Incidental Mutation 'R1447:Mast2'
ID |
160691 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mast2
|
Ensembl Gene |
ENSMUSG00000003810 |
Gene Name |
microtubule associated serine/threonine kinase 2 |
Synonyms |
MAST205, Mtssk |
MMRRC Submission |
039502-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1447 (G1)
|
Quality Score |
136 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
116163957-116321420 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 116169210 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 733
(M733I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102093
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003908]
[ENSMUST00000106484]
[ENSMUST00000106485]
[ENSMUST00000106486]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003908
AA Change: M726I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000003908 Gene: ENSMUSG00000003810 AA Change: M726I
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 benign
Transcript: ENSMUST00000106484
AA Change: M733I
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000102093 Gene: ENSMUSG00000003810 AA Change: M733I
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 benign
Transcript: ENSMUST00000106485
AA Change: M787I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000102094 Gene: ENSMUSG00000003810 AA Change: M787I
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: M794I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000102095 Gene: ENSMUSG00000003810 AA Change: M794I
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: ENSMUST00000156884
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147459
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 93.8%
- 20x: 84.2%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
A |
T |
15: 11,263,447 (GRCm39) |
D603V |
probably benign |
Het |
Ahnak |
A |
T |
19: 8,984,446 (GRCm39) |
E1910V |
probably damaging |
Het |
Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
Amotl1 |
A |
G |
9: 14,467,038 (GRCm39) |
V704A |
probably benign |
Het |
Ankrd50 |
A |
T |
3: 38,509,691 (GRCm39) |
V892E |
probably damaging |
Het |
Aoc1 |
G |
A |
6: 48,883,176 (GRCm39) |
V351I |
probably benign |
Het |
Atp6v1b1 |
T |
C |
6: 83,734,924 (GRCm39) |
V412A |
possibly damaging |
Het |
Atp8b2 |
A |
T |
3: 89,851,477 (GRCm39) |
I906N |
probably damaging |
Het |
Bltp1 |
T |
C |
3: 37,019,735 (GRCm39) |
L2048P |
probably damaging |
Het |
Bnc2 |
A |
G |
4: 84,211,457 (GRCm39) |
V304A |
probably benign |
Het |
Btaf1 |
A |
G |
19: 36,969,854 (GRCm39) |
D1176G |
probably benign |
Het |
C1qtnf3 |
G |
A |
15: 10,952,735 (GRCm39) |
G66R |
probably damaging |
Het |
Ccdc162 |
T |
C |
10: 41,456,243 (GRCm39) |
E360G |
probably damaging |
Het |
Csmd1 |
C |
A |
8: 15,975,306 (GRCm39) |
G2968* |
probably null |
Het |
Cyp2j7 |
A |
T |
4: 96,083,530 (GRCm39) |
F473L |
possibly damaging |
Het |
Ddx24 |
T |
C |
12: 103,390,566 (GRCm39) |
K142E |
possibly damaging |
Het |
Dnah1 |
A |
T |
14: 31,028,855 (GRCm39) |
M625K |
probably benign |
Het |
Dnah9 |
A |
T |
11: 65,999,308 (GRCm39) |
Y944N |
possibly damaging |
Het |
Eef1akmt1 |
T |
A |
14: 57,803,441 (GRCm39) |
K38* |
probably null |
Het |
Enpp2 |
C |
T |
