Mutagenetix > Incidental Mutation

Incidental Mutation 'R7059:Hgfac'

548117

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: 0.069) question?

Stock #

R7059 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35041509-35048461 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35044429 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 302 (L302Q)

Ref Sequence

ENSEMBL: ENSMUSP00000030985 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030985] [ENSMUST00000087684] [ENSMUST00000114283] [ENSMUST00000114285] [ENSMUST00000202573]

AlphaFold

Q9R098

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030985
AA Change: L302Q

PolyPhen 2 Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030985
Gene: ENSMUSG00000029102
AA Change: L302Q

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: ENSMUST00000087684

SMART Domains

Protein: ENSMUSP00000084970
Gene: ENSMUSG00000029101

Domain	Start	End	E-Value	Type
PDZ	29	98	5.25e-18	SMART
PTB	224	373	5.05e-28	SMART
low complexity region	443	456	N/A	INTRINSIC
low complexity region	643	661	N/A	INTRINSIC
low complexity region	685	697	N/A	INTRINSIC
RGS	715	832	2.84e-41	SMART
Pfam:RGS12_us1	836	953	4.3e-61	PFAM
RBD	962	1032	3.12e-28	SMART
RBD	1034	1104	2.44e-21	SMART
Pfam:RGS12_us2	1106	1180	2.4e-37	PFAM
GoLoco	1187	1209	9.74e-9	SMART
Pfam:RGS12_usC	1238	1379	9.2e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114283

SMART Domains

Protein: ENSMUSP00000109922
Gene: ENSMUSG00000029101

Domain	Start	End	E-Value	Type
low complexity region	27	39	N/A	INTRINSIC
RGS	57	174	2.84e-41	SMART
low complexity region	191	207	N/A	INTRINSIC
low complexity region	210	222	N/A	INTRINSIC
low complexity region	253	270	N/A	INTRINSIC
RBD	304	374	3.12e-28	SMART
RBD	376	446	2.44e-21	SMART
GoLoco	529	551	9.74e-9	SMART
low complexity region	601	622	N/A	INTRINSIC
low complexity region	634	650	N/A	INTRINSIC
low complexity region	697	729	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114285

SMART Domains

Protein: ENSMUSP00000109924
Gene: ENSMUSG00000029101

Domain	Start	End	E-Value	Type
low complexity region	37	49	N/A	INTRINSIC
RGS	67	184	2.84e-41	SMART
low complexity region	201	217	N/A	INTRINSIC
low complexity region	220	232	N/A	INTRINSIC
low complexity region	263	280	N/A	INTRINSIC
RBD	314	384	3.12e-28	SMART
RBD	386	456	2.44e-21	SMART
GoLoco	539	561	9.74e-9	SMART
low complexity region	611	632	N/A	INTRINSIC
low complexity region	644	660	N/A	INTRINSIC
low complexity region	707	739	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150139

SMART Domains

Protein: ENSMUSP00000117158
Gene: ENSMUSG00000029101

Domain	Start	End	E-Value	Type
Blast:RBD	2	33	5e-13	BLAST
Pfam:RGS12_us2	35	80	5.8e-13	PFAM

