Incidental Mutation 'IGL00916:Mast2'
ID 27231
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mast2
Ensembl Gene ENSMUSG00000003810
Gene Name microtubule associated serine/threonine kinase 2
Synonyms MAST205, Mtssk
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00916
Quality Score
Status
Chromosome 4
Chromosomal Location 116163957-116321420 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116184830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 240 (M240K)
Ref Sequence ENSEMBL: ENSMUSP00000102093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003908] [ENSMUST00000106484] [ENSMUST00000106485] [ENSMUST00000106486] [ENSMUST00000123072] [ENSMUST00000144281]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000003908
AA Change: M233K

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000003908
Gene: ENSMUSG00000003810
AA Change: M233K

DomainStartEndE-ValueType
low complexity region 38 49 N/A INTRINSIC
low complexity region 56 63 N/A INTRINSIC
Pfam:DUF1908 141 416 1.8e-148 PFAM
S_TKc 452 725 2.96e-99 SMART
S_TK_X 726 786 1.08e-1 SMART
low complexity region 849 861 N/A INTRINSIC
low complexity region 1009 1028 N/A INTRINSIC
PDZ 1049 1129 2.23e-12 SMART
low complexity region 1142 1157 N/A INTRINSIC
low complexity region 1177 1210 N/A INTRINSIC
low complexity region 1224 1249 N/A INTRINSIC
low complexity region 1279 1302 N/A INTRINSIC
low complexity region 1345 1360 N/A INTRINSIC
low complexity region 1437 1452 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106484
AA Change: M240K

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102093
Gene: ENSMUSG00000003810
AA Change: M240K

DomainStartEndE-ValueType
low complexity region 38 49 N/A INTRINSIC
low complexity region 56 63 N/A INTRINSIC
Pfam:DUF1908 141 423 1.3e-151 PFAM
S_TKc 459 732 2.96e-99 SMART
S_TK_X 733 793 1.08e-1 SMART
low complexity region 856 868 N/A INTRINSIC
low complexity region 1016 1035 N/A INTRINSIC
PDZ 1056 1136 2.23e-12 SMART
low complexity region 1149 1164 N/A INTRINSIC
low complexity region 1184 1217 N/A INTRINSIC
low complexity region 1233 1255 N/A INTRINSIC
low complexity region 1285 1308 N/A INTRINSIC
low complexity region 1351 1366 N/A INTRINSIC
low complexity region 1443 1458 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106485
AA Change: M294K

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102094
Gene: ENSMUSG00000003810
AA Change: M294K

DomainStartEndE-ValueType
low complexity region 7 26 N/A INTRINSIC
low complexity region 27 41 N/A INTRINSIC
low complexity region 99 110 N/A INTRINSIC
low complexity region 117 124 N/A INTRINSIC
Pfam:DUF1908 202 477 1.1e-148 PFAM
S_TKc 513 786 2.96e-99 SMART
S_TK_X 787 847 1.08e-1 SMART
low complexity region 910 922 N/A INTRINSIC
low complexity region 1070 1089 N/A INTRINSIC
PDZ 1110 1190 2.23e-12 SMART
low complexity region 1203 1218 N/A INTRINSIC
low complexity region 1238 1271 N/A INTRINSIC
low complexity region 1285 1310 N/A INTRINSIC
low complexity region 1340 1363 N/A INTRINSIC
low complexity region 1406 1421 N/A INTRINSIC
low complexity region 1498 1513 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106486
AA Change: M301K

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102095
Gene: ENSMUSG00000003810
AA Change: M301K

DomainStartEndE-ValueType
low complexity region 7 26 N/A INTRINSIC
low complexity region 27 41 N/A INTRINSIC
low complexity region 99 110 N/A INTRINSIC
low complexity region 117 124 N/A INTRINSIC
Pfam:DUF1908 202 483 2.9e-143 PFAM
S_TKc 520 793 2.96e-99 SMART
S_TK_X 794 854 1.08e-1 SMART
low complexity region 917 929 N/A INTRINSIC
low complexity region 1077 1096 N/A INTRINSIC
PDZ 1117 1197 2.23e-12 SMART
low complexity region 1210 1225 N/A INTRINSIC
low complexity region 1245 1278 N/A INTRINSIC
low complexity region 1294 1316 N/A INTRINSIC
low complexity region 1346 1369 N/A INTRINSIC
low complexity region 1412 1427 N/A INTRINSIC
low complexity region 1504 1519 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000123072
AA Change: M157K

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118340
Gene: ENSMUSG00000003810
AA Change: M157K