15: 54,782,994 (GRCm39) |
|
probably null |
Het |
Eps8l1 |
A |
G |
7: 4,477,055 (GRCm39) |
E508G |
probably damaging |
Het |
Etaa1 |
A |
T |
11: 17,896,625 (GRCm39) |
D497E |
possibly damaging |
Het |
Fam181b |
C |
T |
7: 92,729,368 (GRCm39) |
A47V |
probably damaging |
Het |
Fubp3 |
T |
C |
2: 31,490,559 (GRCm39) |
V221A |
probably damaging |
Het |
Golga2 |
T |
C |
2: 32,187,788 (GRCm39) |
V191A |
possibly damaging |
Het |
Haus5 |
G |
T |
7: 30,361,216 (GRCm39) |
|
probably null |
Het |
Hydin |
T |
C |
8: 111,249,798 (GRCm39) |
L2247P |
probably damaging |
Het |
Lama5 |
A |
C |
2: 179,827,671 (GRCm39) |
I2197S |
probably damaging |
Het |
Mapre3 |
C |
T |
5: 31,019,151 (GRCm39) |
|
probably benign |
Het |
Mphosph10 |
A |
T |
7: 64,030,698 (GRCm39) |
F514I |
probably damaging |
Het |
Mterf3 |
A |
G |
13: 67,065,103 (GRCm39) |
L266P |
probably damaging |
Het |
Nup205 |
A |
G |
6: 35,192,120 (GRCm39) |
D1114G |
probably benign |
Het |
Or1ak2 |
T |
G |
2: 36,827,788 (GRCm39) |
V219G |
possibly damaging |
Het |
Or1e21 |
A |
G |
11: 73,344,700 (GRCm39) |
F113L |
probably benign |
Het |
Phf24 |
G |
T |
4: 42,938,232 (GRCm39) |
E119* |
probably null |
Het |
Pik3r5 |
G |
A |
11: 68,385,003 (GRCm39) |
R636Q |
probably benign |
Het |
Plaat3 |
G |
A |
19: 7,556,598 (GRCm39) |
R133H |
probably benign |
Het |
Rida |
T |
A |
15: 34,488,757 (GRCm39) |
Q45L |
possibly damaging |
Het |
Ros1 |
T |
C |
10: 51,974,954 (GRCm39) |
T1544A |
possibly damaging |
Het |
Rpl7 |
T |
A |
1: 16,172,821 (GRCm39) |
Y166F |
probably benign |
Het |
Rps6ka5 |
A |
G |
12: 100,544,084 (GRCm39) |
I338T |
probably benign |
Het |
Scn3a |
A |
T |
2: 65,300,324 (GRCm39) |
N1347K |
probably damaging |
Het |
Serpinb6d |
A |
G |
13: 33,854,739 (GRCm39) |
D238G |
probably benign |
Het |
Sh3rf2 |
T |
A |
18: 42,234,736 (GRCm39) |
I173N |
probably benign |
Het |
Smarcc2 |
T |
C |
10: 128,305,660 (GRCm39) |
|
probably null |
Het |
Thoc2l |
T |
C |
5: 104,670,070 (GRCm39) |
S1531P |
possibly damaging |
Het |
Thsd4 |
T |
C |
9: 59,904,496 (GRCm39) |
N567D |
probably benign |
Het |
Tmprss13 |
C |
A |
9: 45,239,878 (GRCm39) |
P62Q |
unknown |
Het |
Tmprss7 |
T |
C |
16: 45,501,033 (GRCm39) |
Q256R |
probably benign |
Het |
Tssc4 |
A |
G |
7: 142,623,892 (GRCm39) |
T67A |
probably benign |
Het |
Tssk5 |
G |
A |
15: 76,256,304 (GRCm39) |
Q372* |
probably null |
Het |
Usp47 |
G |
T |
7: 111,673,775 (GRCm39) |
|
probably null |
Het |
Utp15 |
A |
G |
13: 98,389,386 (GRCm39) |
I304T |
possibly damaging |
Het |
Vmn1r35 |
A |
C |
6: 66,655,890 (GRCm39) |
V93G |
probably benign |
Het |
Zfhx3 |
A |
C |
8: 109,675,076 (GRCm39) |
Q2042P |
probably benign |
Het |
Zfp532 |
C |
A |
18: 65,758,061 (GRCm39) |
R665S |
probably damaging |
Het |
Zfp976 |
G |
T |
7: 42,262,023 (GRCm39) |
P605T |
possibly damaging |
Het |
Zfpl1 |
A |
G |
19: 6,132,649 (GRCm39) |
V125A |
possibly 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 |
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 |
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'- CACACCTTGCTGAACCTTGGAGAG -3'
(R):5'- ACAGAGAGGCTACTTCCATGTACCC -3'
Sequencing Primer
(F):5'- ATCCTCAGAGTCCACATGGTG -3'
(R):5'- AAGTTCAATGGGAAGTCCCTC -3'
|
Posted On |
2014-03-14 |