Incidental Mutation 'IGL02451:Hgfac'
| ID |
293672 |
| 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 # |
IGL02451
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
35198853-35205805 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 35201158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030985]
[ENSMUST00000087684]
[ENSMUST00000114283]
[ENSMUST00000114285]
[ENSMUST00000202573]
|
| AlphaFold |
Q9R098 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030985
|
| SMART Domains |
Protein: ENSMUSP00000030985
Gene: ENSMUSG00000029102
| 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 |
probably benign
Transcript: ENSMUST00000087684
|
| SMART Domains |
Protein: ENSMUSP00000084970
Gene: ENSMUSG00000029101
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
29 |
98 |
5.25e-18 |
SMART |
|
PTB
|
224 |
373 |
5.05e-28 |
SMART |
|
low complexity region
|
443 |
456 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
685 |
697 |
N/A |
INTRINSIC |
|
RGS
|
715 |
832 |
2.84e-41 |
SMART |
|
Pfam:RGS12_us1
|
836 |
953 |
4.3e-61 |
PFAM |
|
RBD
|
962 |
1032 |
3.12e-28 |
SMART |
|
RBD
|
1034 |
1104 |
2.44e-21 |
SMART |
|
Pfam:RGS12_us2
|
1106 |
1180 |
2.4e-37 |
PFAM |
|
GoLoco
|
1187 |
1209 |
9.74e-9 |
SMART |
|
Pfam:RGS12_usC
|
1238 |
1379 |
9.2e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114283
|
| SMART Domains |
Protein: ENSMUSP00000109922
Gene: ENSMUSG00000029101
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
39 |
N/A |
INTRINSIC |
|
RGS
|
57 |
174 |
2.84e-41 |
SMART |
|
low complexity region
|
191 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
210 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
270 |
N/A |
INTRINSIC |
|
RBD
|
304 |
374 |
3.12e-28 |
SMART |
|
RBD
|
376 |
446 |
2.44e-21 |
SMART |
|
GoLoco
|
529 |
551 |
9.74e-9 |
SMART |
|
low complexity region
|
601 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
634 |
650 |
N/A |
INTRINSIC |
|
low complexity region
|
697 |
729 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114285
|
| SMART Domains |
Protein: ENSMUSP00000109924
Gene: ENSMUSG00000029101
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
49 |
N/A |
INTRINSIC |
|
RGS
|
67 |
184 |
2.84e-41 |
SMART |
|
low complexity region
|
201 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
232 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
280 |
N/A |
INTRINSIC |
|
RBD
|
314 |
384 |
3.12e-28 |
SMART |
|
RBD
|
386 |
456 |
2.44e-21 |
SMART |
|
GoLoco
|
539 |
561 |
9.74e-9 |
SMART |
|
low complexity region
|
611 |
632 |
N/A |
INTRINSIC |
|
low complexity region
|
644 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
739 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150139
|
| SMART Domains |
Protein: ENSMUSP00000117158
Gene: ENSMUSG00000029101
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RBD
|
2 |
33 |
5e-13 |
BLAST |
|
Pfam:RGS12_us2
|
35 |
80 |
5.8e-13 |
PFAM |
|
| 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: ENSMUST00000202921
|
| 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 |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
T |
G |
5: 138,561,809 (GRCm39) |
T126P |
probably damaging |
Het |
| Asic2 |
T |
C |
11: 80,782,563 (GRCm39) |
|
probably benign |
Het |
| B430305J03Rik |
A |
G |
3: 61,271,562 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
A |
G |
3: 36,664,741 (GRCm39) |
F47L |
possibly damaging |
Het |
| Bcl2l14 |
G |
T |
6: 134,400,804 (GRCm39) |
G75V |
probably benign |
Het |
| Btnl4 |
