Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03227:Msh3'

414129

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 #

IGL03227

Quality Score

Status

Chromosome

Chromosomal Location

92348387-92491515 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92422468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 563 (S563T)

Ref Sequence

ENSEMBL: ENSMUSP00000140002 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022220
AA Change: S563T

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022220
Gene: ENSMUSG00000014850
AA Change: S563T

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

probably damaging
Transcript: ENSMUST00000185852
AA Change: S563T

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140002
Gene: ENSMUSG00000014850
AA Change: S563T

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	C	T	1: 25,586,556 (GRCm39)	G172E	probably damaging	Het
Alas2	A	G	X: 149,340,262 (GRCm39)	K151E	probably damaging	Het
Apob	A	G	12: 8,066,089 (GRCm39)	T4353A	probably benign	Het
Arhgef1	C	A	7: 24,622,276 (GRCm39)	D554E	probably damaging	Het
Atad2b	T	A	12: 5,056,715 (GRCm39)	L857Q	probably damaging	Het
Atp2b4	C	A	1: 133,657,445 (GRCm39)		probably benign	Het
Bche	C	A	3: 73,608,945 (GRCm39)	K160N	probably damaging	Het
Bmx	A	G	X: 162,986,192 (GRCm39)	M537T	probably damaging	Het
Bysl	T	C	17: 47,922,017 (GRCm39)	N27S	probably benign	Het
Ccdc110	T	A	8: 46,394,586 (GRCm39)	L159H	probably damaging	Het
Cd34	G	A	1: 194,640,771 (GRCm39)	C212Y	probably damaging	Het
Erich2	C	T	2: 70,343,114 (GRCm39)		probably benign	Het
Fap	T	A	2: 62,361,107 (GRCm39)		probably null	Het
Fitm2	T	C	2: 163,311,452 (GRCm39)	T254A	probably benign	Het
Fscn3	T	C	6: 28,434,429 (GRCm39)	S335P	probably benign	Het
Grk2	C	T	19: 4,337,857 (GRCm39)	E508K	probably benign	Het
Lbr	T	C	1: 181,663,620 (GRCm39)		probably null	Het
Lct	A	T	1: 128,255,426 (GRCm39)	F205L	probably benign	Het
Magi3	A	T	3: 103,958,435 (GRCm39)	I550N	probably benign	Het
Med13	A	G	11: 86,218,618 (GRCm39)		probably benign	Het
Msra	A	G	14: 64,551,192 (GRCm39)	V50A	probably benign	Het
Or7g25	A	G	9: 19,160,518 (GRCm39)	M59T	probably damaging	Het
Pcdhb13	T	A	18: 37,576,711 (GRCm39)	V363E	probably damaging	Het
Piezo2	G	A	18: 63,257,677 (GRCm39)	T347M	probably damaging	Het
Rapgef2	T	C	3: 78,999,920 (GRCm39)		probably benign	Het
Rtl9	A	C	X: 141,882,824 (GRCm39)	T79P	probably benign	Het
Slc15a2	A	G	16: 36,576,410 (GRCm39)		probably null	Het
Slc51a	G	A	16: 32,297,568 (GRCm39)	R110C	probably damaging	Het
Smurf1	G	T	5: 144,835,992 (GRCm39)	P123H	probably damaging	Het
Strn4	A	G	7: 16,571,639 (GRCm39)	T590A	possibly damaging	Het
Trpm6	T	C	19: 18,796,483 (GRCm39)	S780P	probably benign	Het
Trpm6	T	C	19: 18,764,143 (GRCm39)	Y250H	probably benign	Het
Zfp770	A	T	2: 114,027,570 (GRCm39)	C166*	probably null	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
IGL01490:Msh3	APN	13	92,436,813 (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
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

2016-08-02