Incidental Mutation 'R2081:Mast2'
ID |
229466 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mast2
|
Ensembl Gene |
ENSMUSG00000003810 |
Gene Name |
microtubule associated serine/threonine kinase 2 |
Synonyms |
MAST205, Mtssk |
MMRRC Submission |
040086-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2081 (G1)
|
Quality Score |
166 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
116163957-116321420 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 116187671 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122625
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003908]
[ENSMUST00000106484]
[ENSMUST00000106485]
[ENSMUST00000106486]
[ENSMUST00000123072]
[ENSMUST00000144281]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000003908
|
SMART Domains |
Protein: ENSMUSP00000003908 Gene: ENSMUSG00000003810
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 null
Transcript: ENSMUST00000106484
|
SMART Domains |
Protein: ENSMUSP00000102093 Gene: ENSMUSG00000003810
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 null
Transcript: ENSMUST00000106485
|
SMART Domains |
Protein: ENSMUSP00000102094 Gene: ENSMUSG00000003810
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 null
Transcript: ENSMUST00000106486
|
SMART Domains |
Protein: ENSMUSP00000102095 Gene: ENSMUSG00000003810
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 null
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: ENSMUST00000128252
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134460
|
Predicted Effect |
probably null
Transcript: ENSMUST00000144281
|
SMART Domains |
Protein: ENSMUSP00000122625 Gene: ENSMUSG00000003810
Domain | Start | End | E-Value | Type |
Pfam:DUF1908
|
57 |
144 |
2.3e-38 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147262
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151347
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl6 |
A |
G |
11: 54,211,085 (GRCm39) |
T28A |
possibly damaging |
Het |
Actl11 |
G |
A |
9: 107,807,396 (GRCm39) |
G573D |
probably benign |
Het |
Adam39 |
T |
A |
8: 41,279,879 (GRCm39) |
*757K |
probably null |
Het |
Agpat4 |
T |
C |
17: 12,370,771 (GRCm39) |
I38T |
possibly damaging |
Het |
Ap3d1 |
A |
C |
10: 80,568,770 (GRCm39) |
I36S |
probably damaging |
Het |
Arhgap45 |
T |
C |
10: 79,863,508 (GRCm39) |
F784L |
probably damaging |
Het |
Atg5lrt |
T |
C |
10: 95,972,601 (GRCm39) |
I46T |
possibly damaging |
Het |
Atp10b |
T |
A |
11: 43,092,955 (GRCm39) |
I430N |
probably damaging |
Het |
Atrip |
T |
A |
9: 108,901,807 (GRCm39) |
|
probably null |
Het |
C2cd4b |
G |
T |
9: 67,667,859 (GRCm39) |
R285L |
probably damaging |
Het |
Camta1 |
T |
C |
4: 151,228,699 (GRCm39) |
E711G |
probably benign |
Het |
Clcn6 |
T |
C |
4: 148,095,525 (GRCm39) |
Y685C |
probably damaging |
Het |
Col18a1 |
T |
A |
10: 76,890,019 (GRCm39) |
D1447V |
probably damaging |
Het |
Crispld1 |
T |
A |
1: 17,832,403 (GRCm39) |
V463D |
probably damaging |
Het |
Crybg2 |
T |
G |
4: 133,816,131 (GRCm39) |
F1612V |
possibly damaging |
Het |
Dclk1 |
T |
C |
3: 55,429,346 (GRCm39) |
|
probably null |
Het |
Ddx46 |
G |
T |
13: 55,821,829 (GRCm39) |
V834L |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,852,045 (GRCm39) |
D1734G |
possibly damaging |
Het |
Dpep1 |
T |
C |
8: 123,926,117 (GRCm39) |
V152A |
probably damaging |
Het |
Ect2l |
T |
C |
10: 18,041,275 (GRCm39) |
E301G |
probably damaging |
Het |
Elf3 |
C |
T |
1: 135,184,814 (GRCm39) |
C124Y |
probably benign |
Het |
Eno2 |
A |
G |
6: 124,740,088 (GRCm39) |
V316A |
probably damaging |
Het |
Erap1 |
A |
G |
