Mutagenetix > Incidental Mutation

Incidental Mutation 'R0632:Msh4'

59689

Institutional Source

Beutler Lab

Gene Symbol

Msh4

Ensembl Gene

ENSMUSG00000005493

Gene Name

mutS homolog 4

Synonyms

mMsh4, 4930485C04Rik

MMRRC Submission

038821-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.562) question?

Stock #

R0632 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153562783-153611495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 153602532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 232 (I232T)

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: I232T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493
AA Change: I232T

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: I144T

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

SMART Domains

Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493
AA Change: I144T

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: I38T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493
AA Change: I38T

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

0.5961

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

95% (81/85)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1a	T	A	9: 119,176,884 (GRCm39)		probably benign	Het
Adgrg7	T	A	16: 56,562,952 (GRCm39)	T462S	possibly damaging	Het
Akap6	A	T	12: 52,983,931 (GRCm39)	N825I	probably damaging	Het
Ankib1	T	A	5: 3,822,529 (GRCm39)	N59I	probably benign	Het
Anks6	T	C	4: 47,033,167 (GRCm39)	S633G	possibly damaging	Het
Ap4e1	C	A	2: 126,891,200 (GRCm39)	Y522*	probably null	Het
Art5	G	A	7: 101,747,164 (GRCm39)	T205I	probably damaging	Het
Ascc2	T	A	11: 4,599,855 (GRCm39)	L176H	probably damaging	Het
Atp13a5	T	C	16: 29,117,026 (GRCm39)	D529G	probably benign	Het
C2cd4a	T	C	9: 67,738,845 (GRCm39)	E66G	probably benign	Het
C8a	T	C	4: 104,713,689 (GRCm39)	D147G	probably damaging	Het
Ccdc14	T	C	16: 34,542,019 (GRCm39)	V532A	possibly damaging	Het
Ccdc88a	T	A	11: 29,432,749 (GRCm39)		probably benign	Het
Cfap54	C	T	10: 92,720,958 (GRCm39)	E2543K	unknown	Het
Cldn13	C	T	5: 134,943,601 (GRCm39)	E195K	probably benign	Het
Cp	A	G	3: 20,025,246 (GRCm39)	S402G	probably null	Het
Cpa3	T	C	3: 20,279,358 (GRCm39)	T194A	probably benign	Het
Crygf	C	A	1: 65,967,156 (GRCm39)	Y93*	probably null	Het
Ctsh	A	G	9: 89,943,635 (GRCm39)	R87G	possibly damaging	Het
Cyp2t4	A	G	7: 26,857,671 (GRCm39)	D428G	possibly damaging	Het
Dnah17	C	G	11: 117,958,508 (GRCm39)		probably benign	Het
Dnah3	A	G	7: 119,567,128 (GRCm39)	V2366A	probably benign	Het
Dscaml1	A	T	9: 45,643,432 (GRCm39)	I1284F	probably benign	Het
Dsg1c	T	C	18: 20,405,403 (GRCm39)		probably benign	Het
Dst	G	T	1: 34,310,494 (GRCm39)	R4098L	probably damaging	Het
Efhb	A	G	17: 53,720,487 (GRCm39)		probably benign	Het
Epha7	A	T	4: 28,821,104 (GRCm39)	I90F	probably damaging	Het
Fam171a2	T	A	11: 102,328,707 (GRCm39)	D684V	probably damaging	Het
Fan1	A	G	7: 64,012,947 (GRCm39)	V665A	possibly damaging	Het
Fbn2	A	G	18: 58,170,819 (GRCm39)	C2191R	probably damaging	Het
Fkbp3	G	A	12: 65,120,692 (GRCm39)	A2V	probably benign	Het
G6pd2	A	G	5: 61,967,514 (GRCm39)	N430D	probably benign	Het
Gm13547	T	A	2: 29,651,596 (GRCm39)	D7E	possibly damaging	Het
