Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02243:Met'

286065

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Met

Ensembl Gene

ENSMUSG00000009376

Gene Name

met proto-oncogene

Synonyms

Par4, HGF receptor, c-Met

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02243

Quality Score

Status

Chromosome

Chromosomal Location

17463800-17573980 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 17549094 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 982 (V982I)

Ref Sequence

ENSEMBL: ENSMUSP00000111103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080469] [ENSMUST00000115442] [ENSMUST00000115443]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000080469
AA Change: V982I

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

SMART Domains

Protein: ENSMUSP00000079324
Gene: ENSMUSG00000009376
AA Change: V982I

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Sema	52	495	4.5e-134	SMART
PSI	518	561	1.18e-9	SMART
IPT	561	654	9.43e-15	SMART
IPT	655	738	4.16e-25	SMART
IPT	740	835	3.38e-16	SMART
IPT	837	933	4.08e-10	SMART
TyrKc	1076	1335	7.65e-134	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115442
AA Change: V982I

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

SMART Domains

Protein: ENSMUSP00000111102
Gene: ENSMUSG00000009376
AA Change: V982I

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Sema	52	495	4.5e-134	SMART
PSI	518	561	1.18e-9	SMART
IPT	561	654	9.43e-15	SMART
IPT	655	738	4.16e-25	SMART
IPT	740	835	3.38e-16	SMART
IPT	837	933	4.08e-10	SMART
TyrKc	1076	1335	7.65e-134	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115443
AA Change: V982I

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

SMART Domains

Protein: ENSMUSP00000111103
Gene: ENSMUSG00000009376
AA Change: V982I

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Sema	52	495	4.5e-134	SMART
PSI	518	561	1.18e-9	SMART
IPT	561	654	9.43e-15	SMART
IPT	655	738	4.16e-25	SMART
IPT	740	835	3.38e-16	SMART
IPT	837	933	4.08e-10	SMART
TyrKc	1076	1335	7.65e-134	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148903

SMART Domains

Protein: ENSMUSP00000121923
Gene: ENSMUSG00000009376

Domain	Start	End	E-Value	Type
Blast:IPT	2	64	1e-37	BLAST
low complexity region	65	83	N/A	INTRINSIC
PDB:3VW8\|A	108	157	5e-23	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000152802

SMART Domains

Protein: ENSMUSP00000118755
Gene: ENSMUSG00000009376

Domain	Start	End	E-Value	Type
IPT	21	116	3.38e-16	SMART
IPT	118	202	4.34e-5	SMART

Coding Region Coverage

Validation Efficiency

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 receptor tyrosine kinase family of proteins and the product of the proto-oncogene MET. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that are linked via disulfide bonds to form the mature receptor. Further processing of the beta subunit results in the formation of the M10 peptide, which has been shown to reduce lung fibrosis. Binding of its ligand, hepatocyte growth factor, induces dimerization and activation of the receptor, which plays a role in cellular survival, embryogenesis, and cellular migration and invasion. Mutations in this gene are associated with papillary renal cell carcinoma, hepatocellular carcinoma, and various head and neck cancers. Amplification and overexpression of this gene are also associated with multiple human cancers. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous null mutants exhibit impaired embryonic development resulting in death. Abnormalities observed in various mutant lines include muscle agenesis due to impaired migration of myogenic precursors, defects of motor axon migration, and placental andliver defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apc2	A	G	10: 80,302,341	Y87C	probably damaging	Het
Armc3	G	A	2: 19,286,137		probably null	Het
Brsk2	T	C	7: 141,993,299	F493S	probably damaging	Het
Cd19	T	C	7: 126,410,793		probably null	Het
Chd2	T	C	7: 73,497,708		probably null	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Ddx19a	T	G	8: 110,976,456	I450L	probably benign	Het
Edn2	G	A	4: 120,162,032		probably null	Het
Elp2	G	A	18: 24,622,606	R470Q	probably benign	Het
Fhdc1	T	G	3: 84,474,640	M1L	possibly damaging	Het
Gba2	A	T	4: 43,568,719	I619N	probably benign	Het
Glce	A	G	9: 62,070,140	F154S	probably damaging	Het
Gm3476	A	T	14: 6,122,811	C195*	probably null	Het
Hsp90aa1	A	G	12: 110,695,091	S164P	probably damaging	Het
Iqcg	T	C	16: 33,045,592	D127G	probably damaging	Het
Jag2	G	A	12: 112,916,345	T381I	possibly damaging	Het
Krt16	A	T	11: 100,246,336		probably benign	Het
Lhx2	T	A	2: 38,353,519		probably benign	Het
Lrrc2	A	T	9: 110,970,057	N158I	probably damaging	Het
M1ap	C	T	6: 83,026,288	P389S	probably damaging	Het
Maats1	T	C	16: 38,341,780		probably benign	Het
Masp2	A	T	4: 148,603,068	D104V	probably benign	Het
Msh2	T	A	17: 87,678,368		probably benign	Het
Myh9	A	G	15: 77,767,482	L1509P	probably damaging	Het
Mylk2	A	G	2: 152,920,553	H554R	probably damaging	Het
Oxr1	T	G	15: 41,535,701		probably benign	Het
Pdp1	A	T	4: 11,961,873	V146D	probably benign	Het
Pdzrn4	A	T	15: 92,770,696	M910L	probably benign	Het
Prl2a1	T	C	13: 27,807,417		probably benign	Het
Rapgef6	C	T	11: 54,676,400	P1136S	probably damaging	Het
Rasgef1c	A	T	11: 49,957,390	S69C	possibly damaging	Het
Rnaseh1	C	T	12: 28,655,632	R152W	probably damaging	Het
Sele	T	C	1: 164,052,968	V373A	probably benign	Het
Tmem67	G	A	4: 12,070,584	S314L	possibly damaging	Het
Traf4	T	C	11: 78,160,517	E271G	probably benign	Het
Trim39	T	C	17: 36,260,384	D494G	probably damaging	Het
Virma	G	A	4: 11,546,031	R1673Q	probably damaging	Het

