Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01568:Hgf'

91042

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hgf

Ensembl Gene

ENSMUSG00000028864

Gene Name

hepatocyte growth factor

Synonyms

HGF/SF, NK1, C230052L06Rik, scatter factor, NK2, SF/HGF

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01568

Quality Score

Status

Chromosome

Chromosomal Location

16553495-16620152 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 16564814 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 95 (K95N)

Ref Sequence

ENSEMBL: ENSMUSP00000143424 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030683] [ENSMUST00000196645] [ENSMUST00000199581]

AlphaFold

Q08048

Predicted Effect

probably damaging
Transcript: ENSMUST00000030683
AA Change: K95N

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

SMART Domains

Protein: ENSMUSP00000030683
Gene: ENSMUSG00000028864
AA Change: K95N

Domain	Start	End	E-Value	Type
low complexity region	7	25	N/A	INTRINSIC
PAN_AP	38	123	6.47e-13	SMART
KR	127	209	3.03e-46	SMART
KR	210	291	9.04e-45	SMART
KR	304	386	7.35e-45	SMART
KR	390	472	1.02e-38	SMART
Tryp_SPc	495	719	5.6e-55	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195957

Predicted Effect

probably damaging
Transcript: ENSMUST00000196645
AA Change: K95N

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

SMART Domains

Protein: ENSMUSP00000142517
Gene: ENSMUSG00000028864
AA Change: K95N

Domain	Start	End	E-Value	Type
low complexity region	7	25	N/A	INTRINSIC
PAN_AP	38	123	6.47e-13	SMART
KR	127	204	3.76e-42	SMART
KR	205	286	9.04e-45	SMART
KR	299	381	7.35e-45	SMART
KR	385	467	1.02e-38	SMART
Tryp_SPc	490	714	5.6e-55	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000199581
AA Change: K95N

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

SMART Domains

Protein: ENSMUSP00000143424
Gene: ENSMUSG00000028864
AA Change: K95N

Domain	Start	End	E-Value	Type
low complexity region	7	25	N/A	INTRINSIC
PAN_AP	38	123	6.47e-13	SMART
KR	127	209	3.03e-46	SMART
KR	210	291	9.04e-45	SMART
KR	304	386	7.35e-45	SMART
KR	390	472	1.02e-38	SMART
Tryp_SPc	495	719	5.6e-55	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200189

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein that binds to the hepatocyte growth factor receptor to regulate cell growth, cell motility and morphogenesis in numerous cell and tissue types. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the hepatocyte growth factor alpha and beta chains, which heterodimerize to form the mature active protein. Although this protein is a member of the peptidase S1 family of serine proteases, it lacks peptidase activity. Homozygous knockout mice for this gene exhibit embryonic lethality due to impaired development of the placenta and liver. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced embryonic livers, impaired migration of dermomyotome precursors affecting skeletal muscle formation, defective navigation of hypoglossal motor axons, abnormal placentas, and prenatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	A	G	6: 50,573,698		probably benign	Het
Akap13	T	A	7: 75,608,522	L298*	probably null	Het
Capn15	G	T	17: 25,965,445	R21S	probably damaging	Het
Cbs	A	G	17: 31,621,514	L290P	possibly damaging	Het
Dnah5	T	C	15: 28,229,652	I144T	probably benign	Het
Dok4	T	A	8: 94,866,802	I119F	probably benign	Het
Dpp9	T	C	17: 56,191,159	N599S	probably benign	Het
Ep400	T	C	5: 110,719,495	T984A	unknown	Het
Fcrls	T	C	3: 87,256,679	N381S	probably damaging	Het
Fhod3	A	G	18: 25,120,162	I1390V	probably benign	Het
Gabbr1	A	G	17: 37,070,669	Y775C	probably damaging	Het
Gimap9	A	G	6: 48,677,616	T46A	probably benign	Het
Gm3696	T	C	14: 7,089,819	N88S	probably benign	Het
Gm5277	A	G	3: 78,892,436		noncoding transcript	Het
Gpr153	C	A	4: 152,282,368		probably null	Het
Igf2r	A	G	17: 12,683,985	S2393P	possibly damaging	Het
Ikbke	C	A	1: 131,257,896		probably null	Het
Il17re	G	T	6: 113,470,052	R588L	probably damaging	Het
Itch	T	C	2: 155,212,462		probably benign	Het
Krt2	T	A	15: 101,813,211	D465V	probably damaging	Het
Krt28	G	T	11: 99,371,417	P249Q	probably damaging	Het
Lax1	A	T	1: 133,680,300	D234E	probably benign	Het
Mtmr3	A	G	11: 4,527,861	I61T	probably damaging	Het
Naip5	G	T	13: 100,217,101	Q1217K	probably benign	Het
Nt5dc3	A	G	10: 86,833,938	T466A	probably benign	Het
Olfr1350	A	T	7: 6,570,570	H193L	possibly damaging	Het
Olfr283	T	C	15: 98,378,906	D68G	probably damaging	Het
Pcdhb3	T	C	18: 37,302,001	V340A	possibly damaging	Het
Pclo	C	T	5: 14,678,429		probably benign	Het
Piezo2	C	T	18: 63,030,392	V2152I	probably benign	Het
Pip4k2b	A	T	11: 97,729,552		probably null	Het
Ptprs	G	A	17: 56,413,958	H1432Y	probably damaging	Het
Rars	A	G	11: 35,825,981		probably benign	Het
Scrn1	A	G	6: 54,522,754		probably benign	Het
Sdr42e1	T	C	8: 117,663,443	Y153C	probably damaging	Het
Slc18a1	A	T	8: 69,065,626	S245R	probably damaging	Het
Tns1	T	G	1: 73,953,509	D670A	probably damaging	Het
Trim16	T	A	11: 62,820,858	D118E	probably benign	Het
Trpv1	A	G	11: 73,238,443	D62G	probably benign	Het
Tyr	A	G	7: 87,437,948	L452P	probably damaging	Het
Ubr4	T	C	4: 139,421,373	C1723R	probably damaging	Het
Uqcrb	G	A	13: 66,901,395		probably benign	Het
Vax2	G	T	6: 83,711,537	V81L	possibly damaging	Het
Zan	A	G	5: 137,464,844	V691A	unknown	Het
Zfp335	A	G	2: 164,894,788	S976P	possibly damaging	Het
Zfp384	C	T	6: 125,024,132	P56S	probably damaging	Het