H4c9	G	T	13: 22,225,197 (GRCm39)	Y99*	probably null	Het
Hdac5	A	T	11: 102,096,638 (GRCm39)	D260E	probably damaging	Het
Hsf2bp	T	C	17: 32,232,320 (GRCm39)	E142G	probably damaging	Het
Igf1r	C	T	7: 67,814,903 (GRCm39)	T268I	probably damaging	Het
Inava	T	C	1: 136,155,356 (GRCm39)	D83G	probably benign	Het
Kcne3	C	T	7: 99,833,646 (GRCm39)	R88C	probably damaging	Het
Klk1b9	G	T	7: 43,628,796 (GRCm39)	G100V	possibly damaging	Het
Kmt2d	G	A	15: 98,751,462 (GRCm39)		probably benign	Het
Lama1	C	T	17: 68,059,363 (GRCm39)		probably benign	Het
Lcp2	C	T	11: 34,032,426 (GRCm39)	P335S	possibly damaging	Het
Lrrk2	T	A	15: 91,680,231 (GRCm39)	N2047K	probably damaging	Het
Mcub	T	C	3: 129,712,375 (GRCm39)	M167V	probably benign	Het
Mia2	T	C	12: 59,182,929 (GRCm39)	L36P	probably damaging	Het
Mmp13	G	A	9: 7,274,032 (GRCm39)	G169R	probably damaging	Het
Mmp13	A	T	9: 7,282,077 (GRCm39)	I460F	possibly damaging	Het
Msra	T	A	14: 64,447,981 (GRCm39)	M145L	probably benign	Het
Myo7a	A	T	7: 97,761,357 (GRCm39)		probably benign	Het
Nme8	A	T	13: 19,842,206 (GRCm39)	N422K	probably damaging	Het
Nol6	A	T	4: 41,121,115 (GRCm39)	F353I	probably damaging	Het
Nphp3	A	G	9: 103,895,473 (GRCm39)	K384E	probably damaging	Het
Or51h5	C	T	7: 102,577,811 (GRCm39)		probably null	Het
Or52e15	A	G	7: 104,645,910 (GRCm39)	I67T	probably benign	Het
Or52h7	A	G	7: 104,213,544 (GRCm39)	I39V	probably benign	Het
Phox2b	T	G	5: 67,253,557 (GRCm39)		probably benign	Het
Plec	A	T	15: 76,057,611 (GRCm39)	S4131T	probably damaging	Het
Pptc7	G	A	5: 122,451,654 (GRCm39)		probably benign	Het
Pramel31	G	A	4: 144,090,352 (GRCm39)	C464Y	probably damaging	Het
Prpf40b	A	G	15: 99,214,170 (GRCm39)	E810G	probably benign	Het
Ptprc	C	T	1: 138,001,348 (GRCm39)	V965I	probably benign	Het
Pum1	T	A	4: 130,455,415 (GRCm39)	M180K	probably benign	Het
Ranbp3	T	C	17: 57,009,896 (GRCm39)		probably benign	Het
Rasgrf2	A	G	13: 92,120,393 (GRCm39)	S787P	probably benign	Het
Rnf19b	T	A	4: 128,967,344 (GRCm39)	N294K	probably damaging	Het
Samd3	A	T	10: 26,120,393 (GRCm39)	H156L	possibly damaging	Het
Serpinb6c	C	T	13: 34,064,014 (GRCm39)	R347Q	possibly damaging	Het
Slc36a3	A	G	11: 55,015,906 (GRCm39)	I416T	probably damaging	Het
Slc4a4	T	A	5: 89,277,500 (GRCm39)	F279Y	probably damaging	Het
Slc6a2	T	A	8: 93,719,429 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Tab2	A	G	10: 7,795,565 (GRCm39)	S232P	probably benign	Het
Tacc2	A	T	7: 130,227,325 (GRCm39)	K1356*	probably null	Het
Tmem87a	A	G	2: 120,190,023 (GRCm39)	S544P	probably damaging	Het
Trim52	T	A	14: 106,344,401 (GRCm39)	C20S	probably damaging	Het
Usp38	A	T	8: 81,740,779 (GRCm39)	V96E	probably benign	Het
Vmn2r59	T	C	7: 41,708,308 (GRCm39)	Y33C	probably damaging	Het
Vsig10l	T	G	7: 43,113,561 (GRCm39)	V171G	probably damaging	Het
Zfp957	T	A	14: 79,450,360 (GRCm39)	I480F	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
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

Predicted Primers

PCR Primer
(F):5'- CAGACCAAGAGTACCCTGCCTCAT -3'
(R):5'- AAGCCCACAGATTATGTTGTCACAGTT -3'

Sequencing Primer
(F):5'- atctgcctgcctctgcc -3'
(R):5'- CAAAGGTAAGCTGTTTTTGCAAC -3'

Posted On

2013-07-11