Mutagenetix > Incidental Mutation

Incidental Mutation 'R3826:Hgfac'

275396

Institutional Source

Beutler Lab

Gene Symbol

Hgfac

Ensembl Gene

ENSMUSG00000029102

Gene Name

hepatocyte growth factor activator

Synonyms

HGFA

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R3826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35041509-35048461 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35048162 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 595 (D595E)

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: D595E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030985
Gene: ENSMUSG00000029102
AA Change: D595E

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

Meta Mutation Damage Score

0.5483

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

100% (56/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	T	C	5: 137,567,273	L377P	probably damaging	Het
Apc	C	A	18: 34,279,335	Q236K	possibly damaging	Het
Atn1	G	A	6: 124,746,219		probably benign	Het
C130079G13Rik	T	A	3: 59,936,475	S197T	possibly damaging	Het
Ccr3	A	G	9: 124,029,677	T350A	possibly damaging	Het
Cdc42bpg	T	C	19: 6,317,645	V1015A	probably damaging	Het
Chd2	A	G	7: 73,491,415	Y577H	possibly damaging	Het
Col1a2	A	G	6: 4,516,960		probably benign	Het
Col4a1	C	A	8: 11,209,650	G1341V	probably damaging	Het
Commd9	C	A	2: 101,897,141	N93K	probably benign	Het
Cx3cl1	A	T	8: 94,777,306		probably benign	Het
Dhx37	T	C	5: 125,431,613	K86R	probably benign	Het
Dlec1	T	C	9: 119,143,061		probably benign	Het
Dnah17	G	A	11: 118,041,158		probably benign	Het
Fam234a	T	C	17: 26,218,189	E172G	probably benign	Het
Ffar2	A	T	7: 30,820,085	I10N	possibly damaging	Het
Gas2	T	C	7: 51,936,619		probably null	Het
Gm9573	A	G	17: 35,621,612		probably benign	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Grpel1	T	A	5: 36,469,483	N36K	probably benign	Het
Kcnj10	A	T	1: 172,370,049	S377C	probably damaging	Het
Kcnq2	C	T	2: 181,104,900	V369I	possibly damaging	Het
Kcnt1	T	C	2: 25,915,868		probably null	Het
Lpcat1	T	C	13: 73,489,093	I114T	possibly damaging	Het
Mast4	G	T	13: 102,738,811	H1350N	probably damaging	Het
Mcts1	T	C	X: 38,602,568		probably benign	Het
Myg1	G	C	15: 102,337,736	G349R	probably damaging	Het
Ncor2	T	C	5: 125,118,692		probably benign	Het
Olfr1015	C	T	2: 85,786,215	R235*	probably null	Het
Olfr1102	T	A	2: 87,002,044	I25K	probably damaging	Het
Olfr99	T	A	17: 37,280,249	Y57F	probably damaging	Het
Panx2	A	G	15: 89,068,461	D377G	probably damaging	Het
Pcdhb10	C	A	18: 37,412,417	T182N	probably damaging	Het
Pdha2	G	T	3: 141,211,128	F206L	possibly damaging	Het
Pgd	T	C	4: 149,166,004		probably benign	Het
Pgs1	C	T	11: 118,019,758		probably null	Het
Rere	T	C	4: 150,470,328	V161A	probably benign	Het
Rgs12	G	A	5: 34,966,015	V381M	possibly damaging	Het
Rrm2	G	T	12: 24,708,599	A47S	probably benign	Het
Rsg1	C	T	4: 141,218,589	R148C	probably damaging	Het
Rsph6a	T	C	7: 19,057,614	L236P	probably damaging	Het
Rtkn2	A	T	10: 67,997,626		probably null	Het
Rubcnl	C	T	14: 75,032,225	L108F	possibly damaging	Het
Sap18b	T	C	8: 95,825,557	F65S	probably damaging	Het
Scap	A	G	9: 110,381,297	M925V	probably benign	Het
Slc7a8	A	G	14: 54,737,572	I200T	probably damaging	Het
Srrm3	A	G	5: 135,857,214	D336G	probably damaging	Het
Stk11	T	C	10: 80,127,948		probably null	Het
Tiam2	C	G	17: 3,507,701		probably benign	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Trio	T	A	15: 27,833,070	K75N	probably damaging	Het
Tspan18	T	C	2: 93,220,108	I57V	probably benign	Het
Ube3b	C	A	5: 114,399,951	Q368K	probably damaging	Het
Zfhx4	A	T	3: 5,401,209	K2142N	probably damaging	Het
Zfp37	T	C	4: 62,192,563	N88S	probably benign	Het
Zswim8	C	T	14: 20,711,089	R142*	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
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
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'- AGAGAGGCCACACTTCTCAG -3'
(R):5'- GGTACTATGAGCATCCCTTCCTTG -3'

Sequencing Primer
(F):5'- TTCTCAGAAAAACCTGTCATCTGC -3'
(R):5'- GGGTTCAGGACGTAGCCAC -3'

Posted On

2015-04-02