Mutagenetix > Incidental Mutation

Incidental Mutation 'R0718:Hgf'

63690

Institutional Source

Beutler Lab

Gene Symbol

Hgf

Ensembl Gene

ENSMUSG00000028864

Gene Name

hepatocyte growth factor

Synonyms

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

MMRRC Submission

038900-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0718 (G1)

Quality Score

187

Status

Validated

Chromosome

Chromosomal Location

16758493-16825150 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16798857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 295 (N295S)

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: N295S

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

SMART Domains

Protein: ENSMUSP00000030683
Gene: ENSMUSG00000028864
AA Change: N295S

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

probably damaging
Transcript: ENSMUST00000196645
AA Change: N290S

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

SMART Domains

Protein: ENSMUSP00000142517
Gene: ENSMUSG00000028864
AA Change: N290S

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: N295S

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

SMART Domains

Protein: ENSMUSP00000143424
Gene: ENSMUSG00000028864
AA Change: N295S

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

Meta Mutation Damage Score

0.0624

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (96/96)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	A	T	3: 95,586,918 (GRCm39)	Y811N	possibly damaging	Het
Adrm1	T	C	2: 179,816,940 (GRCm39)		probably benign	Het
Alms1	T	A	6: 85,598,803 (GRCm39)	S1210T	probably benign	Het
Ampd3	C	T	7: 110,377,015 (GRCm39)	P11L	probably damaging	Het
Arhgap5	A	G	12: 52,563,290 (GRCm39)	E87G	possibly damaging	Het
Armc5	C	T	7: 127,839,242 (GRCm39)		probably benign	Het
Asic2	C	G	11: 80,862,282 (GRCm39)		probably benign	Het
Asph	A	G	4: 9,514,683 (GRCm39)		probably benign	Het
Bicd2	T	A	13: 49,531,351 (GRCm39)		probably null	Het
Brip1	A	G	11: 86,034,131 (GRCm39)	L530P	possibly damaging	Het
Bsn	G	T	9: 107,988,559 (GRCm39)		probably benign	Het
Btnl4	T	A	17: 34,688,608 (GRCm39)	H390L	probably benign	Het
Ccdc70	A	C	8: 22,463,324 (GRCm39)	K38T	probably damaging	Het
Ccni	G	A	5: 93,350,175 (GRCm39)	P35S	probably benign	Het
Cdh17	A	G	4: 11,810,451 (GRCm39)	D714G	possibly damaging	Het
Cenpf	A	G	1: 189,386,181 (GRCm39)	L2033P	probably damaging	Het
Cfap69	A	T	5: 5,671,924 (GRCm39)	M328K	probably damaging	Het
Cmah	T	G	13: 24,601,193 (GRCm39)		probably null	Het
Cog6	T	C	3: 52,918,050 (GRCm39)	T163A	probably benign	Het
Cyp2j8	G	A	4: 96,389,433 (GRCm39)	S130F	probably benign	Het
Dgki	A	G	6: 36,989,831 (GRCm39)	V636A	probably damaging	Het
Dmkn	T	A	7: 30,464,211 (GRCm39)		probably benign	Het
Dnah6	A	G	6: 73,012,276 (GRCm39)	I3679T	possibly damaging	Het
Dsp	A	T	13: 38,380,740 (GRCm39)	Y2495F	possibly damaging	Het
Exosc4	C	T	15: 76,213,689 (GRCm39)	A171V	probably benign	Het
Fbxw24	A	G	9: 109,452,577 (GRCm39)		probably benign	Het
Flvcr1	A	T	1: 190,757,779 (GRCm39)	L171Q	probably damaging	Het
Fsd1	G	T	17: 56,303,445 (GRCm39)		probably null	Het
Gm7732	A	G	17: 21,350,106 (GRCm39)		noncoding transcript	Het
H2-K2	A	C	17: 34,194,597 (GRCm39)		noncoding transcript	Het
Ift88	T	A	14: 57,754,870 (GRCm39)	D811E	probably benign	Het
Igsf9b	T	A	9: 27,234,657 (GRCm39)		probably null	Het
Immt	T	A	6: 71,840,156 (GRCm39)	V311E	probably damaging	Het
Ipo11	T	A	13: 107,056,119 (GRCm39)	N51I	possibly damaging	Het
Isy1	T	C	6: 87,796,158 (GRCm39)	K260E	probably damaging	Het
Jchain	T	G	5: 88,674,061 (GRCm39)	I28L	probably benign	Het
Jmjd1c	T	A	10: 67,054,725 (GRCm39)		probably null	Het
Kif13b	T	C	14: 64,989,111 (GRCm39)		probably benign	Het
Klhdc7b	T	C	15: 89,272,372 (GRCm39)	Y427H	possibly damaging	Het
Klhl8	T	C	5: 104,024,159 (GRCm39)		probably benign	Het
Lrp2	C	T	2: 69,341,292 (GRCm39)	D963N	probably damaging	Het
Ltbp3	G	T	19: 5,796,776 (GRCm39)		probably benign	Het
Ltf	C	A	9: 110,869,447 (GRCm39)	Q41K	probably benign	Het
Med4	T	A	14: 73,754,097 (GRCm39)	I148N	probably damaging	Het
Mlh3	T	G	12: 85,294,471 (GRCm39)	S1242R	possibly damaging	Het
Mllt6	T	C	11: 97,567,185 (GRCm39)		probably benign	Het
Mpdz	A	G	4: 81,210,710 (GRCm39)	I1712T	possibly damaging	Het
Mrgprb4	T	A	7: 47,848,301 (GRCm39)	H209L	probably benign	Het
Nkapl	A	T	13: 21,652,610 (GRCm39)	M1K	probably null	Het
Nmur2	T	A	11: 55,920,324 (GRCm39)		probably benign	Het
Nsun2	T	A	13: 69,691,816 (GRCm39)		probably benign	Het
Or10ag60	A	G	2: 87,438,271 (GRCm39)	I180V	probably benign	Het
Or8k35	G	A	2: 86,424,425 (GRCm39)	T249I	probably benign	Het
Ovgp1	T	C	3: 105,882,146 (GRCm39)		probably benign	Het
Pcdh8	A	G	14: 80,008,131 (GRCm39)	V144A	possibly damaging	Het
Pcnx3	G	A	19: 5,727,756 (GRCm39)		probably benign	Het
Pla2r1	C	A	2: 60,309,874 (GRCm39)	V570L	possibly damaging	Het
Plxnd1	C	A	6: 115,943,599 (GRCm39)	E1202D	possibly damaging	Het
Ppp1r37	T	C	7: 19,266,179 (GRCm39)	E529G	probably benign	Het
Prdm15	A	G	16: 97,613,833 (GRCm39)	F496L	possibly damaging	Het
Prlhr	G	T	19: 60,456,497 (GRCm39)	S23*	probably null	Het
Prlhr	A	T	19: 60,456,443 (GRCm39)	V41D	probably benign	Het
Prpf4	C	T	4: 62,332,777 (GRCm39)		probably benign	Het
Psg26	C	T	7: 18,209,160 (GRCm39)	R416H	probably benign	Het
Psg26	T	C	7: 18,212,212 (GRCm39)	H381R	probably benign	Het
Ralgds	T	G	2: 28,439,128 (GRCm39)	M717R	probably benign	Het
Rbms1	T	C	2: 60,672,756 (GRCm39)	N44D	probably damaging	Het
Rpa1	T	C	11: 75,209,227 (GRCm39)		probably benign	Het
Rprd2	T	C	3: 95,673,699 (GRCm39)	N568S	probably benign	Het
Rptor	A	G	11: 119,763,202 (GRCm39)	M929V	probably benign	Het
Rspo1	T	A	4: 124,900,942 (GRCm39)	C97S	possibly damaging	Het
Scin	C	T	12: 40,129,606 (GRCm39)	G396S	probably damaging	Het
Scn9a	T	C	2: 66,377,456 (GRCm39)	N409D	probably damaging	Het
Sf3b1	A	G	1: 55,058,544 (GRCm39)	I15T	probably damaging	Het
Sh3bp2	T	C	5: 34,712,839 (GRCm39)	V149A	probably damaging	Het
Slc39a12	T	A	2: 14,412,237 (GRCm39)		probably benign	Het
Sp9	G	T	2: 73,104,171 (GRCm39)	A242S	possibly damaging	Het
Srr	A	G	11: 74,801,891 (GRCm39)	V126A	possibly damaging	Het
Tatdn3	G	T	1: 190,785,046 (GRCm39)		probably benign	Het
Tex14	G	A	11: 87,390,439 (GRCm39)	V379I	probably benign	Het
Tmed6	T	C	8: 107,788,356 (GRCm39)	N197S	probably damaging	Het
Ttbk2	A	T	2: 120,575,641 (GRCm39)	I1043N	probably benign	Het
Ttbk2	G	A	2: 120,579,056 (GRCm39)	L689F	probably benign	Het
Ttn	A	G	2: 76,641,040 (GRCm39)	S5283P	probably damaging	Het
Ube3b	C	A	5: 114,540,616 (GRCm39)	S441*	probably null	Het
Ush2a	G	A	1: 188,530,027 (GRCm39)	C3272Y	probably damaging	Het
Vac14	T	A	8: 111,359,109 (GRCm39)	I95K	probably damaging	Het
Vangl2	G	A	1: 171,833,784 (GRCm39)	A433V	probably damaging	Het
Vwa5b1	A	T	4: 138,336,135 (GRCm39)	V153D	probably damaging	Het
Zfhx3	T	A	8: 109,682,282 (GRCm39)	D3240E	unknown	Het
Zfp945	A	G	17: 23,070,004 (GRCm39)	C632R	probably damaging	Het
Zfyve26	G	A	12: 79,312,576 (GRCm39)		probably benign	Het
Zyg11b	A	T	4: 108,099,273 (GRCm39)	I606N	possibly damaging	Het

Other mutations in Hgf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Hgf	APN	5	16,816,880 (GRCm39)	missense	possibly damaging	0.70
IGL00427:Hgf	APN	5	16,783,484 (GRCm39)	missense	probably benign	0.09
IGL00788:Hgf	APN	5	16,803,228 (GRCm39)	missense	probably damaging	0.99
IGL01290:Hgf	APN	5	16,809,844 (GRCm39)	missense	probably damaging	1.00
IGL01333:Hgf	APN	5	16,781,939 (GRCm39)	nonsense	probably null
IGL01568:Hgf	APN	5	16,769,812 (GRCm39)	missense	probably damaging	1.00
IGL02314:Hgf	APN	5	16,777,600 (GRCm39)	missense	probably damaging	0.99
IGL02328:Hgf	APN	5	16,803,219 (GRCm39)	missense	probably damaging	1.00
IGL02368:Hgf	APN	5	16,769,792 (GRCm39)	missense	possibly damaging	0.95
IGL02486:Hgf	APN	5	16,807,287 (GRCm39)	missense	probably damaging	1.00
IGL02654:Hgf	APN	5	16,766,049 (GRCm39)	missense	probably benign
Foiegras	UTSW	5	16,820,800 (GRCm39)	missense	probably benign	0.01
PIT4378001:Hgf	UTSW	5	16,816,860 (GRCm39)	missense	probably damaging	1.00
R0708:Hgf	UTSW	5	16,771,761 (GRCm39)	nonsense	probably null
R0710:Hgf	UTSW	5	16,771,761 (GRCm39)	nonsense	probably null
R0967:Hgf	UTSW	5	16,798,839 (GRCm39)	splice site	probably benign
R1181:Hgf	UTSW	5	16,823,923 (GRCm39)	missense	probably damaging	1.00
R1589:Hgf	UTSW	5	16,818,783 (GRCm39)	missense	probably damaging	1.00
R1705:Hgf	UTSW	5	16,820,800 (GRCm39)	missense	probably benign	0.01
R1983:Hgf	UTSW	5	16,766,010 (GRCm39)	missense	possibly damaging	0.53
R2021:Hgf	UTSW	5	16,781,919 (GRCm39)	missense	probably benign
R2441:Hgf	UTSW	5	16,809,788 (GRCm39)	missense	probably damaging	0.99
R4083:Hgf	UTSW	5	16,820,856 (GRCm39)	nonsense	probably null
R4084:Hgf	UTSW	5	16,820,856 (GRCm39)	nonsense	probably null
R4211:Hgf	UTSW	5	16,819,991 (GRCm39)	missense	probably damaging	0.99
R4388:Hgf	UTSW	5	16,819,941 (GRCm39)	missense	probably benign	0.12
R4394:Hgf	UTSW	5	16,823,949 (GRCm39)	nonsense	probably null
R4575:Hgf	UTSW	5	16,777,599 (GRCm39)	missense	probably benign
R5044:Hgf	UTSW	5	16,819,892 (GRCm39)	missense	probably benign	0.00
R5319:Hgf	UTSW	5	16,771,860 (GRCm39)	critical splice donor site	probably null
R5585:Hgf	UTSW	5	16,769,799 (GRCm39)	missense	possibly damaging	0.93
R5700:Hgf	UTSW	5	16,815,122 (GRCm39)	missense	probably damaging	1.00
R5814:Hgf	UTSW	5	16,807,305 (GRCm39)	missense	probably benign	0.19
R6125:Hgf	UTSW	5	16,803,159 (GRCm39)	missense	probably damaging	1.00
R6749:Hgf	UTSW	5	16,818,640 (GRCm39)	splice site	probably null
R6891:Hgf	UTSW	5	16,809,920 (GRCm39)	critical splice donor site	probably null
R6962:Hgf	UTSW	5	16,820,752 (GRCm39)	missense	probably benign	0.32
R7251:Hgf	UTSW	5	16,798,942 (GRCm39)	missense	possibly damaging	0.95
R7296:Hgf	UTSW	5	16,769,841 (GRCm39)	missense	probably benign	0.39
R7463:Hgf	UTSW	5	16,783,448 (GRCm39)	missense	probably benign	0.00
R7470:Hgf	UTSW	5	16,823,854 (GRCm39)	missense	probably benign	0.02
R7630:Hgf	UTSW	5	16,803,248 (GRCm39)	missense	probably benign	0.01
R7807:Hgf	UTSW	5	16,782,009 (GRCm39)	missense	probably damaging	0.99
R8098:Hgf	UTSW	5	16,766,059 (GRCm39)	missense	probably benign	0.04
R8120:Hgf	UTSW	5	16,818,779 (GRCm39)	missense	probably damaging	1.00
R8132:Hgf	UTSW	5	16,807,329 (GRCm39)	missense	probably damaging	1.00
R8499:Hgf	UTSW	5	16,771,854 (GRCm39)	missense	probably damaging	0.99
R8929:Hgf	UTSW	5	16,798,988 (GRCm39)	missense	probably benign	0.44
R9016:Hgf	UTSW	5	16,823,956 (GRCm39)	missense	probably damaging	1.00
R9126:Hgf	UTSW	5	16,765,979 (GRCm39)	missense	possibly damaging	0.95
R9197:Hgf	UTSW	5	16,766,059 (GRCm39)	missense	probably benign	0.04
R9347:Hgf	UTSW	5	16,809,921 (GRCm39)	critical splice donor site	probably null
R9478:Hgf	UTSW	5	16,766,029 (GRCm39)	missense	possibly damaging	0.70
R9696:Hgf	UTSW	5	16,777,534 (GRCm39)	missense	probably damaging	1.00
R9729:Hgf	UTSW	5	16,766,029 (GRCm39)	missense	probably damaging	0.97
R9732:Hgf	UTSW	5	16,820,748 (GRCm39)	missense	probably damaging	1.00
X0024:Hgf	UTSW	5	16,809,826 (GRCm39)	missense	probably damaging	1.00
Z1088:Hgf	UTSW	5	16,823,917 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATACATGCCATCTGCACACATGC -3'
(R):5'- AGCGAAAGCAGTCTTCCTCATTTCC -3'

Sequencing Primer
(F):5'- GAGGAAACTTGTCTTTAGGAATGAC -3'
(R):5'- TTGCAGCATTGCCTGAAAC -3'

Posted On

2013-07-30