Incidental Mutation 'R6747:Met'
ID |
530581 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Met
|
Ensembl Gene |
ENSMUSG00000009376 |
Gene Name |
met proto-oncogene |
Synonyms |
Par4, HGF receptor, c-Met |
MMRRC Submission |
044864-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6747 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
17463800-17573980 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 17571467 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Histidine
at position 1296
(Q1296H)
|
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: Q1296H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000079324 Gene: ENSMUSG00000009376 AA Change: Q1296H
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: Q1296H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000111102 Gene: ENSMUSG00000009376 AA Change: Q1296H
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: Q1296H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000111103 Gene: ENSMUSG00000009376 AA Change: Q1296H
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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
Validation Efficiency |
97% (68/70) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
C |
T |
3: 122,126,313 |
|
probably null |
Het |
Acyp1 |
C |
T |
12: 85,278,905 |
V107I |
probably null |
Het |
Aftph |
T |
C |
11: 20,726,144 |
|
probably null |
Het |
Agtpbp1 |
A |
T |
13: 59,544,353 |
|
probably null |
Het |
Arhgap15 |
C |
A |
2: 44,116,677 |
P269T |
probably damaging |
Het |
Arhgap30 |
T |
C |
1: 171,407,729 |
V557A |
probably damaging |
Het |
Asb3 |
T |
A |
11: 31,081,493 |
M410K |
probably benign |
Het |
B4galnt2 |
T |
C |
11: 95,868,634 |
|
probably null |
Het |
Birc3 |
A |
G |
9: 7,860,261 |
|
probably null |
Het |
Cav2 |
A |
T |
6: 17,286,951 |
N69Y |
probably damaging |
Het |
Cc2d2b |
G |
A |
19: 40,795,667 |
C826Y |
probably benign |
Het |
Cenpf |
T |
A |
1: 189,652,854 |
T2410S |
probably benign |
Het |
Chchd1 |
A |
G |
14: 20,703,380 |
D24G |
probably benign |
Het |
Cmip |
G |
A |
8: 117,436,879 |
G450S |
probably benign |
Het |
Col11a1 |
C |
T |
3: 114,212,450 |
Q534* |
probably null |
Het |
Col3a1 |
G |
T |
1: 45,338,622 |
|
probably benign |
Het |
Cox4i1 |
T |
C |
8: 120,673,230 |
I31T |
possibly damaging |
Het |
Cstf3 |
G |
T |
2: 104,646,767 |
V168F |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,725,340 |
I352T |
probably benign |
Het |
Ddx52 |
T |
C |
11: 83,955,302 |
V456A |
probably damaging |
Het |
Dmxl2 |
A |
T |
9: 54,416,088 |
H1337Q |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,636,062 |
T369A |
probably benign |
Het |
Dppa1 |
T |
A |
11: 46,625,595 |
I8F |
unknown |
Het |
Ebf1 |
G |
T |
11: 44,883,814 |
V213F |
probably damaging |
Het |
Foxb2 |
C |
A |
19: 16,872,833 |
E270* |
probably null |
Het |
Gclc |
A |
T |
