Incidental Mutation 'R7303:Mast2'
ID |
567085 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mast2
|
Ensembl Gene |
ENSMUSG00000003810 |
Gene Name |
microtubule associated serine/threonine kinase 2 |
Synonyms |
MAST205, Mtssk |
MMRRC Submission |
045364-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7303 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
116163957-116321420 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116165508 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1303
(S1303P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102095
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003908]
[ENSMUST00000106484]
[ENSMUST00000106485]
[ENSMUST00000106486]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003908
AA Change: S1236P
PolyPhen 2
Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000003908 Gene: ENSMUSG00000003810 AA Change: S1236P
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 |
possibly damaging
Transcript: ENSMUST00000106484
AA Change: S1242P
PolyPhen 2
Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000102093 Gene: ENSMUSG00000003810 AA Change: S1242P
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 |
possibly damaging
Transcript: ENSMUST00000106485
AA Change: S1297P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000102094 Gene: ENSMUSG00000003810 AA Change: S1297P
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 |
possibly damaging
Transcript: ENSMUST00000106486
AA Change: S1303P
PolyPhen 2
Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000102095 Gene: ENSMUSG00000003810 AA Change: S1303P
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
G |
17: 24,617,495 (GRCm39) |
L1064R |
possibly damaging |
Het |
Abca7 |
A |
T |
10: 79,850,822 (GRCm39) |
D2051V |
probably benign |
Het |
Abcb5 |
T |
A |
12: 118,875,295 (GRCm39) |
I626F |
probably damaging |
Het |
Abcg5 |
A |
G |
17: 84,977,774 (GRCm39) |
S333P |
probably damaging |
Het |
Abl2 |
T |
C |
1: 156,468,820 (GRCm39) |
S695P |
probably benign |
Het |
Aen |
C |
T |
7: 78,552,204 (GRCm39) |
P55S |
possibly damaging |
Het |
Afg3l1 |
G |
T |
8: 124,228,008 (GRCm39) |
A598S |
probably damaging |
Het |
Aldh16a1 |
A |
T |
7: 44,797,328 (GRCm39) |
L160Q |
probably damaging |
Het |
Ang |
A |
T |
14: 51,338,973 (GRCm39) |
H38L |
probably benign |
Het |
Ankar |
A |
T |
1: 72,698,192 (GRCm39) |
I954N |
probably benign |
Het |
Aox1 |
A |
T |
1: 58,373,924 (GRCm39) |
K862* |
probably null |
Het |
Brme1 |
G |
C |
8: 84,887,862 (GRCm39) |
G71A |
probably benign |
Het |
Cad |
T |
C |
5: 31,217,557 (GRCm39) |
|
probably null |
Het |
Cc2d2b |
A |
T |
19: 40,797,438 (GRCm39) |
Y740F |
unknown |
Het |
Ccdc182 |
T |
C |
11: 88,185,042 (GRCm39) |
Y41H |
probably benign |
Het |
Chd9 |
A |
G |
8: 91,778,532 (GRCm39) |
R2848G |
unknown |
Het |
Chrna6 |
A |
T |
8: 27,897,019 (GRCm39) |
L286* |
probably null |
Het |
Cimap1d |
G |
A |
10: 79,478,525 (GRCm39) |
P80S |
probably benign |
Het |
Cracr2b |
A |
G |
7: 141,043,115 (GRCm39) |
|
probably benign |
Het |
Fam184b |
C |
T |
5: 45,699,568 (GRCm39) |
|
probably null |
Het |
Flnc |
T |
C |
6: 29,460,849 (GRCm39) |
S2647P |
probably benign |
Het |
Ftsj3 |
T |
C |
11: 106,145,506 (GRCm39) |
D76G |
probably damaging |
Het |
Fxyd1 |
T |
A |
7: 30,753,743 (GRCm39) |
M17L |
probably benign |