T |
C |
17: 34,694,901 (GRCm39) |
H4R |
probably benign |
Het |
| Champ1 |
C |
A |
8: 13,928,739 (GRCm39) |
P299Q |
probably damaging |
Het |
| Cimap3 |
T |
A |
3: 105,921,820 (GRCm39) |
E34D |
probably benign |
Het |
| Cldnd2 |
A |
G |
7: 43,091,082 (GRCm39) |
K5E |
probably benign |
Het |
| Ctr9 |
T |
A |
7: 110,642,631 (GRCm39) |
L401* |
probably null |
Het |
| Cyp2c29 |
G |
A |
19: 39,279,291 (GRCm39) |
G96D |
possibly damaging |
Het |
| Enpp4 |
A |
T |
17: 44,412,315 (GRCm39) |
L298H |
probably damaging |
Het |
| Git1 |
T |
C |
11: 77,391,513 (GRCm39) |
C222R |
possibly damaging |
Het |
| Gpam |
T |
C |
19: 55,076,635 (GRCm39) |
T189A |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,991,162 (GRCm39) |
S2221T |
probably damaging |
Het |
| Ifi47 |
T |
C |
11: 48,986,604 (GRCm39) |
Y124H |
probably damaging |
Het |
| Il1a |
T |
C |
2: 129,148,575 (GRCm39) |
E45G |
probably damaging |
Het |
| Itga11 |
T |
A |
9: 62,642,635 (GRCm39) |
I186N |
probably damaging |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Mapk13 |
A |
G |
17: 28,995,387 (GRCm39) |
T203A |
probably damaging |
Het |
| Mrpl37 |
T |
A |
4: 106,923,839 (GRCm39) |
I52F |
probably damaging |
Het |
| Mtrex |
C |
T |
13: 113,027,881 (GRCm39) |
V660M |
probably damaging |
Het |
| Nr1i2 |
A |
G |
16: 38,069,654 (GRCm39) |
F417L |
probably benign |
Het |
| Or10ag59 |
T |
A |
2: 87,405,576 (GRCm39) |
S49R |
probably benign |
Het |
| Or6c215 |
G |
A |
10: 129,637,702 (GRCm39) |
Q231* |
probably null |
Het |
| Osbpl1a |
T |
C |
18: 13,047,550 (GRCm39) |
|
probably benign |
Het |
| Parg |
C |
T |
14: 31,964,186 (GRCm39) |
T112M |
probably damaging |
Het |
| Pou6f1 |
T |
C |
15: 100,477,821 (GRCm39) |
T166A |
possibly damaging |
Het |
| Prtg |
A |
G |
9: 72,764,281 (GRCm39) |
I585V |
possibly damaging |
Het |
| Ptpru |
T |
G |
4: 131,504,086 (GRCm39) |
|
probably benign |
Het |
| Rab6a |
T |
C |
7: 100,285,970 (GRCm39) |
|
probably null |
Het |
| Rnf207 |
C |
T |
4: 152,396,869 (GRCm39) |
R425H |
probably benign |
Het |
| Rusf1 |
A |
G |
7: 127,875,582 (GRCm39) |
L257P |
probably damaging |
Het |
| Slc27a2 |
A |
G |
2: 126,420,912 (GRCm39) |
M468V |
probably benign |
Het |
| Slc30a1 |
A |
G |
1: 191,639,441 (GRCm39) |
H108R |
possibly damaging |
Het |
| Sned1 |
A |
G |
1: 93,163,930 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
A |
T |
7: 27,065,014 (GRCm39) |
F2095Y |
probably null |
Het |
| Sspo |
A |
T |
6: 48,437,237 (GRCm39) |
|
probably benign |
Het |
| Tbx19 |
A |
G |
1: 164,967,740 (GRCm39) |
S336P |
probably benign |
Het |
| Tmem101 |
T |
A |
11: 102,044,119 (GRCm39) |
D256V |
probably damaging |
Het |
| Trbv20 |
T |
G |
6: 41,165,210 (GRCm39) |
L2V |
unknown |
Het |
| Trpc7 |
A |
G |
13: 56,970,274 (GRCm39) |
S382P |
probably damaging |
Het |
| Tut4 |
C |
A |
4: 108,386,473 (GRCm39) |
Y1114* |
probably null |
Het |
| Uhmk1 |
T |
C |
1: 170,040,095 (GRCm39) |
T91A |
possibly damaging |
Het |
| Vmn2r10 |
T |
A |
5: 109,143,788 (GRCm39) |
R721* |
probably null |
Het |
| Vmn2r94 |
T |
A |
17: 18,478,453 (GRCm39) |
Y98F |
possibly damaging |
Het |
| Zfp532 |
A |
G |
18: 65,756,672 (GRCm39) |
R202G |
probably damaging |
Het |
| Zfp827 |
T |
C |
8: 79,787,601 (GRCm39) |
S256P |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,792,214 (GRCm39) |
I2266T |
probably 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 |
|
|
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 |
|
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