9: 77,788,245 |
R450W |
probably damaging |
Het |
Gm13128 |
T |
C |
4: 144,332,978 |
W420R |
probably benign |
Het |
Grin2d |
T |
C |
7: 45,862,268 |
E251G |
probably damaging |
Het |
Hal |
A |
T |
10: 93,500,677 |
N423Y |
probably damaging |
Het |
Krtap4-8 |
T |
A |
11: 99,780,091 |
I185F |
unknown |
Het |
Lrp3 |
T |
A |
7: 35,211,437 |
Q61L |
probably benign |
Het |
Mphosph9 |
T |
A |
5: 124,297,699 |
N557I |
possibly damaging |
Het |
Mrpl46 |
C |
A |
7: 78,782,981 |
W16C |
probably benign |
Het |
Myh13 |
G |
A |
11: 67,350,419 |
R874Q |
probably damaging |
Het |
Nelfb |
G |
A |
2: 25,203,381 |
T453I |
probably benign |
Het |
Nos2 |
A |
G |
11: 78,952,954 |
D909G |
probably damaging |
Het |
Nr5a2 |
T |
C |
1: 136,882,344 |
E431G |
possibly damaging |
Het |
Nsmce2 |
A |
G |
15: 59,591,724 |
D149G |
probably benign |
Het |
Olfr203 |
T |
C |
16: 59,303,641 |
F164L |
probably benign |
Het |
Olfr690 |
C |
T |
7: 105,330,027 |
R55H |
probably benign |
Het |
Pcbp4 |
C |
A |
9: 106,460,648 |
|
probably null |
Het |
Peg10 |
A |
G |
6: 4,757,137 |
|
probably benign |
Het |
Pms2 |
C |
T |
5: 143,925,419 |
P154L |
probably benign |
Het |
Pou6f2 |
A |
C |
13: 18,129,187 |
L112R |
probably benign |
Het |
Prdm6 |
A |
T |
18: 53,465,046 |
|
probably benign |
Het |
Prob1 |
G |
A |
18: 35,655,154 |
R12W |
probably damaging |
Het |
Rif1 |
T |
A |
2: 52,078,263 |
|
probably null |
Het |
Rpl9-ps6 |
A |
G |
19: 32,466,143 |
S137P |
probably benign |
Het |
Rsf1 |
GGCG |
GGCGACGGCAGCG |
7: 97,579,906 |
|
probably benign |
Homo |
Sec23ip |
A |
G |
7: 128,752,849 |
|
silent |
Het |
Slc38a9 |
T |
C |
13: 112,690,180 |
C151R |
probably benign |
Het |
Slc39a8 |
T |
C |
3: 135,849,180 |
|
probably null |
Het |
Slc6a18 |
C |
A |
13: 73,677,991 |
|
probably benign |
Het |
Snw1 |
T |
C |
12: 87,464,710 |
D57G |
probably damaging |
Het |
Sox6 |
C |
G |
7: 115,541,731 |
R505P |
probably damaging |
Het |
Speg |
T |
C |
1: 75,410,395 |
|
probably null |
Het |
Spire2 |
C |
T |
8: 123,356,846 |
R190C |
probably damaging |
Het |
Stard9 |
A |
C |
2: 120,698,383 |
H1707P |
possibly damaging |
Het |
Tenm3 |
G |
T |
8: 48,343,243 |
T237K |
probably damaging |
Het |
Themis2 |
T |
A |
4: 132,796,262 |
E31V |
possibly damaging |
Het |
Trim56 |
T |
G |
5: 137,114,521 |
Q47P |
probably damaging |
Het |
Trim58 |
T |
C |
11: 58,651,264 |
I350T |
probably benign |
Het |
Ttll7 |
C |
T |
3: 146,944,056 |
P639S |
probably benign |
Het |
Ubxn6 |
A |
G |
17: 56,070,650 |
|
probably null |
Het |
Vmn2r114 |
A |
T |
17: 23,309,876 |
F417L |
probably benign |
Het |
Vmn2r29 |
T |
A |
7: 7,231,422 |
M822L |
probably benign |
Het |
Vps9d1 |
T |
C |
8: 123,254,007 |
D27G |
probably damaging |
Het |
Wdr3 |
C |
T |
3: 100,138,724 |
R931Q |
probably damaging |
Het |
Whamm |
G |
A |
7: 81,578,302 |
|
probably null |
Het |
Zcchc24 |
T |
C |
