Mutagenetix > Incidental Mutation

Incidental Mutation 'R2187:Mst1'

237879

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

040189-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2187 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108080436-108085003 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108084340 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 599 (Y599H)

Ref Sequence

ENSEMBL: ENSMUSP00000035211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035211] [ENSMUST00000159372] [ENSMUST00000160249] [ENSMUST00000160649] [ENSMUST00000162886] [ENSMUST00000178267] [ENSMUST00000193254]

AlphaFold

P26928

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035211
AA Change: Y599H

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000035211
Gene: ENSMUSG00000032591
AA Change: Y599H

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

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

unknown
Transcript: ENSMUST00000161253
AA Change: Y12H

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161673

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162886
AA Change: Y590H

PolyPhen 2 Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125175
Gene: ENSMUSG00000032591
AA Change: Y590H

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: 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: ENSMUST00000194083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192916

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194014

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

Coding Region Coverage

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

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310050C09Rik	A	G	3: 92,868,615	S254P	probably damaging	Het
Abcg1	T	A	17: 31,105,517	S245R	probably damaging	Het
AI597479	T	A	1: 43,100,823	W70R	probably damaging	Het
Ankrd55	A	G	13: 112,383,505	S575G	probably benign	Het
Bfsp2	T	A	9: 103,426,777	K343*	probably null	Het
Cant1	A	T	11: 118,408,841	Y227*	probably null	Het
Cd2bp2	T	C	7: 127,194,791	N109D	probably benign	Het
Chmp6	A	G	11: 119,916,736	E135G	possibly damaging	Het
Dsp	T	G	13: 38,176,407	S329R	probably damaging	Het
Epha5	A	T	5: 84,086,364	F767L	probably damaging	Het
Epha7	A	T	4: 28,942,648	T566S	possibly damaging	Het
Erap1	A	T	13: 74,662,405	I288F	probably damaging	Het
Erich6	A	G	3: 58,629,845		probably null	Het
Fbxo10	A	G	4: 45,058,531	V402A	probably benign	Het
Fndc1	T	A	17: 7,741,772	I1604F	probably damaging	Het
Foxd4	T	G	19: 24,899,855	Q327P	probably damaging	Het
Fxn	T	A	19: 24,280,489	N26I	probably benign	Het
Hsf5	G	T	11: 87,638,184	G582C	possibly damaging	Het
Itga8	A	G	2: 12,194,420	V522A	possibly damaging	Het
Lyst	C	T	13: 13,709,341	T2938I	possibly damaging	Het
Mib2	T	C	4: 155,654,933	E863G	possibly damaging	Het
Mrgpra9	A	G	7: 47,235,049	F290S	probably damaging	Het
Mylk4	T	C	13: 32,722,013	I165V	probably damaging	Het
Nipsnap2	T	C	5: 129,746,473		probably null	Het
Nol8	T	C	13: 49,661,999	Y528H	probably benign	Het
Nup93	T	A	8: 94,300,850	S295R	probably damaging	Het
Nutm2	A	T	13: 50,467,417	Q6L	probably benign	Het
Olfr11	A	T	13: 21,639,385	I46N	probably damaging	Het
Olfr1445	T	A	19: 12,884,255	C125S	probably damaging	Het
Olfr820	A	G	10: 130,017,688	E109G	probably damaging	Het
Olfr988	T	G	2: 85,353,915	S4R	probably benign	Het
Pip5k1a	A	T	3: 95,071,918	L189Q	probably damaging	Het
Plekha4	C	T	7: 45,549,274	R574C	probably damaging	Het
Ppp2cb	A	G	8: 33,610,677	E42G	possibly damaging	Het
Prkd3	T	A	17: 78,975,554	Q244L	probably benign	Het
Ptpn14	C	T	1: 189,863,228	R1023*	probably null	Het
Ptpra	A	G	2: 130,504,299	T127A	probably benign	Het
Rad54l2	ACCTCCTCCTCCTCCTCCTCCTCCTC	ACCTCCTCCTCCTCCTCCTCCTC	9: 106,753,992		probably benign	Het
Rasgrf1	T	C	9: 89,994,835	I751T	possibly damaging	Het
Rbm27	A	G	18: 42,325,957	K697R	probably damaging	Het
Rhoa	C	T	9: 108,335,153	T127M	probably benign	Het
Rnpepl1	A	G	1: 92,916,895	S370G	probably null	Het
Sdk1	C	T	5: 142,114,574	T1453I	probably damaging	Het
Sel1l2	A	G	2: 140,230,873	L614S	probably damaging	Het
Slc6a20b	T	A	9: 123,598,588	I419F	probably damaging	Het
Slc8a1	C	T	17: 81,648,553	S352N	possibly damaging	Het
Spta1	A	G	1: 174,192,966	D547G	probably damaging	Het
Tc2n	G	A	12: 101,706,544	T46I	probably damaging	Het
Terb1	T	A	8: 104,472,884	Y476F	probably benign	Het
Trim12a	T	A	7: 104,304,192	E237D	probably damaging	Het
Usp47	T	C	7: 112,067,191	L309P	probably damaging	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
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	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
R9574:Mst1	UTSW	9	108084854	nonsense	probably null
X0028:Mst1	UTSW	9	108082217	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGGGTACAATTAACCAGAACCCAC -3'
(R):5'- AGGCCACATGAAGGACTGTG -3'

Sequencing Primer
(F):5'- AAACCTGCAGAGGGTCCCAG -3'
(R):5'- CCACATGAAGGACTGTGTTATTGC -3'

Posted On

2014-10-02