Incidental Mutation 'R9732:Mst1'
ID 731478
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9732 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 107957635-107962202 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107959425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 237 (D237V)
Ref Sequence ENSEMBL: ENSMUSP00000035211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035211] [ENSMUST00000047746] [ENSMUST00000159372] [ENSMUST00000160249] [ENSMUST00000160649] [ENSMUST00000161828] [ENSMUST00000162355] [ENSMUST00000162516] [ENSMUST00000162886] [ENSMUST00000174504] [ENSMUST00000178267] [ENSMUST00000193254]
AlphaFold P26928
Predicted Effect possibly damaging
Transcript: ENSMUST00000035211
AA Change: D237V

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000035211
Gene: ENSMUSG00000032591
AA Change: D237V

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 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: 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: ENSMUST00000161253
Predicted Effect probably benign
Transcript: ENSMUST00000161828
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: ENSMUST00000162516
Predicted Effect probably damaging
Transcript: ENSMUST00000162886
AA Change: D237V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125175
Gene: ENSMUSG00000032591
AA Change: D237V

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 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
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 99.0%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn A T 4: 156,258,446 (GRCm39) S1007T probably benign Het
Akap10 A T 11: 61,787,545 (GRCm39) C466S probably damaging Het
Apol9b C T 15: 77,619,566 (GRCm39) P121S possibly damaging Het
Atr T A 9: 95,743,438 (GRCm39) Y26N probably damaging Het
Cadm2 G A 16: 66,528,297 (GRCm39) T346I probably benign Het
Capn7 T C 14: 31,090,031 (GRCm39) I628T probably damaging Het
Cfap43 A G 19: 47,775,446 (GRCm39) S609P probably damaging Het
Chst2 C T 9: 95,287,951 (GRCm39) G132S probably benign Het
Clip2 C T 5: 134,533,616 (GRCm39) R487Q probably benign Het
Coq10a A G 10: 128,199,516 (GRCm39) F253L probably benign Het
Cyp2t4 C T 7: 26,854,657 (GRCm39) P46S probably damaging Het
Ddx54 T C 5: 120,763,911 (GRCm39) probably null Het
Dip2a T A 10: 76,110,077 (GRCm39) I1180L probably benign Het
Dpp8 G T 9: 64,970,862 (GRCm39) probably null Het
Efr3a T A 15: 65,720,139 (GRCm39) N378K probably benign Het
Etl4 C T 2: 20,748,373 (GRCm39) T237I probably damaging Het
Exo1 T A 1: 175,727,065 (GRCm39) S459T probably benign Het
Fam81b G A 13: 76,399,985 (GRCm39) T91I probably benign Het
Fry A G 5: 150,328,758 (GRCm39) E1297G probably benign Het
Gm11110 G A 17: 57,410,382 (GRCm39) L39F unknown Het
Gm3233 G T 10: 77,595,147 (GRCm39) Q124K unknown Het
Gm7145 C G 1: 117,913,839 (GRCm39) H240Q probably benign Het
Gnrh1 G T 14: 67,985,316 (GRCm39) R67L possibly damaging Het
Grip2 T A 6: 91,761,686 (GRCm39) E236V probably damaging Het
H3c10 A T 13: 21,902,186 (GRCm39) I120F probably benign Het
Hectd4 G T 5: 121,392,254 (GRCm39) E173* probably null Het
Hgf T A 5: 16,820,748 (GRCm39) L632I probably damaging Het
Igsf11 T C 16: 38,843,652 (GRCm39) V255A probably benign Het
Jmjd4 G T 11: 59,341,339 (GRCm39) probably null Het
Khdrbs3 C A 15: 68,885,212 (GRCm39) N71K probably damaging Het
