Mutagenetix > Incidental Mutation

Incidental Mutation 'R7141:Met'

553331

Institutional Source

Beutler Lab

Gene Symbol

Met

Ensembl Gene

ENSMUSG00000009376

Gene Name

met proto-oncogene

Synonyms

Par4, HGF receptor, c-Met

MMRRC Submission

045221-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7141 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17463799-17573979 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17527154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 535 (I535K)

Ref Sequence

ENSEMBL: ENSMUSP00000079324 (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: I535K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000079324
Gene: ENSMUSG00000009376
AA Change: I535K

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: I535K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000111102
Gene: ENSMUSG00000009376
AA Change: I535K

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: I535K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000111103
Gene: ENSMUSG00000009376
AA Change: I535K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (56/56)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	C	1: 74,323,270 (GRCm39)		probably null	Het
Abhd10	C	T	16: 45,563,169 (GRCm39)	R29Q	probably benign	Het
Adgrv1	A	G	13: 81,640,620 (GRCm39)	Y3369H	probably benign	Het
Agl	A	G	3: 116,546,935 (GRCm39)	I1305T	probably benign	Het
Apba3	A	G	10: 81,108,889 (GRCm39)	I551V	probably damaging	Het
Appbp2	A	T	11: 85,082,577 (GRCm39)	Y551*	probably null	Het
Btbd17	T	C	11: 114,682,641 (GRCm39)	N357S	possibly damaging	Het
Casp2	T	C	6: 42,257,329 (GRCm39)	F426S	possibly damaging	Het
Cdh5	A	G	8: 104,839,633 (GRCm39)	N35D	probably benign	Het
Cep350	G	T	1: 155,790,494 (GRCm39)	Q1354K	probably damaging	Het
Cep44	A	G	8: 56,992,886 (GRCm39)	C243R	probably damaging	Het
Chst4	A	T	8: 110,757,471 (GRCm39)	S131T	probably damaging	Het
Cox15	T	C	19: 43,725,186 (GRCm39)	N406D	probably benign	Het
Cttnbp2	C	T	6: 18,380,467 (GRCm39)	R1467H	probably benign	Het
Dock8	A	G	19: 25,158,984 (GRCm39)	D1714G	probably null	Het
Erbb2	G	T	11: 98,318,135 (GRCm39)	R457L	probably damaging	Het
Esyt3	T	C	9: 99,203,493 (GRCm39)	N463S	probably benign	Het
Fam171a1	C	T	2: 3,226,189 (GRCm39)	Q441*	probably null	Het
Fam186b	T	A	15: 99,181,773 (GRCm39)	M142L	probably benign	Het
Git2	G	T	5: 114,907,759 (GRCm39)	C35*	probably null	Het
Gm21103	T	G	14: 17,482,795 (GRCm39)	Q202P	probably damaging	Het
Gm5622	G	T	14: 51,893,339 (GRCm39)	E89*	probably null	Het
Hmcn2	C	A	2: 31,250,908 (GRCm39)	T790K	probably benign	Het
Hspg2	T	A	4: 137,279,427 (GRCm39)	L3114H	probably damaging	Het
Igkv3-10	A	T	6: 70,549,965 (GRCm39)	Q37L	possibly damaging	Het
Kcp	G	T	6: 29,487,511 (GRCm39)	Y1106*	probably null	Het
Khsrp	T	C	17: 57,332,602 (GRCm39)	D226G	possibly damaging	Het
Klre1	T	A	6: 129,560,129 (GRCm39)	W134R	probably damaging	Het
Lrrc66	A	G	5: 73,787,320 (GRCm39)	I10T	probably benign	Het
Map4	T	C	9: 109,807,938 (GRCm39)	M1T	probably null	Het
Mmut	T	C	17: 41,263,730 (GRCm39)	V500A	possibly damaging	Het
Mrgprb1	A	G	7: 48,097,435 (GRCm39)	V159A	possibly damaging	Het
Mrpl41	A	G	2: 24,864,468 (GRCm39)	L68P	probably damaging	Het
Mtmr4	T	C	11: 87,491,439 (GRCm39)	W135R	probably damaging	Het
Myh10	A	G	11: 68,692,965 (GRCm39)	D1420G	probably benign	Het
Naglu	A	C	11: 100,963,056 (GRCm39)	D229A	probably benign	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Ncln	G	T	10: 81,323,683 (GRCm39)	Y517*	probably null	Het
Nr1h4	G	A	10: 89,334,091 (GRCm39)	R100*	probably null	Het
Or5k1	G	A	16: 58,617,771 (GRCm39)	T146M	probably benign	Het
P2rx5	A	T	11: 73,051,474 (GRCm39)	T18S	probably damaging	Het
Pclo	T	C	5: 14,729,271 (GRCm39)	S2710P	unknown	Het
Pdhx	A	T	2: 102,903,659 (GRCm39)	F46I	probably benign	Het
Piezo2	A	T	18: 63,278,181 (GRCm39)	L241*	probably null	Het
Pitpnm1	G	A	19: 4,152,787 (GRCm39)	V65M	probably damaging	Het
Rgs3	A	G	4: 62,608,724 (GRCm39)	D330G	probably damaging	Het
Scaf8	T	C	17: 3,209,457 (GRCm39)	V60A	unknown	Het
Sema4c	A	G	1: 36,592,101 (GRCm39)	Y249H	probably damaging	Het
Spp2	T	C	1: 88,335,050 (GRCm39)	Y27H	probably damaging	Het
Sugct	T	A	13: 17,819,372 (GRCm39)	I158F	possibly damaging	Het
Sympk	A	T	7: 18,788,017 (GRCm39)	I1178F	probably benign	Het
Tmppe	T	C	9: 114,234,036 (GRCm39)	Y112H	probably benign	Het
Trp53bp2	A	G	1: 182,276,073 (GRCm39)	T187A		Het
Tspoap1	A	G	11: 87,665,523 (GRCm39)	S754G	probably damaging	Het
Vmn1r214	C	T	13: 23,218,839 (GRCm39)	A111V	probably benign	Het
Vmn2r70	G	C	7: 85,208,044 (GRCm39)	S811C	probably benign	Het
Zfp638	T	C	6: 83,844,181 (GRCm39)	S15P	unknown	Het
Zfp763	A	G	17: 33,237,769 (GRCm39)	S459P	probably 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
R5415:Met	UTSW	6	17,527,084 (GRCm39)	missense	probably benign	0.01
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
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'- AGATGCCGTGAACTGATACTC -3'
(R):5'- AGCACTTCAGATGCAGAATGAG -3'

Sequencing Primer
(F):5'- GATGCCGTGAACTGATACTCATACG -3'
(R):5'- TGTCCCCCACGTAGATGAATACATTG -3'

Posted On

2019-05-15