Incidental Mutation 'IGL01999:Hgfac'
ID |
182150 |
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 # |
IGL01999
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
35198853-35205805 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35202155 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 352
(N352S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030985
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030985]
[ENSMUST00000202573]
|
AlphaFold |
Q9R098 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030985
AA Change: N352S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000030985 Gene: ENSMUSG00000029102 AA Change: N352S
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: N77S
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cabs1 |
C |
T |
5: 88,127,787 (GRCm39) |
T146I |
possibly damaging |
Het |
Cfap161 |
C |
T |
7: 83,440,899 (GRCm39) |
V118M |
probably damaging |
Het |
Cfap95 |
C |
A |
19: 23,569,529 (GRCm39) |
L130F |
possibly damaging |
Het |
Chrna7 |
T |
C |
7: 62,753,539 (GRCm39) |
M327V |
probably damaging |
Het |
Ddx18 |
A |
G |
1: 121,489,457 (GRCm39) |
I228T |
probably benign |
Het |
Dnhd1 |
T |
A |
7: 105,370,422 (GRCm39) |
S4616T |
possibly damaging |
Het |
Dsp |
T |
A |
13: 38,365,162 (GRCm39) |
M515K |
probably damaging |
Het |
Dysf |
C |
T |
6: 84,090,600 (GRCm39) |
P1002L |
probably damaging |
Het |
Exoc7 |
T |
C |
11: 116,191,926 (GRCm39) |
|
probably null |
Het |
Gria2 |
G |
A |
3: 80,639,398 (GRCm39) |
R205W |
probably damaging |
Het |
Hacd2 |
T |
C |
16: 34,869,083 (GRCm39) |
|
probably benign |
Het |
Helz |
G |
T |
11: 107,493,754 (GRCm39) |
|
probably benign |
Het |
Mfsd11 |
T |
A |
11: 116,752,411 (GRCm39) |
F135I |
probably damaging |
Het |
Mtmr10 |
A |
G |
7: 63,987,460 (GRCm39) |
N667D |
probably benign |
Het |
Mtmr9 |
A |
C |
14: 63,779,903 (GRCm39) |
F62C |
probably damaging |
Het |
Nelfcd |
T |
C |
2: 174,265,308 (GRCm39) |
|
probably benign |
Het |
Nfasc |
A |
G |
1: 132,532,985 (GRCm39) |
|
probably benign |
Het |
Npnt |
C |
T |
3: 132,614,160 (GRCm39) |
R150Q |
probably damaging |
Het |
Or5b108 |
G |
A |
19: 13,168,924 (GRCm39) |
A298T |
probably damaging |
Het |
Or5p55 |
C |
T |
7: 107,566,675 (GRCm39) |
R24C |
probably benign |
Het |
Or6b13 |
C |
T |
7: 139,782,345 (GRCm39) |
E113K |
probably damaging |
Het |
Pcdhb2 |
C |
T |
18: 37,429,890 (GRCm39) |
A621V |
probably damaging |
Het |
Pkd1l1 |
C |
A |
11: 8,786,291 (GRCm39) |
W1921L |
probably benign |
Het |
Plcb1 |
G |
A |
2: 135,188,238 (GRCm39) |
R777Q |
probably damaging |
Het |
Plch1 |
G |
A |
3: 63,660,728 (GRCm39) |
P297L |
probably damaging |
Het |
Ppp2r2b |
T |
C |
18: 42,778,788 (GRCm39) |
|
probably benign |
Het |
Ppp6r2 |
A |
G |
15: 89,154,155 (GRCm39) |
D372G |
probably benign |
Het |
Rtn4r |
A |
G |
16: 17,969,321 (GRCm39) |
R250G |
possibly damaging |
Het |
Sec61a2 |
A |
G |
2: 5,896,174 (GRCm39) |
|
probably benign |
Het |
Sema3g |
G |
T |
14: 30,939,922 (GRCm39) |
V19L |
probably benign |
Het |
Sult2a7 |
T |
C |
7: 14,225,648 (GRCm39) |
T113A |
probably benign |
Het |
Tcp11l1 |
T |
C |
2: 104,528,914 (GRCm39) |
D128G |
possibly damaging |
Het |
Tln2 |
C |
T |
9: 67,299,787 (GRCm39) |
R155Q |
possibly damaging |
Het |
Vcan |
A |
G |
13: 89,832,557 (GRCm39) |
L2150P |
probably damaging |
Het |
Vmn1r40 |
A |
C |
6: 89,691,948 (GRCm39) |
N255T |
probably benign |
Het |
Vmn2r68 |
T |
C |
7: 84,871,439 (GRCm39) |
N615D |
probably damaging |
Het |
Zdhhc25 |
A |
G |
15: 88,485,217 (GRCm39) |
E184G |
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 |
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 |
2014-05-07 |