Mutagenetix > Incidental Mutation

Incidental Mutation 'R7232:Hgfac'

562539

Institutional Source

Beutler Lab

Gene Symbol

Hgfac

Ensembl Gene

ENSMUSG00000029102

Gene Name

hepatocyte growth factor activator

Synonyms

HGFA

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7232 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35041509-35048461 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 35046914 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 507 (R507L)

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: R507L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030985
Gene: ENSMUSG00000029102
AA Change: R507L

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

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

Meta Mutation Damage Score

0.1393

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	A	T	19: 5,503,631	S41T	possibly damaging	Het
4930433I11Rik	G	A	7: 40,993,179	G91S	probably damaging	Het
Adam21	T	G	12: 81,560,556	N144T	probably damaging	Het
Adgrg7	T	C	16: 56,777,152		probably null	Het
Angpt4	T	C	2: 151,929,540	S259P	possibly damaging	Het
Aqr	A	C	2: 114,105,882	L1320R	probably damaging	Het
Arhgef10	G	A	8: 14,940,323	G266D	probably benign	Het
Bop1	A	G	15: 76,453,346	V693A	probably damaging	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Cdc5l	A	G	17: 45,427,937		probably null	Het
Cfap46	C	A	7: 139,617,577	R2126L	unknown	Het
Chek2	T	C	5: 110,860,915	V304A	probably damaging	Het
Cntnap4	T	A	8: 112,665,099		probably null	Het
Ctps	C	A	4: 120,548,124	G374C	probably damaging	Het
Defa27	A	T	8: 21,315,609	I22F	probably damaging	Het
Dnah14	T	C	1: 181,757,363	S3220P	probably damaging	Het
Dopey2	T	G	16: 93,760,485		probably null	Het
Dpysl5	G	A	5: 30,792,298	V471I	probably benign	Het
Duoxa1	T	A	2: 122,305,247	I124F	probably damaging	Het
Eif4enif1	A	G	11: 3,215,678	E85G	possibly damaging	Het
Eogt	T	A	6: 97,119,983	I355F	probably damaging	Het
Epha7	T	A	4: 28,951,279	V800E	probably damaging	Het
Evi5l	A	G	8: 4,205,906	Q633R	possibly damaging	Het
Fam170a	T	C	18: 50,281,661	Y125H	probably damaging	Het
Fbxo15	T	C	18: 84,962,622	Y241H	probably damaging	Het
Gbe1	T	C	16: 70,436,940	I235T	possibly damaging	Het
Gfra3	C	T	18: 34,711,181	R102Q	probably damaging	Het
Gjd4	C	T	18: 9,280,380	G233S	probably damaging	Het
Gm29106	C	T	1: 118,199,561	P328S	probably damaging	Het
Jakmip3	A	G	7: 139,007,626	K153R	probably benign	Het
Kcnc1	T	A	7: 46,427,959	V395E	probably damaging	Het
Krt6b	T	C	15: 101,678,142	D304G	probably damaging	Het
Ldha	T	C	7: 46,850,899	Y174H	probably benign	Het
Lgi4	G	A	7: 31,067,351	V268M	possibly damaging	Het
Lpar3	T	G	3: 146,241,306		probably null	Het
Lrp3	T	C	7: 35,206,052	D103G	probably damaging	Het
March5	G	A	19: 37,217,314		probably null	Het
Muc5b	A	T	7: 141,866,129	H4115L	possibly damaging	Het
Myh13	G	A	11: 67,348,846	D741N	probably damaging	Het
Naglu	A	T	11: 101,076,426	I401F	probably damaging	Het
Ncam2	T	A	16: 81,512,871	N416K	probably damaging	Het
Ncan	A	G	8: 70,112,088	L292S	probably damaging	Het
Nkiras1	T	C	14: 18,276,732	V7A	probably damaging	Het
Nlrp4c	T	A	7: 6,065,709	L203*	probably null	Het
Olfr714	T	A	7: 107,073,855	I9K	probably benign	Het
Onecut2	T	A	18: 64,341,562	W395R	probably damaging	Het
Pak6	T	A	2: 118,693,522	V386E	probably damaging	Het
Pias2	A	G	18: 77,133,235	S396G	probably benign	Het
Plxna2	T	A	1: 194,712,260	L483H	probably damaging	Het
Prss36	G	T	7: 127,935,591	R484S	probably benign	Het
Ptpn21	A	T	12: 98,688,737	V657E	probably benign	Het
Rassf2	T	C	2: 131,996,412	E318G	probably damaging	Het
Rp1	A	C	1: 4,228,601	S623A	unknown	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Scn11a	T	A	9: 119,759,916	E1308V	probably damaging	Het
Serpina3c	A	T	12: 104,149,512	S258T	possibly damaging	Het
Slit3	A	G	11: 35,610,689	T417A	possibly damaging	Het
Sostdc1	C	A	12: 36,317,311	A162E	possibly damaging	Het
Sox13	A	T	1: 133,384,391		probably null	Het
Sox8	G	T	17: 25,567,540	S396R	probably benign	Het
Sult2a3	A	T	7: 14,082,760	F164L	possibly damaging	Het
Susd2	T	C	10: 75,639,851	Y438C	probably damaging	Het
Tas2r106	T	G	6: 131,678,847	T14P	probably damaging	Het
Tcf25	T	A	8: 123,401,061		probably null	Het
Tenm3	G	A	8: 48,235,935	R2206W	probably damaging	Het
Tep1	A	G	14: 50,844,332	L471P	unknown	Het
Ticrr	A	T	7: 79,693,742	K1118N	probably damaging	Het
Tlr5	G	A	1: 182,973,499	E123K	probably benign	Het
Ttn	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	2: 76,915,806		probably benign	Het
U2surp	A	G	9: 95,493,717	V141A	probably benign	Het
Unc79	T	A	12: 103,134,475	S2050T	possibly damaging	Het
Usp13	A	G	3: 32,865,871	D235G	probably benign	Het
Vcam1	T	C	3: 116,125,979	T213A	possibly damaging	Het
Vmn2r60	T	A	7: 42,136,742	I323N	possibly damaging	Het
Vps13b	A	G	15: 35,877,557	I2892M	probably damaging	Het
Wnt5a	T	A	14: 28,518,372	S160T	probably benign	Het
Zar1	G	A	5: 72,580,951	P36L	possibly damaging	Het
Zfp773	A	T	7: 7,132,985	M204K	probably benign	Het
Zhx1	T	C	15: 58,053,069	T594A	probably benign	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
IGL02133:Hgfac	APN	5	35046587	missense	probably damaging	1.00
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
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
R9254:Hgfac	UTSW	5	35044789	missense	probably damaging	1.00
R9730:Hgfac	UTSW	5	35046938	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGAAATCTTGTTGCCCTTCC -3'
(R):5'- GAGTTGGAGTAGCTGCTCAC -3'

Sequencing Primer
(F):5'- GAAATCTTGTTGCCCTTCCTCTGG -3'
(R):5'- AGCTGCTCACATCTGTGGAG -3'

Posted On

2019-06-26