Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01490:Msh3'

88812

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Msh3

Ensembl Gene

ENSMUSG00000014850

Gene Name

mutS homolog 3

Synonyms

Rep3, D13Em1, Rep-3

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.285) question?

Stock #

IGL01490

Quality Score

Status

Chromosome

Chromosomal Location

92348387-92491515 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 92436813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 499 (T499M)

Ref Sequence

ENSEMBL: ENSMUSP00000022220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022220] [ENSMUST00000185852] [ENSMUST00000187874] [ENSMUST00000191550]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000022220
AA Change: T499M

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

SMART Domains

Protein: ENSMUSP00000022220
Gene: ENSMUSG00000014850
AA Change: T499M

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
low complexity region	24	40	N/A	INTRINSIC
Pfam:MutS_I	188	301	1.6e-35	PFAM
Pfam:MutS_II	324	481	2.2e-36	PFAM
MUTSd	513	828	7.62e-97	SMART
MUTSac	847	1049	9.7e-122	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185852
AA Change: T499M

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140002
Gene: ENSMUSG00000014850
AA Change: T499M

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
low complexity region	24	40	N/A	INTRINSIC
Pfam:MutS_I	188	301	7.2e-35	PFAM
Pfam:MutS_II	324	481	2.2e-36	PFAM
MUTSd	513	828	7.62e-97	SMART
MUTSac	847	1049	9.7e-122	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000187874

SMART Domains

Protein: ENSMUSP00000139620
Gene: ENSMUSG00000014850

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
low complexity region	24	40	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191550

SMART Domains

Protein: ENSMUSP00000140659
Gene: ENSMUSG00000014850

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC
low complexity region	24	40	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. The repeat is present 6 times in the reference genome sequence and 3-7 repeats have been reported. Defects in this gene are a cause of susceptibility to endometrial cancer. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a partial defect mismatch repair and development of intestinal tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,336,023 (GRCm39)	Y2131C	probably damaging	Het
Ano6	T	A	15: 95,846,291 (GRCm39)	S510T	probably benign	Het
Asb16	A	T	11: 102,167,575 (GRCm39)	N314Y	probably damaging	Het
Atp6v0b	G	A	4: 117,742,303 (GRCm39)	Q150*	probably null	Het
Chct1	A	G	11: 85,069,138 (GRCm39)	D52G	probably damaging	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Cmklr2	T	C	1: 63,222,455 (GRCm39)	Y260C	probably damaging	Het
Crim1	A	G	17: 78,642,725 (GRCm39)	D481G	possibly damaging	Het
Dnajb2	T	C	1: 75,213,534 (GRCm39)	S3P	probably damaging	Het
Dnajb9	A	T	12: 44,253,869 (GRCm39)	S179R	possibly damaging	Het
Dock2	A	T	11: 34,596,608 (GRCm39)	I416N	probably damaging	Het
Dock7	G	T	4: 98,833,355 (GRCm39)		probably benign	Het
Eif6	T	C	2: 155,668,102 (GRCm39)	I46V	probably benign	Het
Fcgr1	T	C	3: 96,191,686 (GRCm39)	D374G	probably benign	Het
Gatad2b	A	G	3: 90,259,385 (GRCm39)	I374V	possibly damaging	Het
Gfpt2	T	C	11: 49,717,954 (GRCm39)		probably benign	Het
H2-M10.2	G	T	17: 36,596,377 (GRCm39)	T156K	probably damaging	Het
Il20rb	T	A	9: 100,355,207 (GRCm39)	I79F	probably damaging	Het
Kcnip3	C	T	2: 127,352,799 (GRCm39)	R44H	probably benign	Het
Lama1	A	T	17: 68,057,579 (GRCm39)	D551V	possibly damaging	Het
Mex3b	C	A	7: 82,519,035 (GRCm39)	P450Q	possibly damaging	Het
Mmp20	T	C	9: 7,628,330 (GRCm39)	L26P	probably benign	Het
Myo18b	T	C	5: 112,957,566 (GRCm39)	S1466G	possibly damaging	Het
Myom3	A	G	4: 135,538,089 (GRCm39)	R1324G	possibly damaging	Het
Nxph3	A	G	11: 95,401,919 (GRCm39)	I165T	possibly damaging	Het
Prex2	G	A	1: 11,254,769 (GRCm39)		probably null	Het
Ptpn6	T	A	6: 124,705,307 (GRCm39)	E208V	probably damaging	Het
Qpct	T	C	17: 79,397,169 (GRCm39)	V354A	probably benign	Het
Rfx4	A	G	10: 84,676,715 (GRCm39)	I108V	possibly damaging	Het
Tmem67	A	G	4: 12,057,422 (GRCm39)		probably benign	Het
Trappc12	A	T	12: 28,796,914 (GRCm39)	I206N	probably damaging	Het
Vmn1r173	A	T	7: 23,402,132 (GRCm39)	K122N	probably benign	Het
Wdr35	G	T	12: 9,027,381 (GRCm39)	G54V	probably damaging	Het
Zfyve26	A	T	12: 79,291,147 (GRCm39)	C2153S	probably damaging	Het

