Incidental Mutation 'R7139:Mst1'
ID 553277
Institutional Source Beutler Lab
Gene Symbol Mst1
Ensembl Gene ENSMUSG00000032591
Gene Name macrophage stimulating 1 (hepatocyte growth factor-like)
Synonyms D3F15S2h, D9H3F15S2, DNF15S2h, Hgfl
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7139 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 107957635-107962202 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 107960027 bp (GRCm39)
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] [ENSMUST00000162886] [ENSMUST00000193254] [ENSMUST00000162355] [ENSMUST00000160649] [ENSMUST00000162516] [ENSMUST00000161828] [ENSMUST00000174504] [ENSMUST00000178267]
AlphaFold P26928
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

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 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

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: ENSMUST00000161673
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

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: 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: 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: ENSMUST00000162516
Predicted Effect probably benign
Transcript: ENSMUST00000161828
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 noncoding transcript
Transcript: ENSMUST00000194915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194083
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik A G 4: 148,026,295 (GRCm39) R272G possibly damaging Het
4930512M02Rik T A 11: 11,540,078 (GRCm39) N179Y unknown Het
4930562C15Rik A T 16: 4,668,048 (GRCm39) M480L probably benign Het
Abcd4 A G 12: 84,653,072 (GRCm39) C377R probably benign Het
Adam23 C A 1: 63,584,736 (GRCm39) D381E probably damaging Het
Angpt1 T A 15: 42,539,747 (GRCm39) Q37H probably damaging Het
Apeh A T 9: 107,969,345 (GRCm39) F260I probably damaging Het
Cadps2 T C 6: 23,410,888 (GRCm39) Y681C probably damaging Het
Ccdc162 T C 10: 41,542,717 (GRCm39) M386V possibly damaging Het
Celsr2 T C 3: 108,322,675 (GRCm39) S46G unknown Het
Cfc1 T C 1: 34,575,560 (GRCm39) L78P probably benign Het
Chd7 T C 4: 8,865,865 (GRCm39) V2724A probably benign Het
Clca3a1 A T 3: 144,461,063 (GRCm39) V196E possibly damaging Het
Cma1 T C 14: 56,181,273 (GRCm39) H44R probably damaging Het
Cnot2 T C 10: 116,330,924 (GRCm39) N394S probably benign Het
Cplx3 A T 9: 57,522,879 (GRCm39) H160Q probably benign Het
Cstf3 A T 2: 104,483,409 (GRCm39) I372F possibly damaging Het
Cyb5rl A C 4: 106,928,208 (GRCm39) I115L probably benign Het
D5Ertd579e A G 5: 36,771,320 (GRCm39) L1025P probably damaging Het
Dmtn T C 14: 70,854,867 (GRCm39) N36S probably benign Het
Dnah6 A G 6: 73,112,663 (GRCm39) V1647A probably damaging Het
Dock6 T C 9: 21,712,572 (GRCm39) Y2063C probably damaging Het
Dst T A 1: 34,338,888 (GRCm39) D5149E probably damaging Het
Fancl A G 11: 26,353,358 (GRCm39) M85V probably benign Het
Fgd2 T A 17: 29,592,229 (GRCm39) F387Y probably damaging Het
Fshr A T 17: 89,293,589 (GRCm39) I363N possibly damaging Het
Glce G T 9: 61,977,716 (GRCm39) S56* probably null Het
Gm26727 A T 2: 67,263,381 (GRCm39) S49T unknown Het
Gm36210 T A 7: 4,902,277 (GRCm39) D131V probably damaging Het
Gm5089 T C 14: 122,673,403 (GRCm39) D106G unknown Het
