Mutagenetix > Incidental Mutation

Incidental Mutation 'R5415:Met'

427679

Institutional Source

Beutler Lab

Gene Symbol

Met

Ensembl Gene

ENSMUSG00000009376

Gene Name

met proto-oncogene

Synonyms

Par4, HGF receptor, c-Met

MMRRC Submission

042984-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5415 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17463799-17573979 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17527084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 512 (I512V)

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 benign
Transcript: ENSMUST00000080469
AA Change: I512V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000079324
Gene: ENSMUSG00000009376
AA Change: I512V

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
AA Change: I512V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000111102
Gene: ENSMUSG00000009376
AA Change: I512V

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
AA Change: I512V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000111103
Gene: ENSMUSG00000009376
AA Change: I512V

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

noncoding transcript
Transcript: ENSMUST00000145473

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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
Arhgef18	G	A	8: 3,438,075 (GRCm39)	R303H	probably damaging	Het
Ark2c	C	A	18: 77,554,435 (GRCm39)	V60L	probably damaging	Het
Asb15	A	T	6: 24,570,690 (GRCm39)	Q556L	probably benign	Het
Ccr1	G	T	9: 123,764,413 (GRCm39)	P39H	probably damaging	Het
Cd177	A	T	7: 24,451,816 (GRCm39)	L400Q	probably damaging	Het
Cfap298	G	T	16: 90,722,953 (GRCm39)	D260E	probably benign	Het
Cideb	T	C	14: 55,995,312 (GRCm39)	E58G	probably damaging	Het
Drd2	A	G	9: 49,313,553 (GRCm39)	K241E	possibly damaging	Het
Ect2	C	T	3: 27,201,002 (GRCm39)	C126Y	probably damaging	Het
Eef1d	T	C	15: 75,775,030 (GRCm39)	T210A	probably benign	Het
Enpp2	G	A	15: 54,745,552 (GRCm39)	H315Y	probably damaging	Het
Ero1b	A	T	13: 12,616,656 (GRCm39)	M362L	probably benign	Het
Exosc2	A	G	2: 31,562,578 (GRCm39)	K73E	possibly damaging	Het
Gm9637	T	A	14: 19,402,143 (GRCm38)		noncoding transcript	Het
Gstm5	A	G	3: 107,804,811 (GRCm39)	D101G	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kmt2c	T	C	5: 25,519,699 (GRCm39)	D2137G	probably benign	Het
Mecom	T	C	3: 30,011,675 (GRCm39)	D619G	possibly damaging	Het
Myh15	A	G	16: 48,937,658 (GRCm39)	K753R	probably null	Het
Nfatc4	A	G	14: 56,070,091 (GRCm39)	D753G	probably benign	Het
Or2l5	T	A	16: 19,333,996 (GRCm39)	H130L	possibly damaging	Het
Or4c113	T	A	2: 88,885,240 (GRCm39)	T177S	probably benign	Het
Or4c12	T	A	2: 89,773,731 (GRCm39)	T243S	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Parp9	C	T	16: 35,763,752 (GRCm39)	A10V	probably damaging	Het
Pcdh8	C	A	14: 80,007,688 (GRCm39)	E292*	probably null	Het
Pdpn	A	T	4: 142,995,788 (GRCm39)	V161D	probably damaging	Het
Peg3	A	G	7: 6,711,628 (GRCm39)	V1198A	probably benign	Het
Phykpl	T	C	11: 51,476,342 (GRCm39)	S21P	probably benign	Het
Plcb1	G	T	2: 135,189,322 (GRCm39)	V817F	possibly damaging	Het
Polk	T	C	13: 96,620,463 (GRCm39)	Y579C	probably benign	Het
Ppp1r18	A	G	17: 36,178,511 (GRCm39)	N129D	probably benign	Het
Psg29	C	A	7: 16,945,561 (GRCm39)		probably null	Het
Rims4	C	T	2: 163,760,596 (GRCm39)	R3H	probably benign	Het
Rps6kl1	A	T	12: 85,186,155 (GRCm39)	C292S	probably benign	Het
Uaca	G	T	9: 60,777,421 (GRCm39)	G603C	possibly damaging	Het
Vmn1r60	T	C	7: 5,547,416 (GRCm39)	H228R	probably benign	Het
Vmn2r7	T	C	3: 64,623,658 (GRCm39)	T221A	probably benign	Het
Zfp647	C	A	15: 76,795,593 (GRCm39)	V356L	possibly damaging	Het

