Incidental Mutation 'R6230:Mast2'
ID |
504613 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mast2
|
Ensembl Gene |
ENSMUSG00000003810 |
Gene Name |
microtubule associated serine/threonine kinase 2 |
Synonyms |
MAST205, Mtssk |
MMRRC Submission |
044359-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6230 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
116163957-116321420 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 116183295 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 258
(H258L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003908
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003908]
[ENSMUST00000106484]
[ENSMUST00000106485]
[ENSMUST00000106486]
[ENSMUST00000123072]
[ENSMUST00000144281]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003908
AA Change: H258L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000003908 Gene: ENSMUSG00000003810 AA Change: H258L
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: H265L
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000102093 Gene: ENSMUSG00000003810 AA Change: H265L
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: H319L
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102094 Gene: ENSMUSG00000003810 AA Change: H319L
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: H326L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000102095 Gene: ENSMUSG00000003810 AA Change: H326L
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 damaging
Transcript: ENSMUST00000123072
AA Change: H182L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000118340 Gene: ENSMUSG00000003810 AA Change: H182L
Domain | Start | End | E-Value | Type |
Pfam:DUF1908
|
58 |
203 |
2.9e-74 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128252
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147262
|
Meta Mutation Damage Score |
0.4237 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.1%
|
Validation Efficiency |
100% (49/49) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adnp |
T |
C |
2: 168,024,452 (GRCm39) |
T948A |
probably benign |
Het |
Arhgef12 |
T |
C |
9: 42,900,261 (GRCm39) |
I871V |
probably benign |
Het |
Atf1 |
T |
C |
15: 100,130,705 (GRCm39) |
V25A |
possibly damaging |
Het |
Atp23 |
G |
A |
10: 126,723,431 (GRCm39) |
H224Y |
probably benign |
Het |
Ccpg1 |
A |
G |
9: 72,919,638 (GRCm39) |
T418A |
probably benign |
Het |
Col27a1 |
T |
C |
4: 63,142,519 (GRCm39) |
I69T |
probably damaging |
Het |
Cspp1 |
T |
C |
1: 10,147,422 (GRCm39) |
S328P |
probably benign |
Het |
Cttnbp2nl |
C |
T |
3: 104,918,655 (GRCm39) |
E62K |
probably damaging |
Het |
Cyp2c39 |
T |
C |
19: 39,525,246 (GRCm39) |
F183S |
probably damaging |
Het |
Dync2li1 |
T |
C |
17: 84,955,078 (GRCm39) |
S246P |
probably damaging |
Het |
Ext2 |
A |
G |
2: 93,592,965 (GRCm39) |
I413T |
probably damaging |
Het |
Fam174a |
T |
C |
1: 95,241,951 (GRCm39) |
V137A |
probably damaging |
Het |
Flg |
T |
A |
3: 93,186,782 (GRCm39) |
V78E |
probably damaging |
Het |
Fn3krp |
C |
A |
11: 121,316,418 (GRCm39) |
H111N |
probably damaging |
Het |
Focad |
T |
C |
4: 88,260,441 (GRCm39) |
I899T |
unknown |
Het |
Foxq1 |
T |
C |
13: 31,743,491 (GRCm39) |
Y198H |
probably damaging |
Het |
Gm21060 |
A |
T |
19: 61,285,449 (GRCm39) |
M20K |
probably benign |
Het |
Kif16b |
A |
T |
2: 142,691,832 (GRCm39) |
N217K |
probably damaging |
Het |
Klkb1 |
A |
G |
8: 45,736,252 (GRCm39) |
Y162H |
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,927,072 (GRCm39) |
|
probably null |
Het |
Madd |
C |
T |
2: 90,973,866 (GRCm39) |
|
probably null |
Het |
Musk |
T |
C |
4: 58,367,576 (GRCm39) |
V598A |
probably damaging |
Het |
Nexn |
T |
A |
3: 151,943,912 (GRCm39) |
Q539L |
probably damaging |
Het |
Nf2 |
T |
C |
11: 4,758,262 (GRCm39) |
K130E |
possibly damaging |
Het |
Nlrp14 |
A |
T |
7: 106,781,024 (GRCm39) |
I74F |
probably benign |
Het |
Omg |
T |
C |
11: 79,393,784 (GRCm39) |
I25V |
probably benign |
Het |
Or56b35 |
A |
G |
7: 104,963,289 (GRCm39) |
H26R |
possibly damaging |
Het |
Or8b54 |
T |
G |
9: 38,687,073 (GRCm39) |
I174S |
possibly damaging |
Het |
Parp4 |
A |
G |
14: 56,844,990 (GRCm39) |
D627G |
probably damaging |
Het |
Pdia6 |
A |
G |
12: 17,327,214 (GRCm39) |
E126G |
probably benign |
Het |
Ppp1r2 |
T |
A |
16: 31,079,418 (GRCm39) |
D127V |
possibly damaging |
Het |
Pramel17 |
T |
A |
4: 101,694,411 (GRCm39) |
E157D |
probably damaging |
Het |
Rgs22 |
A |
G |
15: 36,100,176 (GRCm39) |
S304P |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,674,993 (GRCm39) |
Y3378C |
probably damaging |
Het |
Shoc1 |
T |
C |
4: 59,099,345 (GRCm39) |
N116D |
probably benign |
Het |
Slitrk5 |
GACTAC |
GACTACTAC |
14: 111,917,248 (GRCm39) |
|
probably benign |
Het |
Smurf2 |
T |
C |
11: 106,759,330 (GRCm39) |
|
probably null |
Het |
Tanc1 |
T |
C |
2: 59,672,375 (GRCm39) |
F1348L |
probably damaging |
Het |
Tars3 |
A |
T |
7: 65,336,184 (GRCm39) |
|
probably null |
Het |
Tmem213 |
A |
T |
6: 38,091,551 (GRCm39) |
S52C |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,749,778 (GRCm39) |
D3757G |
probably benign |
Het |
Usp16 |
C |
T |
16: 87,261,686 (GRCm39) |
P101S |
possibly damaging |
Het |
Usp19 |
G |
A |
9: 108,379,140 (GRCm39) |
M1318I |
probably damaging |
Het |
Vmn1r75 |
G |
A |
7: 11,614,966 (GRCm39) |
A233T |
probably damaging |
Het |
Vsir |
A |
T |
10: 60,193,857 (GRCm39) |
N107Y |
probably damaging |
Het |
Zfp160 |
T |
C |
17: 21,246,707 (GRCm39) |
V419A |
probably benign |
Het |
Zfp808 |
A |
T |
13: 62,320,136 (GRCm39) |
H455L |
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 |
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'- AGCTCTGCAAGTAAAGACCC -3'
(R):5'- GCCTGAAACTTTGCTTTCATGAATG -3'
Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- TGCTTTCATGAATGTAGGAATATGTG -3'
|
Posted On |
2018-02-28 |