Other mutations in Met

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00533:Met	APN	6	17534937	unclassified	probably benign
IGL01066:Met	APN	6	17535105	critical splice donor site	probably null
IGL01344:Met	APN	6	17547032	missense	probably benign	0.44
IGL01413:Met	APN	6	17558896	splice site	probably benign
IGL01608:Met	APN	6	17558730	missense	probably damaging	1.00
IGL01613:Met	APN	6	17540577	missense	probably damaging	1.00
IGL01820:Met	APN	6	17534231	missense	possibly damaging	0.89
IGL01843:Met	APN	6	17491701	missense	probably damaging	1.00
IGL02014:Met	APN	6	17527257	splice site	probably benign
IGL02027:Met	APN	6	17563727	splice site	probably benign
IGL02373:Met	APN	6	17491529	missense	probably damaging	1.00
IGL02616:Met	APN	6	17553347	missense	probably damaging	1.00
IGL02702:Met	APN	6	17534143	missense	possibly damaging	0.92
IGL02704:Met	APN	6	17491257	missense	possibly damaging	0.62
IGL02714:Met	APN	6	17491852	nonsense	probably null
IGL02936:Met	APN	6	17553397	missense	probably damaging	1.00
IGL02943:Met	APN	6	17535929	missense	possibly damaging	0.84
IGL03057:Met	APN	6	17558766	missense	probably damaging	1.00
IGL03124:Met	APN	6	17492078	missense	probably benign	0.27
IGL03171:Met	APN	6	17562273	splice site	probably benign
IGL03266:Met	APN	6	17540538	missense	possibly damaging	0.61
IGL03285:Met	APN	6	17553337	missense	probably damaging	0.98
R0453:Met	UTSW	6	17534198	missense	possibly damaging	0.88
R0543:Met	UTSW	6	17491970	missense	probably damaging	1.00
R0601:Met	UTSW	6	17555632	splice site	probably null
R0652:Met	UTSW	6	17491710	missense	probably benign	0.00
R0941:Met	UTSW	6	17491394	missense	probably damaging	1.00
R1142:Met	UTSW	6	17527183	nonsense	probably null
R1553:Met	UTSW	6	17491461	missense	probably benign	0.01
R1569:Met	UTSW	6	17531504	nonsense	probably null
R1744:Met	UTSW	6	17540646	missense	possibly damaging	0.47
R2224:Met	UTSW	6	17563722	splice site	probably null
R2308:Met	UTSW	6	17491742	missense	probably benign	0.00
R2369:Met	UTSW	6	17531528	missense	probably benign	0.04
R2393:Met	UTSW	6	17534198	missense	probably damaging	0.99
R2419:Met	UTSW	6	17535830	splice site	probably benign
R2483:Met	UTSW	6	17549086	missense	probably damaging	1.00
R2511:Met	UTSW	6	17491967	missense	probably damaging	1.00
R3622:Met	UTSW	6	17549086	missense	probably damaging	1.00
R3623:Met	UTSW	6	17549086	missense	probably damaging	1.00
R3624:Met	UTSW	6	17549086	missense	probably damaging	1.00
R4050:Met	UTSW	6	17533984	missense	probably benign
R4051:Met	UTSW	6	17548729	missense	possibly damaging	0.86
R4159:Met	UTSW	6	17562272	splice site	probably null
R4208:Met	UTSW	6	17548729	missense	possibly damaging	0.86
R4622:Met	UTSW	6	17513384	missense	probably benign	0.19
R4672:Met	UTSW	6	17571804	missense	probably benign	0.33
R4737:Met	UTSW	6	17491541	missense	probably damaging	1.00
R4738:Met	UTSW	6	17491541	missense	probably damaging	1.00
