Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01843:Met'

178083

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 #

IGL01843

Quality Score

Status

Chromosome

Chromosomal Location

17463800-17573980 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17491701 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 154 (I154N)

Ref Sequence

ENSEMBL: ENSMUSP00000117856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080469] [ENSMUST00000115442] [ENSMUST00000115443] [ENSMUST00000140070]

Predicted Effect

probably damaging
Transcript: ENSMUST00000080469
AA Change: I154N

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

SMART Domains

Protein: ENSMUSP00000079324
Gene: ENSMUSG00000009376
AA Change: I154N

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: I154N

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

SMART Domains

Protein: ENSMUSP00000111102
Gene: ENSMUSG00000009376
AA Change: I154N

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: I154N

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

SMART Domains

Protein: ENSMUSP00000111103
Gene: ENSMUSG00000009376
AA Change: I154N

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: ENSMUST00000140070
AA Change: I154N

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

SMART Domains

Protein: ENSMUSP00000117856
Gene: ENSMUSG00000009376
AA Change: I154N

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Sema	52	169	4.8e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145473

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,553,338		probably benign	Het
Ap1b1	T	C	11: 5,039,169	L782P	probably damaging	Het
Arid1a	T	C	4: 133,681,454	D1914G	unknown	Het
C8a	G	A	4: 104,862,611	Q57*	probably null	Het
Cachd1	T	C	4: 100,992,872	S1144P	probably damaging	Het
Cdh23	A	T	10: 60,419,819		probably null	Het
Cenpe	A	G	3: 135,218,507	Q198R	possibly damaging	Het
Cpne8	T	C	15: 90,569,497	I228V	probably benign	Het
Cr2	A	T	1: 195,150,914		probably benign	Het
Csmd3	T	C	15: 47,658,999		probably benign	Het
Cyp2c23	A	G	19: 44,005,607	V440A	probably benign	Het
Dag1	T	C	9: 108,208,082	D620G	possibly damaging	Het
Dmxl1	T	A	18: 49,878,382	L1202*	probably null	Het
Dnah3	T	G	7: 119,943,575	H3538P	probably benign	Het
Dock8	A	T	19: 25,089,928	Q312L	probably benign	Het
E2f7	T	G	10: 110,774,735	V407G	probably benign	Het
F13b	T	C	1: 139,516,427	S500P	probably damaging	Het
F5	A	G	1: 164,211,826	I2002V	probably benign	Het
Flywch1	T	A	17: 23,760,345	M439L	possibly damaging	Het
Gcn1l1	C	A	5: 115,619,700	A2488E	probably damaging	Het
Gria1	T	C	11: 57,317,774	S832P	probably damaging	Het
Hnrnpr	T	C	4: 136,339,413		probably benign	Het
Hps3	A	G	3: 20,029,001	I177T	probably benign	Het
Irgm2	G	A	11: 58,220,341	G298D	probably benign	Het
Kcnk7	G	A	19: 5,706,202	G152D	probably damaging	Het
Man2a2	T	C	7: 80,362,906	T620A	probably benign	Het
Mapk12	A	G	15: 89,137,466		probably benign	Het
Mapk6	T	C	9: 75,390,290	Y315C	probably damaging	Het
Mdga2	T	A	12: 66,723,131		probably null	Het
Nap1l1	A	G	10: 111,492,911	R234G	possibly damaging	Het
Olfm5	C	A	7: 104,160,744	V137F	possibly damaging	Het
Olfr1423	G	T	19: 12,036,677	H22N	probably benign	Het
Pcdha11	C	T	18: 37,012,833	T659I	probably benign	Het
Pfkm	T	C	15: 98,129,306	V620A	possibly damaging	Het
Rbak	A	G	5: 143,176,600		probably benign	Het
Rbl2	A	G	8: 91,090,216	I401M	probably benign	Het
Rragc	T	C	4: 123,921,059	S183P	probably damaging	Het
Sept3	A	G	15: 82,279,613		probably benign	Het
Skiv2l2	T	C	13: 112,918,561		probably benign	Het
Slc22a6	A	T	19: 8,626,214		probably benign	Het
Spag4	A	T	2: 156,068,497	T348S	probably benign	Het
Sptbn1	T	C	11: 30,104,623	R2157G	probably benign	Het
Tmem168	G	A	6: 13,582,941	T263M	probably damaging	Het
Tnik	T	A	3: 28,570,858		probably null	Het
Tnpo2	T	A	8: 85,050,508	V549E	probably damaging	Het
Ttll7	A	C	3: 146,940,021	K545Q	possibly damaging	Het
Tubgcp5	T	G	7: 55,799,473	D139E	probably benign	Het
Vmn1r233	T	A	17: 20,994,599	N30Y	probably damaging	Het
Vmn2r25	T	G	6: 123,853,003	D63A	possibly damaging	Het
Vmn2r79	T	A	7: 87,037,277	L622Q	probably damaging	Het
Vmn2r84	T	C	10: 130,386,279	M691V	probably benign	Het
Zc3hc1	A	T	6: 30,372,730		probably benign	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
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
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

Posted On

2014-05-07