Incidental Mutation 'R3917:Mst1'
ID 307358
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 040914-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3917 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 107957635-107962202 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107961494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 575 (I575V)
Ref Sequence ENSEMBL: ENSMUSP00000125175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035211] [ENSMUST00000047746] [ENSMUST00000159372] [ENSMUST00000160249] [ENSMUST00000162886] [ENSMUST00000162355] [ENSMUST00000193254] [ENSMUST00000160649] [ENSMUST00000174504] [ENSMUST00000178267]
AlphaFold P26928
Predicted Effect probably benign
Transcript: ENSMUST00000035211
AA Change: I584V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000035211
Gene: ENSMUSG00000032591
AA Change: I584V

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000162886
AA Change: I575V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000125175
Gene: ENSMUSG00000032591
AA Change: I575V

DomainStartEndE-ValueType
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: ENSMUST00000191754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192916
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184227
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161673
Predicted Effect probably benign
Transcript: ENSMUST00000162355
SMART Domains Protein: ENSMUSP00000125745
Gene: ENSMUSG00000041528

DomainStartEndE-ValueType
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: ENSMUST00000193254
SMART Domains Protein: ENSMUSP00000141856
Gene: ENSMUSG00000032590

DomainStartEndE-ValueType
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: ENSMUST00000161253
Predicted Effect probably benign
Transcript: ENSMUST00000160649
SMART Domains Protein: ENSMUSP00000125495
Gene: ENSMUSG00000041528

DomainStartEndE-ValueType
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: ENSMUST00000174504
Predicted Effect probably benign
Transcript: ENSMUST00000178267
SMART Domains Protein: ENSMUSP00000136953
Gene: ENSMUSG00000041528

