Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02508:Hgfac'

296457

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) question?

Stock #

IGL02508

Quality Score

Status

Chromosome

Chromosomal Location

35198853-35205805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35204564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 579 (M579L)

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: M579L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000030985
Gene: ENSMUSG00000029102
AA Change: M579L

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

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061I17Rik	T	A	3: 116,870,764 (GRCm39)		noncoding transcript	Het
Adgrv1	A	T	13: 81,583,675 (GRCm39)		probably benign	Het
AI429214	T	G	8: 37,461,240 (GRCm39)	D129E	probably benign	Het
Alx1	G	A	10: 102,858,054 (GRCm39)	T215M	probably damaging	Het
Arhgap39	A	G	15: 76,609,184 (GRCm39)	*1079Q	probably null	Het
Brca2	T	C	5: 150,466,773 (GRCm39)	V2179A	possibly damaging	Het
Cdcp3	A	G	7: 130,824,559 (GRCm39)	E91G	probably damaging	Het
Celsr1	G	A	15: 85,914,818 (GRCm39)	Q1052*	probably null	Het
Chd5	A	G	4: 152,447,481 (GRCm39)	E510G	probably damaging	Het
Cntnap2	A	G	6: 46,211,254 (GRCm39)	D556G	probably damaging	Het
Cux2	G	A	5: 121,998,885 (GRCm39)	P1352S	possibly damaging	Het
Cyp4a31	A	T	4: 115,428,261 (GRCm39)	Y319F	probably damaging	Het
Dcaf12	C	T	4: 41,296,310 (GRCm39)		probably null	Het
Dcc	C	A	18: 71,503,773 (GRCm39)	A942S	probably benign	Het
Dyrk1a	A	T	16: 94,486,042 (GRCm39)	D463V	probably damaging	Het
Eln	T	A	5: 134,733,422 (GRCm39)		probably benign	Het
Fbxl13	A	G	5: 21,761,803 (GRCm39)		probably null	Het
Fndc3b	T	C	3: 27,512,900 (GRCm39)	Y742C	probably damaging	Het
Furin	G	A	7: 80,042,269 (GRCm39)	T442I	probably benign	Het
Gli1	T	C	10: 127,172,961 (GRCm39)	Q155R	probably benign	Het
Glra3	A	G	8: 56,538,179 (GRCm39)	E218G	probably benign	Het
Grb10	C	T	11: 11,896,767 (GRCm39)	V236M	probably damaging	Het
Grhl2	T	C	15: 37,310,009 (GRCm39)		probably benign	Het
Ifi202b	A	T	1: 173,802,338 (GRCm39)	D165E	probably benign	Het
Klhl26	A	T	8: 70,905,381 (GRCm39)	D95E	probably damaging	Het
Klk12	T	C	7: 43,419,113 (GRCm39)	V26A	probably benign	Het
Lrp2	C	T	2: 69,333,774 (GRCm39)	G1489D	probably benign	Het
Lrrtm1	A	T	6: 77,221,574 (GRCm39)	S344C	probably damaging	Het
Lzts1	G	A	8: 69,593,500 (GRCm39)	R36*	probably null	Het
Mapkap1	T	C	2: 34,408,681 (GRCm39)		probably benign	Het
Meis3	T	A	7: 15,912,722 (GRCm39)		probably null	Het
Mtmr14	T	A	6: 113,217,267 (GRCm39)	C60S	probably damaging	Het
Nfkb1	T	A	3: 135,296,579 (GRCm39)	Y789F	probably damaging	Het
Nup54	G	A	5: 92,565,398 (GRCm39)	Q440*	probably null	Het
Ogdhl	T	G	14: 32,067,131 (GRCm39)	M861R	probably damaging	Het
Or13c7b	T	C	4: 43,821,289 (GRCm39)	E24G	possibly damaging	Het
Or4d10	G	T	19: 12,051,251 (GRCm39)	H248Q	possibly damaging	Het
Or4k42	C	T	2: 111,320,180 (GRCm39)	A108T	probably damaging	Het
Or52w1	A	T	7: 105,017,743 (GRCm39)	H61L	possibly damaging	Het
Or6c69b	A	G	10: 129,626,660 (GRCm39)	V266A	probably benign	Het
Pde6c	A	G	19: 38,145,948 (GRCm39)	K412R	probably benign	Het
Pex5l	T	C	3: 33,047,051 (GRCm39)		probably benign	Het
Pigr	A	T	1: 130,778,595 (GRCm39)	I760L	probably benign	Het
Pramel28	T	C	4: 143,691,590 (GRCm39)	N378D	probably benign	Het
Prr14l	G	A	5: 32,988,286 (GRCm39)	A403V	probably benign	Het
Prrt3	T	C	6: 113,471,268 (GRCm39)	D968G	probably damaging	Het
Psmc5	T	C	11: 106,153,869 (GRCm39)	I401T	possibly damaging	Het
Ralyl	T	A	3: 14,172,332 (GRCm39)		probably benign	Het
Samd9l	T	C	6: 3,374,798 (GRCm39)	E821G	probably damaging	Het
Serpinb3a	T	A	1: 106,973,802 (GRCm39)	I370F	probably damaging	Het
Setd1a	A	G	7: 127,396,870 (GRCm39)		probably benign	Het
Slco2a1	T	A	9: 102,951,615 (GRCm39)	F381L	probably benign	Het
Strada	A	G	11: 106,059,182 (GRCm39)	Y199H	probably benign	Het
Stxbp2	T	C	8: 3,682,531 (GRCm39)	I40T	probably damaging	Het
Tbx3	T	C	5: 119,816,877 (GRCm39)	V358A	possibly damaging	Het
Tenm3	A	G	8: 48,752,674 (GRCm39)	L896S	probably benign	Het
Tmem132a	A	G	19: 10,835,882 (GRCm39)	S883P	probably damaging	Het
Trio	A	G	15: 27,818,190 (GRCm39)	I496T	possibly damaging	Het
Unc79	C	T	12: 103,078,535 (GRCm39)	R1548W	probably damaging	Het
Unc79	T	C	12: 103,078,277 (GRCm39)		probably benign	Het
Vmn2r9	T	C	5: 108,996,067 (GRCm39)	M194V	possibly 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
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