Incidental Mutation 'R1807:Mast2'
ID |
203519 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mast2
|
Ensembl Gene |
ENSMUSG00000003810 |
Gene Name |
microtubule associated serine/threonine kinase 2 |
Synonyms |
MAST205, Mtssk |
MMRRC Submission |
039836-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1807 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
116163957-116321420 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 116167938 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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.7%
- 20x: 90.7%
|
Validation Efficiency |
97% (77/79) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310061I04Rik |
C |
T |
17: 36,205,961 (GRCm39) |
W27* |
probably null |
Het |
4933430I17Rik |
T |
A |
4: 62,460,993 (GRCm39) |
Y289* |
probably null |
Het |
A3galt2 |
A |
G |
4: 128,661,394 (GRCm39) |
I348V |
probably benign |
Het |
Abca13 |
A |
G |
11: 9,241,755 (GRCm39) |
Y1206C |
probably damaging |
Het |
Adar |
T |
C |
3: 89,642,172 (GRCm39) |
S18P |
probably benign |
Het |
Akr1cl |
T |
C |
1: 65,061,106 (GRCm39) |
D139G |
possibly damaging |
Het |
Aldh1b1 |
A |
G |
4: 45,802,873 (GRCm39) |
Y137C |
possibly damaging |
Het |
Arsa |
T |
C |
15: 89,359,525 (GRCm39) |
M86V |
possibly damaging |
Het |
Atg9b |
C |
A |
5: 24,592,055 (GRCm39) |
R648L |
probably damaging |
Het |
Atrn |
A |
G |
2: 130,824,692 (GRCm39) |
N1042S |
possibly damaging |
Het |
Ccdc6 |
T |
A |
10: 70,010,989 (GRCm39) |
D325E |
possibly damaging |
Het |
Cdk12 |
T |
C |
11: 98,101,203 (GRCm39) |
S354P |
unknown |
Het |
Chst3 |
T |
A |
10: 60,022,130 (GRCm39) |
Y239F |
probably benign |
Het |
Cilp2 |
C |
A |
8: 70,334,844 (GRCm39) |
R718L |
probably damaging |
Het |
Col27a1 |
A |
G |
4: 63,249,586 (GRCm39) |
|
probably benign |
Het |
Ctbp2 |
T |
C |
7: 132,616,137 (GRCm39) |
N266S |
probably benign |
Het |
Ctnnd2 |
T |
C |
15: 30,620,017 (GRCm39) |
V123A |
probably damaging |
Het |
Cyria |
G |
A |
12: 12,411,505 (GRCm39) |
R123Q |
probably benign |
Het |
D7Ertd443e |
T |
A |
7: 133,895,034 (GRCm39) |
E552V |
probably null |
Het |
Dcst1 |
T |
A |
3: 89,260,848 (GRCm39) |
H516L |
probably damaging |
Het |
Depp1 |
G |
A |
6: 116,628,683 (GRCm39) |
V9M |
possibly damaging |
Het |
Drd2 |
C |
T |
9: 49,316,367 (GRCm39) |
L376F |
probably damaging |
Het |
Edn1 |
A |
G |
13: 42,460,270 (GRCm39) |
N175S |
probably damaging |
Het |
Eipr1 |
G |
T |
12: 28,816,838 (GRCm39) |
G65V |
probably damaging |
Het |
Epha4 |
G |
A |
1: 77,351,541 (GRCm39) |
P905S |
probably benign |
Het |
Erbb2 |
T |
C |
11: 98,319,680 (GRCm39) |
Y591H |
probably damaging |
Het |
Fam135b |
G |
A |
15: 71,335,761 (GRCm39) |
R478C |
probably benign |
Het |
Fat2 |
T |
C |
11: 55,180,085 (GRCm39) |
T1419A |
probably damaging |
Het |
Flnb |
C |
T |
14: 7,934,645 (GRCm38) |
T2239I |
probably benign |
Het |
Gm7713 |
T |
C |
15: 59,866,320 (GRCm39) |
|
noncoding transcript |
Het |
Hsf5 |
C |
T |
11: 87,548,168 (GRCm39) |
P617L |
probably benign |
Het |
Kcnk12 |
C |
A |
17: 88,053,468 (GRCm39) |
R398L |
probably benign |
Het |
Kif21b |
T |
A |
1: 136,075,531 (GRCm39) |
N219K |
