Incidental Mutation 'R4388:Hgf'
| ID |
326297 |
| 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 |
| MMRRC Submission |
041125-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4388 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
16758493-16825150 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 16819941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 557
(H557Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030683]
[ENSMUST00000196645]
[ENSMUST00000199581]
|
| AlphaFold |
Q08048 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030683
AA Change: H557Q
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000030683
Gene: ENSMUSG00000028864
AA Change: H557Q
| 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 benign
Transcript: ENSMUST00000196645
AA Change: H552Q
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000142517
Gene: ENSMUSG00000028864
AA Change: H552Q
| 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 benign
Transcript: ENSMUST00000199581
AA Change: H557Q
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000143424
Gene: ENSMUSG00000028864
AA Change: H557Q
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
86% (31/36) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,464,693 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,729,828 (GRCm39) |
T218A |
probably damaging |
Het |
| Aldh1l2 |
T |
C |
10: 83,349,486 (GRCm39) |
D254G |
probably damaging |
Het |
| Arpc4 |
A |
G |
6: 113,362,458 (GRCm39) |
D36G |
probably damaging |
Het |
| Cd209b |
A |
G |
8: 3,975,960 (GRCm39) |
L67P |
probably damaging |
Het |
| Cldn20 |
G |
A |
17: 3,583,485 (GRCm39) |
M219I |
probably benign |
Het |
| Dmxl2 |
G |
A |
9: 54,303,551 (GRCm39) |
P2308S |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,533,329 (GRCm39) |
I549V |
probably damaging |
Het |
| Galnt2 |
T |
C |
8: 125,022,192 (GRCm39) |
|
probably null |
Het |
| Galnt9 |
A |
G |
5: 110,736,257 (GRCm39) |
D191G |
probably damaging |
Het |
| Ifna12 |
T |
C |
4: 88,521,346 (GRCm39) |
D67G |
probably benign |
Het |
| Igf1r |
A |
G |
7: 67,819,757 (GRCm39) |
I356V |
probably benign |
Het |
| Itih1 |
A |
G |
14: 30,663,512 (GRCm39) |
V164A |
possibly damaging |
Het |
| Kcnc1 |
C |
A |
7: 46,047,126 (GRCm39) |
R9S |
possibly damaging |
Het |
| Kmt2b |
A |
C |
7: 30,288,015 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
C |
T |
15: 98,751,507 (GRCm39) |
|
probably benign |
Het |
| Kng1 |
T |
A |
16: 22,898,068 (GRCm39) |
H489Q |
possibly damaging |
Het |
| Larp7-ps |
A |
T |
4: 92,079,351 (GRCm39) |
S157T |
probably benign |
Het |
| Map4k5 |
C |
A |
12: 69,892,583 (GRCm39) |
M115I |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
| Naca |
T |
C |
10: 127,880,661 (GRCm39) |
S1898P |
probably damaging |
Het |
| Nlrp4e |
A |
G |
7: 23,000,902 (GRCm39) |
K66E |
probably benign |
Het |
| Nlrp4e |
A |
G |
7: 23,020,652 (GRCm39) |
I380V |
probably benign |
Het |
| Pex26 |
A |
G |
6: 121,161,351 (GRCm39) |
D43G |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,986,598 (GRCm39) |
S966P |
probably damaging |
Het |
| Recql4 |
A |
G |
15: 76,590,158 (GRCm39) |
S659P |
probably benign |
Het |
| Serpina3n |
C |
A |
12: 104,377,616 (GRCm39) |
Q290K |
probably benign |
Het |
| Sft2d1 |
A |
G |
17: 8,539,469 (GRCm39) |
K91E |
possibly damaging |
Het |
| Slc25a16 |
T |
C |
10: 62,764,105 (GRCm39) |
V54A |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,069,249 (GRCm39) |
Y2846H |
possibly damaging |
Het |
| Ttll2 |
T |
A |
17: 7,618,599 (GRCm39) |
R443* |
probably null |
Het |
| Uty |
A |
G |
Y: 1,151,956 (GRCm39) |
S795P |
possibly damaging |
Het |
| Xrcc5 |
T |
A |
1: 72,369,189 (GRCm39) |
S348T |
possibly 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 |
|
PIT4378001:Hgf
|
UTSW |
5 |
16,816,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- ACCTGTGGTGTTCAGAATCTCTC -3'
(R):5'- CCAGGATTGCAGGTCTGAAAAG -3'
Sequencing Primer
(F):5'- CTCTCTGAACAAATGTGTTG -3'
(R):5'- TTGGTTTTTACACACACACACAC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation