Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00895:Msh3'

28817

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 #

IGL00895

Quality Score

Status

Chromosome

Chromosomal Location

92348387-92491515 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 92481472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 347 (G347C)

Ref Sequence

ENSEMBL: ENSMUSP00000140002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022220] [ENSMUST00000185852] [ENSMUST00000187874] [ENSMUST00000190393] [ENSMUST00000191550] [ENSMUST00000191509]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000022220
AA Change: G347C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022220
Gene: ENSMUSG00000014850
AA Change: G347C

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: G347C

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

SMART Domains

Protein: ENSMUSP00000140002
Gene: ENSMUSG00000014850
AA Change: G347C

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

noncoding transcript
Transcript: ENSMUST00000186878

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187831

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

noncoding transcript
Transcript: ENSMUST00000189376

Predicted Effect

probably benign
Transcript: ENSMUST00000190393

SMART Domains

Protein: ENSMUSP00000141163
Gene: ENSMUSG00000014850

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	241	6.4e-10	PFAM
low complexity region	261	285	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

Predicted Effect

probably benign
Transcript: ENSMUST00000191509

SMART Domains

Protein: ENSMUSP00000141158
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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl6ip6	T	A	2: 53,092,936 (GRCm39)	W154R	probably damaging	Het
Ccnc	T	A	4: 21,742,642 (GRCm39)	Y156*	probably null	Het
Clca3a1	A	C	3: 144,730,357 (GRCm39)	W163G	probably damaging	Het
Cntnap5b	C	T	1: 100,311,310 (GRCm39)	T972I	probably damaging	Het
Cpn2	C	T	16: 30,079,338 (GRCm39)	S121N	probably benign	Het
Dcc	T	C	18: 71,943,871 (GRCm39)	E260G	probably damaging	Het
Dnah6	A	T	6: 73,133,333 (GRCm39)	N1091K	possibly damaging	Het
Dpp9	G	T	17: 56,512,240 (GRCm39)	F249L	probably damaging	Het
Dscaml1	A	G	9: 45,662,551 (GRCm39)	D1839G	probably damaging	Het
Esr1	C	T	10: 4,997,890 (GRCm38)	R481L	probably benign	Het
Frem2	G	T	3: 53,493,016 (GRCm39)	D1833E	probably damaging	Het
Ftdc2	A	T	16: 58,458,059 (GRCm39)	Y81N	probably benign	Het
Ica1	T	C	6: 8,653,514 (GRCm39)	D343G	probably benign	Het
Il27	T	C	7: 126,188,555 (GRCm39)	H206R	probably benign	Het
Med14	A	G	X: 12,547,039 (GRCm39)	V723A	probably damaging	Het
Nfasc	T	A	1: 132,501,536 (GRCm39)	K1262*	probably null	Het
Nlrp9a	A	T	7: 26,258,103 (GRCm39)	M485L	probably benign	Het
Or4c111	A	G	2: 88,843,953 (GRCm39)	F152L	probably benign	Het
Or4f60	A	G	2: 111,902,100 (GRCm39)	V276A	probably damaging	Het
Pcdhb5	T	G	18: 37,454,036 (GRCm39)	L139V	probably benign	Het
Rbfox1	A	T	16: 7,187,698 (GRCm39)	K43N	probably benign	Het
Scn5a	G	T	9: 119,342,170 (GRCm39)		probably null	Het
Senp7	G	T	16: 55,902,740 (GRCm39)	R21L	probably damaging	Het
Ssb	G	A	2: 69,696,606 (GRCm39)	V47I	probably benign	Het
Ttll8	T	A	15: 88,817,731 (GRCm39)	S221C	probably damaging	Het

Other mutations in Msh3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-04-17