Incidental Mutation 'R4671:Mast2'
ID |
348414 |
Institutional Source |
Beutler Lab
|
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 # |
R4671 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
116163957-116321420 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116165847 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1287
(S1287P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102094
(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: S1226P
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000003908 Gene: ENSMUSG00000003810 AA Change: S1226P
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: S1233P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000102093 Gene: ENSMUSG00000003810 AA Change: S1233P
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: S1287P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102094 Gene: ENSMUSG00000003810 AA Change: S1287P
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 benign
Transcript: ENSMUST00000106486
AA Change: S1294P
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000102095 Gene: ENSMUSG00000003810 AA Change: S1294P
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 |
noncoding transcript
Transcript: ENSMUST00000123761
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128713
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131809
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147459
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156884
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
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 |
Abcc2 |
T |
C |
19: 43,789,157 (GRCm39) |
S271P |
probably benign |
Het |
Acod1 |
T |
G |
14: 103,284,508 (GRCm39) |
M2R |
probably benign |
Het |
Adamts20 |
T |
C |
15: 94,301,206 (GRCm39) |
E106G |
possibly damaging |
Het |
Adgra3 |
G |
A |
5: 50,136,710 (GRCm39) |
T661M |
probably damaging |
Het |
Akap13 |
T |
A |
7: 75,229,312 (GRCm39) |
C161* |
probably null |
Het |
Akr1c12 |
A |
C |
13: 4,323,816 (GRCm39) |
S162A |
possibly damaging |
Het |
Anks1 |
C |
A |
17: 28,270,552 (GRCm39) |
H805N |
probably benign |
Het |
Arhgap22 |
T |
C |
14: 33,084,500 (GRCm39) |
C260R |
probably damaging |
Het |
Banf1 |
T |
C |
19: 5,415,872 (GRCm39) |
R33G |
probably benign |
Het |
Bcas1 |
T |
C |
2: 170,226,245 (GRCm39) |
K310R |
probably damaging |
Het |
Cacna1c |
G |
T |
6: 118,629,019 (GRCm39) |
H1240N |
probably damaging |
Het |
Cartpt |
C |
T |
13: 100,036,588 (GRCm39) |
|
probably null |
Het |
Ccdc127 |
T |
A |
13: 74,505,164 (GRCm39) |
Y237* |
probably null |
Het |
Ccnb1ip1 |
A |
T |
14: 51,029,734 (GRCm39) |
Y109* |
probably null |
Het |
Cenpj |
A |
T |
14: 56,790,840 (GRCm39) |
V403E |
possibly damaging |
Het |
Cps1 |
A |
G |
1: 67,235,719 (GRCm39) |
Y951C |
probably damaging |
Het |
Dcakd |
T |
C |
11: 102,890,634 (GRCm39) |
E51G |
possibly damaging |
Het |
Dennd4a |
A |
T |
9: 64,801,689 (GRCm39) |
N944I |
probably benign |
Het |
Dus3l |
C |
T |
17: 57,075,566 (GRCm39) |
R430C |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,169,640 (GRCm39) |
L279P |
possibly damaging |
Het |
Dzip3 |
G |
A |
16: 48,799,953 (GRCm39) |
Q112* |
probably null |
Het |
Eif1ad |
T |
A |
19: 5,418,219 (GRCm39) |
M1K |
probably null |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fancg |
T |
C |
4: 43,005,272 (GRCm39) |
E366G |
probably benign |
Het |
Gin1 |
C |
T |
1: 97,712,565 (GRCm39) |
P154S |
probably damaging |
