Incidental Mutation 'R7822:Mast2'
ID |
601921 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mast2
|
Ensembl Gene |
ENSMUSG00000003810 |
Gene Name |
microtubule associated serine/threonine kinase 2 |
Synonyms |
MAST205, Mtssk |
MMRRC Submission |
045876-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7822 (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 116170070 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 741
(L741P)
|
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 |
probably damaging
Transcript: ENSMUST00000003908
AA Change: L673P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000003908 Gene: ENSMUSG00000003810 AA Change: L673P
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: L680P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102093 Gene: ENSMUSG00000003810 AA Change: L680P
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: L734P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102094 Gene: ENSMUSG00000003810 AA Change: L734P
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: L741P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102095 Gene: ENSMUSG00000003810 AA Change: L741P
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap21 |
G |
A |
2: 20,885,524 (GRCm39) |
S551L |
possibly damaging |
Het |
Ash1l |
T |
C |
3: 88,914,571 (GRCm39) |
S1734P |
probably benign |
Het |
Btnl2 |
T |
A |
17: 34,582,288 (GRCm39) |
S285T |
possibly damaging |
Het |
Cadm4 |
A |
G |
7: 24,202,970 (GRCm39) |
D364G |
possibly damaging |
Het |
Card6 |
T |
A |
15: 5,128,347 (GRCm39) |
K1016N |
possibly damaging |
Het |
Cdh2 |
G |
T |
18: 16,757,341 (GRCm39) |
N692K |
probably benign |
Het |
Cep76 |
G |
T |
18: 67,774,219 (GRCm39) |
S9* |
probably null |
Het |
Cklf |
T |
C |
8: 104,977,729 (GRCm39) |
|
probably null |
Het |
Ctsa |
T |
C |
2: 164,681,152 (GRCm39) |
*475R |
probably null |
Het |
Dapk1 |
A |
C |
13: 60,873,715 (GRCm39) |
D406A |
probably benign |
Het |
Ddx4 |
A |
T |
13: 112,748,647 (GRCm39) |
V443D |
probably damaging |
Het |
Dph5 |
C |
T |
3: 115,693,399 (GRCm39) |
Q106* |
probably null |
Het |
Drg2 |
C |
T |
11: 60,353,026 (GRCm39) |
R220* |
probably null |
Het |
Efcab8 |
A |
T |
2: 153,652,832 (GRCm39) |
Q509L |
unknown |
Het |
Efs |
C |
T |
14: 55,154,907 (GRCm39) |
S444N |
probably benign |
Het |
Evl |
T |
C |
12: 108,614,723 (GRCm39) |
V58A |
probably damaging |
Het |
Garin3 |
A |
G |
11: 46,295,730 (GRCm39) |
N34S |
|
Het |
Gbe1 |
G |
A |
16: 70,230,500 (GRCm39) |
R166H |
probably damaging |
Het |
Gcc1 |
T |
C |
6: 28,418,785 (GRCm39) |
E516G |
probably damaging |
Het |
Ghr |
T |
C |
15: 3,487,439 (GRCm39) |
T15A |
probably benign |
Het |
Gnb4 |
G |
A |
3: 32,650,480 (GRCm39) |
T50M |
probably damaging |
Het |
Grik3 |
T |
C |
4: 125,550,190 (GRCm39) |
|
probably null |
Het |
Gstk1 |
T |
C |
6: 42,224,686 (GRCm39) |
Y135H |
probably benign |
Het |
Gucy2c |
T |
A |
6: 136,685,404 (GRCm39) |
I846F |
probably damaging |
Het |
Itga7 |
A |
G |
10: 128,778,835 (GRCm39) |
T321A |
probably benign |
Het |
Jakmip1 |
A |
T |
5: 37,332,524 (GRCm39) |
N1068I |
probably damaging |
Het |
Krt36 |
A |
G |
11: 99,994,966 (GRCm39) |
I202T |
possibly damaging |
Het |
Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
Mctp2 |
T |
C |
7: 71,776,935 (GRCm39) |
N720S |
possibly damaging |
