Mutagenetix > Incidental Mutations

Incidental Mutation 'R1483:Mst1'

165711

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

039536-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1483 (G1)

Quality Score

223

Status

Not validated

Chromosome

Chromosomal Location

108080436-108085003 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 108081650 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 127 (G127V)

Ref Sequence

ENSEMBL: ENSMUSP00000125175 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035211] [ENSMUST00000047746] [ENSMUST00000159372] [ENSMUST00000160249] [ENSMUST00000160649] [ENSMUST00000161828] [ENSMUST00000162355] [ENSMUST00000162516] [ENSMUST00000162886] [ENSMUST00000174504] [ENSMUST00000178267] [ENSMUST00000193254]

Predicted Effect

probably benign
Transcript: ENSMUST00000035211
AA Change: G127V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000035211
Gene: ENSMUSG00000032591
AA Change: G127V

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 benign
Transcript: ENSMUST00000047746

SMART Domains

Protein: ENSMUSP00000040803
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	1047	1067	N/A	INTRINSIC
low complexity region	1242	1251	N/A	INTRINSIC
RING	1260	1297	5.27e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000081309

SMART Domains

Protein: ENSMUSP00000080058
Gene: ENSMUSG00000032590

Domain	Start	End	E-Value	Type
Pfam:DLH	485	721	2e-8	PFAM
Pfam:Abhydrolase_1	501	633	3.8e-9	PFAM
Pfam:Abhydrolase_5	501	708	5e-16	PFAM
Pfam:Peptidase_S9	516	732	1.6e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159136

Predicted Effect

probably benign
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: ENSMUST00000160649

SMART Domains

Protein: ENSMUSP00000125495
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

Predicted Effect

probably benign
Transcript: ENSMUST00000161253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161673

Predicted Effect

probably benign
Transcript: ENSMUST00000161828

Predicted Effect

probably benign
Transcript: ENSMUST00000162355

SMART Domains

Protein: ENSMUSP00000125745
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	1047	1067	N/A	INTRINSIC
low complexity region	1242	1251	N/A	INTRINSIC
RING	1260	1297	5.27e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162516

Predicted Effect

probably benign
Transcript: ENSMUST00000162886
AA Change: G127V

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000125175
Gene: ENSMUSG00000032591
AA Change: G127V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174504

Predicted Effect

probably benign
Transcript: ENSMUST00000178267

SMART Domains

Protein: ENSMUSP00000136953
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

noncoding transcript
Transcript: ENSMUST00000184227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192916

Predicted Effect

probably benign
Transcript: ENSMUST00000193254

SMART Domains

Protein: ENSMUSP00000141856
Gene: ENSMUSG00000032590

Domain	Start	End	E-Value	Type
Pfam:DLH	485	721	4.8e-8	PFAM
Pfam:Abhydrolase_5	501	708	5.7e-16	PFAM
Pfam:Abhydrolase_6	503	714	6.2e-14	PFAM
Pfam:Peptidase_S9	515	732	1.4e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194915

