Mutagenetix > Incidental Mutation

Incidental Mutation 'R6017:Hgfac'

478634

Institutional Source

Beutler Lab

Gene Symbol

Hgfac

Ensembl Gene

ENSMUSG00000029102

Gene Name

hepatocyte growth factor activator

Synonyms

HGFA

MMRRC Submission

044191-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R6017 (G1)

Quality Score

195.009

Status

Validated

Chromosome

Chromosomal Location

35198853-35205805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35201739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 291 (Y291H)

Ref Sequence

ENSEMBL: ENSMUSP00000030985 (fasta)

Gene Model

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

AlphaFold

Q9R098

Predicted Effect

probably damaging
Transcript: ENSMUST00000030985
AA Change: Y291H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030985
Gene: ENSMUSG00000029102
AA Change: Y291H

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

unknown
Transcript: ENSMUST00000202921
AA Change: Y16H

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202168

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202126

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

Meta Mutation Damage Score

0.7440

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

97% (62/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,325,780 (GRCm39)	I56M	probably damaging	Het
Adgrv1	A	T	13: 81,545,542 (GRCm39)	L5581*	probably null	Het
Arpc2	C	A	1: 74,301,645 (GRCm39)	H193N	probably benign	Het
B3galt5	A	G	16: 96,116,384 (GRCm39)	T6A	probably benign	Het
Bod1l	A	T	5: 41,976,103 (GRCm39)	V1737E	probably benign	Het
Cacfd1	T	G	2: 26,903,440 (GRCm39)		probably benign	Het
Cdc42ep4	A	T	11: 113,620,192 (GRCm39)	D66E	probably benign	Het
Cldn1	G	T	16: 26,181,969 (GRCm39)	T80N	probably damaging	Het
Cmtm1	C	A	8: 105,037,583 (GRCm39)		probably benign	Het
Cntnap5c	A	T	17: 58,411,693 (GRCm39)	I526F	probably benign	Het
Copb1	T	C	7: 113,836,032 (GRCm39)	K450E	probably benign	Het
Crebrf	A	C	17: 26,976,823 (GRCm39)	I416L	probably benign	Het
Csmd3	C	A	15: 48,177,408 (GRCm39)	V377F	possibly damaging	Het
Cyp1a2	T	C	9: 57,588,313 (GRCm39)	K304E	probably damaging	Het
Cyp2d26	A	G	15: 82,674,774 (GRCm39)	S403P	possibly damaging	Het
Cyp4a12a	T	A	4: 115,183,476 (GRCm39)	C198*	probably null	Het
Ddx11	A	G	17: 66,437,012 (GRCm39)	D102G		Het
Dpys	T	A	15: 39,710,114 (GRCm39)	Q105L	probably null	Het
Dsn1	C	A	2: 156,838,162 (GRCm39)	R334L	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epha8	G	T	4: 136,659,054 (GRCm39)	H867N	probably damaging	Het
Ephb3	T	C	16: 21,040,781 (GRCm39)	L643P	probably damaging	Het
Fbxo44	G	T	4: 148,243,010 (GRCm39)	H83Q	probably benign	Het
Gm13102	T	C	4: 143,835,807 (GRCm39)	Y477H	possibly damaging	Het
Gm7347	T	C	5: 26,262,276 (GRCm39)	T82A	probably benign	Het
Gss	C	A	2: 155,429,385 (GRCm39)	A36S	probably benign	Het
Hepacam	A	G	9: 37,292,056 (GRCm39)	D128G	probably benign	Het
Hepacam2	C	A	6: 3,483,332 (GRCm39)	V226F	probably damaging	Het
Ip6k2	G	A	9: 108,674,466 (GRCm39)	R88H	probably benign	Het
Irx5	T	A	8: 93,084,878 (GRCm39)	Y23N	probably damaging	Het
Kcnf1	T	C	12: 17,225,082 (GRCm39)	M380V	probably damaging	Het
Kcnj1	A	T	9: 32,305,400 (GRCm39)		probably benign	Het
Kcnk12	T	C	17: 88,054,164 (GRCm39)	E166G	probably damaging	Het
Kctd16	T	C	18: 40,391,996 (GRCm39)	C195R	probably damaging	Het
Kif28	T	A	1: 179,527,018 (GRCm39)	I718F	probably benign	Het
Lce1e	T	A	3: 92,615,240 (GRCm39)	K36*	probably null	Het
Map4	T	C	9: 109,863,687 (GRCm39)	L304P	probably benign	Het
Mettl17	C	T	14: 52,129,074 (GRCm39)		probably benign	Het
Mpp4	T	C	1: 59,160,518 (GRCm39)	D595G	probably damaging	Het
Myo18a	A	G	11: 77,732,349 (GRCm39)	K1282E	probably damaging	Het
Nf2	A	T	11: 4,766,137 (GRCm39)	V131D	possibly damaging	Het
Or7g35	T	C	9: 19,496,730 (GRCm39)	V299A	probably benign	Het
Or8b3	A	T	9: 38,314,916 (GRCm39)	M249L	probably benign	Het
Oxsr1	A	G	9: 119,093,843 (GRCm39)	L270S	probably benign	Het
Plekhg2	G	A	7: 28,062,309 (GRCm39)	T536I	probably damaging	Het
Ppp1r9a	T	A	6: 4,906,363 (GRCm39)	V306D	probably benign	Het
Ptk6	C	T	2: 180,837,605 (GRCm39)	C438Y	probably benign	Het
Scfd1	T	C	12: 51,492,461 (GRCm39)	V590A	probably damaging	Het
Serpina1b	A	G	12: 103,695,531 (GRCm39)	S337P	probably damaging	Het
Skor2	T	A	18: 76,946,622 (GRCm39)	C115S	unknown	Het
Slc2a7	T	C	4: 150,249,629 (GRCm39)	S407P	probably damaging	Het
Slc8a1	A	G	17: 81,955,683 (GRCm39)	S452P	probably damaging	Het
Spata31d1c	A	G	13: 65,182,893 (GRCm39)	D145G	possibly damaging	Het
Spata6	C	A	4: 111,632,024 (GRCm39)	T145K	probably damaging	Het
Stab1	C	T	14: 30,863,501 (GRCm39)	R2087H	probably benign	Het
Stk24	C	T	14: 121,539,657 (GRCm39)	V180M	probably benign	Het
Trrap	A	G	5: 144,781,051 (GRCm39)	T3271A	probably damaging	Het
Tyro3	T	A	2: 119,647,147 (GRCm39)	W755R	probably damaging	Het
Ush2a	T	C	1: 188,689,711 (GRCm39)		probably null	Het
Uts2b	T	C	16: 27,179,793 (GRCm39)		probably null	Het
Vmn2r105	T	A	17: 20,428,889 (GRCm39)	H729L	probably damaging	Het
Vps35l	T	A	7: 118,409,144 (GRCm39)	V635D	probably damaging	Het
Wdfy3	T	C	5: 101,999,225 (GRCm39)	I3068V	probably benign	Het
Zfp457	G	A	13: 67,441,763 (GRCm39)	H175Y	probably damaging	Het
Zfp758	A	G	17: 22,592,712 (GRCm39)	D40G	probably damaging	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
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'- TTGTCTGAGCAGCCCATGTC -3'
(R):5'- GAAGACCCTCTGTCCAATCCTTTG -3'

Sequencing Primer
(F):5'- TCTGAGCAGCCCATGTCTGAAC -3'
(R):5'- GCTTATGCAGAAAGAGTATGTATAGC -3'

Posted On

2017-06-26