Incidental Mutation 'R7843:Mast2'
ID |
606432 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mast2
|
Ensembl Gene |
ENSMUSG00000003810 |
Gene Name |
microtubule associated serine/threonine kinase 2 |
Synonyms |
MAST205, Mtssk |
MMRRC Submission |
045897-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7843 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
116163957-116321420 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 116210208 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 186
(T186K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102095
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003908]
[ENSMUST00000106484]
[ENSMUST00000106485]
[ENSMUST00000106486]
[ENSMUST00000123072]
[ENSMUST00000144281]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003908
AA Change: T125K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000003908 Gene: ENSMUSG00000003810 AA Change: T125K
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: T125K
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102093 Gene: ENSMUSG00000003810 AA Change: T125K
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: T186K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000102094 Gene: ENSMUSG00000003810 AA Change: T186K
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: T186K
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102095 Gene: ENSMUSG00000003810 AA Change: T186K
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 damaging
Transcript: ENSMUST00000123072
AA Change: T42K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000118340 Gene: ENSMUSG00000003810 AA Change: T42K
Domain | Start | End | E-Value | Type |
Pfam:DUF1908
|
58 |
203 |
2.9e-74 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144281
AA Change: T41K
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000122625 Gene: ENSMUSG00000003810 AA Change: T41K
Domain | Start | End | E-Value | Type |
Pfam:DUF1908
|
57 |
144 |
2.3e-38 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
T |
C |
17: 36,270,135 (GRCm39) |
D641G |
possibly damaging |
Het |
Adam1b |
A |
T |
5: 121,639,500 (GRCm39) |
I515N |
probably damaging |
Het |
Adamtsl5 |
A |
G |
10: 80,178,757 (GRCm39) |
V207A |
probably damaging |
Het |
Ampd3 |
A |
G |
7: 110,390,395 (GRCm39) |
I143V |
probably benign |
Het |
Ank3 |
A |
T |
10: 69,822,788 (GRCm39) |
T486S |
probably benign |
Het |
Bcl11a |
A |
G |
11: 24,114,831 (GRCm39) |
I725V |
probably benign |
Het |
Blmh |
A |
G |
11: 76,837,139 (GRCm39) |
N29D |
probably damaging |
Het |
C6 |
T |
A |
15: 4,837,886 (GRCm39) |
V832D |
|
Het |
Ccdc191 |
T |
A |
16: 43,779,699 (GRCm39) |
L777M |
probably damaging |
Het |
Ccdc74a |
C |
G |
16: 17,464,613 (GRCm39) |
H45Q |
|
Het |
Cenpe |
T |
A |
3: 134,938,720 (GRCm39) |
Y517* |
probably null |
Het |
Cep290 |
G |
T |
10: 100,352,050 (GRCm39) |
R752L |
possibly damaging |
Het |
Cers5 |
A |
T |
15: 99,670,212 (GRCm39) |
W17R |
unknown |
Het |
Chpf |
T |
C |
1: 75,454,931 (GRCm39) |
|
probably benign |
Het |
Chst5 |
C |
A |
8: 112,617,204 (GRCm39) |
A139S |
probably benign |
Het |
Cpn1 |
T |
A |
19: 43,974,597 (GRCm39) |
D44V |
probably benign |
Het |
Cstf1 |
T |
C |
2: 172,219,920 (GRCm39) |
Y344H |
probably damaging |
Het |
D7Ertd443e |
A |
C |
7: 133,950,824 (GRCm39) |
M283R |
possibly damaging |
Het |
Dclk1 |
T |
A |
3: 55,163,298 (GRCm39) |
V130D |
probably damaging |
Het |
Dscam |
C |
T |
16: 96,626,830 (GRCm39) |
V360M |
probably damaging |
Het |
Dvl2 |
A |
G |
11: 69,899,612 (GRCm39) |
N518S |
probably benign |
Het |
Eif2ak2 |
T |
A |
