Incidental Mutation 'IGL02405:Hgfac'
| ID |
292026 |
| 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: 0.071)
|
| Stock # |
IGL02405
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
35198853-35205805 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35201824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 319
(D319G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030985]
[ENSMUST00000087684]
[ENSMUST00000114283]
[ENSMUST00000114285]
[ENSMUST00000202573]
|
| AlphaFold |
Q9R098 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030985
AA Change: D319G
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000030985
Gene: ENSMUSG00000029102
AA Change: D319G
| 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 |
unknown
Transcript: ENSMUST00000202921
AA Change: D44G
|
| 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 |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,498,036 (GRCm39) |
S1434P |
possibly damaging |
Het |
| Abcc12 |
G |
T |
8: 87,284,782 (GRCm39) |
Q278K |
probably damaging |
Het |
| Adk |
A |
G |
14: 21,153,899 (GRCm39) |
K48R |
probably benign |
Het |
| Atp8b3 |
C |
T |
10: 80,366,462 (GRCm39) |
G267D |
probably damaging |
Het |
| Bpifa6 |
T |
A |
2: 153,832,782 (GRCm39) |
L299* |
probably null |
Het |
| Cblb |
G |
A |
16: 51,986,616 (GRCm39) |
A620T |
probably benign |
Het |
| Cep128 |
C |
T |
12: 91,233,760 (GRCm39) |
R436H |
probably benign |
Het |
| Chd4 |
A |
G |
6: 125,074,190 (GRCm39) |
D21G |
probably benign |
Het |
| Cnksr1 |
T |
C |
4: 133,963,592 (GRCm39) |
D30G |
possibly damaging |
Het |
| Crybb2 |
A |
G |
5: 113,206,374 (GRCm39) |
Y154H |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,562,979 (GRCm39) |
|
probably null |
Het |
| Eri2 |
T |
C |
7: 119,384,705 (GRCm39) |
R599G |
probably damaging |
Het |
| Fcrl1 |
A |
C |
3: 87,293,074 (GRCm39) |
K244Q |
probably damaging |
Het |
| Gm11992 |
A |
G |
11: 9,009,939 (GRCm39) |
N179S |
probably benign |
Het |
| Irf5 |
G |
A |
6: 29,535,760 (GRCm39) |
R258H |
probably damaging |
Het |
| Mecr |
G |
A |
4: 131,590,303 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
G |
11: 59,023,428 (GRCm39) |
K650Q |
probably damaging |
Het |
| Or5b98 |
A |
G |
19: 12,931,823 (GRCm39) |
Y290C |
probably damaging |
Het |
| Pde4d |
T |
C |
13: 108,996,743 (GRCm39) |
|
probably null |
Het |
| Saxo4 |
G |
A |
19: 10,451,930 (GRCm39) |
T406I |
probably damaging |
Het |
| Serpinh1 |
A |
G |
7: 98,996,541 (GRCm39) |
M217T |
possibly damaging |
Het |
| Setbp1 |
A |
T |
18: 78,900,514 (GRCm39) |
M1051K |
probably damaging |
Het |
| Slc43a3 |
A |
G |
2: 84,768,585 (GRCm39) |
E68G |
probably damaging |
Het |
| Supt5 |
T |
C |
7: 28,015,249 (GRCm39) |
N969D |
probably benign |
Het |
| Taf2 |
A |
T |
15: 54,897,551 (GRCm39) |
|
probably benign |
Het |
| Tlr2 |
A |
G |
3: 83,743,981 (GRCm39) |
F701L |
probably damaging |
Het |
| Trim46 |
T |
C |
3: 89,149,792 (GRCm39) |
T222A |
probably benign |
Het |
| Tshz3 |
A |
T |
7: 36,469,075 (GRCm39) |
N355Y |
possibly damaging |
Het |
| Vmn2r3 |
A |
G |
3: 64,178,620 (GRCm39) |
|
probably benign |
Het |
| Xkr9 |
A |
T |
1: 13,742,997 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 109,682,374 (GRCm39) |
A3271V |
unknown |
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 |
|
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