Incidental Mutation 'R3840:Mastl'
ID 277093
Institutional Source Beutler Lab
Gene Symbol Mastl
Ensembl Gene ENSMUSG00000026779
Gene Name microtubule associated serine/threonine kinase-like
Synonyms THC2, 2700091H24Rik
MMRRC Submission 040780-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3840 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 23006549-23046036 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23030563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 202 (D202G)
Ref Sequence ENSEMBL: ENSMUSP00000028119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028119]
AlphaFold Q8C0P0
Predicted Effect probably damaging
Transcript: ENSMUST00000028119
AA Change: D202G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028119
Gene: ENSMUSG00000026779
AA Change: D202G

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
Pfam:Pkinase_Tyr 34 194 2.6e-24 PFAM
Pfam:Pkinase 34 200 2.3e-39 PFAM
low complexity region 297 313 N/A INTRINSIC
Pfam:Pkinase 710 821 6.4e-19 PFAM
Pfam:Pkinase_Tyr 714 818 5.1e-6 PFAM
S_TK_X 822 864 2.01e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136207
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a microtubule-associated serine/threonine kinase. Mutations at this locus have been associated with autosomal dominant thrombocytopenia, also known as thrombocytopenia-2. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality and mitotic abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik A T 18: 6,620,104 (GRCm39) K11N probably benign Het
Abcc8 A G 7: 45,757,524 (GRCm39) I1375T possibly damaging Het
Ate1 A T 7: 130,117,867 (GRCm39) D39E probably damaging Het
BC035947 G T 1: 78,474,482 (GRCm39) N683K probably benign Het
Cdca2 A T 14: 67,917,720 (GRCm39) Y559* probably null Het
Cmya5 A G 13: 93,231,140 (GRCm39) V1316A probably damaging Het
Cntnap5b C T 1: 100,311,202 (GRCm39) T936I possibly damaging Het
Col6a5 T C 9: 105,805,810 (GRCm39) N1032S unknown Het
Cracd A T 5: 77,006,858 (GRCm39) Q1073L unknown Het
Epc2 A G 2: 49,378,750 (GRCm39) K68R probably damaging Het
Erbb3 A T 10: 128,406,193 (GRCm39) F1075I probably benign Het
F11r G T 1: 171,288,457 (GRCm39) R100L probably damaging Het
Fam171b C A 2: 83,710,406 (GRCm39) Q693K possibly damaging Het
Fam83c C T 2: 155,676,668 (GRCm39) R34H probably benign Het
Fmn2 GAAGA GAAGAAAGA 1: 174,409,599 (GRCm39) probably null Het
Gask1b T A 3: 79,815,897 (GRCm39) D302E probably benign Het
Ggt1 T A 10: 75,417,219 (GRCm39) Y5* probably null Het
Hsph1 T A 5: 149,544,180 (GRCm39) probably null Het
Jhy T A 9: 40,856,142 (GRCm39) E115V probably benign Het
Kcnu1 G T 8: 26,375,380 (GRCm39) V365L possibly damaging Het
Lrrc4c A G 2: 97,460,537 (GRCm39) T388A probably damaging Het
Medag T A 5: 149,350,888 (GRCm39) I121N probably damaging Het
Mideas T C 12: 84,218,383 (GRCm39) R526G probably damaging Het
Mocos C T 18: 24,809,681 (GRCm39) A428V probably damaging Het
Mok C T 12: 110,781,591 (GRCm39) V59M probably benign Het
Neb C A 2: 52,097,672 (GRCm39) probably null Het
Nr2c2 C T 6: 92,140,119 (GRCm39) R464W probably damaging Het
Or10al7 A G 17: 38,366,239 (GRCm39) S73P probably damaging Het
Or52s1 G A 7: 102,861,900 (GRCm39) G267R probably damaging Het
Otud1 G T 2: 19,663,554 (GRCm39) E228* probably null Het
Pcdhga11 A T 18: 37,890,602 (GRCm39) N537Y probably damaging Het
Pkd1l1 T C 11: 8,839,050 (GRCm39) Y878C probably damaging Het
Podxl C T 6: 31,500,016 (GRCm39) V485I probably damaging Het
Psmd12 T C 11: 107,376,398 (GRCm39) I44T probably benign Het
