Mutagenetix > Incidental Mutations

Incidental Mutation 'R7139:Mst1'

553277

Institutional Source

Beutler Lab

Gene Symbol

Mst1

Ensembl Gene

ENSMUSG00000032591

Gene Name

macrophage stimulating 1 (hepatocyte growth factor-like)

Synonyms

D9H3F15S2, DNF15S2h, D3F15S2h, Hgfl

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7139 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108080436-108085003 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108082828 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 328 (R328H)

Ref Sequence

ENSEMBL: ENSMUSP00000125175 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035211
AA Change: R337H

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000035211
Gene: ENSMUSG00000032591
AA Change: R337H

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 damaging
Transcript: ENSMUST00000162886
AA Change: R328H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125175
Gene: ENSMUSG00000032591
AA Change: R328H

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: ENSMUST00000194915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192916

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184227

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 147,941,838	R272G	possibly damaging	Het
4930512M02Rik	T	A	11: 11,590,078	N179Y	unknown	Het
4930562C15Rik	A	T	16: 4,850,184	M480L	probably benign	Het
Abcd4	A	G	12: 84,606,298	C377R	probably benign	Het
Adam23	C	A	1: 63,545,577	D381E	probably damaging	Het
Angpt1	T	A	15: 42,676,351	Q37H	probably damaging	Het
Apeh	A	T	9: 108,092,146	F260I	probably damaging	Het
Cadps2	T	C	6: 23,410,889	Y681C	probably damaging	Het
Ccdc162	T	C	10: 41,666,721	M386V	possibly damaging	Het
Celsr2	T	C	3: 108,415,359	S46G	unknown	Het
Cfc1	T	C	1: 34,536,479	L78P	probably benign	Het
Chd7	T	C	4: 8,865,865	V2724A	probably benign	Het
Clca3a1	A	T	3: 144,755,302	V196E	possibly damaging	Het
Cma1	T	C	14: 55,943,816	H44R	probably damaging	Het
Cnot2	T	C	10: 116,495,019	N394S	probably benign	Het
Cstf3	A	T	2: 104,653,064	I372F	possibly damaging	Het
Cyb5rl	A	C	4: 107,071,011	I115L	probably benign	Het
D5Ertd579e	A	G	5: 36,613,976	L1025P	probably damaging	Het
Dmtn	T	C	14: 70,617,427	N36S	probably benign	Het
Dnah6	A	G	6: 73,135,680	V1647A	probably damaging	Het
Dock6	T	C	9: 21,801,276	Y2063C	probably damaging	Het
Dst	T	A	1: 34,299,807	D5149E	probably damaging	Het
Fancl	A	G	11: 26,403,358	M85V	probably benign	Het
Fgd2	T	A	17: 29,373,255	F387Y	probably damaging	Het
Fshr	A	T	17: 88,986,161	I363N	possibly damaging	Het
Glce	G	T	9: 62,070,434	S56*	probably null	Het
Gm26727	A	T	2: 67,433,037	S49T	unknown	Het
Gm36210	T	A	7: 4,899,278	D131V	probably damaging	Het
Gm5089	T	C	14: 122,435,991	D106G	unknown	Het
Gm5622	G	T	14: 51,655,882	E89*	probably null	Het
Gm9573	TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT	TCCTGAGGCAGTGCTGGAT	17: 35,622,633		probably benign	Het
H2afy2	T	A	10: 61,757,895	M1L	unknown	Het
H2-Eb2	C	T	17: 34,334,421	R194W	probably benign	Het
Hivep1	A	T	13: 42,159,954	E1890V	probably benign	Het
Ighv1-53	A	T	12: 115,158,821	C5*	probably null	Het
Ighv2-5	T	A	12: 113,685,599	Y78F	probably benign	Het
Il9	C	T	13: 56,480,613	V88I	probably benign	Het
Kidins220	A	G	12: 24,994,821	T163A	probably damaging	Het
Lama4	G	T	10: 39,075,495	D1079Y	probably damaging	Het
Lman1l	A	T	9: 57,615,596	H160Q	probably benign	Het
Lrrc34	T	C	3: 30,624,887	I354V	probably benign	Het
Mpeg1	A	T	19: 12,461,714	T179S	probably benign	Het
Mrgpra2a	A	T	7: 47,426,589	L307H	probably damaging	Het
Nav3	C	A	10: 109,853,477	S313I	probably benign	Het
Nmt2	T	G	2: 3,284,315	S7A	probably benign	Het
Nsmce1	T	C	7: 125,469,082	S197G	probably benign	Het
Ociad2	A	G	5: 73,335,875	V4A	probably benign	Het
Olfr680-ps1	G	T	7: 105,092,798	T7K	probably benign	Het
Osmr	T	C	15: 6,821,088	D679G	possibly damaging	Het
Pappa	T	A	4: 65,189,450	F699L	probably benign	Het
Parp8	T	A	13: 117,025,266	M40L	probably benign	Het
Pcyox1	A	T	6: 86,394,537	N122K	possibly damaging	Het
Pkd1l1	T	C	11: 8,890,737	S1224G		Het
Pkd1l3	T	A	8: 109,636,340	S1088T	probably damaging	Het
Prrt1	T	C	17: 34,631,077	V155A	probably benign	Het
Rbm6	A	C	9: 107,853,211	D79E	probably damaging	Het
Sec31b	A	T	19: 44,518,936	S819T	probably benign	Het
Slc22a27	A	T	19: 7,926,547	I75N	probably damaging	Het
Slc25a54	G	A	3: 109,098,589	G138R	probably damaging	Het
Slc6a12	T	C	6: 121,365,319	S612P	probably benign	Het
Slc7a2	A	T	8: 40,915,013	I605F	probably benign	Het
Slit2	A	G	5: 48,244,683	T805A	probably benign	Het
Strbp	A	T	2: 37,624,502	H308Q	probably benign	Het
Stxbp4	G	A	11: 90,607,009	Q155*	probably null	Het
Sybu	A	T	15: 44,677,714	N317K	possibly damaging	Het
Taok1	G	A	11: 77,571,633	S210F	probably damaging	Het
Tapbp	A	G	17: 33,920,048	D72G	possibly damaging	Het
Thbd	G	T	2: 148,406,541	T469K	probably benign	Het
Tia1	T	C	6: 86,427,688	Y302H	possibly damaging	Het
Tlr4	T	C	4: 66,840,283	F438L	probably benign	Het
Tmem235	C	T	11: 117,860,897	S49L	probably damaging	Het
Trip4	A	G	9: 65,885,221		probably benign	Het
Trrap	C	A	5: 144,803,178	L1137I	possibly damaging	Het
Vmo1	T	C	11: 70,513,848	E109G	probably benign	Het
Wdfy4	T	C	14: 33,151,578	Y258C		Het
Wdr91	T	G	6: 34,908,263	N121T	possibly damaging	Het
Zfp39	T	C	11: 58,890,559	H459R	probably damaging	Het
Zfp936	T	A	7: 43,190,291	I394K	possibly damaging	Het
Zpr1	G	A	9: 46,281,059	D423N	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
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	splice site	probably null
R7059:Mst1	UTSW	9	108084064	missense	probably benign	0.44
R7131:Mst1	UTSW	9	108084931	missense	probably null	0.07
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'- GCTTGCAAGTGAGGTGACAG -3'
(R):5'- ATACTGTTCACCTGAGCCGTG -3'

Sequencing Primer
(F):5'- GTGACAGGCCGGAGCAG -3'
(R):5'- TGAGCCGTGGTAGCATCCTG -3'

Posted On

2019-05-15