Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01380:Mst1'

78816

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01380

Quality Score

Status

Chromosome

Chromosomal Location

108080436-108085003 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108084588 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 640 (E640K)

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: E649K

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

SMART Domains

Protein: ENSMUSP00000035211
Gene: ENSMUSG00000032591
AA Change: E649K

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: ENSMUST00000161253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161673

Predicted Effect

probably damaging
Transcript: ENSMUST00000162886
AA Change: E640K

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

SMART Domains

Protein: ENSMUSP00000125175
Gene: ENSMUSG00000032591
AA Change: E640K

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

noncoding transcript
Transcript: ENSMUST00000194915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194083

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

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	A	17: 46,324,022	V352L	possibly damaging	Het
Ankrd44	A	T	1: 54,727,565	M488K	probably benign	Het
Ano8	A	G	8: 71,480,809		probably benign	Het
Atp2a1	T	A	7: 126,448,770	M623L	possibly damaging	Het
Atxn10	G	T	15: 85,376,695	E214*	probably null	Het
Btla	A	C	16: 45,250,353	D225A	probably benign	Het
C030048H21Rik	G	A	2: 26,256,647	Q1218*	probably null	Het
C130079G13Rik	A	G	3: 59,932,632	T42A	probably benign	Het
Cacna1a	A	G	8: 84,559,117	Y750C	probably damaging	Het
Ccdc15	A	T	9: 37,276,557		probably benign	Het
Ccdc18	T	A	5: 108,180,887	I724N	probably damaging	Het
Cluh	T	A	11: 74,665,946	F937L	probably benign	Het
Clybl	G	T	14: 122,379,349	A259S	probably benign	Het
Cyp4f39	T	G	17: 32,481,858	I167S	probably damaging	Het
Dchs1	T	A	7: 105,762,211	D1566V	probably damaging	Het
Dnah3	C	T	7: 119,926,564	A3867T	probably damaging	Het
Dtwd1	T	A	2: 126,159,927	L189Q	probably benign	Het
Dusp10	T	C	1: 184,069,014	I326T	possibly damaging	Het
Eaf1	T	A	14: 31,497,810		probably benign	Het
Eif3c	C	T	7: 126,564,413		probably benign	Het
Fam169a	C	T	13: 97,091,951	T44M	probably damaging	Het
Fam184a	T	C	10: 53,694,686		probably benign	Het
Fam25c	C	T	14: 34,353,698	A46T	probably null	Het
Gckr	A	G	5: 31,299,633		probably benign	Het
Gfra2	G	T	14: 70,967,146		probably benign	Het
Gm8237	A	T	14: 5,863,703		probably null	Het
H2-Eb2	G	T	17: 34,335,809	L228F	probably benign	Het
Igf2r	T	C	17: 12,695,374	N1736S	probably benign	Het
Izumo1	T	G	7: 45,627,095	S361A	probably benign	Het
Klri1	T	C	6: 129,698,798	I170V	probably benign	Het
L3mbtl2	C	T	15: 81,671,125	A193V	possibly damaging	Het
Lats1	T	A	10: 7,691,780	M105K	possibly damaging	Het
Lrpprc	T	C	17: 84,722,730	D1080G	probably benign	Het
Lrrc74a	A	T	12: 86,761,722	M425L	possibly damaging	Het
Mfsd13a	G	T	19: 46,367,908	D151Y	probably damaging	Het
Napsa	T	C	7: 44,586,674	V379A	probably damaging	Het
Olfr1	A	T	11: 73,395,191	M277K	probably damaging	Het
Olfr371	A	T	8: 85,231,329	Y278F	possibly damaging	Het
Olfr371	C	A	8: 85,231,146	S217Y	probably damaging	Het
Olfr544	C	T	7: 102,484,385	C245Y	probably damaging	Het
Otop3	T	C	11: 115,346,411	V567A	probably damaging	Het
Oxsr1	A	T	9: 119,260,101		probably benign	Het
Pak2	A	T	16: 32,041,544	V167E	probably benign	Het
Pcdhb16	A	G	18: 37,479,445	H486R	probably benign	Het
Plekha5	C	T	6: 140,570,316		probably benign	Het
Rbm6	T	C	9: 107,788,349	D616G	probably damaging	Het
Sf3b1	T	C	1: 54,987,949	Y1249C	probably damaging	Het
Sipa1l3	T	C	7: 29,331,372	H534R	possibly damaging	Het
Slco1c1	T	C	6: 141,540,051	Y136H	probably damaging	Het
Smarca4	A	G	9: 21,679,073	M1333V	probably benign	Het
Smc4	A	G	3: 69,025,828	D54G	probably damaging	Het
Spag5	T	A	11: 78,304,617	V250E	possibly damaging	Het
Stxbp4	A	G	11: 90,621,649		probably benign	Het
Suv39h2	T	A	2: 3,464,259		probably benign	Het
Taar8b	T	A	10: 24,092,107	H63L	probably damaging	Het
Tex2	G	A	11: 106,544,315	Q264*	probably null	Het
Thnsl2	A	C	6: 71,138,756	S156A	probably benign	Het
Tmtc4	G	T	14: 122,925,954		probably benign	Het
Usp25	T	C	16: 77,093,678	L758P	probably benign	Het
Zfyve1	G	A	12: 83,552,507	R144C	probably damaging	Het
Zpld1	A	G	16: 55,251,770	V42A	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
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
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

Posted On

2013-11-05