14: 25,757,033 |
H142R |
probably damaging |
Het |
Zfp292 |
T |
C |
4: 34,806,894 |
K2050R |
probably damaging |
Het |
|
Other mutations in Met |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00533:Met
|
APN |
6 |
17,534,937 (GRCm38) |
unclassified |
probably benign |
|
IGL01066:Met
|
APN |
6 |
17,535,105 (GRCm38) |
critical splice donor site |
probably null |
|
IGL01344:Met
|
APN |
6 |
17,547,032 (GRCm38) |
missense |
probably benign |
0.44 |
IGL01413:Met
|
APN |
6 |
17,558,896 (GRCm38) |
splice site |
probably benign |
|
IGL01608:Met
|
APN |
6 |
17,558,730 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01613:Met
|
APN |
6 |
17,540,577 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01820:Met
|
APN |
6 |
17,534,231 (GRCm38) |
missense |
possibly damaging |
0.89 |
IGL01843:Met
|
APN |
6 |
17,491,701 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02014:Met
|
APN |
6 |
17,527,257 (GRCm38) |
splice site |
probably benign |
|
IGL02027:Met
|
APN |
6 |
17,563,727 (GRCm38) |
splice site |
probably benign |
|
IGL02243:Met
|
APN |
6 |
17,549,094 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02373:Met
|
APN |
6 |
17,491,529 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02616:Met
|
APN |
6 |
17,553,347 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02702:Met
|
APN |
6 |
17,534,143 (GRCm38) |
missense |
possibly damaging |
0.92 |
IGL02704:Met
|
APN |
6 |
17,491,257 (GRCm38) |
missense |
possibly damaging |
0.62 |
IGL02714:Met
|
APN |
6 |
17,491,852 (GRCm38) |
nonsense |
probably null |
|
IGL02936:Met
|
APN |
6 |
17,553,397 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02943:Met
|
APN |
6 |
17,535,929 (GRCm38) |
missense |
possibly damaging |
0.84 |
IGL03057:Met
|
APN |
6 |
17,558,766 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03124:Met
|
APN |
6 |
17,492,078 (GRCm38) |
missense |
probably benign |
0.27 |
IGL03171:Met
|
APN |
6 |
17,562,273 (GRCm38) |
splice site |
probably benign |
|
IGL03266:Met
|
APN |
6 |
17,540,538 (GRCm38) |
missense |
possibly damaging |
0.61 |
IGL03285:Met
|
APN |
6 |
17,553,337 (GRCm38) |
missense |
probably damaging |
0.98 |
R0453:Met
|
UTSW |
6 |
17,534,198 (GRCm38) |
missense |
possibly damaging |
0.88 |
R0543:Met
|
UTSW |
6 |
17,491,970 (GRCm38) |
missense |
probably damaging |
1.00 |
R0601:Met
|
UTSW |
6 |
17,555,632 (GRCm38) |
splice site |
probably null |
|
R0652:Met
|
UTSW |
6 |
17,491,710 (GRCm38) |
missense |
probably benign |
0.00 |
R0941:Met
|
UTSW |
6 |
17,491,394 (GRCm38) |
missense |
probably damaging |
1.00 |
R1142:Met
|
UTSW |
6 |
17,527,183 (GRCm38) |
nonsense |
probably null |
|
R1553:Met
|
UTSW |
6 |
17,491,461 (GRCm38) |
missense |
probably benign |
0.01 |
R1569:Met
|
UTSW |
6 |
17,531,504 (GRCm38) |
nonsense |
probably null |
|
R1744:Met
|
UTSW |
6 |
17,540,646 (GRCm38) |
missense |