Kif20b A G 19: 34,930,353 (GRCm39) D1286G probably benign Het
Lpin3 T A 2: 160,734,196 (GRCm39) L27Q probably damaging Het
Macroh2a1 G C 13: 56,243,976 (GRCm39) F183L probably benign Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mipep T A 14: 61,033,637 (GRCm39) F184I probably damaging Het
Mycbp2 T C 14: 103,448,749 (GRCm39) D1803G probably damaging Het
Ncoa6 T G 2: 155,244,636 (GRCm39) K1978T probably damaging Het
Nkain4 G A 2: 180,585,901 (GRCm39) T54I probably damaging Het
Olig3 G A 10: 19,233,151 (GRCm39) A259T probably benign Het
Or5w14 T C 2: 87,541,489 (GRCm39) T254A possibly damaging Het
Pacs1 A G 19: 5,184,997 (GRCm39) W943R probably damaging Het
Pkp4 T A 2: 59,138,797 (GRCm39) L349Q possibly damaging Het
Polh A T 17: 46,498,997 (GRCm39) H239Q probably benign Het
Ptprq G C 10: 107,412,767 (GRCm39) C1777W probably damaging Het
Rhod A T 19: 4,476,740 (GRCm39) V127E probably damaging Het
Rnf6 A G 5: 146,152,931 (GRCm39) S84P probably benign Het
Rundc3b T C 5: 8,562,406 (GRCm39) T321A probably damaging Het
Rxfp2 G A 5: 149,993,767 (GRCm39) A620T probably damaging Het
Sacm1l A G 9: 123,381,863 (GRCm39) E155G probably benign Het
Saxo5 C T 8: 3,526,167 (GRCm39) H107Y possibly damaging Het
Sdad1 A T 5: 92,438,942 (GRCm39) D471E probably benign Het
Sema6a T A 18: 47,381,925 (GRCm39) N874I probably damaging Het
Serinc4 C A 2: 121,283,631 (GRCm39) W283L possibly damaging Het
Simc1 GCAGTCACTAAGAAGTGTAATGCAGTCATCAGGAGGTGTGACACAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA GCAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA 13: 54,673,177 (GRCm39) probably benign Het
Slc24a3 A T 2: 145,458,591 (GRCm39) S524C probably damaging Het
Slc4a10 T G 2: 62,135,086 (GRCm39) S1042R probably damaging Het
Smg7 A T 1: 152,736,212 (GRCm39) V190D probably damaging Het
Sub1 T A 15: 11,986,650 (GRCm39) I66F possibly damaging Het
Svop G A 5: 114,201,142 (GRCm39) P109S probably damaging Het
Synj1 G A 16: 90,761,414 (GRCm39) P684L probably damaging Het
Synm A G 7: 67,385,652 (GRCm39) V670A probably damaging Het
Tep1 T C 14: 51,088,162 (GRCm39) I792V probably benign Het
Tex22 A G 12: 113,052,196 (GRCm39) T85A possibly damaging Het
Tmem151a C T 19: 5,131,937 (GRCm39) S423N probably damaging Het
Tnks1bp1 T A 2: 84,889,727 (GRCm39) W685R probably damaging Het
Top3a A G 11: 60,640,391 (GRCm39) F436L probably benign Het
Trim55 A T 3: 19,716,039 (GRCm39) I200F probably damaging Het
Trpv6 T A 6: 41,603,862 (GRCm39) R186* probably null Het
Ttc6 G A 12: 57,775,335 (GRCm39) C1677Y probably benign Het
Ttn C T 2: 76,769,206 (GRCm39) V2831I unknown Het
Tyrp1 T A 4: 80,758,930 (GRCm39) S268T possibly damaging Het
Unc5d C T 8: 29,381,319 (GRCm39) probably null Het
Usb1 G T 8: 96,065,375 (GRCm39) V129L probably damaging Het
Usp22 G A 11: 61,051,437 (GRCm39) T302M probably damaging Het
Vmn1r210 C A 13: 23,011,379 (GRCm39) L302F possibly damaging Het
Zfp689 C A 7: 127,044,283 (GRCm39) E116* probably null 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
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
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
X0028:Mst1 UTSW 9 107,959,416 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGGCGAGGTAGACGTTACAG -3'
(R):5'- TGGTACTCAGCAGGCTTTG -3'

Sequencing Primer
(F):5'- CGTTACAGAGTCAGGGCG -3'
(R):5'- ACGCCTAACTTCCCTAGTACC -3'
Posted On 2022-11-14