Incidental Mutation 'R0664:Hgfac'
ID |
61942 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hgfac
|
Ensembl Gene |
ENSMUSG00000029102 |
Gene Name |
hepatocyte growth factor activator |
Synonyms |
HGFA |
MMRRC Submission |
038849-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R0664 (G1)
|
Quality Score |
185 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
35198853-35205805 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 35205522 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 601
(V601F)
|
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: V601F
PolyPhen 2
Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000030985 Gene: ENSMUSG00000029102 AA Change: V601F
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 |
probably benign
Transcript: ENSMUST00000202921
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
Validation Efficiency |
98% (40/41) |
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
A530064D06Rik |
T |
C |
17: 48,473,759 (GRCm39) |
I53V |
probably benign |
Het |
Abtb3 |
G |
A |
10: 85,224,234 (GRCm39) |
A348T |
possibly damaging |
Het |
Agmo |
A |
T |
12: 37,302,571 (GRCm39) |
H136L |
probably damaging |
Het |
B020004C17Rik |
G |
A |
14: 57,254,225 (GRCm39) |
R116H |
possibly damaging |
Het |
Cacna1b |
A |
G |
2: 24,544,458 (GRCm39) |
S1243P |
probably damaging |
Het |
Champ1 |
G |
A |
8: 13,929,485 (GRCm39) |
V548M |
probably damaging |
Het |
Dnah7b |
A |
T |
1: 46,364,002 (GRCm39) |
M3541L |
probably damaging |
Het |
Emc9 |
A |
G |
14: 55,819,365 (GRCm39) |
L138P |
possibly damaging |
Het |
Epcam |
T |
A |
17: 87,947,398 (GRCm39) |
Y51N |
possibly damaging |
Het |
Gpr55 |
A |
T |
1: 85,868,739 (GRCm39) |
S281T |
probably benign |
Het |
Grid2ip |
T |
A |
5: 143,349,732 (GRCm39) |
|
probably null |
Het |
Hlcs |
A |
G |
16: 94,032,170 (GRCm39) |
W545R |
probably damaging |
Het |
Hsd17b2 |
T |
C |
8: 118,485,440 (GRCm39) |
V301A |
possibly damaging |
Het |
Ipo8 |
A |
T |
6: 148,701,711 (GRCm39) |
L466I |
probably benign |
Het |
Jcad |
A |
G |
18: 4,676,063 (GRCm39) |
D1275G |
probably damaging |
Het |
Mdn1 |
G |
T |
4: 32,768,011 (GRCm39) |
E5315* |
probably null |
Het |
Nfam1 |
T |
C |
15: 82,899,139 (GRCm39) |
T176A |
probably damaging |
Het |
Nsd3 |
T |
C |
8: 26,204,267 (GRCm39) |
F432S |
probably damaging |
Het |
Or4c31 |
C |
T |
2: 88,292,515 (GRCm39) |
P296L |
probably damaging |
Het |
Prmt5 |
G |
T |
14: 54,745,313 (GRCm39) |
T618K |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Serpinb7 |
A |
G |
1: 107,356,037 (GRCm39) |
D20G |
probably damaging |
Het |
Slco1a4 |
T |
C |
6: 141,758,467 (GRCm39) |
I515V |
probably benign |
Het |
Stk26 |
T |
A |
X: 49,976,803 (GRCm39) |
Y283* |
probably null |
Het |
Tanc1 |
A |
T |
2: 59,674,228 (GRCm39) |
K1778* |
probably null |
Het |
Thada |
A |
G |
17: 84,644,257 (GRCm39) |
L1288P |
probably damaging |
Het |
Ttbk2 |
C |
A |
2: 120,579,302 (GRCm39) |
V607F |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAAAATCCTGTGAGCACCAGAGAC -3'
(R):5'- AGCTTGGACACAAAGAGCTGCC -3'
Sequencing Primer
(F):5'- TGTGAGCACCAGAGACTCTTG -3'
(R):5'- AGGGGTACTATGAGCATCCCTTC -3'
|
Posted On |
2013-07-30 |