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (54/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	T	C	2: 32,574,497		probably benign	Het
9930021J03Rik	T	A	19: 29,719,545	E849D	probably benign	Het
Abca16	A	G	7: 120,421,748	T5A	probably benign	Het
Abraxas1	T	C	5: 100,806,237	D349G	probably benign	Het
Adcyap1r1	T	A	6: 55,491,310	L405Q	probably damaging	Het
Aqp5	A	T	15: 99,594,246	T125S	probably benign	Het
Asah1	A	T	8: 41,347,069	N169K	probably damaging	Het
Atl3	A	G	19: 7,533,968	N515D	probably benign	Het
Atl3	A	C	19: 7,533,969	N520T	probably benign	Het
Atp6v1c2	C	A	12: 17,289,004	E249*	probably null	Het
Bcl2a1b	T	A	9: 89,199,760	I134K	probably damaging	Het
Btbd10	C	T	7: 113,329,922	R159H	probably damaging	Het
Chmp6	T	C	11: 119,916,040	F7L	probably damaging	Het
Colq	C	A	14: 31,526,034	C409F	probably damaging	Het
Cpox	T	A	16: 58,670,927	V167E	probably damaging	Het
Cul3	T	C	1: 80,276,424	Y545C	probably benign	Het
Dqx1	C	T	6: 83,064,809	A544V	probably benign	Het
Dzip3	A	G	16: 48,980,942	I73T	probably benign	Het
Epha3	T	A	16: 63,568,455	Y810F	probably damaging	Het
Esp36	A	T	17: 38,417,051	I113N	unknown	Het
Fbxw17	T	A	13: 50,432,548	W429R	probably damaging	Het
Fcrls	A	T	3: 87,257,340	I293N	possibly damaging	Het
Fhad1	CGG	CG	4: 141,918,291		probably null	Het
Gm8126	T	A	14: 43,261,518	L148H	probably benign	Het
Gpr39	C	A	1: 125,677,959	S208Y	probably damaging	Het
Heatr5a	T	C	12: 51,888,234	E1662G	probably damaging	Het
Itih1	G	A	14: 30,931,309	H721Y	possibly damaging	Het
Kat8	A	G	7: 127,924,903	I372V	probably benign	Het
Kcnk1	T	A	8: 126,029,727	Y329*	probably null	Het
Kcns2	A	T	15: 34,838,835	I115F	probably damaging	Het
Kif1a	C	T	1: 93,046,829		probably benign	Het
Lcn2	T	A	2: 32,387,596	D127V	possibly damaging	Het
Lrfn1	T	C	7: 28,466,930	V583A	possibly damaging	Het
Map3k1	T	C	13: 111,772,778	I55V	probably benign	Het
Mapk9	T	C	11: 49,867,047		probably null	Het
Mrpl18	A	G	17: 12,913,781	S154P	possibly damaging	Het
Mst1	C	A	9: 108,084,064	H524Q	probably benign	Het
Mtpap	T	C	18: 4,396,202	L498P	probably damaging	Het
Myl3	C	T	9: 110,742,037		probably benign	Het
Myrfl	T	C	10: 116,849,206	T90A	probably benign	Het
Mzf1	G	T	7: 13,053,058	S28R	probably damaging	Het
Olfm1	T	C	2: 28,222,616	S205P	probably damaging	Het
Olfr671	A	T	7: 104,976,017		probably null	Het
Prrc2a	G	A	17: 35,157,388	P809S	probably damaging	Het
Rab5c	G	A	11: 100,719,963	R40C	probably damaging	Het
Rbm48	A	T	5: 3,590,625	C251*	probably null	Het
Rxfp1	A	T	3: 79,652,269	V415E	probably damaging	Het
Slc12a6	T	A	2: 112,352,912	L748Q	probably damaging	Het
Slc19a3	T	A	1: 83,022,369	Y309F	probably damaging	Het
Slc36a1	A	G	11: 55,223,672	D192G	probably damaging	Het
Slc38a4	G	T	15: 97,009,014	S281*	probably null	Het
Syne1	A	T	10: 5,346,859	S1201T	probably damaging	Het
Tex15	C	A	8: 33,574,730	T1396K	possibly damaging	Het
Zswim8	G	T	14: 20,714,573		probably null	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
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
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'- ATGCTGGGCGGTTCTGTAAC -3'
(R):5'- ATCCCAAGAGGCAGAGGCTAAC -3'

Sequencing Primer
(F):5'- CTGTAACATTGGTGAGTCACTTTC -3'
(R):5'- ACTGTTGTCCCCTGCAGAG -3'

Posted On

2019-05-13