13: 74,823,426 (GRCm39) |
E820G |
possibly damaging |
Het |
Evpl |
A |
T |
11: 116,125,092 (GRCm39) |
H123Q |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,200,503 (GRCm39) |
Y857F |
possibly damaging |
Het |
Fbrsl1 |
T |
A |
5: 110,519,491 (GRCm39) |
|
probably null |
Het |
Fbxw7 |
A |
G |
3: 84,881,820 (GRCm39) |
D432G |
probably damaging |
Het |
Flt1 |
A |
T |
5: 147,576,232 (GRCm39) |
L592Q |
probably damaging |
Het |
Gm14496 |
T |
A |
2: 181,642,272 (GRCm39) |
C648S |
probably damaging |
Het |
Gm5150 |
A |
T |
3: 16,045,109 (GRCm39) |
S39T |
probably benign |
Het |
Gse1 |
C |
A |
8: 121,293,219 (GRCm39) |
P177Q |
probably damaging |
Het |
Heatr4 |
G |
A |
12: 84,027,096 (GRCm39) |
R54W |
probably damaging |
Het |
Hpgd |
C |
A |
8: 56,760,677 (GRCm39) |
Q125K |
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Mfsd11 |
A |
G |
11: 116,752,381 (GRCm39) |
T177A |
possibly damaging |
Het |
Mlx |
T |
C |
11: 100,978,257 (GRCm39) |
S36P |
probably benign |
Het |
Mlxipl |
T |
A |
5: 135,142,492 (GRCm39) |
V102D |
probably damaging |
Het |
Mms22l |
T |
C |
4: 24,536,150 (GRCm39) |
Y540H |
probably damaging |
Het |
Msc |
T |
C |
1: 14,825,941 (GRCm39) |
D11G |
probably benign |
Het |
Muc4 |
C |
G |
16: 32,574,020 (GRCm39) |
S699R |
probably benign |
Het |
Nckap1l |
T |
C |
15: 103,405,881 (GRCm39) |
S1106P |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,925,008 (GRCm39) |
E5703G |
possibly damaging |
Het |
Or2ag1 |
A |
G |
7: 106,313,405 (GRCm39) |
M161T |
probably benign |
Het |
Pabpn1 |
A |
G |
14: 55,133,115 (GRCm39) |
K38E |
probably damaging |
Het |
Padi3 |
A |
T |
4: 140,526,290 (GRCm39) |
L141Q |
probably damaging |
Het |
Pakap |
G |
A |
4: 57,855,927 (GRCm39) |
E419K |
possibly damaging |
Het |
Pde3b |
A |
G |
7: 114,122,657 (GRCm39) |
N742D |
probably benign |
Het |
Pex1 |
T |
A |
5: 3,674,132 (GRCm39) |
|
probably null |
Het |
Pkd2 |
T |
C |
5: 104,608,077 (GRCm39) |
V192A |
probably benign |
Het |
Ppp6r2 |
T |
A |
15: 89,166,332 (GRCm39) |
M750K |
probably benign |
Het |
Prdm15 |
A |
T |
16: 97,604,980 (GRCm39) |
Y783* |
probably null |
Het |
Prox2 |
T |
A |
12: 85,141,782 (GRCm39) |
Q140H |
probably damaging |
Het |
Psg27 |
A |
T |
7: 18,290,883 (GRCm39) |
I440K |
probably damaging |
Het |
Pzp |
A |
G |
6: 128,496,383 (GRCm39) |
M283T |
probably benign |
Het |
Sec23a |
G |
A |
12: 59,045,067 (GRCm39) |
Q192* |
probably null |
Het |
Sh2b1 |
A |
G |
7: 126,071,862 (GRCm39) |
S108P |
possibly damaging |
Het |
Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
Tkfc |
G |
A |
19: 10,574,742 (GRCm39) |
A166V |
probably damaging |
Het |
Tomm70a |
T |
C |
16: 56,961,121 (GRCm39) |
V358A |
probably damaging |
Het |
Trim47 |
A |
G |
11: 115,997,239 (GRCm39) |
F505S |
probably damaging |
Het |
Tti2 |
T |
C |
8: 31,641,337 (GRCm39) |
F154L |
possibly damaging |
Het |
Ubap2l |
C |
T |
3: 89,946,271 (GRCm39) |
G111D |
possibly damaging |
Het |
Usp9y |
A |
T |
Y: 1,381,277 (GRCm39) |
I848N |
possibly damaging |
Het |
Veph1 |
T |
C |
3: 65,968,523 (GRCm39) |
Y740C |
probably damaging |
Het |
Vmn2r114 |
T |
A |
17: 23,510,083 (GRCm39) |
H799L |
possibly damaging |
Het |
Wdr31 |
T |
A |
4: 62,374,180 (GRCm39) |
M270L |
probably benign |
Het |
Zfp26 |
A |
G |
9: 20,347,913 (GRCm39) |
S884P |
probably benign |
Het |
Zswim6 |
T |
A |
13: 107,909,930 (GRCm39) |
|
noncoding transcript |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGGACTGGATGGAGAACAATTATC -3'
(R):5'- TGAGAACTCATGCTAGACAGAC -3'
Sequencing Primer
(F):5'- ACAGTTTGATCCTCAGGCAG -3'
(R):5'- CATGCTAGACAGACAATATCTTGTG -3'
|
Posted On |
2014-09-17 |