Mutagenetix > Incidental Mutation

Incidental Mutation 'R5677:Mst1'

442813

Institutional Source

Beutler Lab

Gene Symbol

Mst1

Ensembl Gene

ENSMUSG00000032591

Gene Name

macrophage stimulating 1 (hepatocyte growth factor-like)

Synonyms

D3F15S2h, D9H3F15S2, DNF15S2h, Hgfl

MMRRC Submission

043316-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5677 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107957635-107962202 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107958485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 65 (D65G)

Ref Sequence

ENSEMBL: ENSMUSP00000035211 (fasta)

Gene Model

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

AlphaFold

P26928

Predicted Effect

probably damaging
Transcript: ENSMUST00000035211
AA Change: D65G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035211
Gene: ENSMUSG00000032591
AA Change: D65G

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 damaging
Transcript: ENSMUST00000162886
AA Change: D65G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125175
Gene: ENSMUSG00000032591
AA Change: D65G

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: ENSMUST00000192916

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161673

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191754

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: ENSMUST00000162516

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: 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: 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

probably benign
Transcript: ENSMUST00000161253

Predicted Effect

probably benign
Transcript: ENSMUST00000161828

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194915

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	C	T	10: 28,862,225 (GRCm39)	V22I	probably benign	Het
Abca8a	A	T	11: 109,929,225 (GRCm39)	V1296D	possibly damaging	Het
Abca8b	C	T	11: 109,831,687 (GRCm39)	S1328N	probably damaging	Het
Adcy1	G	A	11: 7,111,914 (GRCm39)	M926I	probably damaging	Het
Aff4	G	T	11: 53,291,102 (GRCm39)	M687I	possibly damaging	Het
Agbl2	T	A	2: 90,638,322 (GRCm39)	Y636N	possibly damaging	Het
Agtr1a	A	T	13: 30,565,567 (GRCm39)	I211F	probably damaging	Het
Alkbh8	T	G	9: 3,385,147 (GRCm39)	S480A	possibly damaging	Het
Ankrd13b	A	T	11: 77,368,370 (GRCm39)	V84E	probably damaging	Het
Ap3b1	C	T	13: 94,664,704 (GRCm39)	T881I	unknown	Het
Apbb1	A	C	7: 105,208,453 (GRCm39)	D617E	probably damaging	Het
Apobec4	A	G	1: 152,633,033 (GRCm39)	R354G	probably benign	Het
Brdt	T	G	5: 107,496,483 (GRCm39)	C198W	possibly damaging	Het
Cacna1b	G	T	2: 24,569,370 (GRCm39)	H851Q	possibly damaging	Het
Car2	G	T	3: 14,963,115 (GRCm39)	V217F	possibly damaging	Het
Ccdc24	A	C	4: 117,727,077 (GRCm39)		probably benign	Het
Chodl	C	A	16: 78,738,203 (GRCm39)	A57E	probably damaging	Het
Clgn	G	T	8: 84,136,167 (GRCm39)	C185F	probably damaging	Het
Cltc	G	T	11: 86,596,068 (GRCm39)	N1223K	probably damaging	Het
Cnot10	T	C	9: 114,458,161 (GRCm39)	N115S	probably damaging	Het
Col12a1	T	C	9: 79,606,603 (GRCm39)	R607G	probably damaging	Het
Cpd	A	G	11: 76,690,651 (GRCm39)	V835A	probably benign	Het
Cplane2	C	T	4: 140,947,177 (GRCm39)	P186L	probably benign	Het
Csmd3	G	C	15: 48,485,447 (GRCm39)	L153V	probably damaging	Het
Ctr9	A	G	7: 110,643,209 (GRCm39)	H527R	probably benign	Het
Cwc22	G	A	2: 77,759,787 (GRCm39)	R87W	probably damaging	Het
D930020B18Rik	T	A	10: 121,505,106 (GRCm39)	N107K	probably benign	Het
Dgkg	C	A	16: 22,388,921 (GRCm39)	V418L	probably benign	Het
Dhx40	A	G	11: 86,691,789 (GRCm39)		probably null	Het
Diaph1	A	T	18: 37,989,004 (GRCm39)	M910K	probably damaging	Het
Diras2	T	A	13: 52,661,711 (GRCm39)	M199L	possibly damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dock5	T	A	14: 68,015,052 (GRCm39)	Q1302H	probably benign	Het
Dync1i2	T	C	2: 71,058,967 (GRCm39)	S90P	probably benign	Het
E2f8	A	T	7: 48,516,943 (GRCm39)	V812E	probably damaging	Het
Egfem1	C	A	3: 29,744,323 (GRCm39)	Q521K	probably damaging	Het
Fbxl18	A	T	5: 142,864,475 (GRCm39)	C699*	probably null	Het
Fgf3	C	T	7: 144,392,520 (GRCm39)	R26*	probably null	Het
Fpr-rs7	T	G	17: 20,334,365 (GRCm39)	I42L	probably benign	Het
Gm3159	T	A	14: 4,398,582 (GRCm38)	M91K	probably damaging	Het
Gprin3	A	G	6: 59,330,877 (GRCm39)	S477P	possibly damaging	Het
Grm8	A	T	6: 27,761,203 (GRCm39)		probably null	Het
Hepacam2	A	T	6: 3,466,142 (GRCm39)	D420E	probably damaging	Het
Hmcn1	A	T	1: 150,485,529 (GRCm39)	W4358R	probably benign	Het
Ifna6	G	A	4: 88,745,956 (GRCm39)	A102T	probably benign	Het
Ighv2-2	T	C	12: 113,552,142 (GRCm39)	Q32R	probably benign	Het
Igkv1-131	T	A	6: 67,743,242 (GRCm39)	Q47L	possibly damaging	Het
Il16	T	C	7: 83,323,761 (GRCm39)	E263G	probably damaging	Het
Kansl1	A	T	11: 104,225,974 (GRCm39)	C981S	probably benign	Het
Lrp1	A	T	10: 127,410,298 (GRCm39)	F1483I	probably damaging	Het
Ltf	T	C	9: 110,849,980 (GRCm39)	M1T	probably null	Het
Ly75	C	T	2: 60,129,426 (GRCm39)	R1653H	probably benign	Het
Macrod2	T	C	2: 142,018,587 (GRCm39)	F240S	probably damaging	Het
Man1c1	T	C	4: 134,296,371 (GRCm39)	E433G	probably damaging	Het
Mansc4	A	T	6: 146,983,047 (GRCm39)	M130K	probably benign	Het
Mccc1	C	T	3: 36,044,197 (GRCm39)		probably null	Het
Mink1	G	T	11: 70,495,991 (GRCm39)	R75L	possibly damaging	Het
Myo9b	C	T	8: 71,796,330 (GRCm39)	A857V	probably damaging	Het
Ndufa4	A	G	6: 11,900,574 (GRCm39)	V70A	probably benign	Het
Npat	T	A	9: 53,466,400 (GRCm39)	S230T	probably benign	Het
Nr1d1	A	G	11: 98,662,134 (GRCm39)	Y167H	probably damaging	Het
Oca2	A	G	7: 56,064,210 (GRCm39)	D735G	probably damaging	Het
Odr4	G	A	1: 150,250,588 (GRCm39)	L319F	probably damaging	Het
Or2a7	T	C	6: 43,151,265 (GRCm39)	V115A	probably benign	Het
Or2b2	C	T	13: 21,887,393 (GRCm39)	T74I	probably benign	Het
Or2y13	A	G	11: 49,414,771 (GRCm39)	T74A	probably damaging	Het
Or7g20	T	A	9: 18,946,854 (GRCm39)	I145N	possibly damaging	Het
Otop1	A	G	5: 38,457,507 (GRCm39)	Y422C	probably damaging	Het
