Incidental Mutation 'R0037:Mast3'
ID15593
Institutional Source Beutler Lab
Gene Symbol Mast3
Ensembl Gene ENSMUSG00000031833
Gene Namemicrotubule associated serine/threonine kinase 3
Synonyms
MMRRC Submission 038331-MU
Accession Numbers

Ncbi RefSeq: NM_199308.2. MGI:2683541

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0037 (G1)
Quality Score
Status Validated
Chromosome8
Chromosomal Location70778117-70805054 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 70783699 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166004] [ENSMUST00000166004] [ENSMUST00000211948]
Predicted Effect probably null
Transcript: ENSMUST00000166004
SMART Domains Protein: ENSMUSP00000128703
Gene: ENSMUSG00000031833

DomainStartEndE-ValueType
low complexity region 43 59 N/A INTRINSIC
Pfam:DUF1908 64 337 4.4e-128 PFAM
S_TKc 373 646 2.77e-99 SMART
S_TK_X 647 710 2.39e-1 SMART
low complexity region 820 833 N/A INTRINSIC
low complexity region 910 942 N/A INTRINSIC
PDZ 958 1038 3.8e-15 SMART
low complexity region 1053 1074 N/A INTRINSIC
low complexity region 1089 1121 N/A INTRINSIC
low complexity region 1124 1150 N/A INTRINSIC
low complexity region 1180 1204 N/A INTRINSIC
low complexity region 1231 1248 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000166004
SMART Domains Protein: ENSMUSP00000128703
Gene: ENSMUSG00000031833

DomainStartEndE-ValueType
low complexity region 43 59 N/A INTRINSIC
Pfam:DUF1908 64 337 4.4e-128 PFAM
S_TKc 373 646 2.77e-99 SMART
S_TK_X 647 710 2.39e-1 SMART
low complexity region 820 833 N/A INTRINSIC
low complexity region 910 942 N/A INTRINSIC
PDZ 958 1038 3.8e-15 SMART
low complexity region 1053 1074 N/A INTRINSIC
low complexity region 1089 1121 N/A INTRINSIC
low complexity region 1124 1150 N/A INTRINSIC
low complexity region 1180 1204 N/A INTRINSIC
low complexity region 1231 1248 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000211948
Predicted Effect probably benign
Transcript: ENSMUST00000212140
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212172
Meta Mutation Damage Score 0.9593 question?
Coding Region Coverage
  • 1x: 81.5%
  • 3x: 73.9%
  • 10x: 52.8%
  • 20x: 32.9%
Validation Efficiency 94% (83/88)
Allele List at MGI

All alleles(2) : Targeted(1) Gene trapped(1)

Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars G A 8: 111,043,259 R330Q possibly damaging Het
Amph A T 13: 19,100,653 S250C possibly damaging Het
Ankrd61 T C 5: 143,894,977 N3S probably damaging Het
Camsap2 C T 1: 136,281,892 E621K probably damaging Het
Cpt2 A G 4: 107,907,974 S152P probably damaging Het
Csmd1 T A 8: 15,917,248 Q3205L probably damaging Het
Dag1 G T 9: 108,207,353 P863Q probably damaging Het
Dclk1 A G 3: 55,256,059 I191V probably benign Het
Ddhd1 A G 14: 45,610,510 L567P probably damaging Het
Enox1 T C 14: 77,699,310 probably benign Het
Exoc3 T C 13: 74,199,539 E104G probably damaging Het
Foxp1 T A 6: 99,162,969 Q17L probably damaging Het
Fscn1 A G 5: 142,970,694 probably benign Het
Fut8 T C 12: 77,365,037 V91A probably benign Het
Gm5475 T A 15: 100,424,202 Y77* probably null Het
Gm5800 T C 14: 51,716,148 probably benign Het
Hs2st1 T A 3: 144,437,644 K213* probably null Het
Il5ra T A 6: 106,742,686 Y62F probably damaging Het
Inpp5d A G 1: 87,708,129 E734G probably damaging Het
Insig2 A T 1: 121,306,920 C194S probably damaging Het
Lemd3 A C 10: 120,925,456 H898Q possibly damaging Het
Lrp4 A G 2: 91,471,203 T43A probably benign Het
Melk T C 4: 44,360,864 probably benign Het
Myo10 C T 15: 25,666,532 probably benign Het
Nlrc5 G A 8: 94,489,535 V967M probably benign Het
Nlrp9b T A 7: 20,023,722 F295I probably damaging Het
Phf3 A T 1: 30,804,918 D1653E probably benign Het
Ppfia4 A T 1: 134,324,089 L449Q probably damaging Het
Ppp1r16b T A 2: 158,757,209 I367N probably damaging Het
Ralgapb T C 2: 158,437,411 L139S probably damaging Het
Slc20a1 T C 2: 129,210,772 V658A probably damaging Het
Son C A 16: 91,664,728 A347E probably damaging Het
Tprgl C A 4: 154,160,137 V134L possibly damaging Het
Trim24 A T 6: 37,957,549 N733I probably damaging Het
Uggt1 A T 1: 36,185,932 D540E probably benign Het
Urb2 T A 8: 124,047,195 F1488L probably damaging Het
Utp20 T C 10: 88,798,404 D810G probably benign Het
Zfp473 T A 7: 44,733,900 K335N probably damaging Het
Other mutations in Mast3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Mast3 APN 8 70780683 splice site probably benign
IGL01411:Mast3 APN 8 70779583 missense possibly damaging 0.50
IGL01475:Mast3 APN 8 70779530 missense probably damaging 1.00
IGL01886:Mast3 APN 8 70782139 missense possibly damaging 0.94
IGL02104:Mast3 APN 8 70787906 missense possibly damaging 0.78
IGL02236:Mast3 APN 8 70789244 missense probably benign 0.36
IGL02437:Mast3 APN 8 70780558 missense possibly damaging 0.79
IGL02704:Mast3 APN 8 70786875 missense probably damaging 1.00
IGL03155:Mast3 APN 8 70789217 missense probably damaging 1.00
IGL03366:Mast3 APN 8 70781563 nonsense probably null
gravy UTSW 8 70786635 missense probably damaging 1.00
stuffing UTSW 8 70784797 frame shift probably null
turkey UTSW 8 70785482 missense probably damaging 1.00
BB010:Mast3 UTSW 8 70786635 missense probably damaging 1.00
BB020:Mast3 UTSW 8 70786635 missense probably damaging 1.00
R0280:Mast3 UTSW 8 70783795 missense probably damaging 1.00
R0280:Mast3 UTSW 8 70787920 missense possibly damaging 0.65
R0731:Mast3 UTSW 8 70781321 missense probably damaging 1.00
R1101:Mast3 UTSW 8 70786663 missense probably damaging 1.00
R1177:Mast3 UTSW 8 70780324 missense probably damaging 1.00
R1208:Mast3 UTSW 8 70788272 splice site probably null
R1208:Mast3 UTSW 8 70788272 splice site probably null
R1333:Mast3 UTSW 8 70781294 missense probably damaging 1.00
R1543:Mast3 UTSW 8 70792311 missense possibly damaging 0.93
R1544:Mast3 UTSW 8 70786172 missense probably damaging 1.00
R1738:Mast3 UTSW 8 70784556 missense probably benign 0.38
R1842:Mast3 UTSW 8 70780393 missense possibly damaging 0.91
R1936:Mast3 UTSW 8 70784800 missense probably damaging 1.00
R2015:Mast3 UTSW 8 70787363 missense probably benign 0.00
