Incidental Mutation 'R5750:Mast2'
ID |
445956 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mast2
|
Ensembl Gene |
ENSMUSG00000003810 |
Gene Name |
microtubule associated serine/threonine kinase 2 |
Synonyms |
MAST205, Mtssk |
MMRRC Submission |
043356-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5750 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
116163957-116321420 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 116166086 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 benign
Transcript: ENSMUST00000003908
|
SMART Domains |
Protein: ENSMUSP00000003908 Gene: ENSMUSG00000003810
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
|
SMART Domains |
Protein: ENSMUSP00000102093 Gene: ENSMUSG00000003810
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
|
SMART Domains |
Protein: ENSMUSP00000102094 Gene: ENSMUSG00000003810
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
|
SMART Domains |
Protein: ENSMUSP00000102095 Gene: ENSMUSG00000003810
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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (55/55) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agmat |
G |
A |
4: 141,476,998 (GRCm39) |
V135I |
probably benign |
Het |
Agr3 |
T |
C |
12: 35,996,941 (GRCm39) |
Y72H |
probably benign |
Het |
Ankhd1 |
T |
A |
18: 36,757,955 (GRCm39) |
M883K |
probably benign |
Het |
Cpeb1 |
A |
T |
7: 81,086,099 (GRCm39) |
D9E |
probably benign |
Het |
Creb3l1 |
C |
T |
2: 91,816,608 (GRCm39) |
V386M |
possibly damaging |
Het |
Dnlz |
C |
T |
2: 26,241,423 (GRCm39) |
V102M |
probably damaging |
Het |
Esp4 |
C |
T |
17: 40,913,286 (GRCm39) |
T51M |
probably benign |
Het |
Fap |
C |
A |
2: 62,359,058 (GRCm39) |
C443F |
probably damaging |
Het |
Fbxo17 |
G |
A |
7: 28,436,897 (GRCm39) |
R284H |
probably damaging |
Het |
Fpr1 |
T |
A |
17: 18,097,525 (GRCm39) |
I155F |
probably benign |
Het |
Fshr |
T |
A |
17: 89,293,669 (GRCm39) |
L336F |
probably benign |
Het |
Gna15 |
G |
A |
10: 81,345,230 (GRCm39) |
Q212* |
probably null |
Het |
Hk1 |
A |
G |
10: 62,110,245 (GRCm39) |
F785L |
possibly damaging |
Het |
Ints8 |
T |
A |
4: 11,241,654 (GRCm39) |
Q263L |
possibly damaging |
Het |
Itgax |
T |
C |
7: 127,743,878 (GRCm39) |
F880L |
probably benign |
Het |
Kcnq4 |
A |
C |
4: 120,572,246 (GRCm39) |
V327G |
probably damaging |
Het |
Kdm4a |
A |
G |
4: 117,999,396 (GRCm39) |
|
probably benign |
Het |
Leng8 |
C |
T |
7: 4,145,119 (GRCm39) |
S173L |
probably benign |
Het |
Lrrc37a |
C |
T |
11: 103,348,923 (GRCm39) |
D2591N |
unknown |
Het |
Macrod2 |
T |
A |
2: 141,357,240 (GRCm39) |
S179T |
probably benign |
Het |
Map4k2 |
T |
A |
19: 6,401,367 (GRCm39) |
S612R |
probably benign |
Het |
Micall2 |
C |
T |
5: 139,701,456 (GRCm39) |
|
probably null |
Het |
Miga2 |
T |
A |
2: 30,261,577 (GRCm39) |
W191R |
probably damaging |
Het |
Mterf1b |
T |
C |
5: 4,246,683 (GRCm39) |
I108T |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,082,254 (GRCm39) |
I1319V |
probably benign |
Het |
Nalcn |
T |
C |
14: 123,809,450 (GRCm39) |
E234G |
probably benign |
Het |
Ncoa4 |
T |
A |
14: 31,899,264 (GRCm39) |
C602* |
probably null |
Het |
Ntrk2 |
C |
A |
13: 58,956,736 (GRCm39) |
P65Q |
probably benign |
Het |
Or52z15 |
G |
A |
7: 103,332,362 (GRCm39) |
V136I |
possibly damaging |
Het |
Or6c215 |
C |
T |
10: 129,637,489 (GRCm39) |
V302M |
probably benign |
Het |
P3h1 |
A |
T |
4: 119,095,863 (GRCm39) |
I324F |
probably damaging |
Het |
Peli2 |
G |
T |
14: 48,493,632 (GRCm39) |
V285L |
possibly damaging |
Het |
Qser1 |
A |
G |
2: 104,619,268 (GRCm39) |
S515P |
probably damaging |
Het |
Rnf31 |
C |
T |
14: 55,836,143 (GRCm39) |
R721C |
probably damaging |
Het |
Rps5 |
A |
G |
7: 12,659,334 (GRCm39) |
K42E |
probably damaging |
Het |
Rufy4 |
A |
T |
1: 74,172,068 (GRCm39) |
T264S |
probably benign |
Het |
Shq1 |
A |
T |
6: 100,588,775 (GRCm39) |
V259D |
possibly damaging |
Het |
Slc22a3 |
T |
C |
17: 12,652,395 (GRCm39) |
I410V |
probably benign |
Het |
Stx5a |
T |
C |
19: 8,732,501 (GRCm39) |
|
probably benign |
Het |
Syne1 |
G |
T |
10: 5,289,209 (GRCm39) |
H1430Q |
probably benign |
Het |
Tasor2 |
G |
A |
13: 3,623,642 (GRCm39) |
Q1421* |
probably null |
Het |
Tmem126b |
A |
C |
7: 90,118,865 (GRCm39) |
V141G |
probably damaging |
Het |
Trim52 |
C |
A |
14: 106,344,932 (GRCm39) |
Q197K |
probably benign |
Het |
Tshz1 |
A |
G |
18: 84,032,086 (GRCm39) |
L774P |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,602,031 (GRCm39) |
S10217G |
possibly damaging |
Het |
Unc45a |
A |
G |
7: 79,984,571 (GRCm39) |
V228A |
probably benign |
Het |
Unc93a2 |
C |
T |
17: 7,637,130 (GRCm39) |
V133I |
probably benign |
Het |
Vwa2 |
G |
T |
19: 56,897,663 (GRCm39) |
G656V |
probably benign |
Het |
Xpo5 |
T |
C |
17: 46,529,556 (GRCm39) |
|
probably null |
Het |
Zeb2 |
T |
A |
2: 44,887,530 (GRCm39) |
Q494L |
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 |
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'- ACCTGAGTGCACAGCATCTG -3'
(R):5'- GGCTTCCTAGAGTGGAAACAAG -3'
Sequencing Primer
(F):5'- TGCACAGCATCTGGGGCTAC -3'
(R):5'- CTTCCTAGAGTGGAAACAAGGTATC -3'
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Posted On |
2016-11-21 |