Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02133:Hgfac'

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

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL02133

Quality Score

Status

Chromosome

Chromosomal Location

35041509-35048461 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35046587 bp

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]

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

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: 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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	T	A	14: 49,232,967	Q165L	probably benign	Het
9530068E07Rik	G	T	11: 52,403,510	A193S	probably damaging	Het
Adam4	A	G	12: 81,420,029	V606A	probably benign	Het
Atp2c2	A	G	8: 119,754,335	I821V	probably benign	Het
Bmi1	A	T	2: 18,683,677	R160W	probably damaging	Het
Ccdc88c	G	A	12: 100,940,090	R1062C	probably damaging	Het
Cntnap3	A	T	13: 64,751,673		probably benign	Het
Col20a1	C	T	2: 181,007,144	T940I	probably damaging	Het
Csmd3	A	C	15: 47,857,942	M1535R	possibly damaging	Het
Dhx38	C	A	8: 109,558,241	E487*	probably null	Het
Fam186b	A	G	15: 99,273,703	S888P	probably damaging	Het
Fancm	G	A	12: 65,106,475	G1235D	probably benign	Het
Grin3a	C	T	4: 49,792,946	W262*	probably null	Het
Gtdc1	A	T	2: 44,575,443	M305K	probably damaging	Het
H2-M9	T	C	17: 36,641,737	E139G	possibly damaging	Het
Haus1	A	T	18: 77,766,911	L53Q	probably damaging	Het
Hipk2	C	T	6: 38,819,134	V67I	probably benign	Het
Kbtbd8	T	C	6: 95,121,732		probably benign	Het
Kndc1	A	G	7: 139,920,767	T683A	probably benign	Het
Ldhb	A	T	6: 142,492,500	M277K	probably benign	Het
Mgam	T	C	6: 40,643,076	L33P	probably damaging	Het
Ndst1	A	G	18: 60,699,546	F571L	probably benign	Het
Neb	G	T	2: 52,212,804		probably null	Het
Nrxn1	A	G	17: 90,643,243	S503P	probably damaging	Het
Paqr3	A	G	5: 97,095,931	V308A	probably benign	Het
Scnn1g	T	C	7: 121,743,699	F292L	probably damaging	Het
Stk3	A	G	15: 35,099,516	F88S	probably damaging	Het
Tcaf2	T	A	6: 42,627,396	E683V	probably benign	Het
Tprkb	T	C	6: 85,927,911	V123A	probably benign	Het
Ush2a	T	C	1: 188,443,343	Y1213H	probably damaging	Het
Vwa5b1	A	G	4: 138,586,557		probably null	Het
Wls	A	G	3: 159,897,370	Y140C	probably damaging	Het
Zan	A	G	5: 137,411,498	S28P	possibly damaging	Het

Other mutations in Hgfac

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Hgfac	APN	5	35046526	missense	probably damaging	1.00
IGL01999:Hgfac	APN	5	35044811	missense	probably benign
IGL02314:Hgfac	APN	5	35041597	start codon destroyed	probably benign	0.21
IGL02337:Hgfac	APN	5	35042378	missense	probably benign	0.00
IGL02405:Hgfac	APN	5	35044480	missense	probably benign	0.19
IGL02451:Hgfac	APN	5	35043814	splice site	probably null
IGL02508:Hgfac	APN	5	35047220	missense	probably damaging	1.00
IGL02584:Hgfac	APN	5	35043961	unclassified	probably benign
IGL02986:Hgfac	APN	5	35043863	missense	probably benign	0.00
R0506:Hgfac	UTSW	5	35044240	missense	probably damaging	1.00
R0664:Hgfac	UTSW	5	35048178	missense	probably benign	0.34
R1733:Hgfac	UTSW	5	35043674	missense	probably damaging	1.00
R1775:Hgfac	UTSW	5	35042850	unclassified	probably benign
R1871:Hgfac	UTSW	5	35042913	makesense	probably null
R3826:Hgfac	UTSW	5	35048162	missense	probably damaging	1.00
R4553:Hgfac	UTSW	5	35042856	missense	probably damaging	0.97
R5888:Hgfac	UTSW	5	35045407	missense	probably damaging	1.00
R5905:Hgfac	UTSW	5	35042362	missense	probably benign	0.20
R6017:Hgfac	UTSW	5	35044395	missense	probably damaging	1.00
R6056:Hgfac	UTSW	5	35041629	nonsense	probably null
R6124:Hgfac	UTSW	5	35044384	missense	probably benign	0.06
R7059:Hgfac	UTSW	5	35044429	missense	possibly damaging	0.49
R7232:Hgfac	UTSW	5	35046914	missense	probably damaging	1.00
R7555:Hgfac	UTSW	5	35042628	missense	probably damaging	0.96
R8367:Hgfac	UTSW	5	35045446	missense	probably damaging	1.00
R8371:Hgfac	UTSW	5	35045443	missense	probably damaging	1.00

Posted On

2015-04-16