Het |
Mmp9 |
A |
T |
2: 164,790,956 (GRCm39) |
K115* |
probably null |
Het |
Mtf2 |
C |
T |
5: 108,228,743 (GRCm39) |
R20* |
probably null |
Het |
Mycbp2 |
T |
G |
14: 103,376,851 (GRCm39) |
Q3810P |
probably benign |
Het |
Myom2 |
A |
T |
8: 15,158,454 (GRCm39) |
H802L |
probably benign |
Het |
Naa25 |
A |
G |
5: 121,545,276 (GRCm39) |
N27D |
probably damaging |
Het |
Necab2 |
T |
C |
8: 120,181,103 (GRCm39) |
F126L |
probably damaging |
Het |
Nisch |
C |
G |
14: 30,896,608 (GRCm39) |
|
probably benign |
Het |
Nsd2 |
T |
A |
5: 34,000,938 (GRCm39) |
S152T |
probably damaging |
Het |
Ntsr1 |
T |
C |
2: 180,180,483 (GRCm39) |
L263P |
probably damaging |
Het |
Nup210 |
A |
G |
6: 90,995,759 (GRCm39) |
V922A |
possibly damaging |
Het |
Or12d17 |
T |
A |
17: 37,777,994 (GRCm39) |
M299K |
probably benign |
Het |
Or5b105 |
T |
A |
19: 13,080,417 (GRCm39) |
I84F |
probably benign |
Het |
Or5d45 |
A |
C |
2: 88,153,425 (GRCm39) |
I208S |
probably benign |
Het |
Pccb |
C |
A |
9: 100,909,137 (GRCm39) |
C144F |
probably damaging |
Het |
Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
Prdm1 |
A |
G |
10: 44,334,478 (GRCm39) |
V16A |
probably benign |
Het |
Prr5 |
A |
C |
15: 84,649,933 (GRCm39) |
Y219S |
probably damaging |
Het |
Psme4 |
A |
G |
11: 30,824,245 (GRCm39) |
D1743G |
probably benign |
Het |
Rad21l |
G |
T |
2: 151,497,045 (GRCm39) |
D356E |
probably benign |
Het |
Rars1 |
A |
G |
11: 35,710,793 (GRCm39) |
I322T |
probably damaging |
Het |
Retreg2 |
C |
A |
1: 75,123,185 (GRCm39) |
P319Q |
possibly damaging |
Het |
Robo2 |
T |
C |
16: 73,770,059 (GRCm39) |
Y559C |
probably damaging |
Het |
Ror1 |
T |
C |
4: 100,298,564 (GRCm39) |
Y646H |
probably damaging |
Het |
Rrp15 |
A |
G |
1: 186,481,373 (GRCm39) |
S45P |
probably benign |
Het |
Sacs |
G |
C |
14: 61,429,652 (GRCm39) |
K570N |
probably benign |
Het |
Serpinb8 |
C |
T |
1: 107,534,723 (GRCm39) |
Q265* |
probably null |
Het |
Sgo2b |
T |
C |
8: 64,380,318 (GRCm39) |
E838G |
probably damaging |
Het |
Slc2a12 |
G |
A |
10: 22,540,568 (GRCm39) |
R141K |
probably damaging |
Het |
Strc |
G |
T |
2: 121,208,219 (GRCm39) |
T384N |
probably benign |
Het |
Tcaf2 |
T |
C |
6: 42,606,033 (GRCm39) |
S547G |
possibly damaging |
Het |
Tekt5 |
T |
C |
16: 10,200,792 (GRCm39) |
N243S |
possibly damaging |
Het |
Tgm3 |
A |
G |
2: 129,883,819 (GRCm39) |
I492M |
probably benign |
Het |
Tgm7 |
G |
A |
2: 120,934,421 (GRCm39) |
T157I |
probably benign |
Het |
Trnp1 |
C |
A |
4: 133,225,350 (GRCm39) |
R140L |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,609,777 (GRCm39) |
V15797A |
probably damaging |
Het |
Ugp2 |
A |
T |
11: 21,283,762 (GRCm39) |
S102T |
probably benign |
Het |
Vav2 |
A |
T |
2: 27,172,299 (GRCm39) |
|
probably null |
Het |
Vmn1r202 |
T |
A |
13: 22,686,241 (GRCm39) |
I59F |
probably damaging |
Het |
Yju2b |
T |
C |
8: 84,988,411 (GRCm39) |
E72G |
probably damaging |
Het |
Zfp109 |
T |
C |
7: 23,928,570 (GRCm39) |
T288A |
probably benign |
Het |
Zscan12 |
T |
A |
13: 21,553,374 (GRCm39) |
H399Q |
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 |
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'- ATCGACACAAGAGCGACATG -3'
(R):5'- TAGGAACATCCCCTACTGCC -3'
Sequencing Primer
(F):5'- AGAGCGACATGAACACACAG -3'
(R):5'- AAGCTGCCTCCGGATTCTGAG -3'
|
Posted On |
2019-12-03 |