possibly damaging |
0.47 |
R2224:Met
|
UTSW |
6 |
17,563,722 (GRCm38) |
splice site |
probably null |
|
R2308:Met
|
UTSW |
6 |
17,491,742 (GRCm38) |
missense |
probably benign |
0.00 |
R2369:Met
|
UTSW |
6 |
17,531,528 (GRCm38) |
missense |
probably benign |
0.04 |
R2393:Met
|
UTSW |
6 |
17,534,198 (GRCm38) |
missense |
probably damaging |
0.99 |
R2419:Met
|
UTSW |
6 |
17,535,830 (GRCm38) |
splice site |
probably benign |
|
R2483:Met
|
UTSW |
6 |
17,549,086 (GRCm38) |
missense |
probably damaging |
1.00 |
R2511:Met
|
UTSW |
6 |
17,491,967 (GRCm38) |
missense |
probably damaging |
1.00 |
R3622:Met
|
UTSW |
6 |
17,549,086 (GRCm38) |
missense |
probably damaging |
1.00 |
R3623:Met
|
UTSW |
6 |
17,549,086 (GRCm38) |
missense |
probably damaging |
1.00 |
R3624:Met
|
UTSW |
6 |
17,549,086 (GRCm38) |
missense |
probably damaging |
1.00 |
R4050:Met
|
UTSW |
6 |
17,533,984 (GRCm38) |
missense |
probably benign |
|
R4051:Met
|
UTSW |
6 |
17,548,729 (GRCm38) |
missense |
possibly damaging |
0.86 |
R4159:Met
|
UTSW |
6 |
17,562,272 (GRCm38) |
splice site |
probably null |
|
R4208:Met
|
UTSW |
6 |
17,548,729 (GRCm38) |
missense |
possibly damaging |
0.86 |
R4622:Met
|
UTSW |
6 |
17,513,384 (GRCm38) |
missense |
probably benign |
0.19 |
R4672:Met
|
UTSW |
6 |
17,571,804 (GRCm38) |
missense |
probably benign |
0.33 |
R4737:Met
|
UTSW |
6 |
17,491,541 (GRCm38) |
missense |
probably damaging |
1.00 |
R4738:Met
|
UTSW |
6 |
17,491,541 (GRCm38) |
missense |
probably damaging |
1.00 |
R4834:Met
|
UTSW |
6 |
17,491,413 (GRCm38) |
missense |
probably damaging |
0.97 |
R4846:Met
|
UTSW |
6 |
17,491,929 (GRCm38) |
missense |
probably damaging |
0.99 |
R4855:Met
|
UTSW |
6 |
17,558,797 (GRCm38) |
missense |
probably damaging |
1.00 |
R4878:Met
|
UTSW |
6 |
17,549,059 (GRCm38) |
missense |
probably damaging |
1.00 |
R4902:Met
|
UTSW |
6 |
17,546,996 (GRCm38) |
missense |
probably damaging |
1.00 |
R5208:Met
|
UTSW |
6 |
17,526,423 (GRCm38) |
nonsense |
probably null |
|
R5355:Met
|
UTSW |
6 |
17,491,362 (GRCm38) |
missense |
probably damaging |
1.00 |
R5415:Met
|
UTSW |
6 |
17,527,085 (GRCm38) |
missense |
probably benign |
0.01 |
R5556:Met
|
UTSW |
6 |
17,534,176 (GRCm38) |
missense |
probably benign |
0.04 |
R5590:Met
|
UTSW |
6 |
17,548,782 (GRCm38) |
missense |
probably benign |
0.00 |
R5683:Met
|
UTSW |
6 |
17,571,744 (GRCm38) |
missense |
probably damaging |
1.00 |
R5872:Met
|
UTSW |
6 |
17,562,198 (GRCm38) |
missense |
probably damaging |
1.00 |
R5891:Met
|
UTSW |
6 |
17,491,539 (GRCm38) |
missense |
probably benign |
0.02 |
R5895:Met
|
UTSW |
6 |
17,531,582 (GRCm38) |
missense |
probably benign |
0.02 |
R6063:Met
|
UTSW |
6 |
17,491,968 (GRCm38) |
missense |
probably damaging |
1.00 |
R6262:Met
|
UTSW |
6 |
17,553,404 (GRCm38) |
missense |
probably benign |
0.00 |
R6362:Met
|
UTSW |