Het |
Gm11938 |
A |
T |
11: 99,493,832 (GRCm39) |
C88S |
possibly damaging |
Het |
Gpr183 |
T |
C |
14: 122,192,149 (GRCm39) |
D124G |
probably damaging |
Het |
Gucy2g |
T |
A |
19: 55,226,500 (GRCm39) |
I139F |
probably damaging |
Het |
Iqub |
A |
T |
6: 24,479,183 (GRCm39) |
M453K |
probably benign |
Het |
Jcad |
A |
G |
18: 4,674,175 (GRCm39) |
T646A |
probably benign |
Het |
Kif23 |
A |
T |
9: 61,852,641 (GRCm39) |
D24E |
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,571,175 (GRCm39) |
N845S |
probably damaging |
Het |
Lhx5 |
G |
A |
5: 120,578,032 (GRCm39) |
S284N |
probably benign |
Het |
Lipf |
T |
G |
19: 33,954,076 (GRCm39) |
V389G |
possibly damaging |
Het |
Lrrc7 |
C |
T |
3: 157,908,132 (GRCm39) |
|
probably null |
Het |
Magi1 |
A |
G |
6: 93,657,768 (GRCm39) |
|
probably null |
Het |
Mepce |
C |
T |
5: 137,784,905 (GRCm39) |
|
probably benign |
Het |
Mkrn1 |
A |
G |
6: 39,382,691 (GRCm39) |
V173A |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
Naip6 |
A |
G |
13: 100,431,239 (GRCm39) |
|
probably null |
Het |
Nsmce3 |
A |
T |
7: 64,522,530 (GRCm39) |
L46Q |
probably benign |
Het |
Or1n2 |
G |
A |
2: 36,797,405 (GRCm39) |
C149Y |
probably benign |
Het |
Or2j6 |
T |
G |
7: 139,980,218 (GRCm39) |
Y247S |
probably damaging |
Het |
Or4k44 |
A |
T |
2: 111,368,280 (GRCm39) |
M118K |
probably damaging |
Het |
Or51e2 |
A |
G |
7: 102,391,808 (GRCm39) |
V134A |
probably damaging |
Het |
Or56a3b |
T |
C |
7: 104,771,513 (GRCm39) |
L283P |
probably damaging |
Het |
Parp14 |
A |
G |
16: 35,678,691 (GRCm39) |
F426L |
probably benign |
Het |
Pcf11 |
A |
T |
7: 92,306,737 (GRCm39) |
S1144T |
possibly damaging |
Het |
Prpf3 |
T |
A |
3: 95,758,976 (GRCm39) |
T59S |
possibly damaging |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Ptk7 |
A |
G |
17: 46,885,392 (GRCm39) |
V678A |
probably benign |
Het |
Rb1 |
A |
G |
14: 73,511,116 (GRCm39) |
L331S |
probably damaging |
Het |
Relch |
A |
G |
1: 105,646,584 (GRCm39) |
I637V |
probably benign |
Het |
Sell |
A |
G |
1: 163,893,042 (GRCm39) |
Y86C |
probably damaging |
Het |
Serpina1e |
G |
A |
12: 103,914,341 (GRCm39) |
R328W |
probably damaging |
Het |
Sertad3 |
T |
G |
7: 27,176,091 (GRCm39) |
L175R |
possibly damaging |
Het |
Stard9 |
G |
T |
2: 120,529,121 (GRCm39) |
G1793W |
probably damaging |
Het |
Stra6 |
T |
C |
9: 58,056,517 (GRCm39) |
I383T |
probably benign |
Het |
Tcf7l1 |
A |
G |
6: 72,626,161 (GRCm39) |
L154P |
probably damaging |
Het |
Tent5c |
C |
A |
3: 100,380,515 (GRCm39) |
L80F |
probably benign |
Het |
Tonsl |
A |
T |
15: 76,507,610 (GRCm39) |
D55E |
probably benign |
Het |
Ttc21b |
A |
G |
2: 66,057,257 (GRCm39) |
S572P |
possibly damaging |
Het |
Ttc7 |
T |
A |
17: 87,654,048 (GRCm39) |
L575Q |
probably damaging |
Het |
Ubl4b |
C |
T |
3: 107,462,194 (GRCm39) |
S22N |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,163,502 (GRCm39) |
V2634A |
possibly damaging |
Het |
Zbed6 |
A |
G |
1: 133,584,778 (GRCm39) |
V853A |
probably benign |
Het |
Zfp46 |
A |
C |
4: 136,017,484 (GRCm39) |
D106A |
probably damaging |
Het |
Zfp951 |
A |
C |
5: 104,962,567 (GRCm39) |
I333S |
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 |
|
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'- AGAATGCCCCAAGACTGCTG -3'
(R):5'- GAAGCTCCCTATTCCGGAAAATC -3'
Sequencing Primer
(F):5'- ACTGGTGACTACAGTCCACTTAATC -3'
(R):5'- TCACAAAGCAGGCCTCCTTG -3'
|
Posted On |
2015-10-08 |