Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03171:Met'

411857

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03171

Quality Score

Status

Chromosome

Chromosomal Location

17463800-17573980 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 17562273 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111103 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000080469

SMART Domains

Protein: ENSMUSP00000079324
Gene: ENSMUSG00000009376

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: ENSMUST00000115442

SMART Domains

Protein: ENSMUSP00000111102
Gene: ENSMUSG00000009376

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: ENSMUST00000115443

SMART Domains

Protein: ENSMUSP00000111103
Gene: ENSMUSG00000009376

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	A	6: 83,162,395	F434Y	possibly damaging	Het
Adam19	G	T	11: 46,138,854	A709S	probably damaging	Het
Adgrf3	A	T	5: 30,196,294	L42Q	probably damaging	Het
D430041D05Rik	T	C	2: 104,241,163	N1264S	possibly damaging	Het
Dnah9	T	G	11: 65,981,241	K2721T	probably benign	Het
Efr3b	C	T	12: 3,968,622	A575T	probably benign	Het
Esco1	T	C	18: 10,594,263	E341G	probably damaging	Het
Ezh2	G	A	6: 47,540,781	R574*	probably null	Het
Fam169a	G	T	13: 97,110,014		probably benign	Het
Fry	T	C	5: 150,380,809	Y555H	probably damaging	Het
Gm17175	A	C	14: 51,571,608	S100R	probably damaging	Het
Gm4778	C	A	3: 94,266,455	H257N	probably benign	Het
Gm527	T	C	12: 64,921,157	Y118H	probably damaging	Het
Gm8765	T	A	13: 50,702,352	S675R	probably benign	Het
H2-M10.4	G	T	17: 36,461,250	T202N	probably damaging	Het
Igf1	A	T	10: 87,864,821	T36S	probably damaging	Het
Ints8	C	T	4: 11,231,702	V428I	probably benign	Het
Itga6	G	A	2: 71,841,329		probably null	Het
Jmjd1c	A	G	10: 67,225,498	E1210G	possibly damaging	Het
Kdm2a	A	T	19: 4,356,764	V134E	probably damaging	Het
Limch1	C	A	5: 67,034,194	N947K	possibly damaging	Het
Neb	A	G	2: 52,216,364		probably benign	Het
Ogg1	A	G	6: 113,333,414	I274V	possibly damaging	Het
Ola1	A	T	2: 73,156,853	I145K	probably benign	Het
Olfr458	G	A	6: 42,460,530	T163I	possibly damaging	Het
Pacrg	A	G	17: 10,576,533	V166A	possibly damaging	Het
Pira2	T	A	7: 3,842,605	E260V	probably damaging	Het
Prickle3	T	C	X: 7,665,287	C277R	probably damaging	Het
Psen1	A	G	12: 83,714,864	T147A	probably damaging	Het
Pxk	C	T	14: 8,151,014		probably benign	Het
Scn11a	G	A	9: 119,819,847	P50L	probably benign	Het
Scn4a	C	A	11: 106,345,592	V281L	probably benign	Het
Shcbp1	A	G	8: 4,739,166	I551T	probably benign	Het
Snx13	T	A	12: 35,100,540	I281N	probably benign	Het
Tdo2	T	C	3: 81,967,029	K209E	probably benign	Het
Trip6	C	T	5: 137,312,884	R190Q	probably benign	Het
Ttc30a1	C	T	2: 75,980,507	A411T	probably benign	Het
Ubqln1	T	A	13: 58,180,858	E426D	probably damaging	Het
Zfp607b	C	A	7: 27,693,595	N49K	possibly 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
IGL02243:Met	APN	6	17549094	missense	probably damaging	1.00
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
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

Posted On

2016-08-02