Mutagenetix > Incidental Mutations

Incidental Mutation 'R3945:Mst1'

307658

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

040926-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3945 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108080436-108085003 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108084853 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 681 (C681Y)

Ref Sequence

ENSEMBL: ENSMUSP00000125175 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035211] [ENSMUST00000159372] [ENSMUST00000160249] [ENSMUST00000162886] [ENSMUST00000193254]

Predicted Effect

probably damaging
Transcript: ENSMUST00000035211
AA Change: C690Y

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

SMART Domains

Protein: ENSMUSP00000035211
Gene: ENSMUSG00000032591
AA Change: C690Y

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: 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

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: ENSMUST00000161253

Predicted Effect

probably damaging
Transcript: ENSMUST00000162886
AA Change: C681Y

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

SMART Domains

Protein: ENSMUSP00000125175
Gene: ENSMUSG00000032591
AA Change: C681Y

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

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: ENSMUST00000194083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194915

Meta Mutation Damage Score

0.9346

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (54/54)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,289,964	I2229T	probably damaging	Het
4930407I10Rik	T	C	15: 82,065,400	L1166P	probably damaging	Het
Actn4	T	C	7: 28,912,236		probably null	Het
Adamts17	A	T	7: 67,120,939	E905V	probably benign	Het
Adck5	A	G	15: 76,595,200	N485S	probably damaging	Het
Agr3	C	A	12: 35,947,513		probably benign	Het
Ankrd12	G	A	17: 65,976,103	T1921I	probably damaging	Het
Ascl2	T	C	7: 142,967,971	S247G	probably benign	Het
Atp7b	T	C	8: 22,020,864	E422G	probably benign	Het
C630050I24Rik	C	T	8: 107,119,262	R15*	probably null	Het
Cabin1	T	G	10: 75,745,259	Q411P	probably damaging	Het
Chrne	T	C	11: 70,617,043	I277V	possibly damaging	Het
Coch	A	G	12: 51,601,812		probably null	Het
Corin	A	G	5: 72,358,424	V429A	probably damaging	Het
Cpa3	A	T	3: 20,225,117	N219K	probably damaging	Het
Creb3l1	T	C	2: 91,991,211	E273G	probably damaging	Het
Csmd1	A	C	8: 15,910,619		probably null	Het
Ddx59	A	G	1: 136,434,618	D527G	probably damaging	Het
Defa25	G	A	8: 21,084,490	V17I	probably null	Het
Efs	A	G	14: 54,920,651		probably benign	Het
Ern2	A	G	7: 122,176,530	M447T	probably benign	Het
Fgfr2	C	T	7: 130,177,755	E596K	possibly damaging	Het
Filip1	T	C	9: 79,818,367	K990R	probably benign	Het
Ipo8	T	A	6: 148,818,117	Q110L	probably damaging	Het
Kank4	T	A	4: 98,771,280	I854F	probably damaging	Het
Nr2c2	C	T	6: 92,163,138	R464W	probably damaging	Het
Olfr1289	C	T	2: 111,483,687	Q86*	probably null	Het
Olfr1496	A	G	19: 13,781,422	E270G	probably benign	Het
Pde11a	T	C	2: 76,075,931		probably benign	Het
Ptprq	A	G	10: 107,686,392		probably benign	Het
Rcbtb1	G	A	14: 59,224,776		probably null	Het
Rpl37	G	A	15: 5,117,694	R72H	probably benign	Het
Samd9l	A	T	6: 3,377,029	S77R	possibly damaging	Het
Sin3b	A	G	8: 72,733,439	D218G	possibly damaging	Het
Slc22a23	A	G	13: 34,183,126	I633T	probably damaging	Het
Spen	T	C	4: 141,477,353	D1321G	unknown	Het
Ssh2	T	C	11: 77,454,668	S1160P	possibly damaging	Het
Synrg	T	A	11: 84,023,406	D952E	probably damaging	Het
Tigd3	A	G	19: 5,892,433	F223S	probably damaging	Het
Trim66	G	A	7: 109,472,268	T608I	possibly damaging	Het
Trmt13	A	G	3: 116,581,518	F447S	probably damaging	Het
Trpc2	T	C	7: 102,088,279	I800T	possibly damaging	Het
Ugt3a2	A	T	15: 9,370,098	I443F	possibly damaging	Het
Vamp2	C	A	11: 69,089,174	P24Q	unknown	Het
Vmn1r113	A	G	7: 20,787,712	Y143C	probably benign	Het
Vmn1r14	T	A	6: 57,234,269	N277K	probably benign	Het
Vmn1r181	T	A	7: 23,984,152	V14E	probably damaging	Het
Wdfy4	A	T	14: 32,966,395	I3086N	probably damaging	Het
Zfp988	A	C	4: 147,332,785	K559Q	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
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	splice site	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
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'- GCTTGGGAGCTGAAATTATAGTAC -3'
(R):5'- TAAGCCACACAGCCTCTTGC -3'

Sequencing Primer
(F):5'- AGCTGAAATTATAGTACTTGATTGCC -3'
(R):5'- ACAGCCTCTTGCAAGGAGTC -3'

Posted On

2015-04-17