Incidental Mutation 'R4756:Mst1'
ID 358026
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 041972-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4756 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 107957635-107962202 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107960826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 481 (V481A)
Ref Sequence ENSEMBL: ENSMUSP00000035211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035211] [ENSMUST00000047746] [ENSMUST00000159372] [ENSMUST00000160249] [ENSMUST00000162886] [ENSMUST00000162516] [ENSMUST00000162355] [ENSMUST00000193254] [ENSMUST00000174504] [ENSMUST00000178267] [ENSMUST00000160649]
AlphaFold P26928
Predicted Effect probably benign
Transcript: ENSMUST00000035211
AA Change: V481A

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000035211
Gene: ENSMUSG00000032591
AA Change: V481A

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: V472A

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125175
Gene: ENSMUSG00000032591
AA Change: V472A

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: ENSMUST00000192916
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194083
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161673
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184227
Predicted Effect probably benign
Transcript: ENSMUST00000162516
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: 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: 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: 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 noncoding transcript
Transcript: ENSMUST00000194915
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A T 9: 53,336,830 (GRCm39) M45L probably benign Het
Acss2 T C 2: 155,403,063 (GRCm39) F627L probably damaging Het
Akap8 A G 17: 32,535,184 (GRCm39) S277P probably damaging Het
Akap9 T A 5: 4,051,418 (GRCm39) M1395K probably damaging Het
Ank1 A G 8: 23,612,893 (GRCm39) D1468G probably benign Het
Apoe A G 7: 19,430,846 (GRCm39) V121A probably benign Het
Aqp9 A T 9: 71,070,331 (GRCm39) L12H probably damaging Het
Atp2b4 G A 1: 133,639,529 (GRCm39) A1115V probably benign Het
Atp2b4 G A 1: 133,667,134 (GRCm39) P139L probably benign Het
B430218F22Rik T C 13: 118,523,980 (GRCm39) probably benign Het
Bltp2 T A 11: 78,154,854 (GRCm39) L122H probably damaging Het
Brsk1 A G 7: 4,711,866 (GRCm39) E572G possibly damaging Het
C6 T C 15: 4,811,394 (GRCm39) I414T probably benign Het
C8b T A 4: 104,644,083 (GRCm39) M250K probably benign Het
Camk1g T A 1: 193,044,393 (GRCm39) E7V probably benign Het
Clcc1 A G 3: 108,580,236 (GRCm39) probably null Het
Col4a3 G T 1: 82,694,018 (GRCm39) probably null Het
Cox5b T A 1: 36,732,310 (GRCm39) W104R probably damaging Het
Cyp2c55 A C 19: 39,019,815 (GRCm39) H251P probably damaging Het
Cyp2c67 G A 19: 39,632,188 (GRCm39) T60I probably benign Het
Defb42 T A 14: 63,285,824 (GRCm39) V68E probably benign Het
Ercc4 T A 16: 12,941,287 (GRCm39) I225N probably damaging Het
Fam120b G T 17: 15,622,658 (GRCm39) C212F probably damaging Het
Fgf10 T C 13: 118,918,045 (GRCm39) V111A probably benign Het
Fn1 G T 1: 71,629,967 (GRCm39) T2186K probably damaging Het
Fras1 T C 5: 96,929,518 (GRCm39) V3974A probably benign Het
Galnt4 T C 10: 98,944,362 (GRCm39) V29A probably benign Het