Other mutations in Hgf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Hgf	APN	5	16611882	missense	possibly damaging	0.70
IGL00427:Hgf	APN	5	16578486	missense	probably benign	0.09
IGL00788:Hgf	APN	5	16598230	missense	probably damaging	0.99
IGL01290:Hgf	APN	5	16604846	missense	probably damaging	1.00
IGL01333:Hgf	APN	5	16576941	nonsense	probably null
IGL02314:Hgf	APN	5	16572602	missense	probably damaging	0.99
IGL02328:Hgf	APN	5	16598221	missense	probably damaging	1.00
IGL02368:Hgf	APN	5	16564794	missense	possibly damaging	0.95
IGL02486:Hgf	APN	5	16602289	missense	probably damaging	1.00
IGL02654:Hgf	APN	5	16561051	missense	probably benign
Foiegras	UTSW	5	16615802	missense	probably benign	0.01
PIT4378001:Hgf	UTSW	5	16611862	missense	probably damaging	1.00
R0708:Hgf	UTSW	5	16566763	nonsense	probably null
R0710:Hgf	UTSW	5	16566763	nonsense	probably null
R0718:Hgf	UTSW	5	16593859	missense	probably damaging	1.00
R0967:Hgf	UTSW	5	16593841	splice site	probably benign
R1181:Hgf	UTSW	5	16618925	missense	probably damaging	1.00
R1589:Hgf	UTSW	5	16613785	missense	probably damaging	1.00
R1705:Hgf	UTSW	5	16615802	missense	probably benign	0.01
R1983:Hgf	UTSW	5	16561012	missense	possibly damaging	0.53
R2021:Hgf	UTSW	5	16576921	missense	probably benign
R2441:Hgf	UTSW	5	16604790	missense	probably damaging	0.99
R4083:Hgf	UTSW	5	16615858	nonsense	probably null
R4084:Hgf	UTSW	5	16615858	nonsense	probably null
R4211:Hgf	UTSW	5	16614993	missense	probably damaging	0.99
R4388:Hgf	UTSW	5	16614943	missense	probably benign	0.12
R4394:Hgf	UTSW	5	16618951	nonsense	probably null
R4575:Hgf	UTSW	5	16572601	missense	probably benign
R5044:Hgf	UTSW	5	16614894	missense	probably benign	0.00
R5319:Hgf	UTSW	5	16566862	critical splice donor site	probably null
R5585:Hgf	UTSW	5	16564801	missense	possibly damaging	0.93
R5700:Hgf	UTSW	5	16610124	missense	probably damaging	1.00
R5814:Hgf	UTSW	5	16602307	missense	probably benign	0.19
R6125:Hgf	UTSW	5	16598161	missense	probably damaging	1.00
R6749:Hgf	UTSW	5	16613642	splice site	probably null
R6891:Hgf	UTSW	5	16604922	critical splice donor site	probably null
R6962:Hgf	UTSW	5	16615754	missense	probably benign	0.32
R7251:Hgf	UTSW	5	16593944	missense	possibly damaging	0.95
R7296:Hgf	UTSW	5	16564843	missense	probably benign	0.39
R7463:Hgf	UTSW	5	16578450	missense	probably benign	0.00
R7470:Hgf	UTSW	5	16618856	missense	probably benign	0.02
R7630:Hgf	UTSW	5	16598250	missense	probably benign	0.01
R7807:Hgf	UTSW	5	16577011	missense	probably damaging	0.99
R8098:Hgf	UTSW	5	16561061	missense	probably benign	0.04
R8120:Hgf	UTSW	5	16613781	missense	probably damaging	1.00
R8132:Hgf	UTSW	5	16602331	missense	probably damaging	1.00
R8499:Hgf	UTSW	5	16566856	missense	probably damaging	0.99
R8929:Hgf	UTSW	5	16593990	missense	probably benign	0.44
R9016:Hgf	UTSW	5	16618958	missense	probably damaging	1.00
R9126:Hgf	UTSW	5	16560981	missense	possibly damaging	0.95
R9197:Hgf	UTSW	5	16561061	missense	probably benign	0.04
R9347:Hgf	UTSW	5	16604923	critical splice donor site	probably null
R9478:Hgf	UTSW	5	16561031	missense	possibly damaging	0.70
X0024:Hgf	UTSW	5	16604828	missense	probably damaging	1.00
Z1088:Hgf	UTSW	5	16618919	missense	probably damaging	1.00

Posted On

2013-12-09