Incidental Mutation 'R3973:Mast1'
ID 312937
Institutional Source Beutler Lab
Gene Symbol Mast1
Ensembl Gene ENSMUSG00000053693
Gene Name microtubule associated serine/threonine kinase 1
Synonyms 9430008B02Rik, SAST, SAST170
MMRRC Submission 040841-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3973 (G1)
Quality Score 87
Status Validated
Chromosome 8
Chromosomal Location 85638532-85663988 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85645393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 684 (Y684C)
Ref Sequence ENSEMBL: ENSMUSP00000105363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109741] [ENSMUST00000119820]
AlphaFold Q9R1L5
Predicted Effect probably damaging
Transcript: ENSMUST00000109741
AA Change: Y684C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105363
Gene: ENSMUSG00000053693
AA Change: Y684C

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 benign
Transcript: ENSMUST00000119820
SMART Domains Protein: ENSMUSP00000113547
Gene: ENSMUSG00000053693

DomainStartEndE-ValueType
Pfam:DUF1908 61 338 5.1e-148 PFAM
S_TKc 376 644 2.79e-86 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130923
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138221
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148573
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153000
Meta Mutation Damage Score 0.6835 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.3%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T C 4: 148,029,488 (GRCm39) I486T probably damaging Het
4933427D14Rik T C 11: 72,089,567 (GRCm39) R106G probably damaging Het
Cfap54 A G 10: 92,675,333 (GRCm39) S2863P possibly damaging Het
Copa T A 1: 171,948,812 (GRCm39) S1155T probably benign Het
Crot T C 5: 9,027,541 (GRCm39) T264A probably benign Het
Ddx3y G A Y: 1,267,170 (GRCm39) A232V probably damaging Het
Dst T G 1: 34,050,979 (GRCm39) V25G probably benign Het
Ehbp1 C T 11: 22,087,867 (GRCm39) A406T probably benign Het
Eml5 A T 12: 98,768,724 (GRCm39) probably benign Het
Eps8 A T 6: 137,486,153 (GRCm39) M453K probably benign Het
Galnt3 T C 2: 65,937,374 (GRCm39) D112G possibly damaging Het
Glra4 C T X: 135,663,542 (GRCm39) A336T probably damaging Het
Gmppb A G 9: 107,927,338 (GRCm39) D95G probably benign Het
Gprc6a T C 10: 51,504,544 (GRCm39) Y100C possibly damaging Het
Gpx6 C A 13: 21,501,828 (GRCm39) S150Y probably damaging Het
Hsd17b3 A T 13: 64,207,300 (GRCm39) V247D probably damaging Het
Htr7 T C 19: 36,034,160 (GRCm39) D165G probably damaging Het
Igha T C 12: 113,219,972 (GRCm39) probably benign Het
Igsf10 A G 3: 59,239,345 (GRCm39) C279R probably damaging Het
Irak4 A G 15: 94,452,621 (GRCm39) E182G possibly damaging Het
Lipo3 A T 19: 33,535,723 (GRCm39) V274E probably damaging Het
Lrpprc A C 17: 85,078,269 (GRCm39) probably null Het
Mdn1 T C 4: 32,722,363 (GRCm39) F2382L probably benign Het
Mepe C T 5: 104,484,944 (GRCm39) P28L probably benign Het
Mrgpra3 T A 7: 47,239,414 (GRCm39) I171F probably benign Het
Muc2 T A 7: 141,300,541 (GRCm39) probably benign Het
Myh3 C T 11: 66,987,262 (GRCm39) Q1371* probably null Het
Nodal T A 10: 61,258,833 (GRCm39) V90E probably benign Het
Npas4 A T 19: 5,036,579 (GRCm39) H528Q probably benign Het
Nt5dc3 T C 10: 86,660,100 (GRCm39) V382A probably damaging Het
Pcdh18 G A 3: 49,709,035 (GRCm39) T293I probably damaging Het
Phf20l1 A G 15: 66,513,665 (GRCm39) D947G probably damaging Het
Phf8-ps A T 17: 33,285,405 (GRCm39) S466T probably benign Het
Pla2r1 A G 2: 60,279,306 (GRCm39) V758A probably benign Het
Plod2 G T 9: 92,480,672 (GRCm39) G422* probably null Het
Ppp1r12a T C 10: 108,089,341 (GRCm39) V660A probably benign Het
Prdm6 T C 18: 53,673,278 (GRCm39) I186T possibly damaging Het
Prkd3 G A 17: 79,266,570 (GRCm39) probably benign Het
Prrc2a A G 17: 35,376,908 (GRCm39) L734P probably damaging Het
Rnf128 C A X: 138,565,271 (GRCm39) L282I probably damaging Het
Rnf213 A G 11: 119,359,879 (GRCm39) N4424S Het
Scrn3 T C 2: 73,166,121 (GRCm39) S385P possibly damaging Het
Serpina1d A T 12: 103,734,107 (GRCm39) S66T probably benign Het
Setd3 T C 12: 108,131,417 (GRCm39) K3R possibly damaging Het
Slc2a7 A G 4: 150,242,667 (GRCm39) probably null Het
Smad4 G T 18: 73,810,807 (GRCm39) T59K possibly damaging Het
Spc25 A G 2: 69,032,945 (GRCm39) L60P probably damaging Het
Stam A C 2: 14,143,772 (GRCm39) H354P probably damaging Het
Tesk1 C T 4: 43,445,786 (GRCm39) P280S possibly damaging Het
Tmem120a C G 5: 135,765,131 (GRCm39) R254P probably benign Het
Traf5 T C 1: 191,729,837 (GRCm39) T405A probably benign Het
Trav7-4 A G 14: 53,699,119 (GRCm39) S89G probably benign Het
Tsc22d1 T C 14: 76,656,049 (GRCm39) S761P probably damaging Het
Ugt1a10 C A 1: 88,143,862 (GRCm39) H361N probably damaging Het
Ugt2b1 C A 5: 87,065,534 (GRCm39) V502L probably benign Het
Vip T A 10: 5,592,590 (GRCm39) S77T possibly damaging Het
Wdr72 A T 9: 74,125,979 (GRCm39) M1025L probably benign Het
Zfp541 A G 7: 15,806,147 (GRCm39) D94G probably damaging 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
IGL02716:Mast1 APN 8 85,662,352 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AAGGCTTTGCACAGCTTTGG -3'
(R):5'- AGGGTGCTGTAAACTCATCTGG -3'

Sequencing Primer
(F):5'- ACAAGACCTCTCAACTCTCTAGTTC -3'
(R):5'- GCTGTAAACTCATCTGGTATTGTAGC -3'
Posted On 2015-04-30