Incidental Mutation 'R4980:Mast2'
ID |
384737 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mast2
|
Ensembl Gene |
ENSMUSG00000003810 |
Gene Name |
microtubule associated serine/threonine kinase 2 |
Synonyms |
MAST205, Mtssk |
MMRRC Submission |
042575-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4980 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
116163957-116321420 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116174948 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 469
(Y469H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102095
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003908]
[ENSMUST00000106484]
[ENSMUST00000106485]
[ENSMUST00000106486]
[ENSMUST00000123072]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003908
AA Change: Y401H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000003908 Gene: ENSMUSG00000003810 AA Change: Y401H
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: Y408H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102093 Gene: ENSMUSG00000003810 AA Change: Y408H
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: Y462H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102094 Gene: ENSMUSG00000003810 AA Change: Y462H
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: Y469H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102095 Gene: ENSMUSG00000003810 AA Change: Y469H
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 benign
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: ENSMUST00000123761
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128252
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147262
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156884
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
T |
5: 109,885,292 (GRCm39) |
C189S |
probably damaging |
Het |
Abcd3 |
A |
T |
3: 121,562,917 (GRCm39) |
|
probably null |
Het |
Adar |
T |
C |
3: 89,638,121 (GRCm39) |
S2P |
probably benign |
Het |
Amhr2 |
T |
A |
15: 102,362,765 (GRCm39) |
S511T |
probably benign |
Het |
Atg16l1 |
T |
C |
1: 87,694,553 (GRCm39) |
S77P |
possibly damaging |
Het |
Bltp1 |
T |
C |
3: 36,997,461 (GRCm39) |
S1173P |
probably damaging |
Het |
Cacna1i |
T |
C |
15: 80,232,650 (GRCm39) |
F218L |
probably damaging |
Het |
Cd5l |
A |
T |
3: 87,274,908 (GRCm39) |
H149L |
probably benign |
Het |
Cdc14a |
T |
A |
3: 116,186,506 (GRCm39) |
R92* |
probably null |
Het |
Col19a1 |
T |
C |
1: 24,565,564 (GRCm39) |
T256A |
unknown |
Het |
Col22a1 |
C |
T |
15: 71,673,792 (GRCm39) |
A975T |
unknown |
Het |
Cracd |
A |
T |
5: 77,005,421 (GRCm39) |
D594V |
unknown |
Het |
Cyp20a1 |
T |
C |
1: 60,402,373 (GRCm39) |
W153R |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Dpyd |
T |
C |
3: 118,710,767 (GRCm39) |
S392P |
probably damaging |
Het |
Dst |
A |
T |
1: 34,295,369 (GRCm39) |
L957F |
probably damaging |
Het |
Emilin2 |
G |
T |
17: 71,560,066 (GRCm39) |
D970E |
possibly damaging |
Het |
Fbn2 |
T |
C |
18: 58,143,703 (GRCm39) |
E2784G |
probably benign |
Het |
Fbxw10 |
T |
C |
11: 62,738,583 (GRCm39) |
I159T |
possibly damaging |
Het |
Fgfr2 |
T |
C |
7: 129,802,810 (GRCm39) |
Y192C |
probably damaging |
Het |
Gm7298 |
A |
G |
6: 121,736,198 (GRCm39) |
|
probably null |
Het |
Igf2r |
C |
T |
17: 12,922,247 (GRCm39) |
|
probably null |
Het |
Ints4 |
T |
C |
7: 97,151,057 (GRCm39) |
|
probably null |
Het |
Kcnf1 |
A |
G |
12: 17,225,012 (GRCm39) |
F403S |
possibly damaging |
Het |
Kif11 |
C |
T |
19: 37,375,819 (GRCm39) |
Q211* |
probably null |
Het |
Kif13a |
A |
G |
13: 46,906,222 (GRCm39) |