Gpr26 T C 7: 131,569,230 (GRCm39) Y192H probably damaging Het
Heatr9 A T 11: 83,407,475 (GRCm39) L236Q probably damaging Het
Hivep3 C A 4: 119,955,020 (GRCm39) P1112H probably damaging Het
Hnf4g A G 3: 3,708,069 (GRCm39) Y106C possibly damaging Het
Hnrnpdl A T 5: 100,185,783 (GRCm39) Y69* probably null Het
Itgb1 G A 8: 129,443,703 (GRCm39) A320T probably damaging Het
Kcna2 T C 3: 107,012,733 (GRCm39) I438T probably benign Het
Kif24 A G 4: 41,397,545 (GRCm39) probably null Het
Klhl1 G A 14: 96,389,402 (GRCm39) T584I probably benign Het
Ltbp1 A G 17: 75,532,199 (GRCm39) D91G probably damaging Het
Mdga2 T C 12: 66,844,427 (GRCm39) I190M probably damaging Het
Meis2 G A 2: 115,830,686 (GRCm39) R276C probably damaging Het
Mob4 C T 1: 55,191,855 (GRCm39) R190W probably damaging Het
Mrgpra2a A G 7: 47,077,114 (GRCm39) I48T possibly damaging Het
Mttp A T 3: 137,821,832 (GRCm39) V245E possibly damaging Het
Nbn T A 4: 15,981,470 (GRCm39) S521T probably benign Het
Neb G T 2: 52,083,243 (GRCm39) T5654N probably damaging Het
Nlrp9a A T 7: 26,256,866 (GRCm39) K161N probably damaging Het
Nod2 T G 8: 89,390,902 (GRCm39) F388C possibly damaging Het
Or3a1 G T 11: 74,225,402 (GRCm39) F218L probably benign Het
Or4a75 G T 2: 89,447,814 (GRCm39) H241N possibly damaging Het
Or4f58 A G 2: 111,851,332 (GRCm39) F289S possibly damaging Het
Or52e2 A T 7: 102,804,332 (GRCm39) N207K probably benign Het
Or7a38 T A 10: 78,753,361 (GRCm39) I229N probably damaging Het
Or7g25 G A 9: 19,160,153 (GRCm39) L181F possibly damaging Het
P2ry1 A G 3: 60,911,898 (GRCm39) S346G probably benign Het
Polr1f T A 12: 33,487,679 (GRCm39) probably null Het
Prkcd A G 14: 30,321,623 (GRCm39) F524L probably benign Het
Qrfprl T C 6: 65,429,898 (GRCm39) I198T probably benign Het
Ramp3 A T 11: 6,624,843 (GRCm39) M46L probably benign Het
Rint1 T C 5: 24,014,791 (GRCm39) Y278H probably damaging Het
Skint11 C T 4: 114,051,874 (GRCm39) T74I probably benign Het
Slc10a7 T C 8: 79,433,579 (GRCm39) probably null Het
Slc45a2 T A 15: 11,028,016 (GRCm39) Y528* probably null Het
Slit1 A G 19: 41,637,452 (GRCm39) F329L probably damaging Het
Sltm A T 9: 70,498,892 (GRCm39) M989L possibly damaging Het
Smad9 A T 3: 54,701,874 (GRCm39) T372S possibly damaging Het
Snrpc T A 17: 28,061,306 (GRCm39) Y38* probably null Het
Spag17 A G 3: 100,010,701 (GRCm39) K2065R possibly damaging Het
Stxbp4 T A 11: 90,498,197 (GRCm39) K87N probably damaging Het
Tbc1d23 AT ATT 16: 57,019,258 (GRCm39) probably null Het
Tgfb1i1 A T 7: 127,848,571 (GRCm39) M96L probably damaging Het
Tnc T A 4: 63,885,580 (GRCm39) I1841F probably damaging Het
Ubap2 G T 4: 41,211,771 (GRCm39) H63Q probably damaging Het
Vps13a T C 19: 16,632,580 (GRCm39) N2592S probably benign Het
Xdh G A 17: 74,193,381 (GRCm39) P1305L probably benign Het
Xrn1 G A 9: 95,921,862 (GRCm39) R1425K probably benign Het
Zfp418 G A 7: 7,185,762 (GRCm39) R575Q possibly damaging Het
Zfp608 T A 18: 55,027,544 (GRCm39) Q1424H probably damaging Het
Zfp839 C A 12: 110,821,635 (GRCm39) L150I possibly 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
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'- CCCTTAACCTGAGTGAACTTGATC -3'
(R):5'- ATGAGAAGCCACACTGAGTCC -3'

Sequencing Primer
(F):5'- TCTTGCAGATGATGACCAGC -3'
(R):5'- GGGACACATGCTAGACTGTCATTTC -3'
Posted On 2015-11-11