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.0%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	T	13: 59,742,903	S368T	probably damaging	Het
9930021J03Rik	G	A	19: 29,719,345	P916L	possibly damaging	Het
Adam12	T	A	7: 133,930,025	T494S	probably benign	Het
Akap6	C	T	12: 52,796,087	P73S	probably damaging	Het
Amotl2	A	T	9: 102,730,897	T763S	probably benign	Het
C87499	T	A	4: 88,628,834	Q116L	probably damaging	Het
Cdc5l	A	T	17: 45,408,364	V541D	possibly damaging	Het
Chl1	A	G	6: 103,647,287	Y52C	probably damaging	Het
D6Wsu163e	A	G	6: 126,954,770	E255G	probably benign	Het
Ddhd2	A	G	8: 25,753,128	S126P	probably benign	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,585,549		probably benign	Het
Drc3	A	G	11: 60,388,889	I427V	probably benign	Het
Drg2	T	C	11: 60,459,527	I104T	probably damaging	Het
Dst	C	T	1: 34,252,998	A932V	probably damaging	Het
Ecm1	G	A	3: 95,735,963	R342C	probably damaging	Het
Eif3a	A	T	19: 60,768,726	D880E	unknown	Het
Elf1	T	A	14: 79,580,638	D569E	probably benign	Het
Esp6	T	A	17: 40,562,925	M1K	probably null	Het
Fer1l6	T	C	15: 58,637,970	V1427A	possibly damaging	Het
Gm17689	G	A	9: 36,581,324	S95L	probably benign	Het
Gsta1	A	T	9: 78,242,493	K196M	probably damaging	Het
Gzme	T	A	14: 56,118,712	I110F	probably damaging	Het
H2-DMa	T	A	17: 34,135,750	V27E	possibly damaging	Het
H2-T10	A	T	17: 36,121,146	S2T	probably benign	Het
Hadhb	A	G	5: 30,169,494		probably null	Het
Hoxa11	G	T	6: 52,243,456	D282E	probably damaging	Het
Ifit1bl1	A	G	19: 34,594,641	Y139H	possibly damaging	Het
Ift27	A	G	15: 78,165,236	V88A	possibly damaging	Het
Knop1	C	T	7: 118,853,050	A149T	probably damaging	Het
Macf1	T	A	4: 123,510,977	K597I	probably damaging	Het
Med16	A	T	10: 79,903,100	I284N	possibly damaging	Het
Melk	T	A	4: 44,308,937	I98K	probably damaging	Het
Nacad	A	G	11: 6,602,217	S325P	probably damaging	Het
Nbea	G	A	3: 56,002,790	P1328L	probably benign	Het
Nek5	C	T	8: 22,096,790	S335N	probably benign	Het
Nif3l1	C	A	1: 58,447,726	R24S	probably benign	Het
Nlrp14	T	G	7: 107,190,122	N39K	possibly damaging	Het
Nup50	T	A	15: 84,939,727	V427D	probably damaging	Het
Nwd1	C	T	8: 72,657,086	P78L	probably damaging	Het
Olfr1431	T	A	19: 12,209,750	Y61*	probably null	Het
Pnkd	A	G	1: 74,349,391	Y242C	probably benign	Het
Ppm1g	T	C	5: 31,203,121	D423G	probably benign	Het
Prkci	A	T	3: 31,043,792	N464Y	probably damaging	Het
Ptprf	C	T	4: 118,235,964	V494M	possibly damaging	Het
Rapgef4	T	G	2: 72,055,026		probably null	Het
Rbak	T	C	5: 143,174,344	E318G	probably damaging	Het
Rora	A	G	9: 69,364,385	D215G	probably benign	Het
Rp1l1	C	T	14: 64,029,047	T694I	possibly damaging	Het
Scrib	A	G	15: 76,057,922	L1032P	probably damaging	Het
Sectm1b	G	A	11: 121,055,826	T81M	probably benign	Het
Sgk3	T	C	1: 9,872,293	F97L	possibly damaging	Het
Socs3	A	T	11: 117,967,568	Y221*	probably null	Het
Tdrd6	T	A	17: 43,627,607	H850L	probably benign	Het
Tex44	G	T	1: 86,427,186	Q272H	probably damaging	Het
Tgfbr2	A	C	9: 116,109,557	S426A	probably benign	Het
Tmem39b	T	C	4: 129,676,663	Y461C	probably damaging	Het
Ttn	T	A	2: 76,724,993	D30556V	probably damaging	Het
Tubgcp5	T	A	7: 55,825,707		probably null	Het
Vmn2r70	T	C	7: 85,559,167	I701V	probably benign	Het
Vps39	A	T	2: 120,323,648	L622Q	probably damaging	Het
Wdfy4	T	A	14: 33,100,966	H1347L	probably benign	Het
Xpo1	A	G	11: 23,284,863	I540V	probably benign	Het
Xylt2	A	C	11: 94,669,567	M294R	probably benign	Het
Zfp788	T	G	7: 41,649,075	Y326*	probably null	Het
Zim1	A	G	7: 6,682,125	F109L	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	intron	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
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
R6717:Mst1	UTSW	9	108080575	intron	probably null
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
X0028:Mst1	UTSW	9	108082217	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGCCTTCCACTACAACATGAGCAG -3'
(R):5'- TTGATTGACCCCAGCCGCTTAC -3'

Sequencing Primer
(F):5'- GAGTCTGTGCCATCTCTTCCAG -3'
(R):5'- CATCAGGGTTCCTACAGAAGTTC -3'

Posted On

2014-03-28