Incidental Mutation 'IGL02622:Mastl'
ID 300890
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mastl
Ensembl Gene ENSMUSG00000026779
Gene Name microtubule associated serine/threonine kinase-like
Synonyms 2700091H24Rik, THC2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02622
Quality Score
Status
Chromosome 2
Chromosomal Location 23115606-23156024 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23132845 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 622 (V622A)
Ref Sequence ENSEMBL: ENSMUSP00000028119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028119]
AlphaFold Q8C0P0
Predicted Effect probably benign
Transcript: ENSMUST00000028119
AA Change: V622A

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000028119
Gene: ENSMUSG00000026779
AA Change: V622A

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
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik C T 5: 109,739,235 V32M possibly damaging Het
Abca1 T C 4: 53,034,046 D2228G probably damaging Het
Actr5 A G 2: 158,638,808 K582R probably benign Het
Armc8 T C 9: 99,527,069 probably benign Het
Atp7b T C 8: 22,028,438 D128G possibly damaging Het
Cemip C A 7: 83,964,175 G605V probably damaging Het
Cep112 A G 11: 108,518,683 H133R probably benign Het
Cops3 C T 11: 59,833,038 D98N probably benign Het
Crlf3 T C 11: 80,059,324 D160G probably damaging Het
Csn1s1 T C 5: 87,677,642 probably null Het
Ddx60 C A 8: 61,942,436 probably null Het
Depdc1a T A 3: 159,515,510 N159K probably benign Het
Dsg3 A T 18: 20,528,947 probably benign Het
Eif4g3 A C 4: 138,097,366 probably benign Het
Ercc6l2 T A 13: 63,853,623 probably null Het
Fbxw19 T A 9: 109,493,534 M123L probably benign Het
Fus T A 7: 127,985,622 L100H probably damaging Het
Gm29247 A G 1: 44,107,109 probably benign Het
Gucy2e T C 11: 69,225,031 T842A probably damaging Het
Inpp4a A T 1: 37,379,034 Q519L probably benign Het
Kcnip1 C A 11: 33,643,290 probably benign Het
Lyst T A 13: 13,681,390 L2432H probably damaging Het
Myh15 A G 16: 49,176,954 T1712A probably benign Het
Nlrp1a T C 11: 71,123,000 T475A possibly damaging Het
Nr4a3 G A 4: 48,051,649 M134I probably benign Het
Olfr444 T G 6: 42,955,729 V77G probably damaging Het
Olfr484 T A 7: 108,124,388 I292F probably damaging Het
Olfr554 T A 7: 102,641,083 L279Q probably damaging Het
Paqr6 T G 3: 88,365,778 I52S probably damaging Het
Pcdhb4 T A 18: 37,309,668 L677Q probably benign Het
Phax C T 18: 56,584,300 R250* probably null Het
Pkn3 A G 2: 30,083,146 D356G probably benign Het
Pnpla2 T C 7: 141,455,372 L29P probably damaging Het
Rad18 G A 6: 112,687,987 T62I probably damaging Het
Riok3 C T 18: 12,142,960 R238C probably benign Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sccpdh G T 1: 179,676,460 G125W probably damaging Het
Skint11 T A 4: 114,194,728 L91H probably damaging Het
Slc25a45 A G 19: 5,878,697 probably benign Het
Slco2a1 C T 9: 103,076,929 Q370* probably null Het
Szt2 A G 4: 118,392,890 S474P probably damaging Het
Tchh C A 3: 93,443,412 T53K probably damaging Het
Tiam1 T C 16: 89,798,700 T1298A possibly damaging Het
Tmem161a C T 8: 70,181,237 Q183* probably null Het
Trim26 C A 17: 36,850,905 A72E probably damaging Het
Trmt11 A T 10: 30,559,173 I330K probably benign Het
Tspan1 A G 4: 116,163,855 probably benign Het
Ubr4 C A 4: 139,467,250 C4286* probably null Het
Unc13a T C 8: 71,652,514 probably null Het
Vmn1r20 T A 6: 57,432,598 F303Y probably damaging Het
Washc2 T C 6: 116,214,018 probably benign Het
Xab2 C T 8: 3,611,699 D585N probably benign Het
Ythdc2 C T 18: 44,859,934 L791F probably damaging Het
Zfp319 C A 8: 95,328,961 V205F probably damaging Het
Zscan25 A T 5: 145,290,702 H392L probably damaging Het
Zswim6 A T 13: 107,748,251 noncoding transcript Het
Other mutations in Mastl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01080:Mastl APN 2 23146148 missense probably damaging 1.00
IGL02103:Mastl APN 2 23139998 missense probably benign 0.01
IGL02826:Mastl APN 2 23145409 missense probably damaging 1.00
IGL02896:Mastl APN 2 23131767 missense probably damaging 1.00
IGL03024:Mastl APN 2 23139919 missense probably damaging 1.00
IGL03038:Mastl APN 2 23140615 splice site probably benign
R0600:Mastl UTSW 2 23133346 missense probably benign 0.06
R0712:Mastl UTSW 2 23150993 missense probably damaging 1.00
R1168:Mastl UTSW 2 23133132 missense probably benign 0.06
R1750:Mastl UTSW 2 23146081 nonsense probably null
R1911:Mastl UTSW 2 23132680 nonsense probably null
R2051:Mastl UTSW 2 23132824 missense possibly damaging 0.49
R2859:Mastl UTSW 2 23139967 missense probably damaging 0.99
R3799:Mastl UTSW 2 23140492 splice site probably benign
R3840:Mastl UTSW 2 23140551 missense probably damaging 1.00
R4807:Mastl UTSW 2 23132843 missense probably benign
R4818:Mastl UTSW 2 23137026 missense probably benign 0.00
R4845:Mastl UTSW 2 23139998 missense probably benign 0.01
R5338:Mastl UTSW 2 23133491 missense probably benign 0.01
R5364:Mastl UTSW 2 23133653 missense probably benign 0.16
R6077:Mastl UTSW 2 23155794 missense probably damaging 0.99
R6158:Mastl UTSW 2 23132772 missense possibly damaging 0.92
R6450:Mastl UTSW 2 23120929 missense probably damaging 1.00
R6602:Mastl UTSW 2 23132677 missense probably benign 0.04
R6788:Mastl UTSW 2 23133698 missense probably benign 0.22
R6908:Mastl UTSW 2 23155976 start gained probably benign
R7058:Mastl UTSW 2 23133413 nonsense probably null
R7233:Mastl UTSW 2 23133658 missense probably benign
R7249:Mastl UTSW 2 23146139 missense probably damaging 1.00
R7347:Mastl UTSW 2 23133389 missense probably damaging 0.99
R7371:Mastl UTSW 2 23140573 missense probably damaging 1.00
R7726:Mastl UTSW 2 23140795 splice site probably null
R8057:Mastl UTSW 2 23133554 missense possibly damaging 0.75
R8288:Mastl UTSW 2 23133359 missense probably damaging 1.00
R9101:Mastl UTSW 2 23118437 makesense probably null
Posted On 2015-04-16