Incidental Mutation 'IGL00471:Hgfac'
| ID |
6446 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hgfac
|
| Ensembl Gene |
ENSMUSG00000029102 |
| Gene Name |
hepatocyte growth factor activator |
| Synonyms |
HGFA |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
IGL00471
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
35198853-35205805 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 35203870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 463
(H463N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030985]
[ENSMUST00000202573]
|
| AlphaFold |
Q9R098 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030985
AA Change: H463N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030985
Gene: ENSMUSG00000029102
AA Change: H463N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
93 |
N/A |
INTRINSIC |
|
FN2
|
98 |
145 |
7.31e-27 |
SMART |
|
EGF
|
160 |
195 |
2.11e-4 |
SMART |
|
Pfam:fn1
|
199 |
234 |
7.7e-11 |
PFAM |
|
EGF
|
241 |
276 |
1.69e-3 |
SMART |
|
KR
|
281 |
366 |
5.2e-36 |
SMART |
|
Tryp_SPc
|
405 |
639 |
2.07e-90 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201038
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201994
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202126
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202168
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202573
|
| SMART Domains |
Protein: ENSMUSP00000144344
Gene: ENSMUSG00000029102
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000202921
AA Change: H188N
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a serine protease enzyme that proteolytically activates hepatocyte growth factor (HGF) and plays a vital role in the regulation of HGF activity in the regeneration and repair of various tissues. The encoded protein is an inactive zymogen that is proteolytically activated to generate a heterodimeric enzyme consisting of a short chain and a long chain linked by a disulfide bridge. Mice lacking the encoded protein display an impairment in mucosal regeneration after injury. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygous null mice display impaired intestinal regeneration and increased mortality after intestinal injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,657,661 (GRCm39) |
V2793A |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,631,389 (GRCm39) |
Y249C |
probably damaging |
Het |
| Anks1 |
T |
C |
17: 28,277,390 (GRCm39) |
S1082P |
possibly damaging |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| C4b |
T |
G |
17: 34,953,403 (GRCm39) |
T1027P |
probably damaging |
Het |
| Clec4d |
A |
T |
6: 123,251,732 (GRCm39) |
I205F |
probably damaging |
Het |
| Cpeb2 |
A |
T |
5: 43,443,174 (GRCm39) |
Y955F |
probably damaging |
Het |
| Cst13 |
T |
A |
2: 148,672,224 (GRCm39) |
M133K |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,871,405 (GRCm39) |
L2418P |
probably damaging |
Het |
| Gli3 |
T |
C |
13: 15,898,354 (GRCm39) |
|
probably null |
Het |
| Hlx |
A |
T |
1: 184,463,792 (GRCm39) |
F183I |
probably damaging |
Het |
| Ighv1-5 |
T |
G |
12: 114,477,093 (GRCm39) |
I70L |
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,837,838 (GRCm39) |
T1181A |
probably damaging |
Het |
| Morn1 |
A |
C |
4: 155,176,785 (GRCm39) |
K140Q |
possibly damaging |
Het |
| Nek1 |
A |
T |
8: 61,496,318 (GRCm39) |
M358L |
probably benign |
Het |
| Pcbd2 |
C |
T |
13: 55,924,413 (GRCm39) |
|
probably benign |
Het |
| Pramel7 |
A |
T |
2: 87,321,429 (GRCm39) |
L202Q |
probably damaging |
Het |
| Shq1 |
A |
G |
6: 100,641,444 (GRCm39) |
S146P |
probably benign |
Het |
| Slc25a21 |
T |
C |
12: 56,764,922 (GRCm39) |
|
probably null |
Het |
| Slc26a7 |
A |
T |
4: 14,548,403 (GRCm39) |
|
probably benign |
Het |
| Sspo |
G |
A |
6: 48,475,147 (GRCm39) |
|
probably benign |
Het |
| Stam2 |
T |
C |
2: 52,610,947 (GRCm39) |
D25G |
probably damaging |
Het |
| Tbx18 |
A |
T |
9: 87,587,676 (GRCm39) |
D480E |
possibly damaging |
Het |
| Tmem26 |
A |
T |
10: 68,614,511 (GRCm39) |
I309F |
possibly damaging |
Het |
| Ube2c |
A |
G |
2: 164,613,213 (GRCm39) |
T44A |
probably benign |
Het |
|
| Other mutations in Hgfac |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01999:Hgfac
|
APN |
5 |
35,202,155 (GRCm39) |
missense |
probably benign |
|
|
IGL02133:Hgfac
|
APN |
5 |
35,203,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02314:Hgfac
|
APN |
5 |
35,198,941 (GRCm39) |
start codon destroyed |
probably benign |
0.21 |
|
IGL02337:Hgfac
|
APN |
5 |
35,199,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02405:Hgfac
|
APN |
5 |
35,201,824 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02451:Hgfac
|
APN |
5 |
35,201,158 (GRCm39) |
splice site |
probably null |
|
|
IGL02508:Hgfac
|
APN |
5 |
35,204,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02584:Hgfac
|
APN |
5 |
35,201,305 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02986:Hgfac
|
APN |
5 |
35,201,207 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0506:Hgfac
|
UTSW |
5 |
35,201,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0664:Hgfac
|
UTSW |
5 |
35,205,522 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1733:Hgfac
|
UTSW |
5 |
35,201,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1775:Hgfac
|
UTSW |
5 |
35,200,194 (GRCm39) |
unclassified |
probably benign |
|
|
R1871:Hgfac
|
UTSW |
5 |
35,200,257 (GRCm39) |
makesense |
probably null |
|
|
R3826:Hgfac
|
UTSW |
5 |
35,205,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4553:Hgfac
|
UTSW |
5 |
35,200,200 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5888:Hgfac
|
UTSW |
5 |
35,202,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5905:Hgfac
|
UTSW |
5 |
35,199,706 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6017:Hgfac
|
UTSW |
5 |
35,201,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6056:Hgfac
|
UTSW |
5 |
35,198,973 (GRCm39) |
nonsense |
probably null |
|
|
R6124:Hgfac
|
UTSW |
5 |
35,201,728 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7059:Hgfac
|
UTSW |
5 |
35,201,773 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7232:Hgfac
|
UTSW |
5 |
35,204,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7555:Hgfac
|
UTSW |
5 |
35,199,972 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8367:Hgfac
|
UTSW |
5 |
35,202,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8371:Hgfac
|
UTSW |
5 |
35,202,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9254:Hgfac
|
UTSW |
5 |
35,202,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9730:Hgfac
|
UTSW |
5 |
35,204,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation