Incidental Mutation 'R3411:Mast2'
| ID |
267707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mast2
|
| Ensembl Gene |
ENSMUSG00000003810 |
| Gene Name |
microtubule associated serine/threonine kinase 2 |
| Synonyms |
MAST205, Mtssk |
| MMRRC Submission |
040629-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3411 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
116163957-116321420 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 116168107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glutamine
at position 881
(E881Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003908
(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: E881Q
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000003908
Gene: ENSMUSG00000003810
AA Change: E881Q
| 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: E888Q
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102093
Gene: ENSMUSG00000003810
AA Change: E888Q
| 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: E942Q
PolyPhen 2
Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102094
Gene: ENSMUSG00000003810
AA Change: E942Q
| 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: E949Q
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000102095
Gene: ENSMUSG00000003810
AA Change: E949Q
| 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
|
| Meta Mutation Damage Score |
0.1034 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (62/62) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
A |
T |
12: 81,466,596 (GRCm39) |
V675D |
possibly damaging |
Het |
| Adamts16 |
T |
C |
13: 70,901,345 (GRCm39) |
T911A |
probably benign |
Het |
| Adgra1 |
T |
C |
7: 139,427,619 (GRCm39) |
F62S |
possibly damaging |
Het |
| Adgra3 |
A |
G |
5: 50,159,272 (GRCm39) |
V326A |
probably damaging |
Het |
| Aff1 |
T |
A |
5: 103,902,572 (GRCm39) |
M1K |
probably null |
Het |
| AI429214 |
C |
T |
8: 37,461,071 (GRCm39) |
S73L |
probably benign |
Het |
| Apc |
C |
A |
18: 34,402,312 (GRCm39) |
|
probably benign |
Het |
| Apcs |
T |
C |
1: 172,722,130 (GRCm39) |
Y72C |
probably damaging |
Het |
| Arid4a |
T |
C |
12: 71,108,299 (GRCm39) |
|
probably benign |
Het |
| Armcx4 |
C |
A |
X: 133,591,774 (GRCm39) |
Q561K |
probably benign |
Het |
| Atp5po |
C |
T |
16: 91,725,794 (GRCm39) |
R64H |
probably damaging |
Het |
| Bank1 |
G |
A |
3: 135,953,534 (GRCm39) |
|
probably benign |
Het |
| Ccdc150 |
A |
G |
1: 54,395,932 (GRCm39) |
D805G |
probably benign |
Het |
| Ccdc88a |
T |
A |
11: 29,436,006 (GRCm39) |
C10S |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 30,991,774 (GRCm39) |
M3076K |
possibly damaging |
Het |
| Dnpep |
A |
G |
1: 75,293,270 (GRCm39) |
V33A |
probably damaging |
Het |
| Egfem1 |
C |
T |
3: 29,637,170 (GRCm39) |
T202I |
probably damaging |
Het |
| Fam120b |
T |
A |
17: 15,651,897 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,881,416 (GRCm39) |
T1263A |
possibly damaging |
Het |
| Gm6802 |
C |
A |
12: 19,540,621 (GRCm39) |
|
noncoding transcript |
Het |
| Golga2 |
C |
A |
2: 32,192,954 (GRCm39) |
A424E |
probably damaging |
Het |
| Gpat2 |
G |
A |
2: 127,270,211 (GRCm39) |
V75M |
probably damaging |
Het |
| Grik5 |
T |
C |
7: 24,762,397 (GRCm39) |
D198G |
probably benign |
Het |
| Hcrtr2 |
A |
G |
9: 76,140,290 (GRCm39) |
F333L |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Htr1b |
A |
C |
9: 81,514,094 (GRCm39) |
V171G |
probably benign |
Het |
| Kalrn |
G |
T |
16: 34,032,642 (GRCm39) |
D1117E |
probably benign |
Het |
| Kcp |
T |
C |
6: 29,482,845 (GRCm39) |
N1408S |
possibly damaging |
Het |
| Klhl7 |
G |
T |
5: 24,343,319 (GRCm39) |
V212L |
probably damaging |
Het |
| Klra17 |
T |
A |
6: 129,851,809 (GRCm39) |
N21I |
probably damaging |
Het |
| Lrrc8d |
A |
T |
5: 105,974,572 (GRCm39) |
|
noncoding transcript |
Het |
| Mcm6 |
T |
C |
1: 128,279,322 (GRCm39) |
T155A |
probably benign |
Het |
| Mslnl |
T |
C |
17: 25,963,491 (GRCm39) |
F326L |
probably benign |
Het |
| Nlrp4c |
A |
G |
7: 6,095,569 (GRCm39) |
K816E |
possibly damaging |
Het |
| Or10g1 |
T |
A |
14: 52,647,818 (GRCm39) |
R170S |
possibly damaging |
Het |
| Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
| Or5p69 |
A |
T |
7: 107,967,551 (GRCm39) |
I285F |
possibly damaging |
Het |
| Or8k3 |
T |
C |
2: 86,058,986 (GRCm39) |
S110G |
probably benign |
Het |
| Otoa |
A |
G |
7: 120,721,266 (GRCm39) |
Q427R |
probably damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,468,945 (GRCm39) |
E622G |
probably damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,333,845 (GRCm39) |
Y59H |
probably damaging |
Het |
| Psmc3 |
A |
C |
2: 90,886,263 (GRCm39) |
D159A |
probably damaging |
Het |
| Ripk4 |
T |
C |
16: 97,545,157 (GRCm39) |
T497A |
probably benign |
Het |
| Rpn2 |
C |
A |
2: 157,132,572 (GRCm39) |
A108E |
possibly damaging |
Het |
| Serpina3n |
A |
G |
12: 104,377,536 (GRCm39) |
E263G |
possibly damaging |
Het |
| Six4 |
A |
G |
12: 73,159,657 (GRCm39) |
F101S |
probably damaging |
Het |
| Slc16a4 |
G |
A |
3: 107,208,188 (GRCm39) |
E233K |
probably benign |
Het |
| Smu1 |
T |
C |
4: 40,752,008 (GRCm39) |
T183A |
probably benign |
Het |
| Sptb |
T |
G |
12: 76,657,589 (GRCm39) |
K1311Q |
possibly damaging |
Het |
| Styxl1 |
T |
C |
5: 135,794,618 (GRCm39) |
Y83C |
probably damaging |
Het |
| Sypl2 |
C |
T |
3: 108,124,045 (GRCm39) |
V166I |
possibly damaging |
Het |
| Tal2 |
A |
G |
4: 53,785,843 (GRCm39) |
N8S |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,501,737 (GRCm39) |
Y1314H |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,772,749 (GRCm39) |
N2415K |
possibly damaging |
Het |
| Usp53 |
T |
C |
3: 122,743,507 (GRCm39) |
|
probably null |
Het |
| Vmn2r65 |
T |
C |
7: 84,595,896 (GRCm39) |
I263V |
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 |
|
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'- TACAGCTAAGCCTCTCCCTG -3'
(R):5'- TCTGTGACTAATAGCCTCAGCAG -3'
Sequencing Primer
(F):5'- GTAGTATATCCCAGCCTATGCC -3'
(R):5'- CAGAGGCTGGAAAGGGAGAC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation