Incidental Mutation 'R5322:Mast2'
| ID |
404890 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mast2
|
| Ensembl Gene |
ENSMUSG00000003810 |
| Gene Name |
microtubule associated serine/threonine kinase 2 |
| Synonyms |
MAST205, Mtssk |
| MMRRC Submission |
042905-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5322 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
116163957-116321420 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 116190608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003908]
[ENSMUST00000106484]
[ENSMUST00000106485]
[ENSMUST00000106486]
[ENSMUST00000123072]
[ENSMUST00000144281]
|
| 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 null
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 null
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 |
probably null
Transcript: ENSMUST00000123072
|
| SMART Domains |
Protein: ENSMUSP00000118340
Gene: ENSMUSG00000003810
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1908
|
58 |
203 |
2.9e-74 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128252
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134460
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151347
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144281
|
| SMART Domains |
Protein: ENSMUSP00000122625
Gene: ENSMUSG00000003810
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1908
|
57 |
144 |
2.3e-38 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
C |
T |
5: 89,855,159 (GRCm39) |
|
probably null |
Het |
| Ankar |
T |
C |
1: 72,729,545 (GRCm39) |
|
probably null |
Het |
| Ankrd60 |
T |
A |
2: 173,410,610 (GRCm39) |
K303N |
possibly damaging |
Het |
| Appbp2 |
A |
G |
11: 85,086,890 (GRCm39) |
|
probably null |
Het |
| Arvcf |
T |
C |
16: 18,215,508 (GRCm39) |
M176T |
probably benign |
Het |
| Cachd1 |
T |
C |
4: 100,809,319 (GRCm39) |
I268T |
probably damaging |
Het |
| Ccdc66 |
A |
G |
14: 27,204,484 (GRCm39) |
S933P |
probably damaging |
Het |
| Cfi |
C |
T |
3: 129,666,689 (GRCm39) |
P471S |
probably damaging |
Het |
| Ckmt2 |
G |
T |
13: 92,009,891 (GRCm39) |
T143K |
possibly damaging |
Het |
| Cnksr3 |
A |
T |
10: 7,085,078 (GRCm39) |
D15E |
probably damaging |
Het |
| Copb2 |
A |
T |
9: 98,468,029 (GRCm39) |
K680N |
probably benign |
Het |
| D2hgdh |
T |
C |
1: 93,757,620 (GRCm39) |
|
probably null |
Het |
| Dcn |
A |
T |
10: 97,353,464 (GRCm39) |
T338S |
probably benign |
Het |
| Dipk2a |
A |
G |
9: 94,402,615 (GRCm39) |
I349T |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,850,630 (GRCm39) |
G1644D |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,384,390 (GRCm39) |
I3045V |
probably benign |
Het |
| Dock3 |
G |
A |
9: 106,779,028 (GRCm39) |
T307I |
probably benign |
Het |
| Dock5 |
A |
T |
14: 68,007,715 (GRCm39) |
I1498N |
probably benign |
Het |
| Emc1 |
A |
T |
4: 139,081,557 (GRCm39) |
N62Y |
probably damaging |
Het |
| Enpp6 |
C |
A |
8: 47,521,950 (GRCm39) |
H295N |
probably benign |
Het |
| Epha10 |
A |
G |
4: 124,779,541 (GRCm39) |
Y129C |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,172,387 (GRCm39) |
D2139E |
probably benign |
Het |
| Fbxl12 |
A |
T |
9: 20,550,304 (GRCm39) |
V140E |
probably damaging |
Het |
| Fignl1 |
A |
T |
11: 11,751,571 (GRCm39) |
F495I |
probably damaging |
Het |
| Gm43302 |
C |
T |
5: 105,365,347 (GRCm39) |
A554T |
probably benign |
Het |
| Gpr157 |
A |
G |
4: 150,183,309 (GRCm39) |
N160D |
probably benign |
Het |
| Il1rn |
G |
A |
2: 24,238,641 (GRCm39) |
|
probably null |
Het |
| Kctd13 |
T |
A |
7: 126,528,378 (GRCm39) |
L51Q |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,516,722 (GRCm39) |
F1561L |
probably damaging |
Het |
| Mib1 |
A |
G |
18: 10,792,975 (GRCm39) |
H637R |
probably damaging |
Het |
| Moxd1 |
A |
T |
10: 24,120,151 (GRCm39) |
N93I |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,423,119 (GRCm39) |
|
probably null |
Het |
| Myot |
T |
C |
18: 44,487,216 (GRCm39) |
F351S |
probably benign |
Het |
| N4bp2 |
T |
A |
5: 65,947,800 (GRCm39) |
N143K |
possibly damaging |
Het |
| Or10ac1 |
T |
C |
6: 42,515,950 (GRCm39) |
D2G |
probably benign |
Het |
| Or2ah1 |
T |
A |
2: 85,653,531 (GRCm39) |
I72N |
probably damaging |
Het |
| Or51b6b |
T |
C |
7: 103,309,879 (GRCm39) |
I193V |
possibly damaging |
Het |
| Or52a20 |
T |
A |
7: 103,366,319 (GRCm39) |
W173R |
probably benign |
Het |
| Or52n2 |
C |
T |
7: 104,542,371 (GRCm39) |
V155I |
probably benign |
Het |
| Or8b3 |
A |
T |
9: 38,314,862 (GRCm39) |
I228F |
probably damaging |
Het |
| Or8b52 |
T |
A |
9: 38,576,502 (GRCm39) |
I213L |
probably benign |
Het |
| Patl1 |
C |
T |
19: 11,898,223 (GRCm39) |
R134* |
probably null |
Het |
| Paxbp1 |
T |
C |
16: 90,812,050 (GRCm39) |
I887V |
probably benign |
Het |
| Pi4kb |
G |
A |
3: 94,901,560 (GRCm39) |
R436Q |
probably benign |
Het |
| Pla2g3 |
A |
G |
11: 3,438,686 (GRCm39) |
E112G |
probably benign |
Het |
| Ppp2r2a |
A |
G |
14: 67,276,322 (GRCm39) |
|
probably null |
Het |
| Rela |
T |
A |
19: 5,695,408 (GRCm39) |
S311R |
possibly damaging |
Het |
| Sidt1 |
T |
A |
16: 44,101,985 (GRCm39) |
|
probably benign |
Het |
| Smco2 |
T |
C |
6: 146,772,785 (GRCm39) |
L329P |
probably damaging |
Het |
| Speer4f1 |
A |
T |
5: 17,682,347 (GRCm39) |
I77F |
possibly damaging |
Het |
| Tex14 |
A |
G |
11: 87,402,298 (GRCm39) |
I462V |
probably benign |
Het |
| Tmem260 |
C |
T |
14: 48,724,306 (GRCm39) |
R385W |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,781,034 (GRCm39) |
V2974A |
probably damaging |
Het |
| Usp47 |
C |
T |
7: 111,652,476 (GRCm39) |
T31I |
probably damaging |
Het |
| Zc2hc1a |
A |
G |
3: 7,616,481 (GRCm39) |
N247S |
probably benign |
Het |
| Zeb2 |
A |
C |
2: 44,887,107 (GRCm39) |
M582R |
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 |
|
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'- CCAACAGGGAGTACTGAGATCC -3'
(R):5'- CCAGGTGTGTAGAGTAAGGATCC -3'
Sequencing Primer
(F):5'- GGAGTACTGAGATCCCATATGCC -3'
(R):5'- TGTAGAGTAAGGATCCCTTCAGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation