Incidental Mutation 'IGL02112:Mast2'
ID |
280196 |
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)
|
Stock # |
IGL02112
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
116163957-116321420 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 116176961 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 437
(C437S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102095
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003908]
[ENSMUST00000106484]
[ENSMUST00000106485]
[ENSMUST00000106486]
[ENSMUST00000123072]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003908
AA Change: C369S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000003908 Gene: ENSMUSG00000003810 AA Change: C369S
Domain | Start | End | E-Value | Type |
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 |
probably damaging
Transcript: ENSMUST00000106484
AA Change: C376S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102093 Gene: ENSMUSG00000003810 AA Change: C376S
Domain | Start | End | E-Value | Type |
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 |
probably damaging
Transcript: ENSMUST00000106485
AA Change: C430S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102094 Gene: ENSMUSG00000003810 AA Change: C430S
Domain | Start | End | E-Value | Type |
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 |
probably damaging
Transcript: ENSMUST00000106486
AA Change: C437S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102095 Gene: ENSMUSG00000003810 AA Change: C437S
Domain | Start | End | E-Value | Type |
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 |
probably benign
Transcript: ENSMUST00000123072
|
SMART Domains |
Protein: ENSMUSP00000118340 Gene: ENSMUSG00000003810
Domain | Start | End | E-Value | Type |
Pfam:DUF1908
|
58 |
203 |
2.9e-74 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123761
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128252
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147262
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156884
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
A |
8: 44,104,175 (GRCm39) |
Y490F |
possibly damaging |
Het |
Appbp2 |
A |
T |
11: 85,092,446 (GRCm39) |
H271Q |
probably benign |
Het |
Arhgap17 |
A |
T |
7: 122,917,640 (GRCm39) |
D181E |
possibly damaging |
Het |
Arhgap25 |
T |
A |
6: 87,444,919 (GRCm39) |
Y286F |
possibly damaging |
Het |
Atf2 |
T |
C |
2: 73,649,381 (GRCm39) |
K352R |
probably damaging |
Het |
Bdp1 |
G |
A |
13: 100,174,308 (GRCm39) |
T2076I |
probably benign |
Het |
C1s2 |
A |
G |
6: 124,602,267 (GRCm39) |
V642A |
probably benign |
Het |
Cldn18 |
T |
A |
9: 99,580,128 (GRCm39) |
T170S |
probably benign |
Het |
Cntnap5c |
T |
A |
17: 58,620,853 (GRCm39) |
H977Q |
probably benign |
Het |
Col15a1 |
T |
A |
4: 47,253,985 (GRCm39) |
|
probably benign |
Het |
Csmd1 |
A |
T |
8: 16,131,719 (GRCm39) |
Y1669N |
probably benign |
Het |
Csmd3 |
A |
C |
15: 48,177,265 (GRCm39) |
S424R |
possibly damaging |
Het |
Cyp4a31 |
A |
G |
4: 115,428,180 (GRCm39) |
D306G |
probably damaging |
Het |
E2f2 |
A |
G |
4: 135,920,145 (GRCm39) |
T377A |
probably benign |
Het |
Edil3 |
A |
G |
13: 89,328,374 (GRCm39) |
D276G |
probably damaging |
Het |
Ei24 |
A |
T |
9: 36,693,638 (GRCm39) |
Y305N |
probably damaging |
Het |
Erbin |
T |
C |
13: 103,998,844 (GRCm39) |
N181D |
probably benign |
Het |
Gli3 |
A |
G |
13: 15,837,099 (GRCm39) |
Q494R |
probably damaging |
Het |
Gm16519 |
T |
C |
17: 71,236,291 (GRCm39) |
I80T |
probably damaging |
Het |
Haus8 |
T |
A |
8: 71,708,205 (GRCm39) |
E163V |
probably damaging |
Het |
Hephl1 |
G |
T |
9: 14,993,111 (GRCm39) |
|
probably benign |
Het |
Hnrnph3 |
A |
G |
10: 62,852,184 (GRCm39) |
|
probably null |
Het |
Liat1 |
G |
T |
11: 75,894,214 (GRCm39) |
C197F |
probably benign |
Het |
Mef2a |
A |
C |
7: 66,914,620 (GRCm39) |
S91R |
probably damaging |
Het |
Mfge8 |
A |
T |
7: 78,793,088 (GRCm39) |
V126D |
probably benign |
Het |
Nrdc |
A |
G |
4: 108,884,629 (GRCm39) |
|
probably benign |
Het |
Or7d10 |
T |
A |
9: 19,831,821 (GRCm39) |
N105K |
possibly damaging |
Het |
Panx2 |
A |
G |
15: 88,953,772 (GRCm39) |
T576A |
probably benign |
Het |
Per3 |
T |
C |
4: 151,113,640 (GRCm39) |
Y306C |
probably benign |
Het |
Ppm1h |
G |
A |
10: 122,638,305 (GRCm39) |
G192R |
possibly damaging |
Het |
Prss22 |
T |
C |
17: 24,212,945 (GRCm39) |
E264G |
probably damaging |
Het |
Rasa3 |
A |
G |
8: 13,635,042 (GRCm39) |
|
probably benign |
Het |
Rpl7a-ps8 |
C |
A |
7: 19,687,985 (GRCm39) |
|
probably benign |
Het |
Rundc1 |
A |
G |
11: 101,324,425 (GRCm39) |
D377G |
probably benign |
Het |
Sh3bp1 |
T |
C |
15: 78,790,084 (GRCm39) |
|
probably null |
Het |
Sobp |
A |
G |
10: 42,897,873 (GRCm39) |
S571P |
probably benign |
Het |
Styxl2 |
C |
A |
1: 165,927,240 (GRCm39) |
E791* |
probably null |
Het |
Syce1 |
C |
A |
7: 140,359,545 (GRCm39) |
M114I |
probably benign |
Het |
Tdrd6 |
G |
A |
17: 43,940,242 (GRCm39) |
R269W |
probably damaging |
Het |
Tmprss13 |
T |
C |
9: 45,250,702 (GRCm39) |
S408P |
probably damaging |
Het |
Tonsl |
T |
C |
15: 76,517,602 (GRCm39) |
T706A |
probably benign |
Het |
Tpcn2 |
A |
G |
7: 144,810,529 (GRCm39) |
S603P |
probably benign |
Het |
Trmt12 |
A |
T |
15: 58,744,665 (GRCm39) |
Q21L |
probably damaging |
Het |
Vmn1r68 |
C |
T |
7: 10,261,787 (GRCm39) |
G104S |
probably damaging |
Het |
Vmn2r82 |
T |
C |
10: 79,231,833 (GRCm39) |
W611R |
probably benign |
Het |
Vmn2r90 |
C |
A |
17: 17,932,465 (GRCm39) |
T124K |
probably damaging |
Het |
Vmn2r99 |
A |
G |
17: 19,600,494 (GRCm39) |
E506G |
probably null |
Het |
|
Other mutations in Mast2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00515:Mast2
|
APN |
4 |
116,168,526 (GRCm39) |
missense |
probably benign |
0.39 |
IGL00916:Mast2
|
APN |
4 |
116,184,830 (GRCm39) |
missense |
possibly damaging |
0.88 |
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 |
2015-04-16 |