Mutagenetix > Incidental Mutation

Incidental Mutation 'R5905:Hgfac'

456499

Institutional Source

Beutler Lab

Gene Symbol

Hgfac

Ensembl Gene

ENSMUSG00000029102

Gene Name

hepatocyte growth factor activator

Synonyms

HGFA

MMRRC Submission

044102-MU

Accession Numbers

Essential gene?

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

Stock #

R5905 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35198853-35205805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35199706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 63 (N63D)

Ref Sequence

ENSEMBL: ENSMUSP00000030985 (fasta)

Gene Model

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

AlphaFold

Q9R098

Predicted Effect

probably benign
Transcript: ENSMUST00000030985
AA Change: N63D

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000030985
Gene: ENSMUSG00000029102
AA Change: N63D

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 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

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.1%
20x: 90.9%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	A	3: 36,533,718 (GRCm39)		probably null	Het
Acat1	A	T	9: 53,503,366 (GRCm39)	Y158N	probably damaging	Het
Adamtsl1	C	A	4: 86,260,561 (GRCm39)	A924E	probably damaging	Het
Alad	G	T	4: 62,428,359 (GRCm39)	T305K	probably benign	Het
Als2cl	G	T	9: 110,727,152 (GRCm39)	R906L	probably damaging	Het
Ap3d1	T	C	10: 80,558,761 (GRCm39)	N281S	possibly damaging	Het
Arf4	A	G	14: 26,375,079 (GRCm39)	T113A	probably benign	Het
Asah2	T	C	19: 31,993,914 (GRCm39)	D438G	probably damaging	Het
Cachd1	C	A	4: 100,840,753 (GRCm39)	N905K	probably damaging	Het
Catsperb	T	A	12: 101,568,959 (GRCm39)	M877K	possibly damaging	Het
Cc2d2a	A	T	5: 43,869,768 (GRCm39)	M890L	probably benign	Het
Cd180	A	T	13: 102,842,541 (GRCm39)	H529L	possibly damaging	Het
Cdh23	G	T	10: 60,370,314 (GRCm39)	D160E	probably damaging	Het
Chd7	C	A	4: 8,840,553 (GRCm39)	N1440K	possibly damaging	Het
Cntln	T	A	4: 84,889,410 (GRCm39)	S298T	probably benign	Het
Cplx3	A	G	9: 57,515,546 (GRCm39)	I443T	probably damaging	Het
Dmap1	G	T	4: 117,533,963 (GRCm39)	T132K	probably benign	Het
Dnah11	C	T	12: 117,918,659 (GRCm39)	G3424E	probably damaging	Het
Dnah5	T	A	15: 28,387,979 (GRCm39)	M3146K	probably damaging	Het
Egfr	A	T	11: 16,861,494 (GRCm39)	E1091V	probably damaging	Het
Eps8l2	T	C	7: 140,937,746 (GRCm39)	F422S	possibly damaging	Het
F2r	A	G	13: 95,741,121 (GRCm39)	V138A	possibly damaging	Het
Faf1	T	A	4: 109,748,126 (GRCm39)	M477K	probably benign	Het
Fam149b	C	T	14: 20,409,978 (GRCm39)	T235M	probably benign	Het
Fan1	C	A	7: 64,003,399 (GRCm39)	A808S	probably benign	Het
Fbxl20	A	G	11: 98,006,271 (GRCm39)	I38T	probably damaging	Het
Fnbp4	C	A	2: 90,581,478 (GRCm39)	T177K	probably benign	Het
Gm9747	T	C	1: 82,212,019 (GRCm39)		probably benign	Het
Grip1	A	G	10: 119,821,397 (GRCm39)	D354G	probably benign	Het
Grk4	A	C	5: 34,869,074 (GRCm39)	Y189S	probably damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hk1	C	A	10: 62,188,837 (GRCm39)	K25N	probably null	Het
Hrc	G	A	7: 44,985,658 (GRCm39)	G270S	probably damaging	Het
Inhba	T	A	13: 16,191,893 (GRCm39)	W5R	probably benign	Het
Lipm	T	C	19: 34,089,311 (GRCm39)	S90P	probably benign	Het
Lmod3	T	A	6: 97,224,575 (GRCm39)	E415D	probably damaging	Het
Lrrc37	A	T	11: 103,505,081 (GRCm39)	S2296T	probably damaging	Het