DomainStartEndE-ValueType
Pfam:DUF1908 58 203 2.9e-74 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128252
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147262
Predicted Effect probably benign
Transcript: ENSMUST00000144281
SMART Domains Protein: ENSMUSP00000122625
Gene: ENSMUSG00000003810

DomainStartEndE-ValueType
Pfam:DUF1908 57 144 2.3e-38 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: No phenotype has been reported for a gene trap strain; however, it is not yet known whether the gene trap insertion affects expression of the gene. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,075,851 (GRCm39) Q762L probably benign Het
Aldh1a1 T C 19: 20,597,361 (GRCm39) V114A probably benign Het
Ano4 T C 10: 88,833,960 (GRCm39) I459V probably benign Het
Atad5 C T 11: 80,009,826 (GRCm39) P1199S probably damaging Het
Bmp10 T C 6: 87,406,142 (GRCm39) F43S possibly damaging Het
Cd96 T C 16: 45,861,675 (GRCm39) E505G probably benign Het
Eapp T C 12: 54,739,593 (GRCm39) T75A possibly damaging Het
Emilin1 T C 5: 31,071,246 (GRCm39) Y10H probably damaging Het
Ercc6 A G 14: 32,284,612 (GRCm39) probably benign Het
Gucy2e T C 11: 69,113,923 (GRCm39) I1089V possibly damaging Het
H6pd C A 4: 150,078,925 (GRCm39) probably null Het
Igsf10 A T 3: 59,238,548 (GRCm39) F544L probably damaging Het
Il23r T C 6: 67,450,915 (GRCm39) Y188C probably damaging Het
Ilrun A G 17: 27,986,893 (GRCm39) Y278H probably damaging Het
Inpp5j T C 11: 3,452,389 (GRCm39) E287G probably damaging Het
Lrp6 T C 6: 134,461,252 (GRCm39) D735G probably damaging Het
Mreg T A 1: 72,203,291 (GRCm39) T96S probably benign Het
Mta2 A T 19: 8,924,465 (GRCm39) M220L probably benign Het
Mycbp2 A G 14: 103,528,719 (GRCm39) probably benign Het
Naip2 T A 13: 100,297,939 (GRCm39) N699I probably damaging Het
Ncapg T G 5: 45,828,534 (GRCm39) I95S probably benign Het
Ndufa13 A G 8: 70,347,069 (GRCm39) probably benign Het
Nol10 T A 12: 17,411,130 (GRCm39) probably benign Het
Parp8 T A 13: 117,063,859 (GRCm39) I85F probably damaging Het
Rgs2 T A 1: 143,877,967 (GRCm39) I78F probably damaging Het
Rpia C T 6: 70,752,086 (GRCm39) probably benign Het
Sec63 T C 10: 42,688,453 (GRCm39) S488P possibly damaging Het
Tfcp2 T G 15: 100,418,559 (GRCm39) H201P probably damaging Het
Tnfaip2 T G 12: 111,419,983 (GRCm39) I705R probably damaging Het
Ttf1 A G 2: 28,960,054 (GRCm39) N554S probably benign Het
Ulk1 A G 5: 110,940,877 (GRCm39) S351P probably damaging Het
Zp2 T A 7: 119,737,397 (GRCm39) N264Y probably damaging Het
Other mutations in Mast2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Mast2 APN 4 116,168,526 (GRCm39) missense probably benign 0.39
IGL02112:Mast2 APN 4 116,176,961 (GRCm39) missense probably damaging 1.00
R0645:Mast2 UTSW 4 116,170,043 (GRCm39) splice site probably benign
R0645:Mast2 UTSW 4 116,165,184 (GRCm39) missense probably damaging 1.00
R0883:Mast2 UTSW 4 116,168,964 (GRCm39) missense probably damaging 1.00
R1447:Mast2 UTSW 4 116,169,210 (GRCm39) missense probably benign 0.02
R1449:Mast2 UTSW 4 116,166,210 (GRCm39) missense probably damaging 1.00
R1473:Mast2 UTSW 4 116,169,152 (GRCm39) missense probably damaging 1.00
R1491:Mast2 UTSW 4 116,173,688 (GRCm39) missense possibly damaging 0.90
R1529:Mast2 UTSW 4 116,287,716 (GRCm39) missense probably benign 0.17
R1654:Mast2 UTSW 4 116,173,747 (GRCm39) critical splice acceptor site probably null
R1768:Mast2 UTSW 4 116,164,156 (GRCm39) missense probably damaging 1.00
R1807:Mast2 UTSW 4 116,167,938 (GRCm39) splice site probably benign
R1981:Mast2 UTSW 4 116,172,037 (GRCm39) missense probably damaging 1.00
R2081:Mast2 UTSW 4 116,187,671 (GRCm39) splice site probably null
R2157:Mast2 UTSW 4 116,179,480 (GRCm39) missense probably damaging 1.00
R3409:Mast2 UTSW 4 116,168,107 (GRCm39) missense possibly damaging 0.94
R3411:Mast2 UTSW 4 116,168,107 (GRCm39) missense possibly damaging 0.94
R3434:Mast2 UTSW 4 116,165,292 (GRCm39) missense probably benign 0.00
R3435:Mast2 UTSW 4 116,165,292 (GRCm39) missense probably benign 0.00
R3953:Mast2 UTSW 4 116,170,926 (GRCm39) missense probably damaging 1.00
R4056:Mast2 UTSW 4 116,194,698 (GRCm39) splice site probably benign
R4153:Mast2 UTSW 4 116,173,160 (GRCm39) missense possibly damaging 0.91
R4648:Mast2 UTSW 4 116,172,036 (GRCm39) nonsense probably null
R4671:Mast2 UTSW 4 116,165,847 (GRCm39) missense probably damaging 1.00
R4911:Mast2 UTSW 4 116,210,254 (GRCm39) missense probably benign 0.36
R4980:Mast2 UTSW 4 116,174,948 (GRCm39) missense probably damaging 1.00
R5322:Mast2 UTSW 4 116,190,608 (GRCm39) critical splice donor site probably null
R5462:Mast2 UTSW 4 116,164,655 (GRCm39) missense probably damaging 0.99
R5586:Mast2 UTSW 4 116,292,760 (GRCm39) missense probably damaging 0.99
R5750:Mast2 UTSW 4 116,166,086 (GRCm39) intron probably benign
R5771:Mast2 UTSW 4 116,190,622 (GRCm39) missense possibly damaging 0.60
R5885:Mast2 UTSW 4 116,172,035 (GRCm39) missense probably damaging 1.00
R6230:Mast2 UTSW 4 116,183,295 (GRCm39) missense probably damaging 1.00
R6347:Mast2 UTSW 4 116,174,929 (GRCm39) missense probably damaging 1.00
R6527:Mast2 UTSW 4 116,172,136 (GRCm39) missense probably damaging 0.99
R6619:Mast2 UTSW 4 116,173,694 (GRCm39) nonsense probably null
R7070:Mast2 UTSW 4 116,168,052 (GRCm39) missense probably benign 0.03
R7303:Mast2 UTSW 4 116,165,508 (GRCm39) missense possibly damaging 0.63
R7822:Mast2 UTSW 4 116,170,070 (GRCm39) missense probably damaging 1.00
R7843:Mast2 UTSW 4 116,210,208 (GRCm39) missense probably damaging 0.98
R7918:Mast2 UTSW 4 116,292,732 (GRCm39) missense possibly damaging 0.50
R7939:Mast2 UTSW 4 116,287,668 (GRCm39) missense probably benign 0.09
R8052:Mast2 UTSW 4 116,170,172 (GRCm39) missense probably damaging 0.99
R8115:Mast2 UTSW 4 116,292,644 (GRCm39) missense probably benign 0.01
R8312:Mast2 UTSW 4 116,287,683 (GRCm39) missense probably benign
R8398:Mast2 UTSW 4 116,165,946 (GRCm39) missense probably damaging 1.00
R8477:Mast2 UTSW 4 116,164,407 (GRCm39) missense probably benign 0.43
R8759:Mast2 UTSW 4 116,292,757 (GRCm39) missense possibly damaging 0.80
R8832:Mast2 UTSW 4 116,168,875 (GRCm39) critical splice donor site probably null
R9245:Mast2 UTSW 4 116,167,701 (GRCm39) missense probably damaging 1.00
R9261:Mast2 UTSW 4 116,165,900 (GRCm39) missense probably damaging 1.00
R9530:Mast2 UTSW 4 116,169,535 (GRCm39) missense probably damaging 1.00
R9642:Mast2 UTSW 4 116,170,966 (GRCm39) missense probably damaging 0.99
R9709:Mast2 UTSW 4 116,173,044 (GRCm39) missense probably damaging 1.00
R9745:Mast2 UTSW 4 116,167,815 (GRCm39) missense probably benign 0.00
R9746:Mast2 UTSW 4 116,168,927 (GRCm39) missense probably benign 0.01
R9752:Mast2 UTSW 4 116,179,508 (GRCm39) missense probably benign 0.06
X0003:Mast2 UTSW 4 116,164,844 (GRCm39) missense possibly damaging 0.94
Posted On 2013-04-17