Other mutations in Msh3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00895:Msh3	APN	13	92,481,472 (GRCm39)	missense	probably damaging	1.00
IGL00983:Msh3	APN	13	92,436,785 (GRCm39)	missense	probably damaging	1.00
IGL02072:Msh3	APN	13	92,436,803 (GRCm39)	missense	probably damaging	1.00
IGL02313:Msh3	APN	13	92,485,820 (GRCm39)	missense	possibly damaging	0.86
IGL02711:Msh3	APN	13	92,487,819 (GRCm39)	missense	probably damaging	1.00
IGL03108:Msh3	APN	13	92,357,596 (GRCm39)	splice site	probably benign
IGL03227:Msh3	APN	13	92,422,468 (GRCm39)	missense	probably damaging	0.98
R0164:Msh3	UTSW	13	92,485,717 (GRCm39)	missense	probably damaging	1.00
R0164:Msh3	UTSW	13	92,485,717 (GRCm39)	missense	probably damaging	1.00
R0415:Msh3	UTSW	13	92,483,294 (GRCm39)	missense	possibly damaging	0.89
R0457:Msh3	UTSW	13	92,357,505 (GRCm39)	missense	probably damaging	1.00
R0659:Msh3	UTSW	13	92,481,604 (GRCm39)	missense	possibly damaging	0.80
R0661:Msh3	UTSW	13	92,481,604 (GRCm39)	missense	possibly damaging	0.80
R0686:Msh3	UTSW	13	92,487,939 (GRCm39)	missense	possibly damaging	0.53
R0688:Msh3	UTSW	13	92,487,939 (GRCm39)	missense	possibly damaging	0.53
R0707:Msh3	UTSW	13	92,483,848 (GRCm39)	nonsense	probably null
R1605:Msh3	UTSW	13	92,436,783 (GRCm39)	missense	probably null	1.00
R1622:Msh3	UTSW	13	92,481,462 (GRCm39)	critical splice donor site	probably null
R1771:Msh3	UTSW	13	92,349,004 (GRCm39)	missense	probably benign	0.05
R1970:Msh3	UTSW	13	92,386,328 (GRCm39)	splice site	probably benign
R1971:Msh3	UTSW	13	92,386,328 (GRCm39)	splice site	probably benign
R1971:Msh3	UTSW	13	92,359,784 (GRCm39)	missense	probably damaging	1.00
R2894:Msh3	UTSW	13	92,478,868 (GRCm39)	missense	probably benign	0.16
R3837:Msh3	UTSW	13	92,491,366 (GRCm39)	missense	probably damaging	1.00
R4119:Msh3	UTSW	13	92,490,519 (GRCm39)	intron	probably benign
R4225:Msh3	UTSW	13	92,422,431 (GRCm39)	missense	probably benign	0.03
R4881:Msh3	UTSW	13	92,402,549 (GRCm39)	intron	probably benign
R5118:Msh3	UTSW	13	92,445,942 (GRCm39)	splice site	probably benign
R5209:Msh3	UTSW	13	92,481,462 (GRCm39)	critical splice donor site	probably null
R5817:Msh3	UTSW	13	92,422,508 (GRCm39)	missense	possibly damaging	0.86
R5849:Msh3	UTSW	13	92,386,386 (GRCm39)	missense	possibly damaging	0.81
