Incidental Mutation 'R6527:Mast2'
| ID |
521946 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mast2
|
| Ensembl Gene |
ENSMUSG00000003810 |
| Gene Name |
microtubule associated serine/threonine kinase 2 |
| Synonyms |
MAST205, Mtssk |
| MMRRC Submission |
044653-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6527 (G1)
|
| Quality Score |
210.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
116163957-116321420 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116172136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 604
(D604G)
|
| 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: D536G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000003908
Gene: ENSMUSG00000003810
AA Change: D536G
| 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: D543G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102093
Gene: ENSMUSG00000003810
AA Change: D543G
| 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: D597G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102094
Gene: ENSMUSG00000003810
AA Change: D597G
| 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: D604G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102095
Gene: ENSMUSG00000003810
AA Change: D604G
| 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: ENSMUST00000128252
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131809
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147459
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156884
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147262
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,773,288 (GRCm39) |
T826A |
probably damaging |
Het |
| Abca16 |
T |
A |
7: 120,076,995 (GRCm39) |
I686N |
possibly damaging |
Het |
| Abcb6 |
T |
C |
1: 75,154,132 (GRCm39) |
|
probably null |
Het |
| Adgrl3 |
A |
C |
5: 81,935,364 (GRCm39) |
E1299A |
probably damaging |
Het |
| Amd2 |
A |
C |
10: 35,586,802 (GRCm39) |
Y252D |
probably damaging |
Het |
| Cfap74 |
A |
G |
4: 155,506,722 (GRCm39) |
|
probably null |
Het |
| Dhx29 |
G |
T |
13: 113,069,076 (GRCm39) |
K135N |
probably damaging |
Het |
| Dlg5 |
T |
A |
14: 24,240,516 (GRCm39) |
D245V |
possibly damaging |
Het |
| Dscaml1 |
C |
T |
9: 45,623,482 (GRCm39) |
Q83* |
probably null |
Het |
| Dsp |
T |
A |
13: 38,379,849 (GRCm39) |
L1599Q |
probably damaging |
Het |
| Duox2 |
A |
G |
2: 122,125,095 (GRCm39) |
V369A |
probably benign |
Het |
| Flacc1 |
T |
C |
1: 58,731,572 (GRCm39) |
M1V |
probably null |
Het |
| Gbe1 |
T |
A |
16: 70,230,560 (GRCm39) |
|
probably null |
Het |
| Gm7298 |
A |
G |
6: 121,746,669 (GRCm39) |
K600R |
probably benign |
Het |
| Heatr4 |
C |
T |
12: 84,026,537 (GRCm39) |
G240E |
probably damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,689,589 (GRCm39) |
V651A |
possibly damaging |
Het |
| Jam3 |
C |
T |
9: 27,066,640 (GRCm39) |
R8Q |
unknown |
Het |
| Letm2 |
A |
G |
8: 26,082,522 (GRCm39) |
|
probably benign |
Het |
| Lmod3 |
T |
C |
6: 97,224,339 (GRCm39) |
D494G |
probably benign |
Het |
| Mif4gd |
C |
T |
11: 115,500,101 (GRCm39) |
|
probably null |
Het |
| Msr1 |
T |
C |
8: 40,077,274 (GRCm39) |
E112G |
possibly damaging |
Het |
| Mtus2 |
A |
G |
5: 148,214,408 (GRCm39) |
|
probably null |
Het |
| Muc4 |
A |
G |
16: 32,753,433 (GRCm38) |
H1103R |
probably benign |
Het |
| Nudt14 |
T |
A |
12: 112,898,507 (GRCm39) |
I198F |
possibly damaging |
Het |
| Or11j4 |
T |
A |
14: 50,630,885 (GRCm39) |
L224* |
probably null |
Het |
| Or13p3 |
T |
A |
4: 118,567,045 (GRCm39) |
F147Y |
possibly damaging |
Het |
| Or1n1b |
T |
C |
2: 36,780,594 (GRCm39) |
T89A |
probably benign |
Het |
| Osbpl8 |
T |
C |
10: 111,129,066 (GRCm39) |
I884T |
probably benign |
Het |
| Podxl2 |
T |
C |
6: 88,819,912 (GRCm39) |
N550S |
probably damaging |
Het |
| Ppp1r9a |
A |
G |
6: 5,045,949 (GRCm39) |
Y151C |
probably damaging |
Het |
| Prss42 |
T |
C |
9: 110,629,924 (GRCm39) |
V226A |
possibly damaging |
Het |
| Psmd12 |
A |
G |
11: 107,379,794 (GRCm39) |
I116V |
probably damaging |
Het |
| Psme4 |
A |
C |
11: 30,782,175 (GRCm39) |
I872L |
probably benign |
Het |
| Rab11fip1 |
A |
T |
8: 27,664,420 (GRCm39) |
V65E |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 52,019,473 (GRCm39) |
N700S |
possibly damaging |
Het |
| Slc15a4 |
G |
A |
5: 127,673,773 (GRCm39) |
T547M |
probably damaging |
Het |
| Slfn3 |
T |
A |
11: 83,103,932 (GRCm39) |
C268S |
probably benign |
Het |
| Smc5 |
T |
C |
19: 23,205,554 (GRCm39) |
Q794R |
probably benign |
Het |
| Sqor |
A |
G |
2: 122,651,206 (GRCm39) |
Y434C |
probably damaging |
Het |
| Steap4 |
T |
A |
5: 8,028,502 (GRCm39) |
L360H |
probably damaging |
Het |
| Sycp1 |
A |
G |
3: 102,806,203 (GRCm39) |
V496A |
probably benign |
Het |
| Tmem161b |
T |
G |
13: 84,420,383 (GRCm39) |
M128R |
probably benign |
Het |
| Tmem59l |
T |
C |
8: 70,938,775 (GRCm39) |
E102G |
probably damaging |
Het |
| Tnks |
A |
T |
8: 35,340,247 (GRCm39) |
V457D |
probably benign |
Het |
| Tomt |
A |
G |
7: 101,549,599 (GRCm39) |
Y230H |
probably damaging |
Het |
| Trim37 |
A |
G |
11: 87,080,910 (GRCm39) |
N561D |
probably damaging |
Het |
| V1ra8 |
T |
A |
6: 90,180,295 (GRCm39) |
I166K |
probably damaging |
Het |
| Vmn1r56 |
A |
G |
7: 5,199,575 (GRCm39) |
V14A |
probably benign |
Het |
| Vsig8 |
T |
C |
1: 172,387,925 (GRCm39) |
V5A |
possibly damaging |
Het |
| Vwa8 |
A |
T |
14: 79,184,653 (GRCm39) |
S384C |
possibly damaging |
Het |
| Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
| Zfp984 |
T |
C |
4: 147,840,381 (GRCm39) |
N157D |
probably benign |
Het |
| Zzef1 |
G |
A |
11: 72,765,816 (GRCm39) |
D1448N |
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 |
|
|
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 |
|
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'- GTCTCAATTATCAAGAGGATGCCC -3'
(R):5'- TGATAGTCTTGAAAGCCACTTGC -3'
Sequencing Primer
(F):5'- TTATCAAGAGGATGCCCTGAAC -3'
(R):5'- AGCCACTTGCAAATTGATTTCCTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation