Mutagenetix > Incidental Mutations

Incidental Mutation 'R6717:Mst1'

543563

Institutional Source

Beutler Lab

Gene Symbol

Mst1

Ensembl Gene

ENSMUSG00000032591

Gene Name

macrophage stimulating 1 (hepatocyte growth factor-like)

Synonyms

D9H3F15S2, DNF15S2h, D3F15S2h, Hgfl

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6717 (G1)

Quality Score

158.009

Status

Validated

Chromosome

Chromosomal Location

108080436-108085003 bp(+) (GRCm38)

Type of Mutation

splice site (2249 bp from exon)

DNA Base Change (assembly)

T to C at 108080575 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123933 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035211] [ENSMUST00000159372] [ENSMUST00000160249] [ENSMUST00000162886]

Predicted Effect

probably benign
Transcript: ENSMUST00000035211

SMART Domains

Protein: ENSMUSP00000035211
Gene: ENSMUSG00000032591

Domain	Start	End	E-Value	Type
PAN_AP	21	104	2.65e-9	SMART
KR	108	188	3.13e-39	SMART
KR	189	270	8.57e-46	SMART
KR	290	372	7.94e-41	SMART
KR	377	459	6.59e-47	SMART
Tryp_SPc	488	709	2.27e-55	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000159372

Predicted Effect

probably benign
Transcript: ENSMUST00000160184

Predicted Effect

probably benign
Transcript: ENSMUST00000160249

SMART Domains

Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528

Domain	Start	End	E-Value	Type
low complexity region	104	115	N/A	INTRINSIC
SPRY	132	253	1.52e-28	SMART
low complexity region	471	488	N/A	INTRINSIC
low complexity region	508	518	N/A	INTRINSIC
coiled coil region	1041	1061	N/A	INTRINSIC
low complexity region	1236	1245	N/A	INTRINSIC
RING	1254	1291	5.27e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162886

SMART Domains

Protein: ENSMUSP00000125175
Gene: ENSMUSG00000032591

Domain	Start	End	E-Value	Type
PAN_AP	21	104	2.65e-9	SMART
KR	108	188	3.13e-39	SMART
KR	189	270	1.07e-46	SMART
KR	281	363	7.94e-41	SMART
KR	368	450	6.59e-47	SMART
Tryp_SPc	479	700	2.27e-55	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

98% (47/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains four kringle domains and a serine protease domain, similar to that found in hepatic growth factor. Despite the presence of the serine protease domain, the encoded protein may not have any proteolytic activity. The receptor for this protein is RON tyrosine kinase, which upon activation stimulates ciliary motility of ciliated epithelial lung cells. This protein is secreted and cleaved to form an alpha chain and a beta chain bridged by disulfide bonds. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lipid-filled cytoplasmic vacuoles in hepatocytes throughout the liver lobules. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	C	T	5: 4,064,086	L3122F	probably damaging	Het
Atp6v1b1	A	T	6: 83,753,650		probably null	Het
Ccdc178	A	T	18: 22,020,889	V621E	probably damaging	Het
Cfap126	T	C	1: 171,114,102		probably null	Het
Cog2	T	C	8: 124,525,749	I64T	probably damaging	Het
Dhx9	A	C	1: 153,473,464		probably null	Het
Efcab7	A	G	4: 99,904,734	D407G	possibly damaging	Het
Eif2b5	G	T	16: 20,505,283	G459C	probably damaging	Het
Eml5	T	C	12: 98,827,506	E1168G	probably damaging	Het
Flnc	AGCTGTCAAGTATGCTG	AGCTG	6: 29,450,902		probably benign	Het
Fry	A	G	5: 150,496,312	T980A	probably benign	Het
Gabbr2	A	G	4: 46,787,574	V363A	possibly damaging	Het
Ggt6	T	A	11: 72,437,520	L244*	probably null	Het
Gm13119	G	T	4: 144,362,657	V182L	probably benign	Het
Gprc6a	T	A	10: 51,615,137	I768F	probably damaging	Het
Grk1	G	A	8: 13,416,237	M560I	probably benign	Het
Hapln4	G	A	8: 70,085,090	E145K	probably damaging	Het
Hoxd9	C	T	2: 74,698,389	P112S	probably benign	Het
Ly6g6f	T	A	17: 35,085,574	M1L	probably benign	Het
Mast1	T	C	8: 84,917,754	T849A	probably benign	Het
Mob4	A	T	1: 55,136,713	M39L	possibly damaging	Het
Mrgpre	A	T	7: 143,781,523	L81Q	probably damaging	Het
Muc5b	A	T	7: 141,857,822	R1502*	probably null	Het
Olfr1020	T	A	2: 85,850,223	I257N	probably damaging	Het
Olfr142	T	A	2: 90,252,524	I155L	probably benign	Het
Olfr311	T	C	11: 58,841,287	Y58H	probably damaging	Het
Pdc	A	G	1: 150,333,018	D84G	probably damaging	Het
Peak1	T	C	9: 56,207,239	N443D	probably benign	Het
Pkd1l3	T	A	8: 109,614,769	W85R	unknown	Het
Rfc1	A	G	5: 65,312,961	S68P	probably damaging	Het
Rfc1	G	A	5: 65,302,004	Q190*	probably null	Het
Rnf145	T	C	11: 44,561,490	V432A	probably benign	Het
Ror2	A	G	13: 53,118,982	S204P	probably damaging	Het
Scn1a	T	C	2: 66,332,287	E205G	probably damaging	Het
Slc2a8	A	C	2: 32,976,177	M277R	probably damaging	Het
Slc4a1	T	C	11: 102,354,423	Y566C	probably damaging	Het
Slc6a12	A	G	6: 121,354,303	N185S	probably benign	Het
Srcap	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	7: 127,558,310		probably benign	Het
Stk33	T	A	7: 109,327,616	T279S	possibly damaging	Het
Taok3	A	G	5: 117,240,950		probably benign	Het
Tlr11	A	G	14: 50,362,104	T516A	probably benign	Het
Tmem132c	T	A	5: 127,564,029	L1088Q	possibly damaging	Het
Tmem132d	T	A	5: 127,784,421	M879L	probably benign	Het
Tnk2	A	G	16: 32,670,869	E322G	probably damaging	Het
Ttc28	T	C	5: 111,285,436	V2081A	probably benign	Het
Ttn	C	T	2: 76,794,409		probably null	Het
Zfp105	T	C	9: 122,930,308	V348A	possibly damaging	Het
Zswim2	T	C	2: 83,915,409	R562G	probably benign	Het

Other mutations in Mst1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01364:Mst1	APN	9	108081601	missense	probably benign	0.03
IGL01380:Mst1	APN	9	108084588	missense	probably damaging	1.00
IGL01420:Mst1	APN	9	108082828	missense	probably damaging	0.99
IGL02931:Mst1	APN	9	108084642	splice site	probably null
IGL03059:Mst1	APN	9	108084813	missense	probably damaging	1.00
IGL03275:Mst1	APN	9	108084388	missense	possibly damaging	0.70
R0319:Mst1	UTSW	9	108082513	missense	probably benign	0.05
R0361:Mst1	UTSW	9	108084897	missense	probably damaging	0.98
R0412:Mst1	UTSW	9	108083594	missense	probably benign	0.06
R0569:Mst1	UTSW	9	108082301	missense	probably damaging	0.98
R1432:Mst1	UTSW	9	108084204	missense	probably benign	0.01
R1483:Mst1	UTSW	9	108081650	missense	probably benign	0.03
R1859:Mst1	UTSW	9	108084346	missense	probably benign	0.23
R2187:Mst1	UTSW	9	108084340	missense	possibly damaging	0.63
R2393:Mst1	UTSW	9	108082952	critical splice donor site	probably null
R3522:Mst1	UTSW	9	108081503	unclassified	probably benign
R3916:Mst1	UTSW	9	108084295	missense	probably benign	0.00
R3917:Mst1	UTSW	9	108084295	missense	probably benign	0.00
R3945:Mst1	UTSW	9	108084853	missense	probably damaging	1.00
R4006:Mst1	UTSW	9	108082948	missense	possibly damaging	0.52
R4007:Mst1	UTSW	9	108082948	missense	possibly damaging	0.52
R4737:Mst1	UTSW	9	108080521	missense	probably benign	0.00
R4756:Mst1	UTSW	9	108083627	missense	probably benign	0.28
R5047:Mst1	UTSW	9	108084309	missense	probably benign	0.17
R5113:Mst1	UTSW	9	108082247	missense	probably damaging	1.00
R5278:Mst1	UTSW	9	108082215	missense	probably damaging	0.99
R5279:Mst1	UTSW	9	108082215	missense	probably damaging	0.99
R5402:Mst1	UTSW	9	108084209	critical splice donor site	probably null
R5677:Mst1	UTSW	9	108081286	missense	probably damaging	0.98
R5712:Mst1	UTSW	9	108082908	missense	probably damaging	1.00
R7059:Mst1	UTSW	9	108084064	missense	probably benign	0.44
R7131:Mst1	UTSW	9	108084931	missense	probably null	0.07
R7139:Mst1	UTSW	9	108082828	missense	probably damaging	0.99
R7219:Mst1	UTSW	9	108081286	missense	probably damaging	0.99
R7501:Mst1	UTSW	9	108082549	missense	probably damaging	1.00
R7878:Mst1	UTSW	9	108084613	missense	probably benign
R8304:Mst1	UTSW	9	108081604	missense	probably benign
R8397:Mst1	UTSW	9	108081499	critical splice donor site	probably benign
R8715:Mst1	UTSW	9	108082043	missense	possibly damaging	0.95
X0028:Mst1	UTSW	9	108082217	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTATGTGTCAGTCAAGTCCAGG -3'
(R):5'- GTTGAAAGACTGCCTCTGGG -3'

Sequencing Primer
(F):5'- TCAGTCAAGTCCAGGCAGGTTC -3'
(R):5'- CTGGGCTACAGTATGCTCTAATG -3'

Posted On

2019-03-06