S574P |
possibly damaging |
Het |
Kifc3 |
T |
A |
8: 95,853,177 (GRCm39) |
T60S |
probably benign |
Het |
Krt82 |
T |
C |
15: 101,453,534 (GRCm39) |
D284G |
possibly damaging |
Het |
Lancl1 |
T |
C |
1: 67,043,968 (GRCm39) |
Y344C |
probably benign |
Het |
Ltbp3 |
A |
T |
19: 5,803,955 (GRCm39) |
|
probably null |
Het |
Map3k4 |
A |
G |
17: 12,490,958 (GRCm39) |
F158L |
probably damaging |
Het |
Mcf2l |
T |
G |
8: 13,034,883 (GRCm39) |
F97C |
probably damaging |
Het |
Mpeg1 |
T |
C |
19: 12,438,904 (GRCm39) |
S121P |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,497,821 (GRCm39) |
|
probably null |
Het |
Myt1l |
A |
T |
12: 29,877,038 (GRCm39) |
T230S |
unknown |
Het |
Naa15 |
T |
C |
3: 51,366,173 (GRCm39) |
|
probably null |
Het |
Nans |
G |
A |
4: 46,492,764 (GRCm39) |
R64Q |
probably benign |
Het |
Nbea |
C |
T |
3: 55,554,772 (GRCm39) |
|
probably null |
Het |
Nbea |
T |
C |
3: 55,860,466 (GRCm39) |
E1870G |
probably benign |
Het |
Ncapd3 |
T |
C |
9: 26,974,591 (GRCm39) |
S688P |
probably damaging |
Het |
Nedd4l |
G |
T |
18: 65,213,131 (GRCm39) |
E96* |
probably null |
Het |
Or56a5 |
T |
A |
7: 104,793,431 (GRCm39) |
Y23F |
probably benign |
Het |
Or5b21 |
A |
T |
19: 12,839,384 (GRCm39) |
M82L |
probably benign |
Het |
Pdxk |
A |
G |
10: 78,287,318 (GRCm39) |
L81P |
probably damaging |
Het |
Plec |
T |
A |
15: 76,077,495 (GRCm39) |
R269* |
probably null |
Het |
Plec |
T |
C |
15: 76,090,065 (GRCm39) |
I92V |
probably damaging |
Het |
Ppara |
T |
C |
15: 85,671,434 (GRCm39) |
Y112H |
probably damaging |
Het |
Ppp2r2c |
A |
T |
5: 37,109,732 (GRCm39) |
M364L |
probably benign |
Het |
Prag1 |
A |
C |
8: 36,606,740 (GRCm39) |
H827P |
probably damaging |
Het |
Ptprg |
A |
G |
14: 12,154,421 (GRCm38) |
N714S |
probably benign |
Het |
Rbp2 |
G |
A |
9: 98,380,894 (GRCm39) |
V67I |
probably benign |
Het |
Rictor |
T |
A |
15: 6,811,141 (GRCm39) |
Y835N |
probably damaging |
Het |
Ripply2 |
A |
G |
9: 86,901,747 (GRCm39) |
Q91R |
probably damaging |
Het |
Sap130 |
C |
A |
18: 31,782,699 (GRCm39) |
H203Q |
possibly damaging |
Het |
Sema4d |
T |
C |
13: 51,865,270 (GRCm39) |
Y358C |
probably damaging |
Het |
Serbp1 |
G |
A |
6: 67,254,872 (GRCm39) |
D294N |
probably benign |
Het |
Slc16a10 |
A |
G |
10: 39,956,801 (GRCm39) |
W113R |
probably damaging |
Het |
Slc6a6 |
A |
G |
6: 91,703,041 (GRCm39) |
Y138C |
probably damaging |
Het |
Spag11a |
T |
C |
8: 19,207,962 (GRCm39) |
M1T |
probably null |
Het |
Spata20 |
T |
C |
11: 94,375,435 (GRCm39) |
M120V |
probably damaging |
Het |
Stk32a |
A |
C |
18: 43,447,113 (GRCm39) |
K357Q |
probably benign |
Het |
Tasor |
T |
A |
14: 27,183,382 (GRCm39) |
L614I |
probably benign |
Het |
Trmo |
A |
T |
4: 46,389,364 (GRCm39) |
C10* |
probably null |
Het |
Tsc22d1 |
T |
G |
14: 76,655,696 (GRCm39) |
V643G |
probably benign |
Het |
Vangl2 |
A |
T |
1: 171,837,132 (GRCm39) |
L226I |
probably damaging |
Het |
Vps35l |
T |
A |
7: 118,406,232 (GRCm39) |
D605E |
probably damaging |
Het |
Wnt3a |
A |
T |
11: 59,140,626 (GRCm39) |
C297S |
probably damaging |
Het |
Wwc1 |
T |
C |
11: 35,778,930 (GRCm39) |
K301E |
possibly damaging |
Het |
Zfhx4 |
C |
T |
3: 5,464,039 (GRCm39) |
T1399I |
possibly damaging |
Het |
Zswim4 |
C |
T |
8: 84,953,296 (GRCm39) |
|
probably null |
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 |
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'- AACGTAGCTGGCTAGGACAG -3'
(R):5'- GAAGTTTGAATTCTTCCCCTCTGATG -3'
Sequencing Primer
(F):5'- GAGCAGGTAAATGTAAACATTGATTC -3'
(R):5'- CCTCTGATGTGTACTTGAATGC -3'
|
Posted On |
2016-05-10 |