Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02704:Met'

304262

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02704

Quality Score

Status

Chromosome

Chromosomal Location

17463799-17573979 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17491256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 6 (V6E)

Ref Sequence

ENSEMBL: ENSMUSP00000117856 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000080469
AA Change: V6E

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000079324
Gene: ENSMUSG00000009376
AA Change: V6E

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: V6E

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000111102
Gene: ENSMUSG00000009376
AA Change: V6E

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: V6E

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000111103
Gene: ENSMUSG00000009376
AA Change: V6E

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

possibly damaging
Transcript: ENSMUST00000140070
AA Change: V6E

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117856
Gene: ENSMUSG00000009376
AA Change: V6E

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	G	T	2: 93,673,271 (GRCm39)	P162Q	probably damaging	Het
Alb	A	G	5: 90,616,368 (GRCm39)	N291S	possibly damaging	Het
Ankar	T	C	1: 72,691,502 (GRCm39)	D935G	possibly damaging	Het
Atp13a5	A	T	16: 29,070,080 (GRCm39)	C935*	probably null	Het
Bivm	A	T	1: 44,165,606 (GRCm39)	T19S	probably benign	Het
Ddah2	C	A	17: 35,279,983 (GRCm39)	D158E	possibly damaging	Het
Dnah7b	C	T	1: 46,181,293 (GRCm39)	T1060I	probably benign	Het
Efhb	T	C	17: 53,733,297 (GRCm39)	T525A	probably damaging	Het
Exoc3	A	G	13: 74,322,263 (GRCm39)	M604T	probably benign	Het
Frmpd1	T	G	4: 45,285,082 (GRCm39)	I1301S	possibly damaging	Het
Gm5269	T	C	1: 45,929,235 (GRCm39)	T2A	probably benign	Het
Hif3a	T	A	7: 16,784,686 (GRCm39)		probably benign	Het
Hpgds	A	T	6: 65,100,621 (GRCm39)	L119*	probably null	Het
Iars1	A	G	13: 49,874,576 (GRCm39)	D750G	probably damaging	Het
Ift43	T	A	12: 86,207,951 (GRCm39)	D106E	probably benign	Het
Iqub	T	A	6: 24,505,909 (GRCm39)		probably benign	Het
Lamb1	A	G	12: 31,368,466 (GRCm39)	K1199E	probably benign	Het
Mast3	T	A	8: 71,239,519 (GRCm39)	I395F	probably damaging	Het
Megf8	T	C	7: 25,059,207 (GRCm39)	S2236P	probably damaging	Het
Muc5ac	A	T	7: 141,349,000 (GRCm39)	T479S	possibly damaging	Het
Myo7b	T	C	18: 32,100,014 (GRCm39)	T1623A	probably benign	Het
Neto1	T	C	18: 86,491,948 (GRCm39)	L283P	probably damaging	Het
Onecut1	A	G	9: 74,770,312 (GRCm39)	N245S	probably damaging	Het
Or2t6	T	C	14: 14,175,483 (GRCm38)	I200V	probably benign	Het
Or4k41	A	T	2: 111,279,492 (GRCm39)	E2D	probably benign	Het
Or8b52	G	A	9: 38,577,063 (GRCm39)	P26S	possibly damaging	Het
Or8g34	T	C	9: 39,373,579 (GRCm39)	V284A	probably damaging	Het
Or8i2	T	C	2: 86,852,621 (GRCm39)	Q89R	probably benign	Het
Pkd1l1	A	G	11: 8,784,910 (GRCm39)	V1958A	probably benign	Het
Plb1	C	T	5: 32,511,011 (GRCm39)	A1292V	probably benign	Het
Plekha5	A	G	6: 140,489,592 (GRCm39)	E223G	probably damaging	Het
Pou1f1	A	T	16: 65,326,685 (GRCm39)	Q121L	possibly damaging	Het
Rbm25	G	A	12: 83,689,500 (GRCm39)	G47D	probably damaging	Het
Rif1	T	A	2: 51,983,588 (GRCm39)	M577K	probably damaging	Het
Scn8a	A	G	15: 100,905,943 (GRCm39)	E712G	possibly damaging	Het
Snx24	A	G	18: 53,460,509 (GRCm39)	N29S	probably benign	Het
Tmem217	A	T	17: 29,745,532 (GRCm39)	V66D	probably damaging	Het
Ttn	T	G	2: 76,597,985 (GRCm39)	N19643H	probably damaging	Het
Uimc1	T	C	13: 55,178,772 (GRCm39)	T646A	probably benign	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
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
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

Posted On

2015-04-16