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

045303-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R7232 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35198853-35205805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 35204258 bp (GRCm39)

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
4930433I11Rik	G	A	7: 40,642,603 (GRCm39)	G91S	probably damaging	Het
Adam21	T	G	12: 81,607,330 (GRCm39)	N144T	probably damaging	Het
Adgrg7	T	C	16: 56,597,515 (GRCm39)		probably null	Het
Angpt4	T	C	2: 151,771,460 (GRCm39)	S259P	possibly damaging	Het
Aqr	A	C	2: 113,936,363 (GRCm39)	L1320R	probably damaging	Het
Arhgef10	G	A	8: 14,990,323 (GRCm39)	G266D	probably benign	Het
Bop1	A	G	15: 76,337,546 (GRCm39)	V693A	probably damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdc5l	A	G	17: 45,738,863 (GRCm39)		probably null	Het
Cfap46	C	A	7: 139,197,493 (GRCm39)	R2126L	unknown	Het
Chek2	T	C	5: 111,008,781 (GRCm39)	V304A	probably damaging	Het
Cntnap4	T	A	8: 113,391,731 (GRCm39)		probably null	Het
Ctps1	C	A	4: 120,405,321 (GRCm39)	G374C	probably damaging	Het
Defa27	A	T	8: 21,805,625 (GRCm39)	I22F	probably damaging	Het
Dnah14	T	C	1: 181,584,928 (GRCm39)	S3220P	probably damaging	Het
Dop1b	T	G	16: 93,557,373 (GRCm39)		probably null	Het
Dpysl5	G	A	5: 30,949,642 (GRCm39)	V471I	probably benign	Het
Duoxa1	T	A	2: 122,135,728 (GRCm39)	I124F	probably damaging	Het
Eif4enif1	A	G	11: 3,165,678 (GRCm39)	E85G	possibly damaging	Het
Eogt	T	A	6: 97,096,944 (GRCm39)	I355F	probably damaging	Het
Epha7	T	A	4: 28,951,279 (GRCm39)	V800E	probably damaging	Het
Evi5l	A	G	8: 4,255,906 (GRCm39)	Q633R	possibly damaging	Het
Fam170a	T	C	18: 50,414,728 (GRCm39)	Y125H	probably damaging	Het
Fbxo15	T	C	18: 84,980,747 (GRCm39)	Y241H	probably damaging	Het
Gbe1	T	C	16: 70,233,828 (GRCm39)	I235T	possibly damaging	Het
Gfra3	C	T	18: 34,844,234 (GRCm39)	R102Q	probably damaging	Het
Gjd4	C	T	18: 9,280,380 (GRCm39)	G233S	probably damaging	Het
Gm29106	C	T	1: 118,127,291 (GRCm39)	P328S	probably damaging	Het
Jakmip3	A	G	7: 138,609,355 (GRCm39)	K153R	probably benign	Het
Kcnc1	T	A	7: 46,077,383 (GRCm39)	V395E	probably damaging	Het
Krt6b	T	C	15: 101,586,577 (GRCm39)	D304G	probably damaging	Het
Ldha	T	C	7: 46,500,323 (GRCm39)	Y174H	probably benign	Het
Lgi4	G	A	7: 30,766,776 (GRCm39)	V268M	possibly damaging	Het
Lpar3	T	G	3: 145,947,061 (GRCm39)		probably null	Het
Lrp3	T	C	7: 34,905,477 (GRCm39)	D103G	probably damaging	Het
Marchf5	G	A	19: 37,194,713 (GRCm39)		probably null	Het
Muc5b	A	T	7: 141,419,866 (GRCm39)	H4115L	possibly damaging	Het
Myh13	G	A	11: 67,239,672 (GRCm39)	D741N	probably damaging	Het
Naglu	A	T	11: 100,967,252 (GRCm39)	I401F	probably damaging	Het
Ncam2	T	A	16: 81,309,759 (GRCm39)	N416K	probably damaging	Het