Het |
Golim4 |
G |
A |
3: 75,785,360 (GRCm39) |
S677L |
probably damaging |
Het |
Gpr149 |
A |
G |
3: 62,502,491 (GRCm39) |
V455A |
possibly damaging |
Het |
H2-Q1 |
C |
A |
17: 35,540,312 (GRCm39) |
S132R |
probably benign |
Het |
H2-Q7 |
A |
G |
17: 35,659,037 (GRCm39) |
I163V |
probably benign |
Het |
Herc1 |
A |
T |
9: 66,358,098 (GRCm39) |
D2393V |
possibly damaging |
Het |
Hmgb2 |
A |
G |
8: 57,965,762 (GRCm39) |
K44E |
possibly damaging |
Het |
Itgad |
A |
G |
7: 127,789,351 (GRCm39) |
D605G |
probably benign |
Het |
Kbtbd12 |
G |
T |
6: 88,591,094 (GRCm39) |
F16L |
unknown |
Het |
Klhl23 |
T |
C |
2: 69,655,045 (GRCm39) |
I305T |
probably benign |
Het |
Lrguk |
A |
T |
6: 34,006,411 (GRCm39) |
N7I |
probably benign |
Het |
Lrp5 |
A |
G |
19: 3,641,774 (GRCm39) |
L1396P |
probably damaging |
Het |
Mapkapk5 |
T |
C |
5: 121,678,637 (GRCm39) |
E13G |
probably benign |
Het |
Mark3 |
T |
C |
12: 111,621,970 (GRCm39) |
V704A |
probably damaging |
Het |
Mcm2 |
T |
C |
6: 88,864,928 (GRCm39) |
D516G |
probably damaging |
Het |
Mon2 |
A |
T |
10: 122,874,364 (GRCm39) |
|
probably null |
Het |
Mrc2 |
T |
A |
11: 105,216,629 (GRCm39) |
N139K |
probably damaging |
Het |
Myh14 |
C |
T |
7: 44,261,125 (GRCm39) |
E1789K |
probably damaging |
Het |
Myh7b |
T |
A |
2: 155,460,660 (GRCm39) |
L271Q |
probably damaging |
Het |
Oog2 |
A |
T |
4: 143,921,912 (GRCm39) |
H274L |
probably benign |
Het |
Oosp1 |
A |
C |
19: 11,645,774 (GRCm39) |
S121R |
probably benign |
Het |
Or13a28 |
T |
C |
7: 140,218,267 (GRCm39) |
S218P |
probably damaging |
Het |
Or8k3b |
A |
G |
2: 86,521,166 (GRCm39) |
V51A |
probably benign |
Het |
Pepd |
T |
C |
7: 34,721,197 (GRCm39) |
|
probably null |
Het |
Pik3c2a |
A |
C |
7: 116,005,178 (GRCm39) |
S363R |
probably benign |
Het |
Polr2b |
T |
C |
5: 77,468,868 (GRCm39) |
Y215H |
probably benign |
Het |
Ppcdc |
A |
T |
9: 57,321,958 (GRCm39) |
V194E |
probably benign |
Het |
Rabgap1l |
A |
C |
1: 160,509,667 (GRCm39) |
I470S |
probably benign |
Het |
Scgb1b3 |
G |
A |
7: 31,075,383 (GRCm39) |
A78T |
probably benign |
Het |
Slc9a5 |
T |
A |
8: 106,083,345 (GRCm39) |
L368Q |
probably damaging |
Het |
Spef2 |
T |
A |
15: 9,647,576 (GRCm39) |
I944F |
possibly damaging |
Het |
Syne1 |
T |
A |
10: 5,206,805 (GRCm39) |
H3461L |
probably benign |
Het |
Tas2r134 |
A |
G |
2: 51,518,145 (GRCm39) |
Y208C |
probably benign |
Het |
Tasor |
A |
G |
14: 27,193,809 (GRCm39) |
E1003G |
probably damaging |
Het |
Tm9sf3 |
G |
A |
19: 41,227,198 (GRCm39) |
S291F |
probably damaging |
Het |
Tra2a |
G |
A |
6: 49,227,921 (GRCm39) |
T69I |
unknown |
Het |
Ube2q1 |
T |
A |
3: 89,683,898 (GRCm39) |
L171Q |
possibly damaging |
Het |
Ufd1 |
A |
G |
16: 18,636,715 (GRCm39) |
T78A |
probably damaging |
Het |
Vmn1r13 |
T |
C |
6: 57,187,587 (GRCm39) |
S249P |
probably damaging |
Het |
Wdr91 |
G |
A |
6: 34,861,258 (GRCm39) |
S648L |
probably benign |
Het |
Zfp51 |
T |
A |
17: 21,684,058 (GRCm39) |
N224K |
probably benign |
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 |
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 |
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'- AAAGGACTGAGACCCATGGC -3'
(R):5'- TTAAGTGGACTGTAGTCACCAGTG -3'
Sequencing Primer
(F):5'- ACGCTGAGGTGAAGCTGC -3'
(R):5'- CTGTAGTCACCAGTGGTAAAAAGTG -3'
|
Posted On |
2019-06-26 |