Incidental Mutation 'IGL02133:Hgfac'
| ID |
281072 |
| 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 # |
IGL02133
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
35198853-35205805 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35203931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 483
(Y483C)
|
| 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: Y483C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030985
Gene: ENSMUSG00000029102
AA Change: Y483C
| 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: Y208C
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530068E07Rik |
G |
T |
11: 52,294,337 (GRCm39) |
A193S |
probably damaging |
Het |
| Adam4 |
A |
G |
12: 81,466,803 (GRCm39) |
V606A |
probably benign |
Het |
| Atp2c2 |
A |
G |
8: 120,481,074 (GRCm39) |
I821V |
probably benign |
Het |
| Bmi1 |
A |
T |
2: 18,688,488 (GRCm39) |
R160W |
probably damaging |
Het |
| Ccdc198 |
T |
A |
14: 49,470,424 (GRCm39) |
Q165L |
probably benign |
Het |
| Ccdc88c |
G |
A |
12: 100,906,349 (GRCm39) |
R1062C |
probably damaging |
Het |
| Cntnap3 |
A |
T |
13: 64,899,487 (GRCm39) |
|
probably benign |
Het |
| Col20a1 |
C |
T |
2: 180,648,937 (GRCm39) |
T940I |
probably damaging |
Het |
| Csmd3 |
A |
C |
15: 47,721,338 (GRCm39) |
M1535R |
possibly damaging |
Het |
| Dhx38 |
C |
A |
8: 110,284,873 (GRCm39) |
E487* |
probably null |
Het |
| Fam186b |
A |
G |
15: 99,171,584 (GRCm39) |
S888P |
probably damaging |
Het |
| Fancm |
G |
A |
12: 65,153,249 (GRCm39) |
G1235D |
probably benign |
Het |
| Grin3a |
C |
T |
4: 49,792,946 (GRCm39) |
W262* |
probably null |
Het |
| Gtdc1 |
A |
T |
2: 44,465,455 (GRCm39) |
M305K |
probably damaging |
Het |
| H2-M9 |
T |
C |
17: 36,952,629 (GRCm39) |
E139G |
possibly damaging |
Het |
| Haus1 |
A |
T |
18: 77,854,611 (GRCm39) |
L53Q |
probably damaging |
Het |
| Hipk2 |
C |
T |
6: 38,796,069 (GRCm39) |
V67I |
probably benign |
Het |
| Kbtbd8 |
T |
C |
6: 95,098,713 (GRCm39) |
|
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,500,683 (GRCm39) |
T683A |
probably benign |
Het |
| Ldhb |
A |
T |
6: 142,438,226 (GRCm39) |
M277K |
probably benign |
Het |
| Mgam |
T |
C |
6: 40,620,010 (GRCm39) |
L33P |
probably damaging |
Het |
| Ndst1 |
A |
G |
18: 60,832,618 (GRCm39) |
F571L |
probably benign |
Het |
| Neb |
G |
T |
2: 52,102,816 (GRCm39) |
|
probably null |
Het |
| Nrxn1 |
A |
G |
17: 90,950,671 (GRCm39) |
S503P |
probably damaging |
Het |
| Paqr3 |
A |
G |
5: 97,243,790 (GRCm39) |
V308A |
probably benign |
Het |
| Scnn1g |
T |
C |
7: 121,342,922 (GRCm39) |
F292L |
probably damaging |
Het |
| Stk3 |
A |
G |
15: 35,099,662 (GRCm39) |
F88S |
probably damaging |
Het |
| Tcaf2 |
T |
A |
6: 42,604,330 (GRCm39) |
E683V |
probably benign |
Het |
| Tprkb |
T |
C |
6: 85,904,893 (GRCm39) |
V123A |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,175,540 (GRCm39) |
Y1213H |
probably damaging |
Het |
| Vwa5b1 |
A |
G |
4: 138,313,868 (GRCm39) |
|
probably null |
Het |
| Wls |
A |
G |
3: 159,603,007 (GRCm39) |
Y140C |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,409,760 (GRCm39) |
S28P |
possibly damaging |
Het |
|
| Other mutations in Hgfac |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00471:Hgfac
|
APN |
5 |
35,203,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01999:Hgfac
|
APN |
5 |
35,202,155 (GRCm39) |
missense |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation