Incidental Mutation 'PIT4378001:Hgf'
| ID |
554986 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hgf
|
| Ensembl Gene |
ENSMUSG00000028864 |
| Gene Name |
hepatocyte growth factor |
| Synonyms |
C230052L06Rik, scatter factor, SF/HGF, NK2, HGF/SF, NK1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4378001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
16758493-16825150 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16816860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 497
(V497A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030683
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030683]
[ENSMUST00000196645]
[ENSMUST00000199581]
|
| AlphaFold |
Q08048 |
| PDB Structure |
A Mechanistic Basis for Converting a Receptor Tyrosine Kinase Agonist to an Antagonist [X-RAY DIFFRACTION]
Crystal structure of the N-terminal fragment (31-127) of the mouse hepatocyte growth factor/scatter factor [X-RAY DIFFRACTION]
Crystal Structure of the NK2 Fragment (31-290) of the mouse Hepatocyte Growth Factor/Scatter Factor [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030683
AA Change: V497A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030683
Gene: ENSMUSG00000028864
AA Change: V497A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
25 |
N/A |
INTRINSIC |
|
PAN_AP
|
38 |
123 |
6.47e-13 |
SMART |
|
KR
|
127 |
209 |
3.03e-46 |
SMART |
|
KR
|
210 |
291 |
9.04e-45 |
SMART |
|
KR
|
304 |
386 |
7.35e-45 |
SMART |
|
KR
|
390 |
472 |
1.02e-38 |
SMART |
|
Tryp_SPc
|
495 |
719 |
5.6e-55 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196645
AA Change: V492A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142517
Gene: ENSMUSG00000028864
AA Change: V492A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
25 |
N/A |
INTRINSIC |
|
PAN_AP
|
38 |
123 |
6.47e-13 |
SMART |
|
KR
|
127 |
204 |
3.76e-42 |
SMART |
|
KR
|
205 |
286 |
9.04e-45 |
SMART |
|
KR
|
299 |
381 |
7.35e-45 |
SMART |
|
KR
|
385 |
467 |
1.02e-38 |
SMART |
|
Tryp_SPc
|
490 |
714 |
5.6e-55 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199581
AA Change: V497A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143424
Gene: ENSMUSG00000028864
AA Change: V497A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
25 |
N/A |
INTRINSIC |
|
PAN_AP
|
38 |
123 |
6.47e-13 |
SMART |
|
KR
|
127 |
209 |
3.03e-46 |
SMART |
|
KR
|
210 |
291 |
9.04e-45 |
SMART |
|
KR
|
304 |
386 |
7.35e-45 |
SMART |
|
KR
|
390 |
472 |
1.02e-38 |
SMART |
|
Tryp_SPc
|
495 |
719 |
5.6e-55 |
SMART |
|
| Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.8%
- 10x: 85.0%
- 20x: 72.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a protein that binds to the hepatocyte growth factor receptor to regulate cell growth, cell motility and morphogenesis in numerous cell and tissue types. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the hepatocyte growth factor alpha and beta chains, which heterodimerize to form the mature active protein. Although this protein is a member of the peptidase S1 family of serine proteases, it lacks peptidase activity. Homozygous knockout mice for this gene exhibit embryonic lethality due to impaired development of the placenta and liver. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced embryonic livers, impaired migration of dermomyotome precursors affecting skeletal muscle formation, defective navigation of hypoglossal motor axons, abnormal placentas, and prenatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310033P09Rik |
T |
C |
11: 59,099,802 (GRCm39) |
V100A |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,117,601 (GRCm39) |
V188A |
possibly damaging |
Het |
| Aldh6a1 |