17: 79,176,203 (GRCm39) |
K231N |
probably benign |
Het |
Elovl4 |
T |
C |
9: 83,670,324 (GRCm39) |
R123G |
probably damaging |
Het |
Ern2 |
A |
G |
7: 121,772,931 (GRCm39) |
V562A |
probably damaging |
Het |
F13a1 |
A |
T |
13: 37,209,745 (GRCm39) |
N73K |
probably benign |
Het |
Gcc2 |
C |
A |
10: 58,103,843 (GRCm39) |
Q90K |
possibly damaging |
Het |
Gnpda1 |
A |
T |
18: 38,461,952 (GRCm39) |
S282T |
probably benign |
Het |
Gpatch1 |
G |
T |
7: 34,980,879 (GRCm39) |
H880Q |
unknown |
Het |
Haus6 |
T |
C |
4: 86,504,578 (GRCm39) |
D471G |
possibly damaging |
Het |
Hcfc1r1 |
G |
T |
17: 23,893,630 (GRCm39) |
E70* |
probably null |
Het |
Ighv1-54 |
A |
G |
12: 115,157,483 (GRCm39) |
W55R |
probably damaging |
Het |
Jam3 |
T |
C |
9: 27,017,712 (GRCm39) |
|
probably null |
Het |
Klhdc7a |
A |
T |
4: 139,694,155 (GRCm39) |
V264E |
possibly damaging |
Het |
Lrrc4c |
A |
T |
2: 97,460,558 (GRCm39) |
T395S |
probably benign |
Het |
Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
Meig1 |
T |
A |
2: 3,410,248 (GRCm39) |
K84M |
probably damaging |
Het |
Mep1b |
G |
T |
18: 21,228,110 (GRCm39) |
S571I |
probably damaging |
Het |
Muc2 |
T |
G |
7: 141,281,662 (GRCm39) |
V507G |
probably benign |
Het |
Nkx2-3 |
C |
A |
19: 43,603,321 (GRCm39) |
T309N |
probably benign |
Het |
Oaf |
G |
A |
9: 43,134,077 (GRCm39) |
R215C |
probably damaging |
Het |
Or1ad1 |
A |
T |
11: 50,875,845 (GRCm39) |
T106S |
probably benign |
Het |
Or5b109 |
A |
T |
19: 13,211,901 (GRCm39) |
N96Y |
possibly damaging |
Het |
Or8b1c |
T |
C |
9: 38,384,243 (GRCm39) |
S67P |
probably damaging |
Het |
Pla2r1 |
T |
G |
2: 60,277,819 (GRCm39) |
T835P |
possibly damaging |
Het |
Ppil6 |
C |
T |
10: 41,377,862 (GRCm39) |
T191I |
probably benign |
Het |
Rps6ka5 |
T |
C |
12: 100,519,408 (GRCm39) |
D735G |
possibly damaging |
Het |
Setx |
T |
A |
2: 29,063,581 (GRCm39) |
N2292K |
probably damaging |
Het |
Slc1a6 |
A |
T |
10: 78,632,094 (GRCm39) |
I307F |
probably damaging |
Het |
Slc5a3 |
T |
A |
16: 91,875,907 (GRCm39) |
W655R |
probably benign |
Het |
Slc9a1 |
T |
C |
4: 133,097,753 (GRCm39) |
|
probably benign |
Het |
Sptbn1 |
A |
G |
11: 30,104,320 (GRCm39) |
V128A |
probably damaging |
Het |
Tenm3 |
T |
A |
8: 48,682,146 (GRCm39) |
K2495* |
probably null |
Het |
Tnni3k |
T |
A |
3: 154,744,161 (GRCm39) |
T64S |
probably damaging |
Het |
Top1 |
T |
C |
2: 160,556,176 (GRCm39) |
V545A |
possibly damaging |
Het |
Trabd |
A |
G |
15: 88,966,157 (GRCm39) |
D38G |
possibly damaging |
Het |
Tsbp1 |
C |
T |
17: 34,668,798 (GRCm39) |
T176I |
possibly damaging |
Het |
Umad1 |
G |
A |
6: 8,401,140 (GRCm39) |
D70N |
unknown |
Het |
Usp36 |
T |
C |
11: 118,176,791 (GRCm39) |
E9G |
probably damaging |
Het |
Vmn2r53 |
A |
G |
7: 12,316,026 (GRCm39) |
S598P |
probably damaging |
Het |
Vmn2r60 |
A |
T |
7: 41,844,511 (GRCm39) |
T625S |
probably benign |
Het |
Vmn2r72 |
G |
A |
7: 85,398,838 (GRCm39) |
T505I |
probably benign |
Het |
Vwce |
T |
A |
19: 10,641,647 (GRCm39) |
I791K |
probably benign |
Het |
Wdr64 |
C |
A |
1: 175,639,668 (GRCm39) |
H1046N |
probably benign |
Het |
Zdhhc4 |
A |
T |
5: 143,306,031 (GRCm39) |
D232E |
probably damaging |
Het |
Zfp984 |
A |
T |
4: 147,842,165 (GRCm39) |
F51I |
probably damaging |
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 |
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 |
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'- TGGCCAAGGAAACATTCGC -3'
(R):5'- TTACTCCAAGGGACAGGGAC -3'
Sequencing Primer
(F):5'- AGGAAACATTCGCCAATTTATCC -3'
(R):5'- GACTGAATTATGAAGTCTTAAGTGGC -3'
|
Posted On |
2019-12-20 |