R5851:Msh3	UTSW	13	92,352,030 (GRCm39)	missense	probably benign	0.00
R5940:Msh3	UTSW	13	92,386,351 (GRCm39)	missense	probably damaging	1.00
R6004:Msh3	UTSW	13	92,478,922 (GRCm39)	critical splice acceptor site	probably null
R6363:Msh3	UTSW	13	92,349,032 (GRCm39)	missense	probably damaging	1.00
R6510:Msh3	UTSW	13	92,489,772 (GRCm39)	nonsense	probably null
R6654:Msh3	UTSW	13	92,481,550 (GRCm39)	missense	probably benign	0.01
R6853:Msh3	UTSW	13	92,449,080 (GRCm39)	critical splice donor site	probably null
R7022:Msh3	UTSW	13	92,372,096 (GRCm39)	missense	probably damaging	1.00
R7098:Msh3	UTSW	13	92,410,619 (GRCm39)	missense	possibly damaging	0.95
R7103:Msh3	UTSW	13	92,411,308 (GRCm39)	missense	probably benign
R7148:Msh3	UTSW	13	92,491,330 (GRCm39)	missense	probably benign	0.18
R7171:Msh3	UTSW	13	92,485,806 (GRCm39)	missense	probably benign	0.00
R7317:Msh3	UTSW	13	92,422,512 (GRCm39)	missense	probably damaging	1.00
R7369:Msh3	UTSW	13	92,435,770 (GRCm39)	missense	probably benign	0.15
R7586:Msh3	UTSW	13	92,485,840 (GRCm39)	utr 3 prime	probably benign
R7641:Msh3	UTSW	13	92,349,011 (GRCm39)	missense	probably benign	0.08
R7648:Msh3	UTSW	13	92,410,536 (GRCm39)	missense	probably damaging	1.00
R7674:Msh3	UTSW	13	92,349,011 (GRCm39)	missense	probably benign	0.08
R8125:Msh3	UTSW	13	92,435,690 (GRCm39)	missense	probably benign
R8252:Msh3	UTSW	13	92,357,569 (GRCm39)	missense	probably damaging	1.00
R8388:Msh3	UTSW	13	92,359,784 (GRCm39)	missense	probably damaging	1.00
R8442:Msh3	UTSW	13	92,349,020 (GRCm39)	missense	probably benign	0.00
R8735:Msh3	UTSW	13	92,411,374 (GRCm39)	missense	possibly damaging	0.94
R8986:Msh3	UTSW	13	92,483,334 (GRCm39)	missense	probably damaging	1.00
R9264:Msh3	UTSW	13	92,485,812 (GRCm39)	missense	probably benign	0.00
R9326:Msh3	UTSW	13	92,400,307 (GRCm39)	missense	probably benign	0.15
R9457:Msh3	UTSW	13	92,481,594 (GRCm39)	missense	probably benign	0.04
R9459:Msh3	UTSW	13	92,352,047 (GRCm39)	missense	possibly damaging	0.91
R9648:Msh3	UTSW	13	92,478,757 (GRCm39)	missense	probably benign	0.00
S24628:Msh3	UTSW	13	92,483,294 (GRCm39)	missense	possibly damaging	0.89
X0027:Msh3	UTSW	13	92,410,578 (GRCm39)	missense	probably damaging	0.98
X0063:Msh3	UTSW	13	92,411,293 (GRCm39)	nonsense	probably null

Posted On

2013-11-18