Other mutations in Met

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00533:Met	APN	6	17,534,936 (GRCm39)	unclassified	probably benign
IGL01066:Met	APN	6	17,535,104 (GRCm39)	critical splice donor site	probably null
IGL01344:Met	APN	6	17,547,031 (GRCm39)	missense	probably benign	0.44
IGL01413:Met	APN	6	17,558,895 (GRCm39)	splice site	probably benign
IGL01608:Met	APN	6	17,558,729 (GRCm39)	missense	probably damaging	1.00
IGL01613:Met	APN	6	17,540,576 (GRCm39)	missense	probably damaging	1.00
IGL01820:Met	APN	6	17,534,230 (GRCm39)	missense	possibly damaging	0.89
IGL01843:Met	APN	6	17,491,700 (GRCm39)	missense	probably damaging	1.00
IGL02014:Met	APN	6	17,527,256 (GRCm39)	splice site	probably benign
IGL02027:Met	APN	6	17,563,726 (GRCm39)	splice site	probably benign
IGL02243:Met	APN	6	17,549,093 (GRCm39)	missense	probably damaging	1.00
IGL02373:Met	APN	6	17,491,528 (GRCm39)	missense	probably damaging	1.00
IGL02616:Met	APN	6	17,553,346 (GRCm39)	missense	probably damaging	1.00
IGL02702:Met	APN	6	17,534,142 (GRCm39)	missense	possibly damaging	0.92
IGL02704:Met	APN	6	17,491,256 (GRCm39)	missense	possibly damaging	0.62
IGL02714:Met	APN	6	17,491,851 (GRCm39)	nonsense	probably null
IGL02936:Met	APN	6	17,553,396 (GRCm39)	missense	probably damaging	1.00
IGL02943:Met	APN	6	17,535,928 (GRCm39)	missense	possibly damaging	0.84
IGL03057:Met	APN	6	17,558,765 (GRCm39)	missense	probably damaging	1.00
IGL03124:Met	APN	6	17,492,077 (GRCm39)	missense	probably benign	0.27
IGL03171:Met	APN	6	17,562,272 (GRCm39)	splice site	probably benign
IGL03266:Met	APN	6	17,540,537 (GRCm39)	missense	possibly damaging	0.61
IGL03285:Met	APN	6	17,553,336 (GRCm39)	missense	probably damaging	0.98
R0453:Met	UTSW	6	17,534,197 (GRCm39)	missense	possibly damaging	0.88
R0543:Met	UTSW	6	17,491,969 (GRCm39)	missense	probably damaging	1.00
R0601:Met	UTSW	6	17,555,631 (GRCm39)	splice site	probably null
R0652:Met	UTSW	6	17,491,709 (GRCm39)	missense	probably benign	0.00
R0941:Met	UTSW	6	17,491,393 (GRCm39)	missense	probably damaging	1.00
R1142:Met	UTSW	6	17,527,182 (GRCm39)	nonsense	probably null
R1553:Met	UTSW	6	17,491,460 (GRCm39)	missense	probably benign	0.01
R1569:Met	UTSW	6	17,531,503 (GRCm39)	nonsense	probably null
R1744:Met	UTSW	6	17,540,645 (GRCm39)	missense	possibly damaging	0.47
R2224:Met	UTSW	6	17,563,721 (GRCm39)	splice site	probably null
R2308:Met	UTSW	6	17,491,741 (GRCm39)	missense	probably benign	0.00
R2369:Met	UTSW	6	17,531,527 (GRCm39)	missense	probably benign	0.04
R2393:Met	UTSW	6	17,534,197 (GRCm39)	missense	probably damaging	0.99
R2419:Met	UTSW	6	17,535,829 (GRCm39)	splice site	probably benign
R2483:Met	UTSW	6	17,549,085 (GRCm39)	missense	probably damaging	1.00
R2511:Met	UTSW	6	17,491,966 (GRCm39)	missense	probably damaging	1.00
R3622:Met	UTSW	6	17,549,085 (GRCm39)	missense	probably damaging	1.00
R3623:Met	UTSW	6	17,549,085 (GRCm39)	missense	probably damaging	1.00
R3624:Met	UTSW	6	17,549,085 (GRCm39)	missense	probably damaging	1.00
R4050:Met	UTSW	6	17,533,983 (GRCm39)	missense	probably benign
R4051:Met	UTSW	6	17,548,728 (GRCm39)	missense	possibly damaging	0.86
R4159:Met	UTSW	6	17,562,271 (GRCm39)	splice site	probably null
R4208:Met	UTSW	6	17,548,728 (GRCm39)	missense	possibly damaging	0.86
R4622:Met	UTSW	6	17,513,383 (GRCm39)	missense	probably benign	0.19
R4672:Met	UTSW	6	17,571,803 (GRCm39)	missense	probably benign	0.33
R4737:Met	UTSW	6	17,491,540 (GRCm39)	missense	probably damaging	1.00
R4738:Met	UTSW	6	17,491,540 (GRCm39)	missense	probably damaging	1.00