Rap1gap T C 4: 137,444,758 (GRCm39) F182S probably damaging Het
Slc22a13 T C 9: 119,037,855 (GRCm39) D91G probably benign Het
Slc4a11 A G 2: 130,529,974 (GRCm39) F268S probably damaging Het
Snap91 C T 9: 86,721,618 (GRCm39) V74M probably damaging Het
Tmem87b T A 2: 128,668,304 (GRCm39) L150* probably null Het
Tmprss7 T A 16: 45,481,195 (GRCm39) R664* probably null Het
Tnfrsf11b T A 15: 54,115,478 (GRCm39) H373L probably damaging Het
Tnfrsf23 A G 7: 143,235,266 (GRCm39) S33P probably benign Het
Tro A G X: 149,429,198 (GRCm39) probably benign Het
Tulp1 A G 17: 28,572,689 (GRCm39) V489A probably damaging Het
Wac C A 18: 7,918,535 (GRCm39) P416H probably damaging Het
Zap70 T A 1: 36,817,498 (GRCm39) I247N probably damaging Het
Zfp617 G A 8: 72,685,961 (GRCm39) G97E probably damaging Het
Other mutations in Mastl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01080:Mastl APN 2 23,036,160 (GRCm39) missense probably damaging 1.00
IGL02103:Mastl APN 2 23,030,010 (GRCm39) missense probably benign 0.01
IGL02622:Mastl APN 2 23,022,857 (GRCm39) missense probably benign 0.12
IGL02826:Mastl APN 2 23,035,421 (GRCm39) missense probably damaging 1.00
IGL02896:Mastl APN 2 23,021,779 (GRCm39) missense probably damaging 1.00
IGL03024:Mastl APN 2 23,029,931 (GRCm39) missense probably damaging 1.00
IGL03038:Mastl APN 2 23,030,627 (GRCm39) splice site probably benign
R0600:Mastl UTSW 2 23,023,358 (GRCm39) missense probably benign 0.06
R0712:Mastl UTSW 2 23,041,005 (GRCm39) missense probably damaging 1.00
R1168:Mastl UTSW 2 23,023,144 (GRCm39) missense probably benign 0.06
R1750:Mastl UTSW 2 23,036,093 (GRCm39) nonsense probably null
R1911:Mastl UTSW 2 23,022,692 (GRCm39) nonsense probably null
R2051:Mastl UTSW 2 23,022,836 (GRCm39) missense possibly damaging 0.49
R2859:Mastl UTSW 2 23,029,979 (GRCm39) missense probably damaging 0.99
R3799:Mastl UTSW 2 23,030,504 (GRCm39) splice site probably benign
R4807:Mastl UTSW 2 23,022,855 (GRCm39) missense probably benign
R4818:Mastl UTSW 2 23,027,038 (GRCm39) missense probably benign 0.00
R4845:Mastl UTSW 2 23,030,010 (GRCm39) missense probably benign 0.01
R5338:Mastl UTSW 2 23,023,503 (GRCm39) missense probably benign 0.01
R5364:Mastl UTSW 2 23,023,665 (GRCm39) missense probably benign 0.16
R6077:Mastl UTSW 2 23,045,806 (GRCm39) missense probably damaging 0.99
R6158:Mastl UTSW 2 23,022,784 (GRCm39) missense possibly damaging 0.92
R6450:Mastl UTSW 2 23,010,941 (GRCm39) missense probably damaging 1.00
R6602:Mastl UTSW 2 23,022,689 (GRCm39) missense probably benign 0.04
R6788:Mastl UTSW 2 23,023,710 (GRCm39) missense probably benign 0.22
R6908:Mastl UTSW 2 23,045,988 (GRCm39) start gained probably benign
R7058:Mastl UTSW 2 23,023,425 (GRCm39) nonsense probably null
R7233:Mastl UTSW 2 23,023,670 (GRCm39) missense probably benign
R7249:Mastl UTSW 2 23,036,151 (GRCm39) missense probably damaging 1.00
R7347:Mastl UTSW 2 23,023,401 (GRCm39) missense probably damaging 0.99
R7371:Mastl UTSW 2 23,030,585 (GRCm39) missense probably damaging 1.00
R7726:Mastl UTSW 2 23,030,807 (GRCm39) splice site probably null
R8057:Mastl UTSW 2 23,023,566 (GRCm39) missense possibly damaging 0.75
R8288:Mastl UTSW 2 23,023,371 (GRCm39) missense probably damaging 1.00
R9101:Mastl UTSW 2 23,008,449 (GRCm39) makesense probably null
Predicted Primers PCR Primer
(F):5'- CAGCAGATAGATGTTCTACCACCTG -3'
(R):5'- CTATACCAGCCAGTTCTGTGGG -3'

Sequencing Primer
(F):5'- ACTGCCAAAGGTAATCCCATCTCAG -3'
(R):5'- CTGTGGGTACAGTTTCTAACA -3'
Posted On 2015-04-06