T |
C |
12: 84,488,646 (GRCm39) |
D80G |
probably benign |
Het |
| Ankrd50 |
T |
C |
3: 38,509,412 (GRCm39) |
Q62R |
possibly damaging |
Het |
| Aopep |
T |
C |
13: 63,163,021 (GRCm39) |
L14P |
probably damaging |
Het |
| Arrdc1 |
T |
A |
2: 24,816,645 (GRCm39) |
Y177F |
probably damaging |
Het |
| Asap1 |
C |
T |
15: 64,007,697 (GRCm39) |
R384Q |
probably damaging |
Het |
| Atxn2l |
A |
T |
7: 126,096,443 (GRCm39) |
V433D |
probably benign |
Het |
| Bbs1 |
G |
A |
19: 4,941,703 (GRCm39) |
A529V |
probably benign |
Het |
| Bbx |
G |
A |
16: 50,100,836 (GRCm39) |
R20* |
probably null |
Het |
| Bend5 |
T |
C |
4: 111,288,304 (GRCm39) |
V106A |
probably benign |
Het |
| C1galt1 |
A |
G |
6: 7,863,944 (GRCm39) |
N8S |
probably benign |
Het |
| Cdc42ep1 |
G |
A |
15: 78,733,880 (GRCm39) |
D327N |
possibly damaging |
Het |
| Cep162 |
A |
G |
9: 87,099,198 (GRCm39) |
S767P |
probably benign |
Het |
| Cep43 |
T |
C |
17: 8,401,105 (GRCm39) |
S209P |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 15,945,728 (GRCm39) |
T3562A |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,570,362 (GRCm39) |
S1815P |
probably damaging |
Het |
| Ei24 |
A |
T |
9: 36,697,320 (GRCm39) |
L136Q |
probably damaging |
Het |
| Extl2 |
T |
G |
3: 115,804,339 (GRCm39) |
M1R |
probably null |
Het |
| Fat3 |
T |
C |
9: 16,288,104 (GRCm39) |
E473G |
probably benign |
Het |
| Fcgbpl1 |
G |
A |
7: 27,853,889 (GRCm39) |
D1618N |
possibly damaging |
Het |
| Fhip1a |
A |
G |
3: 85,637,858 (GRCm39) |
L147P |
probably damaging |
Het |
| G6pc3 |
T |
A |
11: 102,080,827 (GRCm39) |
W26R |
probably damaging |
Het |
| Hc |
T |
A |
2: 34,921,876 (GRCm39) |
Y610F |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,552,368 (GRCm39) |
D77G |
probably damaging |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
| Hyou1 |
A |
C |
9: 44,302,148 (GRCm39) |
D968A |
probably benign |
Het |
| Jmjd1c |
T |
A |
10: 67,065,692 (GRCm39) |
S1525T |
probably damaging |
Het |
| Kcnc4 |
G |
A |
3: 107,354,879 (GRCm39) |
T523I |
probably benign |
Het |
| Kcng1 |
C |
T |
2: 168,104,604 (GRCm39) |
C414Y |
probably damaging |
Het |
| Klhdc10 |
T |
C |
6: 30,447,411 (GRCm39) |
I204T |
probably damaging |
Het |
| Krt18 |
A |
T |
15: 101,938,358 (GRCm39) |
T194S |
probably benign |
Het |
| Krt76 |
A |
C |
15: 101,800,842 (GRCm39) |
N151K |
probably damaging |
Het |
| Krtap31-2 |
A |
G |
11: 99,827,542 (GRCm39) |
T125A |
possibly damaging |
Het |
| Lama5 |
A |
G |
2: 179,831,238 (GRCm39) |
V1807A |
possibly damaging |
Het |
| Lats1 |
T |
G |
10: 7,581,369 (GRCm39) |
V718G |
probably damaging |
Het |
| Mef2b |
A |
G |
8: 70,616,910 (GRCm39) |
K4E |
probably damaging |
Het |
| Mertk |
T |
C |
2: 128,624,537 (GRCm39) |
|
probably null |
Het |
| Mroh8 |
A |
G |
2: 157,070,620 (GRCm39) |
V577A |
possibly damaging |
Het |
| Mtcl1 |
T |
G |
17: 66,745,274 (GRCm39) |
N381T |
probably damaging |
Het |
| Nfyc |
T |
A |
4: 120,647,688 (GRCm39) |
|
probably null |
Het |
| Nol4 |
C |
A |
18: 23,172,933 (GRCm39) |
W56L |
probably damaging |
Het |
| Notch2 |
A |
T |
3: 98,050,272 (GRCm39) |
D1849V |
probably damaging |
Het |
| Or10ad1 |
G |
A |
15: 98,105,452 (GRCm39) |
T271I |
probably damaging |
Het |
| Or10j7 |
T |
C |
1: 173,011,381 (GRCm39) |
T207A |
probably benign |
Het |
| Or14c45 |
A |
T |
7: 86,176,306 (GRCm39) |
T114S |
possibly damaging |
Het |
| Or4n4b |
T |
C |
14: 50,536,355 (GRCm39) |
N137S |
probably benign |
Het |
| Or5an10 |
A |
G |
19: 12,276,076 (GRCm39) |
M140T |
probably damaging |
Het |
| Or7g28 |
T |
A |
9: 19,272,471 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or8s5 |
A |
G |
15: 98,238,153 (GRCm39) |
V239A |
possibly damaging |