R4834:Met	UTSW	6	17,491,412 (GRCm39)	missense	probably damaging	0.97
R4846:Met	UTSW	6	17,491,928 (GRCm39)	missense	probably damaging	0.99
R4855:Met	UTSW	6	17,558,796 (GRCm39)	missense	probably damaging	1.00
R4878:Met	UTSW	6	17,549,058 (GRCm39)	missense	probably damaging	1.00
R4902:Met	UTSW	6	17,546,995 (GRCm39)	missense	probably damaging	1.00
R5208:Met	UTSW	6	17,526,422 (GRCm39)	nonsense	probably null
R5355:Met	UTSW	6	17,491,361 (GRCm39)	missense	probably damaging	1.00
R5556:Met	UTSW	6	17,534,175 (GRCm39)	missense	probably benign	0.04
R5590:Met	UTSW	6	17,548,781 (GRCm39)	missense	probably benign	0.00
R5683:Met	UTSW	6	17,571,743 (GRCm39)	missense	probably damaging	1.00
R5872:Met	UTSW	6	17,562,197 (GRCm39)	missense	probably damaging	1.00
R5891:Met	UTSW	6	17,491,538 (GRCm39)	missense	probably benign	0.02
R5895:Met	UTSW	6	17,531,581 (GRCm39)	missense	probably benign	0.02
R6063:Met	UTSW	6	17,491,967 (GRCm39)	missense	probably damaging	1.00
R6262:Met	UTSW	6	17,553,403 (GRCm39)	missense	probably benign	0.00
R6362:Met	UTSW	6	17,558,732 (GRCm39)	missense	probably damaging	1.00
R6747:Met	UTSW	6	17,571,466 (GRCm39)	missense	probably damaging	1.00
R6966:Met	UTSW	6	17,531,531 (GRCm39)	missense	possibly damaging	0.65
R6989:Met	UTSW	6	17,535,928 (GRCm39)	missense	probably damaging	1.00
R6989:Met	UTSW	6	17,535,927 (GRCm39)	missense	possibly damaging	0.67
R7017:Met	UTSW	6	17,491,286 (GRCm39)	nonsense	probably null
R7037:Met	UTSW	6	17,547,127 (GRCm39)	intron	probably benign
R7141:Met	UTSW	6	17,527,154 (GRCm39)	missense	probably benign	0.01
R7242:Met	UTSW	6	17,491,316 (GRCm39)	missense	probably damaging	1.00
R7282:Met	UTSW	6	17,547,011 (GRCm39)	nonsense	probably null
R7624:Met	UTSW	6	17,558,834 (GRCm39)	missense	probably damaging	1.00
R7770:Met	UTSW	6	17,491,406 (GRCm39)	missense	possibly damaging	0.79
R7797:Met	UTSW	6	17,533,952 (GRCm39)	missense	probably damaging	1.00
R8082:Met	UTSW	6	17,492,312 (GRCm39)	missense	probably damaging	0.98
R8109:Met	UTSW	6	17,562,236 (GRCm39)	missense	probably damaging	1.00
R8162:Met	UTSW	6	17,547,061 (GRCm39)	missense	probably damaging	0.98
R8315:Met	UTSW	6	17,533,956 (GRCm39)	missense	probably damaging	0.99
R8325:Met	UTSW	6	17,571,671 (GRCm39)	missense	probably damaging	1.00
R8348:Met	UTSW	6	17,571,799 (GRCm39)	missense	probably benign	0.00
R8354:Met	UTSW	6	17,491,768 (GRCm39)	missense	probably damaging	1.00
R8448:Met	UTSW	6	17,571,799 (GRCm39)	missense	probably benign	0.00
R8454:Met	UTSW	6	17,491,768 (GRCm39)	missense	probably damaging	1.00
R8465:Met	UTSW	6	17,571,809 (GRCm39)	missense	probably benign	0.04
R8479:Met	UTSW	6	17,491,746 (GRCm39)	splice site	probably null
R8737:Met	UTSW	6	17,540,510 (GRCm39)	missense	probably benign	0.00
R8903:Met	UTSW	6	17,549,137 (GRCm39)	missense	probably benign	0.19
R8964:Met	UTSW	6	17,527,144 (GRCm39)	missense	probably damaging	1.00
R8998:Met	UTSW	6	17,491,534 (GRCm39)	missense	probably benign	0.43
R9088:Met	UTSW	6	17,548,715 (GRCm39)	nonsense	probably null
R9369:Met	UTSW	6	17,492,228 (GRCm39)	missense	probably benign
R9394:Met	UTSW	6	17,513,395 (GRCm39)	missense	probably damaging	1.00
R9530:Met	UTSW	6	17,558,831 (GRCm39)	missense	probably damaging	1.00
R9564:Met	UTSW	6	17,531,425 (GRCm39)	missense	probably benign
R9759:Met	UTSW	6	17,555,561 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACACTATACCTGCCAGTG -3'
(R):5'- GGTATTCCTACCTTATAAACCGCC -3'

Sequencing Primer
(F):5'- ACTATACCTGCCAGTGTTACCG -3'
(R):5'- CGGCAGACAGATCTCTTGAGTC -3'

Posted On

2016-09-01