Gm5622 G T 14: 51,893,339 (GRCm39) E89* probably null Het
H2-Eb2 C T 17: 34,553,395 (GRCm39) R194W probably benign Het
Hivep1 A T 13: 42,313,430 (GRCm39) E1890V probably benign Het
Ighv1-53 A T 12: 115,122,441 (GRCm39) C5* probably null Het
Ighv2-5 T A 12: 113,649,219 (GRCm39) Y78F probably benign Het
Il9 C T 13: 56,628,426 (GRCm39) V88I probably benign Het
Kidins220 A G 12: 25,044,820 (GRCm39) T163A probably damaging Het
Lama4 G T 10: 38,951,491 (GRCm39) D1079Y probably damaging Het
Lrrc34 T C 3: 30,679,036 (GRCm39) I354V probably benign Het
Macroh2a2 T A 10: 61,593,674 (GRCm39) M1L unknown Het
Mpeg1 A T 19: 12,439,078 (GRCm39) T179S probably benign Het
Mrgpra2a A T 7: 47,076,337 (GRCm39) L307H probably damaging Het
Muc21 TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT TCCTGAGGCAGTGCTGGAT 17: 35,933,525 (GRCm39) probably benign Het
Nav3 C A 10: 109,689,338 (GRCm39) S313I probably benign Het
Nmt2 T G 2: 3,285,352 (GRCm39) S7A probably benign Het
Nsmce1 T C 7: 125,068,254 (GRCm39) S197G probably benign Het
Ociad2 A G 5: 73,493,218 (GRCm39) V4A probably benign Het
Or56a41 G T 7: 104,742,005 (GRCm39) T7K probably benign Het
Osmr T C 15: 6,850,569 (GRCm39) D679G possibly damaging Het
Pappa T A 4: 65,107,687 (GRCm39) F699L probably benign Het
Parp8 T A 13: 117,161,802 (GRCm39) M40L probably benign Het
Pcyox1 A T 6: 86,371,519 (GRCm39) N122K possibly damaging Het
Pkd1l1 T C 11: 8,840,737 (GRCm39) S1224G Het
Pkd1l3 T A 8: 110,362,972 (GRCm39) S1088T probably damaging Het
Prrt1 T C 17: 34,850,051 (GRCm39) V155A probably benign Het
Rbm6 A C 9: 107,730,410 (GRCm39) D79E probably damaging Het
Sec31b A T 19: 44,507,375 (GRCm39) S819T probably benign Het
Slc22a27 A T 19: 7,903,912 (GRCm39) I75N probably damaging Het
Slc25a54 G A 3: 109,005,905 (GRCm39) G138R probably damaging Het
Slc6a12 T C 6: 121,342,278 (GRCm39) S612P probably benign Het
Slc7a2 A T 8: 41,368,050 (GRCm39) I605F probably benign Het
Slit2 A G 5: 48,402,025 (GRCm39) T805A probably benign Het
Strbp A T 2: 37,514,514 (GRCm39) H308Q probably benign Het
Stxbp4 G A 11: 90,497,835 (GRCm39) Q155* probably null Het
Sybu A T 15: 44,541,110 (GRCm39) N317K possibly damaging Het
Taok1 G A 11: 77,462,459 (GRCm39) S210F probably damaging Het
Tapbp A G 17: 34,139,022 (GRCm39) D72G possibly damaging Het
Thbd G T 2: 148,248,461 (GRCm39) T469K probably benign Het
Tia1 T C 6: 86,404,670 (GRCm39) Y302H possibly damaging Het
Tlr4 T C 4: 66,758,520 (GRCm39) F438L probably benign Het
Tmem235 C T 11: 117,751,723 (GRCm39) S49L probably damaging Het
Trip4 A G 9: 65,792,503 (GRCm39) probably benign Het
Trrap C A 5: 144,739,988 (GRCm39) L1137I possibly damaging Het
Vmo1 T C 11: 70,404,674 (GRCm39) E109G probably benign Het
Wdfy4 T C 14: 32,873,535 (GRCm39) Y258C Het
Wdr91 T G 6: 34,885,198 (GRCm39) N121T possibly damaging Het
Zfp39 T C 11: 58,781,385 (GRCm39) H459R probably damaging Het
Zfp936 T A 7: 42,839,715 (GRCm39) I394K possibly damaging Het
Zpr1 G A 9: 46,192,357 (GRCm39) D423N probably damaging 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
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'- GCTTGCAAGTGAGGTGACAG -3'
(R):5'- ATACTGTTCACCTGAGCCGTG -3'

Sequencing Primer
(F):5'- GTGACAGGCCGGAGCAG -3'
(R):5'- TGAGCCGTGGTAGCATCCTG -3'
Posted On 2019-05-15