possibly damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Klra5 |
A |
T |
6: 129,876,383 (GRCm39) |
F141L |
probably benign |
Het |
Lmtk3 |
C |
T |
7: 45,442,702 (GRCm39) |
P462S |
probably benign |
Het |
Me1 |
T |
A |
9: 86,532,932 (GRCm39) |
T197S |
probably damaging |
Het |
Msr1 |
T |
A |
8: 40,072,948 (GRCm39) |
Q267L |
probably benign |
Het |
Nfic |
T |
C |
10: 81,240,819 (GRCm39) |
T328A |
probably benign |
Het |
Nphp3 |
G |
A |
9: 103,897,940 (GRCm39) |
D390N |
probably benign |
Het |
Nr2e1 |
T |
A |
10: 42,458,905 (GRCm39) |
|
probably null |
Het |
Nt5el |
A |
T |
13: 105,218,744 (GRCm39) |
Q26L |
probably benign |
Het |
Or52e19b |
T |
A |
7: 103,032,790 (GRCm39) |
N140Y |
probably benign |
Het |
Or5t9 |
T |
A |
2: 86,659,445 (GRCm39) |
F116L |
probably benign |
Het |
Pard6b |
T |
C |
2: 167,929,332 (GRCm39) |
L46P |
probably damaging |
Het |
Prkaa1 |
T |
A |
15: 5,173,436 (GRCm39) |
L20Q |
probably damaging |
Het |
Rapgefl1 |
T |
C |
11: 98,736,815 (GRCm39) |
|
probably null |
Het |
Recql5 |
T |
C |
11: 115,785,941 (GRCm39) |
K611E |
possibly damaging |
Het |
Rexo1 |
A |
T |
10: 80,378,413 (GRCm39) |
I1180N |
possibly damaging |
Het |
Rnf26rt |
A |
G |
6: 76,474,397 (GRCm39) |
V73A |
probably benign |
Het |
Rph3a |
T |
C |
5: 121,083,456 (GRCm39) |
N605D |
probably damaging |
Het |
Sema6a |
A |
G |
18: 47,409,491 (GRCm39) |
V592A |
possibly damaging |
Het |
Skint11 |
A |
T |
4: 114,051,893 (GRCm39) |
R80S |
probably benign |
Het |
Smpdl3a |
C |
A |
10: 57,677,118 (GRCm39) |
P72H |
probably damaging |
Het |
Sobp |
T |
G |
10: 43,036,822 (GRCm39) |
M39L |
possibly damaging |
Het |
Sparcl1 |
T |
A |
5: 104,233,627 (GRCm39) |
Y574F |
probably damaging |
Het |
Spns3 |
C |
T |
11: 72,429,166 (GRCm39) |
W206* |
probably null |
Het |
Srf |
A |
G |
17: 46,864,685 (GRCm39) |
V190A |
possibly damaging |
Het |
Stag1 |
T |
G |
9: 100,790,719 (GRCm39) |
H742Q |
probably benign |
Het |
Strn3 |
A |
T |
12: 51,673,986 (GRCm39) |
S542T |
probably benign |
Het |
Synpo2 |
T |
C |
3: 122,873,906 (GRCm39) |
E1020G |
possibly damaging |
Het |
Tcerg1l |
T |
A |
7: 137,996,826 (GRCm39) |
H137L |
probably benign |
Het |
Tlr12 |
A |
T |
4: 128,511,229 (GRCm39) |
D340E |
probably benign |
Het |
Tmem130 |
T |
A |
5: 144,692,174 (GRCm39) |
T77S |
probably benign |
Het |
Tmem143 |
C |
A |
7: 45,547,037 (GRCm39) |
R68S |
probably damaging |
Het |
Tnrc6a |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
7: 122,761,669 (GRCm39) |
|
probably benign |
Het |
Trem1 |
G |
T |
17: 48,548,663 (GRCm39) |
G67* |
probably null |
Het |
Tsc1 |
A |
G |
2: 28,576,125 (GRCm39) |
D978G |
probably benign |
Het |
Txndc9 |
A |
T |
1: 38,033,096 (GRCm39) |
H95Q |
probably damaging |
Het |
Yju2b |
C |
T |
8: 84,986,936 (GRCm39) |
R187Q |
probably damaging |
Het |
Zfp35 |
T |
A |
18: 24,136,986 (GRCm39) |
N443K |
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 |
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'- CGAGTGGTGCGCTTCTCTATAG -3'
(R):5'- ATTGCCCTGAGGAGACTAGTAG -3'
Sequencing Primer
(F):5'- GCTTCTCTATAGAGTCCCCAGAGAG -3'
(R):5'- TGAGGAGACTAGTAGCACCCCTC -3'
|
Posted On |
2014-06-23 |