Pde4dip	G	A	3: 97,748,964 (GRCm39)	R126*	probably null	Het
Pdp2	C	T	8: 105,321,320 (GRCm39)	P390S	probably damaging	Het
Pds5b	A	T	5: 150,639,926 (GRCm39)	T14S	possibly damaging	Het
Pfkp	T	C	13: 6,638,631 (GRCm39)	E580G	probably damaging	Het
Piezo2	A	T	18: 63,250,767 (GRCm39)	L212Q	possibly damaging	Het
Piezo2	G	C	18: 63,250,768 (GRCm39)	L444V	probably benign	Het
Pla2g4d	T	A	2: 120,109,429 (GRCm39)	T207S	possibly damaging	Het
Plk2	C	A	13: 110,535,591 (GRCm39)	T471K	possibly damaging	Het
Potefam1	T	C	2: 111,041,910 (GRCm39)	T342A	probably benign	Het
Potegl	T	A	2: 23,102,730 (GRCm39)	L156Q	probably damaging	Het
Ppp1r3g	G	A	13: 36,153,245 (GRCm39)	E222K	probably damaging	Het
Pramel28	A	T	4: 143,691,708 (GRCm39)	D338E	possibly damaging	Het
Prkcg	A	G	7: 3,371,974 (GRCm39)	D480G	probably damaging	Het
Pxdc1	T	A	13: 34,836,178 (GRCm39)	T81S	probably benign	Het
Rnf150	A	T	8: 83,730,228 (GRCm39)	K253*	probably null	Het
Sae1	T	C	7: 16,104,387 (GRCm39)		probably null	Het
Scin	C	T	12: 40,113,258 (GRCm39)	D538N	probably damaging	Het
Serpinb3c	C	A	1: 107,199,533 (GRCm39)	K329N	probably damaging	Het
Sgo2b	T	A	8: 64,380,008 (GRCm39)	K941N	possibly damaging	Het
Six1	C	T	12: 73,093,058 (GRCm39)	S48N	possibly damaging	Het
Slc39a8	G	A	3: 135,590,449 (GRCm39)	G381R	probably damaging	Het
Slc9b1	A	G	3: 135,063,320 (GRCm39)	K35E	unknown	Het
Srek1	C	T	13: 103,895,752 (GRCm39)	A274T	probably damaging	Het
Steap2	A	T	5: 5,727,497 (GRCm39)	Y279*	probably null	Het
Svil	T	A	18: 5,046,823 (GRCm39)	L110*	probably null	Het
Syncrip	T	C	9: 88,338,762 (GRCm39)		probably benign	Het
Tcf20	A	G	15: 82,737,443 (GRCm39)	I1336T	probably benign	Het
Tecpr1	T	A	5: 144,155,451 (GRCm39)	K36*	probably null	Het
Tenm2	A	G	11: 36,032,510 (GRCm39)	V670A	probably damaging	Het
Thbd	G	A	2: 148,249,286 (GRCm39)	T194I	probably damaging	Het
Tm9sf2	A	T	14: 122,389,374 (GRCm39)		probably null	Het
Tmtc4	A	T	14: 123,187,911 (GRCm39)	I225N	probably damaging	Het
Tpp1	C	T	7: 105,396,743 (GRCm39)	V425M	probably damaging	Het
Trbc2	T	A	6: 41,524,746 (GRCm39)	Y144*	probably null	Het
Trps1	T	C	15: 50,709,504 (GRCm39)	D282G	probably damaging	Het
Tsc22d4	T	A	5: 137,745,404 (GRCm39)	S9R	probably damaging	Het
Upp1	T	A	11: 9,086,025 (GRCm39)	D287E	probably benign	Het
Uso1	A	C	5: 92,349,158 (GRCm39)	Q916H	probably damaging	Het
Uty	T	A	Y: 1,134,902 (GRCm39)	Y884F	probably damaging	Het
Vmn1r222	T	C	13: 23,416,950 (GRCm39)	R88G	probably damaging	Het
Vmn1r79	T	C	7: 11,910,928 (GRCm39)	V270A	possibly damaging	Het
Zbtb22	T	C	17: 34,136,709 (GRCm39)	S285P	probably benign	Het
Zfp385a	A	G	15: 103,226,492 (GRCm39)	V82A	probably damaging	Het
Zfp59	T	C	7: 27,553,594 (GRCm39)	F349L	probably benign	Het
Zfp780b	T	G	7: 27,662,224 (GRCm39)	H777P	probably benign	Het
Zfp82	T	C	7: 29,756,549 (GRCm39)	T178A	probably benign	Het
Zfp850	T	C	7: 27,688,513 (GRCm39)	Y565C	probably damaging	Het
Zfp957	A	G	14: 79,450,207 (GRCm39)	Y531H	probably damaging	Het

