Mutagenetix > Incidental Mutation

Incidental Mutation 'R8325:Met'

644044

Institutional Source

Beutler Lab

Gene Symbol

Met

Ensembl Gene

ENSMUSG00000009376

Gene Name

met proto-oncogene

Synonyms

Par4, HGF receptor, c-Met

MMRRC Submission

067857-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8325 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17463799-17573979 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17571671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1330 (E1330G)

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 damaging
Transcript: ENSMUST00000080469
AA Change: E1330G

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

SMART Domains

Protein: ENSMUSP00000079324
Gene: ENSMUSG00000009376
AA Change: E1330G

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: E1330G

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

SMART Domains

Protein: ENSMUSP00000111102
Gene: ENSMUSG00000009376
AA Change: E1330G

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: E1330G

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

SMART Domains

Protein: ENSMUSP00000111103
Gene: ENSMUSG00000009376
AA Change: E1330G

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

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (51/51)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acr	T	C	15: 89,453,954 (GRCm39)	V97A	probably benign	Het
Agrn	C	T	4: 156,258,119 (GRCm39)	G1081D	probably benign	Het
Ang2	A	G	14: 51,432,960 (GRCm39)	S141P	probably damaging	Het
Ap3b2	T	C	7: 81,134,237 (GRCm39)		probably null	Het
Apba2	A	T	7: 64,345,730 (GRCm39)	T307S	probably benign	Het
Cadm2	T	A	16: 66,612,338 (GRCm39)	N84Y	possibly damaging	Het
Camsap1	T	C	2: 25,829,375 (GRCm39)	D783G	probably benign	Het
Ccdc62	T	C	5: 124,092,448 (GRCm39)	C478R	probably benign	Het
Cep290	A	C	10: 100,353,670 (GRCm39)	H801P	probably benign	Het
Chfr	T	A	5: 110,310,629 (GRCm39)	Y555*	probably null	Het
Cmas	T	C	6: 142,717,065 (GRCm39)		probably null	Het
Cmtm7	T	C	9: 114,592,415 (GRCm39)	I61V	probably benign	Het
Cyb5d2	A	G	11: 72,669,651 (GRCm39)	S236P	possibly damaging	Het
Dcp1b	C	T	6: 119,192,397 (GRCm39)	Q438*	probably null	Het
Dgcr8	T	C	16: 18,076,149 (GRCm39)	Q678R	probably damaging	Het
Emc1	T	A	4: 139,092,521 (GRCm39)	M487K	possibly damaging	Het
Gm7361	T	C	5: 26,467,154 (GRCm39)	S258P	probably damaging	Het
Hbs1l	A	G	10: 21,183,548 (GRCm39)	I96M	probably benign	Het
Ifi27l2a	G	A	12: 103,409,144 (GRCm39)	A49V	unknown	Het
Igkv10-96	T	C	6: 68,609,088 (GRCm39)	Y69C	possibly damaging	Het
Igsf10	A	T	3: 59,225,954 (GRCm39)	V2573D	probably damaging	Het
Kcng3	T	C	17: 83,939,007 (GRCm39)	N14S	possibly damaging	Het
Kif20a	A	G	18: 34,759,975 (GRCm39)	T94A	possibly damaging	Het
Lcp2	T	A	11: 34,032,394 (GRCm39)	V324E	probably benign	Het
Lmod3	T	C	6: 97,224,379 (GRCm39)	K481E	probably benign	Het
Mroh1	GCCCAGGCCCC	GCC	15: 76,316,415 (GRCm39)		probably null	Het
Mss51	T	C	14: 20,534,771 (GRCm39)	D333G	possibly damaging	Het
Nav3	A	G	10: 109,541,464 (GRCm39)	V1933A	probably benign	Het
Nbas	A	G	12: 13,338,796 (GRCm39)	Y212C	probably damaging	Het
Nkapd1	T	C	9: 50,521,608 (GRCm39)	I104M	probably benign	Het
Npsr1	C	T	9: 24,198,118 (GRCm39)		probably benign	Het
Nt5e	A	G	9: 88,245,615 (GRCm39)	E295G	probably benign	Het
Or6b1	T	C	6: 42,815,124 (GRCm39)	F103S	probably damaging	Het
Or9m1b	A	T	2: 87,836,537 (GRCm39)	L186Q	probably damaging	Het
Papss1	A	G	3: 131,288,372 (GRCm39)	T136A	probably benign	Het
Pcdha1	A	T	18: 37,063,867 (GRCm39)	D177V	possibly damaging	Het
Pcolce2	A	T	9: 95,574,973 (GRCm39)	S308C	probably damaging	Het
Pdhx	G	T	2: 102,872,597 (GRCm39)	P162T	probably benign	Het
Plin3	C	T	17: 56,593,268 (GRCm39)	R98Q	probably benign	Het
Prr36	T	C	8: 4,262,982 (GRCm39)	T895A	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rnf213	A	G	11: 119,321,271 (GRCm39)	N1243S		Het
Serpinb1b	A	T	13: 33,277,584 (GRCm39)	K272N	probably benign	Het
Sez6l	A	T	5: 112,575,982 (GRCm39)		probably null	Het
Syne1	A	T	10: 5,096,257 (GRCm39)	M739K	probably benign	Het
Tbc1d9	G	A	8: 83,966,667 (GRCm39)		probably null	Het
Trp53inp1	A	G	4: 11,164,561 (GRCm39)	D35G	probably damaging	Het
Trpc7	A	G	13: 56,952,524 (GRCm39)	V549A	probably damaging	Het
Usp18	T	C	6: 121,230,769 (GRCm39)	L66S	probably damaging	Het
Vmn1r238	C	T	18: 3,122,529 (GRCm39)	S295N	probably benign	Het
Vmn2r29	T	C	7: 7,244,941 (GRCm39)	D311G	probably damaging	Het
Vmn2r91	C	A	17: 18,356,625 (GRCm39)	A764D	probably damaging	Het
Wdfy4	T	A	14: 32,689,444 (GRCm39)	I3031F		Het
Wdr7	A	G	18: 63,911,535 (GRCm39)		probably null	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
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
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'- GCAAGGCAGAAGACTCTTGC -3'
(R):5'- CCAGAACTGTTTCTTGGAAGTGG -3'

Sequencing Primer
(F):5'- GAATACTGTCCAGACGCCTTGTAAG -3'
(R):5'- GGCTGGTGGACCTCTCATTC -3'

Posted On

2020-09-02