Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01613:Met'

92266

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 #

IGL01613

Quality Score

Status

Chromosome

Chromosomal Location

17463799-17573979 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17540576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 834 (Y834C)

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 damaging
Transcript: ENSMUST00000080469
AA Change: Y834C

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

SMART Domains

Protein: ENSMUSP00000079324
Gene: ENSMUSG00000009376
AA Change: Y834C

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: Y834C

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

SMART Domains

Protein: ENSMUSP00000111102
Gene: ENSMUSG00000009376
AA Change: Y834C

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: Y834C

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

SMART Domains

Protein: ENSMUSP00000111103
Gene: ENSMUSG00000009376
AA Change: Y834C

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

Predicted Effect

unknown
Transcript: ENSMUST00000152802
AA Change: Y114C

SMART Domains

Protein: ENSMUSP00000118755
Gene: ENSMUSG00000009376
AA Change: Y114C

Domain	Start	End	E-Value	Type
IPT	21	116	3.38e-16	SMART
IPT	118	202	4.34e-5	SMART

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	G	5: 125,589,716 (GRCm39)	M446R	possibly damaging	Het
Abca16	A	G	7: 120,140,500 (GRCm39)	N1599S	probably benign	Het
Ankib1	G	A	5: 3,763,146 (GRCm39)	Q528*	probably null	Het
Ano10	A	T	9: 122,088,606 (GRCm39)	L347M	possibly damaging	Het
Bag6	T	C	17: 35,361,992 (GRCm39)		probably benign	Het
Bpnt1	T	C	1: 185,086,191 (GRCm39)	V182A	possibly damaging	Het
Capn13	G	T	17: 73,638,053 (GRCm39)	T450N	probably benign	Het
Cbr3	A	T	16: 93,480,331 (GRCm39)	E40V	probably benign	Het
Cdk10	T	C	8: 123,955,126 (GRCm39)	I159T	probably damaging	Het
Cela3b	T	C	4: 137,152,382 (GRCm39)	D65G	possibly damaging	Het
Csf2rb	T	G	15: 78,219,502 (GRCm39)		probably benign	Het
Cyp2b19	C	T	7: 26,462,886 (GRCm39)	T256I	possibly damaging	Het
Dpp9	T	C	17: 56,497,713 (GRCm39)	H687R	probably benign	Het
Elovl1	T	C	4: 118,288,467 (GRCm39)	V108A	probably benign	Het
Emb	T	A	13: 117,408,614 (GRCm39)	N318K	probably damaging	Het
Ermp1	A	G	19: 29,617,339 (GRCm39)	L36P	probably damaging	Het
Esco2	T	G	14: 66,064,044 (GRCm39)	H380P	possibly damaging	Het
Gm9747	G	A	1: 82,211,809 (GRCm39)		probably benign	Het
Golga1	A	G	2: 38,910,138 (GRCm39)	M603T	probably benign	Het
Hsph1	A	G	5: 149,550,743 (GRCm39)	V411A	probably benign	Het
Igsf21	C	T	4: 139,834,675 (GRCm39)	G66S	possibly damaging	Het
Ints11	T	C	4: 155,969,655 (GRCm39)		probably null	Het
Jakmip1	G	T	5: 37,258,112 (GRCm39)	A253S	probably damaging	Het
Mgl2	A	G	11: 70,024,984 (GRCm39)	T2A	probably benign	Het
Myh2	G	T	11: 67,088,170 (GRCm39)	V1929L	probably benign	Het
Myh8	T	C	11: 67,192,536 (GRCm39)	S1472P	probably benign	Het
Myo1e	T	C	9: 70,248,555 (GRCm39)		probably benign	Het
Ndufaf7	A	G	17: 79,244,931 (GRCm39)	I17V	probably benign	Het
Or4a47	T	C	2: 89,666,152 (GRCm39)	T46A	probably damaging	Het
Or5ak22	C	T	2: 85,230,515 (GRCm39)	D121N	probably damaging	Het
Or5h25	A	T	16: 58,930,284 (GRCm39)	S230T	probably damaging	Het
Or6c6c	A	G	10: 129,541,492 (GRCm39)	I248M	probably benign	Het
Or7g18	T	A	9: 18,786,617 (GRCm39)		probably benign	Het
Or8b50	A	G	9: 38,517,850 (GRCm39)	I30V	probably null	Het
Or8k1	T	G	2: 86,047,505 (GRCm39)	D183A	probably damaging	Het
Ppef2	T	C	5: 92,383,679 (GRCm39)	E477G	probably benign	Het
Scmh1	T	A	4: 120,387,097 (GRCm39)		probably benign	Het
Scn1a	C	A	2: 66,116,281 (GRCm39)	D1473Y	probably damaging	Het
Sdr42e1	C	T	8: 118,389,676 (GRCm39)	V322I	probably benign	Het
Slco1a7	G	T	6: 141,658,940 (GRCm39)	T552K	possibly damaging	Het
Spta1	G	A	1: 174,035,960 (GRCm39)	A1089T	probably damaging	Het
Sufu	T	C	19: 46,464,059 (GRCm39)	Y424H	probably damaging	Het
Tgs1	T	C	4: 3,585,183 (GRCm39)	F108L	possibly damaging	Het
Ttn	T	C	2: 76,805,308 (GRCm39)	N177S	probably benign	Het
Tyk2	T	C	9: 21,031,872 (GRCm39)	D401G	probably damaging	Het
Vav1	T	C	17: 57,614,067 (GRCm39)	F650L	possibly damaging	Het
Wdr12	T	C	1: 60,119,718 (GRCm39)	H385R	probably damaging	Het
Xab2	T	C	8: 3,660,880 (GRCm39)	M745V	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
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
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

2013-12-09