Other mutations in Mst1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01364:Mst1	APN	9	107,958,800 (GRCm39)	missense	probably benign	0.03
IGL01380:Mst1	APN	9	107,961,787 (GRCm39)	missense	probably damaging	1.00
IGL01420:Mst1	APN	9	107,960,027 (GRCm39)	missense	probably damaging	0.99
IGL02931:Mst1	APN	9	107,961,841 (GRCm39)	splice site	probably null
IGL03059:Mst1	APN	9	107,962,012 (GRCm39)	missense	probably damaging	1.00
IGL03275:Mst1	APN	9	107,961,587 (GRCm39)	missense	possibly damaging	0.70
R0319:Mst1	UTSW	9	107,959,712 (GRCm39)	missense	probably benign	0.05
R0361:Mst1	UTSW	9	107,962,096 (GRCm39)	missense	probably damaging	0.98
R0412:Mst1	UTSW	9	107,960,793 (GRCm39)	missense	probably benign	0.06
R0569:Mst1	UTSW	9	107,959,500 (GRCm39)	missense	probably damaging	0.98
R1432:Mst1	UTSW	9	107,961,403 (GRCm39)	missense	probably benign	0.01
R1483:Mst1	UTSW	9	107,958,849 (GRCm39)	missense	probably benign	0.03
R1859:Mst1	UTSW	9	107,961,545 (GRCm39)	missense	probably benign	0.23
R2187:Mst1	UTSW	9	107,961,539 (GRCm39)	missense	possibly damaging	0.63
R2393:Mst1	UTSW	9	107,960,151 (GRCm39)	critical splice donor site	probably null
R3522:Mst1	UTSW	9	107,958,702 (GRCm39)	unclassified	probably benign
R3916:Mst1	UTSW	9	107,961,494 (GRCm39)	missense	probably benign	0.00
R3917:Mst1	UTSW	9	107,961,494 (GRCm39)	missense	probably benign	0.00
R3945:Mst1	UTSW	9	107,962,052 (GRCm39)	missense	probably damaging	1.00
R4006:Mst1	UTSW	9	107,960,147 (GRCm39)	missense	possibly damaging	0.52
R4007:Mst1	UTSW	9	107,960,147 (GRCm39)	missense	possibly damaging	0.52
R4737:Mst1	UTSW	9	107,957,720 (GRCm39)	missense	probably benign	0.00
R4756:Mst1	UTSW	9	107,960,826 (GRCm39)	missense	probably benign	0.28
R5047:Mst1	UTSW	9	107,961,508 (GRCm39)	missense	probably benign	0.17
R5113:Mst1	UTSW	9	107,959,446 (GRCm39)	missense	probably damaging	1.00
R5278:Mst1	UTSW	9	107,959,414 (GRCm39)	missense	probably damaging	0.99
R5279:Mst1	UTSW	9	107,959,414 (GRCm39)	missense	probably damaging	0.99
R5402:Mst1	UTSW	9	107,961,408 (GRCm39)	critical splice donor site	probably null
R5712:Mst1	UTSW	9	107,960,107 (GRCm39)	missense	probably damaging	1.00
R6717:Mst1	UTSW	9	107,957,774 (GRCm39)	splice site	probably null
R7059:Mst1	UTSW	9	107,961,263 (GRCm39)	missense	probably benign	0.44
R7131:Mst1	UTSW	9	107,962,130 (GRCm39)	missense	probably null	0.07
R7139:Mst1	UTSW	9	107,960,027 (GRCm39)	missense	probably damaging	0.99
R7219:Mst1	UTSW	9	107,958,485 (GRCm39)	missense	probably damaging	0.99
R7501:Mst1	UTSW	9	107,959,748 (GRCm39)	missense	probably damaging	1.00
R7878:Mst1	UTSW	9	107,961,812 (GRCm39)	missense	probably benign
R8304:Mst1	UTSW	9	107,958,803 (GRCm39)	missense	probably benign
R8397:Mst1	UTSW	9	107,958,698 (GRCm39)	critical splice donor site	probably benign
R8715:Mst1	UTSW	9	107,959,242 (GRCm39)	missense	possibly damaging	0.95
R9574:Mst1	UTSW	9	107,962,053 (GRCm39)	nonsense	probably null
R9732:Mst1	UTSW	9	107,959,425 (GRCm39)	missense	possibly damaging	0.93
X0028:Mst1	UTSW	9	107,959,416 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTAATGCGCTCATGCTCAC -3'
(R):5'- TCCGCACATAATCTGGAAGC -3'

Sequencing Primer
(F):5'- TCATGCTCACCACGCAGG -3'
(R):5'- GGCAACCCAGATTCTCAT -3'

Posted On

2016-11-09