R2219:Mast3 UTSW 8 70780963 missense probably damaging 0.99
R2220:Mast3 UTSW 8 70780963 missense probably damaging 0.99
R3711:Mast3 UTSW 8 70779607 missense probably benign 0.13
R3919:Mast3 UTSW 8 70779422 missense probably benign 0.02
R4027:Mast3 UTSW 8 70787908 missense probably damaging 1.00
R4060:Mast3 UTSW 8 70781194 missense probably damaging 1.00
R4061:Mast3 UTSW 8 70781194 missense probably damaging 1.00
R4062:Mast3 UTSW 8 70781194 missense probably damaging 1.00
R4063:Mast3 UTSW 8 70781194 missense probably damaging 1.00
R4588:Mast3 UTSW 8 70780607 nonsense probably null
R4672:Mast3 UTSW 8 70784797 frame shift probably null
R4770:Mast3 UTSW 8 70786220 missense probably damaging 1.00
R4822:Mast3 UTSW 8 70780366 missense probably damaging 1.00
R4830:Mast3 UTSW 8 70788915 missense possibly damaging 0.87
R5196:Mast3 UTSW 8 70788245 missense probably damaging 1.00
R5333:Mast3 UTSW 8 70783501 missense probably benign 0.03
R5428:Mast3 UTSW 8 70784733 missense possibly damaging 0.95
R5656:Mast3 UTSW 8 70786221 missense probably damaging 1.00
R5920:Mast3 UTSW 8 70787933 missense probably benign 0.00
R6177:Mast3 UTSW 8 70790018 missense probably damaging 1.00
R6186:Mast3 UTSW 8 70785483 missense probably damaging 1.00
R6407:Mast3 UTSW 8 70782128 missense probably benign 0.02
R6614:Mast3 UTSW 8 70781966 missense possibly damaging 0.95
R6804:Mast3 UTSW 8 70786732 missense probably benign 0.29
R6873:Mast3 UTSW 8 70786592 nonsense probably null
R6930:Mast3 UTSW 8 70799471 nonsense probably null
R6948:Mast3 UTSW 8 70785482 missense probably damaging 1.00
R7084:Mast3 UTSW 8 70779473 missense probably benign 0.14
R7253:Mast3 UTSW 8 70789682 critical splice donor site probably null
R7316:Mast3 UTSW 8 70779788 missense probably damaging 1.00
R7357:Mast3 UTSW 8 70784859 missense probably damaging 1.00
R7405:Mast3 UTSW 8 70786171 missense probably damaging 1.00
R7429:Mast3 UTSW 8 70780303 missense probably damaging 1.00
R7430:Mast3 UTSW 8 70780303 missense probably damaging 1.00
R7521:Mast3 UTSW 8 70788768 missense probably benign 0.16
R7576:Mast3 UTSW 8 70781194 missense probably damaging 1.00
R7933:Mast3 UTSW 8 70786635 missense probably damaging 1.00
R7998:Mast3 UTSW 8 70783570 missense probably benign
R8021:Mast3 UTSW 8 70788252 missense probably benign 0.02
R8204:Mast3 UTSW 8 70788281 missense probably benign 0.00
R8327:Mast3 UTSW 8 70779418 missense probably damaging 1.00
R8357:Mast3 UTSW 8 70780441 missense probably benign 0.39
R8415:Mast3 UTSW 8 70781222 missense probably damaging 1.00
R8457:Mast3 UTSW 8 70780441 missense probably benign 0.39
Z1177:Mast3 UTSW 8 70789038 critical splice acceptor site probably null
Protein Function and Prediction

MAST3 is a MAST kinase and inflammatory bowel disease risk factor (1).  MAST3 has a PDZ domain that mediates binding to PTEN (2) and two kinase domains. Knockdown of MAST3 results in a decrease in TLR4-dependent NF-κB activity after stimulation with lipopolysaccharide (LPS) (1).  Labbe et al. propose that MAST3 stabilizes and/or phosphorylates a component of the TLR4 cascade downstream of the receptor and upstream of NF-κB activation to regulate NF-κB activity (1). Further studies determined that the MAST3-regulated genes (e.g., proinflammatory cytokines, regulators of NF-κB, interferon induced genes, and genes involved in adhesion and cell migration) are involved in immune responses to intestinal inflammation through changes in gene expression (3).

Expression/Localization

RT-PCR detected variable MAST3 expression in all tissues examined, with highest levels in kidney, brain, and small intestine (4). MAST3 is constitutively expressed in CD4+ and CD8+ T cells and CD19+ B cells (1).

References
Posted On2012-12-21
Science WriterAnne Murray