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: 0.071) question?
Stock # IGL02133
Quality Score
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

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

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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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