Incidental Mutation 'IGL02716:Mast1'
ID 304764
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mast1
Ensembl Gene ENSMUSG00000053693
Gene Name microtubule associated serine/threonine kinase 1
Synonyms 9430008B02Rik, SAST, SAST170
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02716
Quality Score
Status
Chromosome 8
Chromosomal Location 85638532-85663988 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 85662352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 52 (P52Q)
Ref Sequence ENSEMBL: ENSMUSP00000113547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109741] [ENSMUST00000119820]
AlphaFold Q9R1L5
Predicted Effect probably damaging
Transcript: ENSMUST00000109741
AA Change: P52Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105363
Gene: ENSMUSG00000053693
AA Change: P52Q

DomainStartEndE-ValueType
Pfam:DUF1908 61 337 1.4e-136 PFAM
S_TKc 376 649 4.07e-97 SMART
S_TK_X 650 710 6.23e-2 SMART
low complexity region 820 836 N/A INTRINSIC
low complexity region 863 878 N/A INTRINSIC
low complexity region 933 961 N/A INTRINSIC
PDZ 977 1057 3.49e-14 SMART
low complexity region 1104 1132 N/A INTRINSIC
low complexity region 1149 1174 N/A INTRINSIC
low complexity region 1212 1224 N/A INTRINSIC
low complexity region 1243 1252 N/A INTRINSIC
low complexity region 1479 1492 N/A INTRINSIC
low complexity region 1519 1535 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119820
AA Change: P52Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113547
Gene: ENSMUSG00000053693
AA Change: P52Q

DomainStartEndE-ValueType
Pfam:DUF1908 61 338 5.1e-148 PFAM
S_TKc 376 644 2.79e-86 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128356
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 T C 11: 54,218,102 (GRCm39) S212P probably benign Het
Ago2 C T 15: 72,983,576 (GRCm39) R711Q possibly damaging Het
Akp3 A C 1: 87,053,201 (GRCm39) D91A probably damaging Het
Arhgap12 T A 18: 6,111,857 (GRCm39) Q169L possibly damaging Het
Aspm A G 1: 139,407,425 (GRCm39) Y2104C probably damaging Het
Baz2b G A 2: 59,792,868 (GRCm39) S420L possibly damaging Het
Cenpo T C 12: 4,265,390 (GRCm39) N210S possibly damaging Het
Chadl T C 15: 81,580,116 (GRCm39) N40D probably damaging Het
Crebbp T C 16: 3,932,742 (GRCm39) E586G probably benign Het
Cts7 T A 13: 61,504,422 (GRCm39) Q47L probably benign Het
Cyp2c40 C A 19: 39,795,980 (GRCm39) D133Y possibly damaging Het
Dnah3 A T 7: 119,536,246 (GRCm39) M3679K probably damaging Het
Dym T C 18: 75,419,754 (GRCm39) Y642H probably damaging Het
Efr3b T C 12: 4,034,627 (GRCm39) D65G probably damaging Het
Elmo1 T A 13: 20,633,672 (GRCm39) F445I probably damaging Het
Epdr1 C T 13: 19,778,740 (GRCm39) V119M probably benign Het
Epha4 G T 1: 77,357,602 (GRCm39) R799S probably damaging Het
Esyt3 A T 9: 99,199,277 (GRCm39) V778E probably damaging Het
F10 A T 8: 13,098,177 (GRCm39) K127* probably null Het
Fcgbp G A 7: 27,800,859 (GRCm39) E1302K probably damaging Het
Fer1l4 A G 2: 155,871,635 (GRCm39) F1382L probably damaging Het
Fhad1 T C 4: 141,645,642 (GRCm39) I318V possibly damaging Het
Fscn2 A T 11: 120,257,550 (GRCm39) T304S probably benign Het
Gab1 A T 8: 81,496,323 (GRCm39) L659Q probably damaging Het
Gm4845 A C 1: 141,184,576 (GRCm39) noncoding transcript Het
Gm572 A G 4: 148,739,327 (GRCm39) M52V probably benign Het
Hmgcr T C 13: 96,796,520 (GRCm39) probably null Het
Kcnk5 T C 14: 20,231,496 (GRCm39) T9A probably damaging Het
Krt87 A C 15: 101,332,485 (GRCm39) F243V possibly damaging Het
Lyset A G 12: 102,711,088 (GRCm39) T104A probably benign Het
Mcf2l A T 8: 13,047,277 (GRCm39) Q211L probably benign Het
Mtrex T G 13: 113,019,680 (GRCm39) D810A probably benign Het
Mtus2 C A 5: 148,173,120 (GRCm39) P968T probably benign Het
Mylk2 T C 2: 152,764,073 (GRCm39) *614R probably null Het
Myo15b A T 11: 115,774,535 (GRCm39) E2049V probably benign Het
Myo6 A T 9: 80,176,976 (GRCm39) H581L probably damaging Het
Numb A T 12: 83,847,982 (GRCm39) S241T possibly damaging Het
Or1j10 A G 2: 36,267,355 (GRCm39) D189G possibly damaging Het
Or4k77 A T 2: 111,199,126 (GRCm39) I50F probably benign Het
Or4x11 G T 2: 89,868,138 (GRCm39) V292L probably benign Het
Phldb2 A G 16: 45,621,953 (GRCm39) S676P probably damaging Het
Rttn G A 18: 89,066,541 (GRCm39) E1196K possibly damaging Het
Slc13a3 G A 2: 165,248,635 (GRCm39) P548S unknown Het
Slc2a7 A G 4: 150,244,467 (GRCm39) probably benign Het
Slc37a1 T C 17: 31,547,135 (GRCm39) S261P possibly damaging Het
Spryd3 T A 15: 102,041,896 (GRCm39) Y42F possibly damaging Het
Srrm3 A G 5: 135,883,287 (GRCm39) probably null Het
Stambp G A 6: 83,533,372 (GRCm39) T297I probably damaging Het
Sypl1 T A 12: 33,017,668 (GRCm39) Y129N probably damaging Het
Syt14 G A 1: 192,662,843 (GRCm39) P368S possibly damaging Het
Tas2r122 T C 6: 132,688,227 (GRCm39) D222G probably damaging Het
Tead2 C A 7: 44,881,720 (GRCm39) Y79* probably null Het
Uso1 T C 5: 92,321,794 (GRCm39) V229A probably damaging Het
Vmn1r238 A G 18: 3,123,124 (GRCm39) S97P probably damaging Het
Vmn2r82 T A 10: 79,213,678 (GRCm39) V88D probably benign Het
Vps29 A G 5: 122,500,129 (GRCm39) T85A probably benign Het
Wdr90 T A 17: 26,076,194 (GRCm39) S500C probably damaging Het
Zfp958 G A 8: 4,675,967 (GRCm39) probably null Het
Other mutations in Mast1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01395:Mast1 APN 8 85,639,444 (GRCm39) missense possibly damaging 0.87
IGL01862:Mast1 APN 8 85,639,875 (GRCm39) splice site probably null
IGL01918:Mast1 APN 8 85,647,838 (GRCm39) missense probably damaging 1.00
IGL02212:Mast1 APN 8 85,648,026 (GRCm39) missense probably damaging 1.00
IGL02221:Mast1 APN 8 85,645,384 (GRCm39) missense possibly damaging 0.92
IGL02370:Mast1 APN 8 85,638,883 (GRCm39) missense probably benign
IGL02470:Mast1 APN 8 85,647,841 (GRCm39) missense probably damaging 1.00
IGL02596:Mast1 APN 8 85,644,400 (GRCm39) missense probably benign
IGL02987:Mast1 APN 8 85,652,348 (GRCm39) missense possibly damaging 0.75
IGL03287:Mast1 APN 8 85,639,982 (GRCm39) missense probably benign 0.01
R0255:Mast1 UTSW 8 85,638,650 (GRCm39) missense probably benign
R0388:Mast1 UTSW 8 85,642,166 (GRCm39) missense probably benign 0.13
R0480:Mast1 UTSW 8 85,639,718 (GRCm39) missense probably damaging 0.99
R0727:Mast1 UTSW 8 85,648,044 (GRCm39) missense probably damaging 1.00
R1175:Mast1 UTSW 8 85,651,956 (GRCm39) missense probably benign 0.29
R1297:Mast1 UTSW 8 85,639,345 (GRCm39) missense probably benign 0.05
R1328:Mast1 UTSW 8 85,644,617 (GRCm39) intron probably benign
R1454:Mast1 UTSW 8 85,647,264 (GRCm39) missense probably damaging 1.00
R1532:Mast1 UTSW 8 85,655,238 (GRCm39) nonsense probably null
R1752:Mast1 UTSW 8 85,651,965 (GRCm39) missense probably benign
R1777:Mast1 UTSW 8 85,638,697 (GRCm39) missense probably benign
R1905:Mast1 UTSW 8 85,642,895 (GRCm39) missense probably damaging 1.00
R1906:Mast1 UTSW 8 85,642,895 (GRCm39) missense probably damaging 1.00
R1907:Mast1 UTSW 8 85,642,895 (GRCm39) missense probably damaging 1.00
R2056:Mast1 UTSW 8 85,646,995 (GRCm39) missense possibly damaging 0.95
R2071:Mast1 UTSW 8 85,647,823 (GRCm39) missense probably damaging 1.00
R2145:Mast1 UTSW 8 85,648,107 (GRCm39) missense probably damaging 1.00
R2318:Mast1 UTSW 8 85,647,754 (GRCm39) missense probably damaging 1.00
R2842:Mast1 UTSW 8 85,650,537 (GRCm39) missense probably damaging 1.00
R3870:Mast1 UTSW 8 85,645,360 (GRCm39) missense probably damaging 1.00
R3895:Mast1 UTSW 8 85,662,352 (GRCm39) missense probably damaging 1.00
R3973:Mast1 UTSW 8 85,645,393 (GRCm39) missense probably damaging 1.00
R4405:Mast1 UTSW 8 85,647,520 (GRCm39) missense probably damaging 1.00
R4533:Mast1 UTSW 8 85,647,990 (GRCm39) missense probably damaging 1.00
R4725:Mast1 UTSW 8 85,655,635 (GRCm39) missense possibly damaging 0.93
R4770:Mast1 UTSW 8 85,655,875 (GRCm39) missense probably benign 0.02
R4776:Mast1 UTSW 8 85,663,822 (GRCm39) critical splice donor site probably null
R4835:Mast1 UTSW 8 85,650,408 (GRCm39) missense probably damaging 1.00
R4871:Mast1 UTSW 8 85,647,287 (GRCm39) missense probably damaging 1.00
R4953:Mast1 UTSW 8 85,645,357 (GRCm39) missense probably damaging 0.99
R4960:Mast1 UTSW 8 85,644,500 (GRCm39) missense probably benign
R4978:Mast1 UTSW 8 85,662,416 (GRCm39) missense probably damaging 0.98
R5164:Mast1 UTSW 8 85,640,147 (GRCm39) unclassified probably benign
R5235:Mast1 UTSW 8 85,640,068 (GRCm39) missense probably damaging 1.00
R5297:Mast1 UTSW 8 85,639,947 (GRCm39) critical splice donor site probably null
R5463:Mast1 UTSW 8 85,652,136 (GRCm39) missense probably damaging 1.00
R5546:Mast1 UTSW 8 85,642,889 (GRCm39) missense probably damaging 1.00
R5651:Mast1 UTSW 8 85,655,597 (GRCm39) nonsense probably null
R6124:Mast1 UTSW 8 85,651,936 (GRCm39) missense probably benign 0.01
R6213:Mast1 UTSW 8 85,642,198 (GRCm39) missense probably damaging 1.00
R6717:Mast1 UTSW 8 85,644,383 (GRCm39) missense probably benign
R7000:Mast1 UTSW 8 85,655,598 (GRCm39) missense probably damaging 1.00
R7011:Mast1 UTSW 8 85,638,574 (GRCm39) nonsense probably null
R7164:Mast1 UTSW 8 85,661,933 (GRCm39) missense possibly damaging 0.81
R7695:Mast1 UTSW 8 85,647,557 (GRCm39) missense probably damaging 1.00
R7845:Mast1 UTSW 8 85,651,954 (GRCm39) nonsense probably null
R7882:Mast1 UTSW 8 85,639,947 (GRCm39) critical splice donor site probably null
R8167:Mast1 UTSW 8 85,647,987 (GRCm39) missense probably damaging 1.00
R8197:Mast1 UTSW 8 85,639,450 (GRCm39) missense possibly damaging 0.90
R8773:Mast1 UTSW 8 85,642,953 (GRCm39) missense probably damaging 1.00
R9477:Mast1 UTSW 8 85,638,779 (GRCm39) missense probably benign 0.18
R9526:Mast1 UTSW 8 85,647,805 (GRCm39) missense probably damaging 1.00
R9557:Mast1 UTSW 8 85,657,474 (GRCm39) missense probably damaging 1.00
R9655:Mast1 UTSW 8 85,650,660 (GRCm39) missense probably damaging 1.00
X0066:Mast1 UTSW 8 85,647,507 (GRCm39) missense probably damaging 1.00
Z1176:Mast1 UTSW 8 85,645,310 (GRCm39) missense probably damaging 1.00
Z1176:Mast1 UTSW 8 85,639,088 (GRCm39) missense probably damaging 0.97
Z1177:Mast1 UTSW 8 85,647,075 (GRCm39) missense probably benign 0.09
Posted On 2015-04-16