Ncan	A	G	8: 70,564,738 (GRCm39)	L292S	probably damaging	Het
Nkiras1	T	C	14: 18,276,732 (GRCm38)	V7A	probably damaging	Het
Nlrp4c	T	A	7: 6,068,708 (GRCm39)	L203*	probably null	Het
Nscme3l	A	T	19: 5,553,659 (GRCm39)	S41T	possibly damaging	Het
Onecut2	T	A	18: 64,474,633 (GRCm39)	W395R	probably damaging	Het
Or10a2	T	A	7: 106,673,062 (GRCm39)	I9K	probably benign	Het
Pak6	T	A	2: 118,524,003 (GRCm39)	V386E	probably damaging	Het
Pias2	A	G	18: 77,220,931 (GRCm39)	S396G	probably benign	Het
Plxna2	T	A	1: 194,394,568 (GRCm39)	L483H	probably damaging	Het
Prss36	G	T	7: 127,534,763 (GRCm39)	R484S	probably benign	Het
Ptpn21	A	T	12: 98,654,996 (GRCm39)	V657E	probably benign	Het
Rassf2	T	C	2: 131,838,332 (GRCm39)	E318G	probably damaging	Het
Rp1	A	C	1: 4,298,824 (GRCm39)	S623A	unknown	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scn11a	T	A	9: 119,588,982 (GRCm39)	E1308V	probably damaging	Het
Serpina3c	A	T	12: 104,115,771 (GRCm39)	S258T	possibly damaging	Het
Slit3	A	G	11: 35,501,516 (GRCm39)	T417A	possibly damaging	Het
Sostdc1	C	A	12: 36,367,310 (GRCm39)	A162E	possibly damaging	Het
Sox13	A	T	1: 133,312,129 (GRCm39)		probably null	Het
Sox8	G	T	17: 25,786,514 (GRCm39)	S396R	probably benign	Het
Sult2a3	A	T	7: 13,816,685 (GRCm39)	F164L	possibly damaging	Het
Susd2	T	C	10: 75,475,685 (GRCm39)	Y438C	probably damaging	Het
Tas2r106	T	G	6: 131,655,810 (GRCm39)	T14P	probably damaging	Het
Tcf25	T	A	8: 124,127,800 (GRCm39)		probably null	Het
Tenm3	G	A	8: 48,688,970 (GRCm39)	R2206W	probably damaging	Het
Tep1	A	G	14: 51,081,789 (GRCm39)	L471P	unknown	Het
Ticrr	A	T	7: 79,343,490 (GRCm39)	K1118N	probably damaging	Het
Tlr5	G	A	1: 182,801,064 (GRCm39)	E123K	probably benign	Het
Ttn	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	2: 76,746,150 (GRCm39)		probably benign	Het
U2surp	A	G	9: 95,375,770 (GRCm39)	V141A	probably benign	Het
Unc79	T	A	12: 103,100,734 (GRCm39)	S2050T	possibly damaging	Het
Usp13	A	G	3: 32,920,020 (GRCm39)	D235G	probably benign	Het
Vcam1	T	C	3: 115,919,628 (GRCm39)	T213A	possibly damaging	Het
Vmn2r60	T	A	7: 41,786,166 (GRCm39)	I323N	possibly damaging	Het
Vps13b	A	G	15: 35,877,703 (GRCm39)	I2892M	probably damaging	Het
Wnt5a	T	A	14: 28,240,329 (GRCm39)	S160T	probably benign	Het
Zar1	G	A	5: 72,738,294 (GRCm39)	P36L	possibly damaging	Het
Zfp773	A	T	7: 7,135,984 (GRCm39)	M204K	probably benign	Het
Zhx1	T	C	15: 57,916,465 (GRCm39)	T594A	probably benign	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
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
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'- GAGAAATCTTGTTGCCCTTCC -3'
(R):5'- GAGTTGGAGTAGCTGCTCAC -3'

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

Posted On

2019-06-26