Het |
| Oxr1 |
G |
A |
15: 41,664,978 (GRCm39) |
V138I |
probably benign |
Het |
| Pars2 |
A |
G |
4: 106,511,490 (GRCm39) |
E424G |
possibly damaging |
Het |
| Peli2 |
C |
A |
14: 48,405,726 (GRCm39) |
Y50* |
probably null |
Het |
| Plag1 |
T |
A |
4: 3,905,492 (GRCm39) |
H66L |
probably benign |
Het |
| Psme4 |
T |
C |
11: 30,771,079 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
A |
T |
16: 72,801,423 (GRCm39) |
S1016C |
probably damaging |
Het |
| Rrbp1 |
A |
G |
2: 143,816,460 (GRCm39) |
V723A |
probably benign |
Het |
| Sgip1 |
C |
A |
4: 102,778,280 (GRCm39) |
D292E |
unknown |
Het |
| Skint4 |
T |
A |
4: 111,944,232 (GRCm39) |
C23S |
probably benign |
Het |
| Slc22a28 |
A |
C |
19: 8,049,279 (GRCm39) |
S323R |
probably damaging |
Het |
| Slc41a3 |
A |
G |
6: 90,617,891 (GRCm39) |
T306A |
probably benign |
Het |
| Spata13 |
A |
G |
14: 60,987,445 (GRCm39) |
M868V |
probably damaging |
Het |
| Spata6 |
T |
G |
4: 111,603,378 (GRCm39) |
I31S |
possibly damaging |
Het |
| Sycp3 |
A |
T |
10: 88,302,366 (GRCm39) |
K119* |
probably null |
Het |
| Tlk2 |
T |
A |
11: 105,172,046 (GRCm39) |
S739T |
unknown |
Het |
| Trim10 |
T |
C |
17: 37,188,020 (GRCm39) |
V412A |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,211,765 (GRCm39) |
F377I |
probably benign |
Het |
| Uck1 |
T |
A |
2: 32,146,046 (GRCm39) |
H283L |
probably damaging |
Het |
| Unc5a |
T |
C |
13: 55,143,681 (GRCm39) |
Y122H |
possibly damaging |
Het |
| Uncx |
C |
T |
5: 139,530,377 (GRCm39) |
R152* |
probably null |
Het |
| Usp44 |
A |
G |
10: 93,681,517 (GRCm39) |
|
probably benign |
Het |
| Vamp2 |
A |
C |
11: 68,980,564 (GRCm39) |
D44A |
probably benign |
Het |
| Vmn2r83 |
A |
G |
10: 79,304,849 (GRCm39) |
T20A |
probably benign |
Het |
| Vmn2r84 |
A |
T |
10: 130,221,784 (GRCm39) |
I812N |
probably damaging |
Het |
| Vrtn |
T |
G |
12: 84,695,943 (GRCm39) |
L231R |
probably damaging |
Het |
| Wdr75 |
A |
G |
1: 45,859,333 (GRCm39) |
T677A |
probably damaging |
Het |
| Xylt1 |
C |
A |
7: 117,148,100 (GRCm39) |
S221R |
possibly damaging |
Het |
| Zscan22 |
A |
G |
7: 12,637,983 (GRCm39) |
E125G |
possibly damaging |
Het |
| Zxdc |
A |
T |
6: 90,350,698 (GRCm39) |
H383L |
probably damaging |
Het |
|
| Other mutations in Hgf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Hgf
|
APN |
5 |
16,816,880 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL00427:Hgf
|
APN |
5 |
16,783,484 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL00788:Hgf
|
APN |
5 |
16,803,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01290:Hgf
|
APN |
5 |
16,809,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01333:Hgf
|
APN |
5 |
16,781,939 (GRCm39) |
nonsense |
probably null |
|
|
IGL01568:Hgf
|
APN |
5 |
16,769,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02314:Hgf
|
APN |
5 |
16,777,600 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02328:Hgf
|
APN |
5 |
16,803,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02368:Hgf
|
APN |
5 |
16,769,792 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02486:Hgf
|
APN |
5 |
16,807,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02654:Hgf
|
APN |
5 |
16,766,049 (GRCm39) |
missense |
probably benign |
|
|
Foiegras
|
UTSW |
5 |
16,820,800 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0708:Hgf
|
UTSW |
5 |
16,771,761 (GRCm39) |
nonsense |
probably null |
|
|
R0710:Hgf
|
UTSW |
5 |
16,771,761 (GRCm39) |
nonsense |
probably null |
|
|
R0718:Hgf
|
UTSW |
5 |
16,798,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0967:Hgf
|
UTSW |
5 |
16,798,839 (GRCm39) |
splice site |
probably benign |
|
|
R1181:Hgf
|
UTSW |
5 |