6 |
17,558,733 (GRCm38) |
missense |
probably damaging |
1.00 |
R6966:Met
|
UTSW |
6 |
17,531,532 (GRCm38) |
missense |
possibly damaging |
0.65 |
R6989:Met
|
UTSW |
6 |
17,535,929 (GRCm38) |
missense |
probably damaging |
1.00 |
R6989:Met
|
UTSW |
6 |
17,535,928 (GRCm38) |
missense |
possibly damaging |
0.67 |
R7017:Met
|
UTSW |
6 |
17,491,287 (GRCm38) |
nonsense |
probably null |
|
R7037:Met
|
UTSW |
6 |
17,547,128 (GRCm38) |
intron |
probably benign |
|
R7141:Met
|
UTSW |
6 |
17,527,155 (GRCm38) |
missense |
probably benign |
0.01 |
R7242:Met
|
UTSW |
6 |
17,491,317 (GRCm38) |
missense |
probably damaging |
1.00 |
R7282:Met
|
UTSW |
6 |
17,547,012 (GRCm38) |
nonsense |
probably null |
|
R7624:Met
|
UTSW |
6 |
17,558,835 (GRCm38) |
missense |
probably damaging |
1.00 |
R7770:Met
|
UTSW |
6 |
17,491,407 (GRCm38) |
missense |
possibly damaging |
0.79 |
R7797:Met
|
UTSW |
6 |
17,533,953 (GRCm38) |
missense |
probably damaging |
1.00 |
R8082:Met
|
UTSW |
6 |
17,492,313 (GRCm38) |
missense |
probably damaging |
0.98 |
R8109:Met
|
UTSW |
6 |
17,562,237 (GRCm38) |
missense |
probably damaging |
1.00 |
R8162:Met
|
UTSW |
6 |
17,547,062 (GRCm38) |
missense |
probably damaging |
0.98 |
R8315:Met
|
UTSW |
6 |
17,533,957 (GRCm38) |
missense |
probably damaging |
0.99 |
R8325:Met
|
UTSW |
6 |
17,571,672 (GRCm38) |
missense |
probably damaging |
1.00 |
R8348:Met
|
UTSW |
6 |
17,571,800 (GRCm38) |
missense |
probably benign |
0.00 |
R8354:Met
|
UTSW |
6 |
17,491,769 (GRCm38) |
missense |
probably damaging |
1.00 |
R8448:Met
|
UTSW |
6 |
17,571,800 (GRCm38) |
missense |
probably benign |
0.00 |
R8454:Met
|
UTSW |
6 |
17,491,769 (GRCm38) |
missense |
probably damaging |
1.00 |
R8465:Met
|
UTSW |
6 |
17,571,810 (GRCm38) |
missense |
probably benign |
0.04 |
R8479:Met
|
UTSW |
6 |
17,491,747 (GRCm38) |
splice site |
probably null |
|
R8737:Met
|
UTSW |
6 |
17,540,511 (GRCm38) |
missense |
probably benign |
0.00 |
R8903:Met
|
UTSW |
6 |
17,549,138 (GRCm38) |
missense |
probably benign |
0.19 |
R8964:Met
|
UTSW |
6 |
17,527,145 (GRCm38) |
missense |
probably damaging |
1.00 |
R8998:Met
|
UTSW |
6 |
17,491,535 (GRCm38) |
missense |
probably benign |
0.43 |
R9088:Met
|
UTSW |
6 |
17,548,716 (GRCm38) |
nonsense |
probably null |
|
R9369:Met
|
UTSW |
6 |
17,492,229 (GRCm38) |
missense |
probably benign |
|
R9394:Met
|
UTSW |
6 |
17,513,396 (GRCm38) |
missense |
probably damaging |
1.00 |
R9530:Met
|
UTSW |
6 |
17,558,832 (GRCm38) |
missense |
probably damaging |
1.00 |
R9564:Met
|
UTSW |
6 |
17,531,426 (GRCm38) |
missense |
probably benign |
|
R9759:Met
|
UTSW |
6 |
17,555,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AATGGTGTGAAGTGTGTCAAGC -3'
(R):5'- AAAAGGACGGGCGCATTTC -3'
Sequencing Primer
(F):5'- ATGAATTACGGAGAGCTACCGATTTC -3'
(R):5'- CGCATTTCCGCTTTGGG -3'
|
Posted On |
2018-08-01 |