Mutagenetix > Incidental Mutation

Incidental Mutation 'R1871:Hgfac'

210726

Institutional Source

Beutler Lab

Gene Symbol

Hgfac

Ensembl Gene

ENSMUSG00000029102

Gene Name

hepatocyte growth factor activator

Synonyms

HGFA

MMRRC Submission

039893-MU

Accession Numbers

Essential gene?

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

Stock #

R1871 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

35041509-35048461 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 35042913 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 90 (*90W)

Ref Sequence

ENSEMBL: ENSMUSP00000144344 (fasta)

Gene Model

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

AlphaFold

Q9R098

Predicted Effect

probably benign
Transcript: ENSMUST00000030985
AA Change: T149A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000030985
Gene: ENSMUSG00000029102
AA Change: T149A

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

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 null
Transcript: ENSMUST00000202573
AA Change: *90W

SMART Domains

Protein: ENSMUSP00000144344
Gene: ENSMUSG00000029102
AA Change: *90W

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202921

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

Validation Efficiency

97% (87/90)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	G	5: 9,418,007	E225G	probably damaging	Het
A930009A15Rik	A	G	10: 115,579,794		probably null	Het
Abca13	A	T	11: 9,292,134	E1332D	probably benign	Het
Abce1	G	A	8: 79,685,268	Q588*	probably null	Het
Acads	A	T	5: 115,117,642	C45S	probably damaging	Het
Adamts12	T	C	15: 11,311,154	S1166P	probably benign	Het
Ano4	T	A	10: 88,993,027	I517F	probably damaging	Het
Arpc1a	T	A	5: 145,107,091	C344S	possibly damaging	Het
Blk	A	T	14: 63,375,915	S381R	possibly damaging	Het
Capn15	C	A	17: 25,964,229	W426L	probably damaging	Het
Chd6	T	C	2: 160,990,256	T999A	probably damaging	Het
Clca3a2	A	G	3: 144,797,637	Y851H	probably benign	Het
Crp	T	A	1: 172,698,605	W86R	possibly damaging	Het
Ctnnal1	G	A	4: 56,812,534	L705F	probably benign	Het
Cyp2c66	A	G	19: 39,163,414	D191G	possibly damaging	Het
Cyp4f37	A	G	17: 32,634,665	D441G	probably damaging	Het
D130040H23Rik	T	A	8: 69,302,702	I253N	probably benign	Het
Dnah5	T	A	15: 28,331,713	Y2148*	probably null	Het
Eef1g	A	T	19: 8,977,966	D393V	possibly damaging	Het
Ephx2	A	T	14: 66,084,734	I538N	probably damaging	Het
Fat4	T	A	3: 38,981,072	S2958T	possibly damaging	Het
Foxi1	A	T	11: 34,207,937	N29K	possibly damaging	Het
Gm10287	G	T	3: 149,224,737		noncoding transcript	Het
Gm10801	G	T	2: 98,663,840	S109I	probably benign	Het
Gm5346	A	T	8: 43,625,095	Y697*	probably null	Het
Gmcl1	T	C	6: 86,697,516	D460G	probably benign	Het
Gpr158	A	G	2: 21,815,615	D641G	probably damaging	Het
Heph	C	A	X: 96,499,084	S561Y	probably benign	Het
Hp1bp3	C	G	4: 138,222,186	P65R	probably damaging	Het
Ighv6-4	T	A	12: 114,406,601	Y58F	probably benign	Het
Jrk	T	C	15: 74,706,563	D291G	possibly damaging	Het
Kdm4d	A	G	9: 14,464,383	Y60H	probably damaging	Het
Khdrbs3	T	C	15: 69,049,442	Y203H	probably damaging	Het
Klhl6	A	T	16: 19,957,043	V255D	possibly damaging	Het
Krt9	C	T	11: 100,190,788	R305H	probably damaging	Het
Lama2	T	G	10: 26,984,494	N2999T	probably damaging	Het
Letm2	A	G	8: 25,596,444		probably benign	Het
Lipa	A	T	19: 34,510,928	L106Q	probably damaging	Het
Llph	A	T	10: 120,231,236	N86I	probably damaging	Het
Lyst	T	A	13: 13,651,712	N1601K	probably benign	Het
Mc1r	T	A	8: 123,407,536	S9R	probably benign	Het
Mfsd14a	A	G	3: 116,641,320	I249T	probably benign	Het
Mtfp1	G	A	11: 4,094,012	R73C	probably benign	Het
Myo1a	A	G	10: 127,719,671	Q877R	probably benign	Het
Nalcn	A	C	14: 123,594,553	V103G	possibly damaging	Het
Ndst3	A	T	3: 123,562,024	F119I	probably damaging	Het
Olfr1008	A	G	2: 85,690,311	N294S	probably damaging	Het
Patl1	T	C	19: 11,925,232		probably benign	Het
Pcdhb2	A	T	18: 37,297,355		probably null	Het
Pcdhb22	A	C	18: 37,519,147	T223P	probably damaging	Het
Pcdhga1	T	A	18: 37,840,090	N907K	probably damaging	Het
Pfas	T	C	11: 68,991,969	D782G	probably damaging	Het
Plpp6	T	C	19: 28,964,284	F95S	probably damaging	Het
Polr2b	T	A	5: 77,326,527		probably benign	Het
Qars	T	G	9: 108,514,116		probably null	Het
Ranbp2	A	G	10: 58,492,561	I2800V	probably damaging	Het
Rnf213	T	C	11: 119,450,129	V3532A	probably benign	Het
Rubcnl	T	C	14: 75,042,409	S411P	possibly damaging	Het
Scn1a	C	A	2: 66,318,025	G1059W	probably damaging	Het
Sgms1	C	T	19: 32,159,882	V95I	probably benign	Het
Siglecf	A	G	7: 43,355,543	N399S	probably benign	Het
Slc29a4	T	C	5: 142,721,488	*529R	probably null	Het
Slfn9	G	T	11: 82,981,576	T778N	probably benign	Het
Sorl1	G	A	9: 41,969,725	Q2167*	probably null	Het
Stkld1	A	G	2: 26,937,973		probably benign	Het
Taar8b	T	C	10: 24,092,002	Y98C	probably damaging	Het
Tecta	G	A	9: 42,337,176	L1977F	probably damaging	Het
Tecta	G	C	9: 42,337,340	T1917R	probably damaging	Het
Topaz1	T	A	9: 122,799,479	S1544T	probably benign	Het
Tpx2	T	C	2: 152,893,603	I717T	probably damaging	Het
Tyk2	A	T	9: 21,121,441	V342E	probably damaging	Het
Ube4a	A	T	9: 44,944,937		probably null	Het
Unc80	A	T	1: 66,510,717	R711S	possibly damaging	Het
Ush2a	C	A	1: 188,826,468	D3631E	probably benign	Het
Usp34	A	G	11: 23,364,479	H807R	probably benign	Het
Vps13a	T	C	19: 16,664,664	T2200A	probably benign	Het
Wif1	A	G	10: 121,084,919	I215M	probably benign	Het
Wnk1	T	C	6: 119,951,089	T1134A	probably damaging	Het
Xxylt1	A	G	16: 30,957,417	V367A	probably damaging	Het
Zfp735	A	T	11: 73,710,586	K119*	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
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
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'- CACTGTGGACCCTCATGAAC -3'
(R):5'- GCCCCTAGATATCTCTGAACTCAAG -3'

Sequencing Primer
(F):5'- TCATGAACCCTGAAGCTAGTAGGTC -3'
(R):5'- TGTCAAAGCCTTTCCTGG -3'

Posted On

2014-06-30