R4834:Met	UTSW	6	17491413	missense	probably damaging	0.97
R4846:Met	UTSW	6	17491929	missense	probably damaging	0.99
R4855:Met	UTSW	6	17558797	missense	probably damaging	1.00
R4878:Met	UTSW	6	17549059	missense	probably damaging	1.00
R4902:Met	UTSW	6	17546996	missense	probably damaging	1.00
R5208:Met	UTSW	6	17526423	nonsense	probably null
R5355:Met	UTSW	6	17491362	missense	probably damaging	1.00
R5415:Met	UTSW	6	17527085	missense	probably benign	0.01
R5556:Met	UTSW	6	17534176	missense	probably benign	0.04
R5590:Met	UTSW	6	17548782	missense	probably benign	0.00
R5683:Met	UTSW	6	17571744	missense	probably damaging	1.00
R5872:Met	UTSW	6	17562198	missense	probably damaging	1.00
R5891:Met	UTSW	6	17491539	missense	probably benign	0.02
R5895:Met	UTSW	6	17531582	missense	probably benign	0.02
R6063:Met	UTSW	6	17491968	missense	probably damaging	1.00
R6262:Met	UTSW	6	17553404	missense	probably benign	0.00
R6362:Met	UTSW	6	17558733	missense	probably damaging	1.00
R6747:Met	UTSW	6	17571467	missense	probably damaging	1.00
R6966:Met	UTSW	6	17531532	missense	possibly damaging	0.65
R6989:Met	UTSW	6	17535928	missense	possibly damaging	0.67
R6989:Met	UTSW	6	17535929	missense	probably damaging	1.00
R7017:Met	UTSW	6	17491287	nonsense	probably null
R7037:Met	UTSW	6	17547128	intron	probably benign
R7141:Met	UTSW	6	17527155	missense	probably benign	0.01
R7242:Met	UTSW	6	17491317	missense	probably damaging	1.00
R7282:Met	UTSW	6	17547012	nonsense	probably null
R7624:Met	UTSW	6	17558835	missense	probably damaging	1.00
R7770:Met	UTSW	6	17491407	missense	possibly damaging	0.79
R7797:Met	UTSW	6	17533953	missense	probably damaging	1.00
R8082:Met	UTSW	6	17492313	missense	probably damaging	0.98
R8109:Met	UTSW	6	17562237	missense	probably damaging	1.00
R8162:Met	UTSW	6	17547062	missense	probably damaging	0.98
R8315:Met	UTSW	6	17533957	missense	probably damaging	0.99
R8325:Met	UTSW	6	17571672	missense	probably damaging	1.00
R8348:Met	UTSW	6	17571800	missense	probably benign	0.00
R8354:Met	UTSW	6	17491769	missense	probably damaging	1.00
R8448:Met	UTSW	6	17571800	missense	probably benign	0.00
R8454:Met	UTSW	6	17491769	missense	probably damaging	1.00
R8465:Met	UTSW	6	17571810	missense	probably benign	0.04
R8479:Met	UTSW	6	17491747	splice site	probably null
R8737:Met	UTSW	6	17540511	missense	probably benign	0.00
R8903:Met	UTSW	6	17549138	missense	probably benign	0.19
R8964:Met	UTSW	6	17527145	missense	probably damaging	1.00
R8998:Met	UTSW	6	17491535	missense	probably benign	0.43
R9088:Met	UTSW	6	17548716	nonsense	probably null
R9369:Met	UTSW	6	17492229	missense	probably benign
R9394:Met	UTSW	6	17513396	missense	probably damaging	1.00
R9530:Met	UTSW	6	17558832	missense	probably damaging	1.00
R9564:Met	UTSW	6	17531426	missense	probably benign
R9759:Met	UTSW	6	17555562	missense	probably damaging	1.00

Posted On

2015-04-16