Lrrc63	A	G	14: 75,323,614 (GRCm39)	S537P	possibly damaging	Het
Map9	T	A	3: 82,287,555 (GRCm39)		probably null	Het
Marf1	T	A	16: 13,945,113 (GRCm39)	Q1252L	probably damaging	Het
Mc3r	A	T	2: 172,091,129 (GRCm39)	D117V	probably damaging	Het
Mepce	A	G	5: 137,782,982 (GRCm39)	V448A	possibly damaging	Het
Mical1	A	T	10: 41,362,873 (GRCm39)	M973L	probably benign	Het
Mmp21	T	C	7: 133,280,443 (GRCm39)	T176A	probably benign	Het
Nacc2	A	G	2: 25,951,590 (GRCm39)	V415A	probably damaging	Het
Neb	G	A	2: 52,083,243 (GRCm39)	T1639I	probably damaging	Het
Nfia	A	G	4: 97,999,488 (GRCm39)	H485R	possibly damaging	Het
Nlrp9a	C	T	7: 26,257,762 (GRCm39)	T460I	probably benign	Het
Or10p21	A	T	10: 128,847,156 (GRCm39)	M1L	probably benign	Het
Or52z15	T	A	7: 103,332,781 (GRCm39)	N285K	probably damaging	Het
Or56b35	T	C	7: 104,964,158 (GRCm39)	Y316H	probably benign	Het
Or8g24	T	A	9: 38,989,379 (GRCm39)	I221F	probably damaging	Het
Or8k32	T	A	2: 86,369,113 (GRCm39)	I49F	possibly damaging	Het
Or9s13	T	A	1: 92,547,864 (GRCm39)	C79S	possibly damaging	Het
Otoa	T	A	7: 120,693,824 (GRCm39)	L68Q	probably damaging	Het
Pclo	A	T	5: 14,730,399 (GRCm39)		probably benign	Het
Pcsk2	T	A	2: 143,591,060 (GRCm39)	Y186N	probably damaging	Het
Pigz	A	G	16: 31,764,246 (GRCm39)	T435A	probably benign	Het
Pja2	T	C	17: 64,616,085 (GRCm39)	D270G	probably benign	Het
Polb	G	T	8: 23,130,011 (GRCm39)	S187*	probably null	Het
Popdc3	A	G	10: 45,194,015 (GRCm39)	D272G	probably benign	Het
Prr5	A	T	15: 84,626,178 (GRCm39)	K84N	possibly damaging	Het
Prss36	T	C	7: 127,532,744 (GRCm39)	D716G	probably benign	Het
Rapgef5	T	A	12: 117,712,161 (GRCm39)	D547E	probably damaging	Het
Slc4a11	T	A	2: 130,526,972 (GRCm39)	I719F	probably damaging	Het
Smpd2	A	G	10: 41,365,344 (GRCm39)	W51R	probably damaging	Het
Snrpb	T	A	2: 130,021,196 (GRCm39)		probably benign	Het
Sox9	A	G	11: 112,674,646 (GRCm39)	E148G	probably damaging	Het
Strbp	G	A	2: 37,515,267 (GRCm39)	T253I	probably damaging	Het
Sult1d1	A	T	5: 87,707,685 (GRCm39)	M145K	probably damaging	Het
Syt17	T	C	7: 118,036,141 (GRCm39)	D74G	probably benign	Het
Taf5l	A	C	8: 124,729,714 (GRCm39)		probably null	Het
Tas2r131	T	G	6: 132,934,639 (GRCm39)	I57L	probably benign	Het
Tcf25	A	G	8: 124,108,176 (GRCm39)	N77S	possibly damaging	Het
Tmem253	A	G	14: 52,255,268 (GRCm39)	T57A	possibly damaging	Het
Trrap	A	G	5: 144,786,730 (GRCm39)	K3170R	possibly damaging	Het
Tspan17	A	G	13: 54,941,111 (GRCm39)	N130S	probably damaging	Het
Vmn1r216	C	T	13: 23,283,367 (GRCm39)	L17F	probably damaging	Het
Vmn2r3	T	A	3: 64,182,698 (GRCm39)	T334S	probably benign	Het
Wnk2	G	T	13: 49,229,821 (GRCm39)	A901E	probably damaging	Het
Zc3hav1	T	C	6: 38,284,275 (GRCm39)	T947A	probably benign	Het
Zfhx3	C	T	8: 109,520,135 (GRCm39)	P419L	probably damaging	Het
Zfp292	A	G	4: 34,819,549 (GRCm39)	S258P	probably damaging	Het
Zfp354c	T	C	11: 50,706,253 (GRCm39)	Y274C	probably damaging	Het
Zfp652	G	A	11: 95,640,689 (GRCm39)	A205T	probably benign	Het
Zfp964	A	G	8: 70,116,563 (GRCm39)	T388A	unknown	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
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
R7232:Hgfac	UTSW	5	35,204,258 (GRCm39)	missense	probably damaging	1.00
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'- AAGGAGTCTCAGGTCTCTGG -3'
(R):5'- TTCCCTCAGAGGTACAGGAGTG -3'

Sequencing Primer
(F):5'- CAGGTCTCTGGTGTATCCGAC -3'
(R):5'- ATCAGGCATCCCACTGGGTAC -3'

Posted On

2017-02-15