16,823,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1589:Hgf
|
UTSW |
5 |
16,818,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1705:Hgf
|
UTSW |
5 |
16,820,800 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1983:Hgf
|
UTSW |
5 |
16,766,010 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2021:Hgf
|
UTSW |
5 |
16,781,919 (GRCm39) |
missense |
probably benign |
|
|
R2441:Hgf
|
UTSW |
5 |
16,809,788 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4083:Hgf
|
UTSW |
5 |
16,820,856 (GRCm39) |
nonsense |
probably null |
|
|
R4084:Hgf
|
UTSW |
5 |
16,820,856 (GRCm39) |
nonsense |
probably null |
|
|
R4211:Hgf
|
UTSW |
5 |
16,819,991 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4388:Hgf
|
UTSW |
5 |
16,819,941 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4394:Hgf
|
UTSW |
5 |
16,823,949 (GRCm39) |
nonsense |
probably null |
|
|
R4575:Hgf
|
UTSW |
5 |
16,777,599 (GRCm39) |
missense |
probably benign |
|
|
R5044:Hgf
|
UTSW |
5 |
16,819,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5319:Hgf
|
UTSW |
5 |
16,771,860 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5585:Hgf
|
UTSW |
5 |
16,769,799 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5700:Hgf
|
UTSW |
5 |
16,815,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5814:Hgf
|
UTSW |
5 |
16,807,305 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6125:Hgf
|
UTSW |
5 |
16,803,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6749:Hgf
|
UTSW |
5 |
16,818,640 (GRCm39) |
splice site |
probably null |
|
|
R6891:Hgf
|
UTSW |
5 |
16,809,920 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6962:Hgf
|
UTSW |
5 |
16,820,752 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7251:Hgf
|
UTSW |
5 |
16,798,942 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7296:Hgf
|
UTSW |
5 |
16,769,841 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7463:Hgf
|
UTSW |
5 |
16,783,448 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7470:Hgf
|
UTSW |
5 |
16,823,854 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7630:Hgf
|
UTSW |
5 |
16,803,248 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7807:Hgf
|
UTSW |
5 |
16,782,009 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8098:Hgf
|
UTSW |
5 |
16,766,059 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8120:Hgf
|
UTSW |
5 |
16,818,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8132:Hgf
|
UTSW |
5 |
16,807,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8499:Hgf
|
UTSW |
5 |
16,771,854 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8929:Hgf
|
UTSW |
5 |
16,798,988 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9016:Hgf
|
UTSW |
5 |
16,823,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9126:Hgf
|
UTSW |
5 |
16,765,979 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9197:Hgf
|
UTSW |
5 |
16,766,059 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9347:Hgf
|
UTSW |
5 |
16,809,921 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9478:Hgf
|
UTSW |
5 |
16,766,029 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9696:Hgf
|
UTSW |
5 |
16,777,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9729:Hgf
|
UTSW |
5 |
16,766,029 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9732:Hgf
|
UTSW |
5 |
16,820,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Hgf
|
UTSW |
5 |
16,809,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Hgf
|
UTSW |
5 |
16,823,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCACTCAACAGCAAGGATGAAC -3'
(R):5'- GGACAGAAATCAGTCCCTGGTC -3'
Sequencing Primer
(F):5'- GATGAACATAGCAAGTATCTTAGGC -3'
(R):5'- CCCCAGCTTAGTGTCTTGTATGG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation