	G	T	6: 118,593,994	D2106E	probably benign	Het
Cacna1i	A	G	15: 80,379,054	H1440R	possibly damaging	Het
Catsper2	G	A	2: 121,406,446	T240M	probably damaging	Het
Cd163	A	G	6: 124,311,447	E279G	probably damaging	Het
Cdx2	C	T	5: 147,306,660	S108N	probably benign	Het
Cenpf	A	T	1: 189,654,739	N1781K	probably damaging	Het
Cgref1	T	A	5: 30,935,994		probably benign	Het
Clcn4	C	T	7: 7,296,764	W22*	probably null	Het
Cntn2	A	G	1: 132,521,137		probably null	Het
Cntn5	C	T	9: 9,673,796		probably null	Het
Cpeb3	A	G	19: 37,139,100	M377T	probably benign	Het
Cryge	T	A	1: 65,048,838	R135*	probably null	Het
Ctdsp2	C	A	10: 126,993,921		probably benign	Het
Ctsll3	G	A	13: 60,801,275		probably benign	Het
Cuzd1	C	A	7: 131,316,642	G189C	probably damaging	Het
Dmbt1	T	A	7: 131,109,637		probably null	Het
Dnajc13	A	T	9: 104,178,940	S1587R	probably damaging	Het
Dock4	GCTCAGTGTATC	GC	12: 40,816,325		probably null	Het
Dock6	T	C	9: 21,831,906	H701R	probably damaging	Het
Edem3	A	G	1: 151,807,510	T646A	possibly damaging	Het
Esrra	A	C	19: 6,912,455	D160E	probably benign	Het
Fbn2	T	C	18: 58,010,380	T2868A	probably benign	Het
Galnt7	T	A	8: 57,652,858	M41L	probably benign	Het
Gbf1	T	C	19: 46,271,545		probably benign	Het
Glyat	A	G	19: 12,648,103	N63S	probably damaging	Het
Gm9376	A	T	14: 118,267,482	M109L	probably benign	Het
H2-M10.3	A	G	17: 36,366,720	V222A	probably damaging	Het
Ifna12	T	G	4: 88,602,956	D118A	possibly damaging	Het
Inpp5j	T	C	11: 3,501,147	M501V	probably benign	Het
Itpr3	C	T	17: 27,117,154		probably benign	Het
Ivns1abp	A	G	1: 151,361,540	N527S	probably benign	Het
Kif13a	T	C	13: 46,929,612	T4A	possibly damaging	Het
Kif3b	T	C	2: 153,330,153	*748Q	probably null	Het
Klf8	C	T	X: 153,384,681	Q241*	probably null	Het
Kras	A	T	6: 145,225,061		probably benign	Het
Lamc3	C	A	2: 31,887,411	T23K	probably benign	Het
Lrrc74b	T	A	16: 17,559,873	H47L	probably benign	Het
Ly75	A	G	2: 60,368,757		probably null	Het
Map3k21	G	A	8: 125,942,137	G821S	probably benign	Het
Mettl14	A	G	3: 123,374,073		probably benign	Het
Mettl5	T	C	2: 69,885,246		probably benign	Het
Mier3	A	G	13: 111,711,755	D301G	probably damaging	Het
Mipep	T	C	14: 60,788,146		probably benign	Het
Mmp21	T	C	7: 133,675,859		probably null	Het
Muc5b	T	C	7: 141,859,080	V1921A	unknown	Het
Myo1e	G	A	9: 70,338,756	E410K	possibly damaging	Het
Nav2	T	G	7: 49,535,962	I951S	probably damaging	Het
Npc1	G	A	18: 12,191,830	T1202I	probably damaging	Het
Olfr1441	C	T	19: 12,422,888	T193I	probably benign	Het
Olfr218	A	G	1: 173,203,367	K4E	probably benign	Het
Olfr324	A	G	11: 58,598,121	R242G	probably damaging	Het
Patl2	C	T	2: 122,123,735	V452M	probably benign	Het
Pcdh18	A	G	3: 49,755,405	V487A	probably damaging	Het
Pdzph1	C	T	17: 58,932,445	A963T	probably damaging	Het
Pkd1l1	C	T	11: 8,916,302	V518M	probably damaging	Het
Plcd3	A	G	11: 103,078,373	F256S	probably damaging	Het
Proc	T	C	18: 32,133,438	D112G	possibly damaging	Het
Ptges2	T	A	2: 32,400,862		probably null	Het
Pth2r	A	T	1: 65,363,277	R312W	probably damaging	Het
Rbbp6	C	T	7: 122,992,453	H546Y	possibly damaging	Het
Retreg2	A	G	1: 75,146,520	E364G	probably damaging	Het
Rxrb	G	A	17: 34,034,160	C185Y	probably damaging	Het
Sept2	T	A	1: 93,499,315	N133K	possibly damaging	Het
Serpina3b	T	A	12: 104,138,710	S382T	probably benign	Het
Serpinb9e	T	C	13: 33,255,116	F175S	probably benign	Het
Slc19a2	C	T	1: 164,257,197	H219Y	probably damaging	Het
Slfn9	A	T	11: 82,981,698	D737E	possibly damaging	Het
Snx31	T	C	15: 36,539,298	E144G	probably null	Het
Sp2	A	G	11: 96,963,456		probably benign	Het
Spag9	C	T	11: 94,116,837	L1117F	probably damaging	Het
Syndig1l	A	T	12: 84,680,363		probably benign	Het
Sypl	A	T	12: 32,974,333		probably benign	Het
Tmem169	T	C	1: 72,300,696	M95T	probably benign	Het
Tmem206	T	C	1: 191,328,289		probably benign	Het
Tnfrsf17	A	G	16: 11,315,202	Y48C	possibly damaging	Het
Ttn	A	T	2: 76,827,515		probably benign	Het
Uap1	G	C	1: 170,150,383	H366Q	probably benign	Het
Ulbp1	A	G	10: 7,446,557		probably benign	Het
Urb2	T	C	8: 124,030,908	V1118A	probably benign	Het
Usp54	T	C	14: 20,550,190	N1493S	probably benign	Het
Vmn1r129	C	A	7: 21,360,730	V188F	probably benign	Het
Vmn1r226	A	T	17: 20,687,732	L75F	probably benign	Het
Wdr78	T	A	4: 103,087,418	L245F	possibly damaging	Het
Wisp1	T	A	15: 66,919,271	N307K	possibly damaging	Het
Yes1	T	A	5: 32,651,702	S137R	probably benign	Het
Zfp804b	A	G	5: 7,179,372		probably benign	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
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
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'- ACAAGTTTTCTTTGATTCCCAGCACCA -3'
(R):5'- GTGAACAGTGTTAGTCCCTGCCTTT -3'

Sequencing Primer
(F):5'- CATAGTAGGTGACCATTCTGAGG -3'
(R):5'- AGTGTTAGTCCCTGCCTTTAAAAC -3'

Posted On

2014-03-14