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 97% (74/76)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad12 A G 5: 121,737,277 (GRCm39) V498A probably damaging Het
Adam19 A G 11: 45,951,762 (GRCm39) E37G probably benign Het
Apol11b A G 15: 77,519,504 (GRCm39) I192T probably benign Het
Appl1 A T 14: 26,650,561 (GRCm39) F537Y probably damaging Het
Atad5 A C 11: 79,994,120 (GRCm39) K785N probably null Het
Atp1b2 A G 11: 69,493,901 (GRCm39) V93A probably damaging Het
Bcam T C 7: 19,499,375 (GRCm39) Y216C probably damaging Het
Brca2 A G 5: 150,464,292 (GRCm39) E1352G probably damaging Het
C030005K15Rik A C 10: 97,561,453 (GRCm39) S93A unknown Het
Cadps C T 14: 12,457,702 (GRCm38) A1060T probably benign Het
Ccdc88c A G 12: 100,907,366 (GRCm39) probably null Het
Ccdc89 A G 7: 90,076,033 (GRCm39) D81G probably damaging Het
Ccnt1 A G 15: 98,441,940 (GRCm39) S443P probably benign Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdc42bpa T C 1: 179,933,719 (GRCm39) probably null Het
Cdk11b T C 4: 155,711,258 (GRCm39) S47P probably damaging Het
Cfap43 T C 19: 47,886,189 (GRCm39) D142G probably benign Het
Cntnap4 C G 8: 113,602,165 (GRCm39) P1190A probably benign Het
Colgalt2 T A 1: 152,384,362 (GRCm39) Y567* probably null Het
Dner CGCTGCTGCTGCTGCTGCTGCTGCTGC CGCTGCTGCTGCTGCTGCTGCTGC 1: 84,563,270 (GRCm39) probably benign Het
Dock7 T C 4: 98,904,922 (GRCm39) Y651C probably damaging Het
Fzd3 A T 14: 65,473,379 (GRCm39) F130I probably damaging Het
Gabarapl2 T A 8: 112,679,028 (GRCm39) F115L probably benign Het
Gm1043 G A 5: 37,350,285 (GRCm39) probably benign Het
Gm12185 A G 11: 48,806,760 (GRCm39) F144L probably benign Het
Gm21961 A T 15: 64,886,733 (GRCm39) D7E unknown Het
Gtf3a A G 5: 146,892,244 (GRCm39) K332E probably benign Het
Haao A G 17: 84,146,228 (GRCm39) probably null Het
Habp2 T A 19: 56,299,611 (GRCm39) C170S probably damaging Het
Heatr3 T G 8: 88,876,999 (GRCm39) probably null Het
Herc1 T G 9: 66,341,748 (GRCm39) C1846G possibly damaging Het
Hivep3 T C 4: 119,956,624 (GRCm39) S1647P probably benign Het
Hnrnpul1 C T 7: 25,426,300 (GRCm39) R517Q probably damaging Het
Hspg2 A G 4: 137,286,625 (GRCm39) E3648G probably damaging Het
Jaml T C 9: 45,012,449 (GRCm39) probably benign Het
Jund C T 8: 71,151,673 (GRCm39) probably benign Het
Klra14-ps T C 6: 130,134,595 (GRCm39) noncoding transcript Het
Krt88 G A 15: 101,350,809 (GRCm39) probably null Het
Lrp5 G A 19: 3,662,330 (GRCm39) R173C probably damaging Het
Lyzl4 T A 9: 121,412,101 (GRCm39) D105V probably damaging Het
Myd88 T C 9: 119,170,464 (GRCm39) probably benign Het
Myo1d A T 11: 80,557,404 (GRCm39) V512E probably damaging Het
Ndufv1 A G 19: 4,060,002 (GRCm39) Y33H probably damaging Het
Nwd1 T A 8: 73,394,439 (GRCm39) C608* probably null Het
Or10al2 T A 17: 37,983,684 (GRCm39) F257I probably damaging Het
Or8b37 A T 9: 37,958,841 (GRCm39) I108F probably damaging Het
Patj A T 4: 98,480,245 (GRCm39) K1317* probably null Het
Pld5 A G 1: 175,791,504 (GRCm39) S501P probably benign Het
Pnpo A G 11: 96,830,583 (GRCm39) V146A probably damaging Het
Ppdpf A G 2: 180,829,521 (GRCm39) Y16C probably benign Het
Ppp1r27 A G 11: 120,441,785 (GRCm39) V32A possibly damaging Het
Rbm28 T C 6: 29,154,788 (GRCm39) D294G probably benign Het
Sdk1 T A 5: 142,036,999 (GRCm39) D817E probably damaging Het
Shank3 A G 15: 89,387,587 (GRCm39) D252G possibly damaging Het
Slc29a1 A T 17: 45,899,899 (GRCm39) probably null Het
Slc35a5 G C 16: 44,978,521 (GRCm39) probably benign Het
Slc6a5 T C 7: 49,561,617 (GRCm39) S50P probably damaging Het
Slfn8 A T 11: 82,907,819 (GRCm39) Y241* probably null Het
Slu7 G T 11: 43,331,511 (GRCm39) probably null Het
Smad2 T A 18: 76,421,008 (GRCm39) D82E probably benign Het
Spx A C 6: 142,359,757 (GRCm39) E33A probably damaging Het
Tdp1 A G 12: 99,860,976 (GRCm39) Y205C probably damaging Het
Tekt1 A G 11: 72,236,574 (GRCm39) I296T possibly damaging Het
Tgm1 G A 14: 55,950,214 (GRCm39) probably benign Het
Tnks A G 8: 35,320,515 (GRCm39) S719P probably damaging Het
Trip6 A G 5: 137,311,941 (GRCm39) C47R probably benign Het
Trpv3 A G 11: 73,174,560 (GRCm39) D309G possibly damaging Het
Tti2 A G 8: 31,643,547 (GRCm39) K221E possibly damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn1r57 A T 7: 5,223,630 (GRCm39) N52Y probably damaging Het
Vmn2r94 A G 17: 18,464,620 (GRCm39) F557L probably benign Het
Zbed5 T C 5: 129,931,118 (GRCm39) Y356H possibly damaging Het
Zfp1005 T A 2: 150,108,039 (GRCm39) probably benign Het
Zic4 C A 9: 91,266,394 (GRCm39) probably benign Het
Other mutations in Mst1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R5677:Mst1 UTSW 9 107,958,485 (GRCm39) missense probably damaging 0.98
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'- TGAACTAGCAGAGTCTCTTTCTCC -3'
(R):5'- CCTTGAGCCAAAACCAGTGC -3'

Sequencing Primer
(F):5'- CTCTCACAGGATACGAGGTATG -3'
(R):5'- CAGTGCTGGACCTCCCG -3'
Posted On 2015-04-17