Incidental Mutation 'R8115:Mast2'
ID |
631125 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mast2
|
Ensembl Gene |
ENSMUSG00000003810 |
Gene Name |
microtubule associated serine/threonine kinase 2 |
Synonyms |
MAST205, Mtssk |
MMRRC Submission |
067544-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8115 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
116163957-116321420 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116292644 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 109
(S109P)
|
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 |
possibly damaging
Transcript: ENSMUST00000003908
AA Change: S48P
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000003908 Gene: ENSMUSG00000003810 AA Change: S48P
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
AA Change: S48P
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000102093 Gene: ENSMUSG00000003810 AA Change: S48P
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
AA Change: S109P
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000102094 Gene: ENSMUSG00000003810 AA Change: S109P
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
AA Change: S109P
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000102095 Gene: ENSMUSG00000003810 AA Change: S109P
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 |
|
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.5%
- 10x: 98.4%
- 20x: 94.2%
|
Validation Efficiency |
100% (68/68) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
T |
G |
15: 60,791,996 (GRCm39) |
I211L |
probably benign |
Het |
Abhd16b |
G |
A |
2: 181,135,527 (GRCm39) |
R143H |
possibly damaging |
Het |
Abt1 |
T |
C |
13: 23,606,402 (GRCm39) |
E184G |
probably damaging |
Het |
Aqp1 |
AGG |
AGGG |
6: 55,322,498 (GRCm39) |
|
probably null |
Het |
Asxl3 |
G |
A |
18: 22,650,642 (GRCm39) |
R877Q |
probably damaging |
Het |
B3galt1 |
A |
G |
2: 67,948,320 (GRCm39) |
T12A |
possibly damaging |
Het |
Bcat1 |
G |
A |
6: 144,955,819 (GRCm39) |
P354L |
probably damaging |
Het |
C9orf72 |
T |
C |
4: 35,218,763 (GRCm39) |
Y32C |
|
Het |
Cad |
T |
C |
5: 31,218,271 (GRCm39) |
F452L |
possibly damaging |
Het |
Cadps2 |
T |
A |
6: 23,328,897 (GRCm39) |
I973F |
probably benign |
Het |
Cenpq |
T |
C |
17: 41,243,720 (GRCm39) |
N43D |
probably damaging |
Het |
Chd9 |
G |
T |
8: 91,762,960 (GRCm39) |
V2262L |
probably damaging |
Het |
Cttnbp2nl |
G |
T |
3: 104,913,402 (GRCm39) |
Q161K |
probably damaging |
Het |
D630003M21Rik |
A |
T |
2: 158,058,510 (GRCm39) |
H463Q |
probably benign |
Het |
Defb1 |
C |
T |
8: 22,284,500 (GRCm39) |
H40Y |
probably benign |
Het |
Dmrtb1 |
A |
T |
4: 107,534,256 (GRCm39) |
D186E |
probably benign |
Het |
Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
Efr3a |
T |
A |
15: 65,738,644 (GRCm39) |
F758I |
probably damaging |
Het |
Fap |
A |
G |
2: 62,349,385 (GRCm39) |
I501T |
probably benign |
Het |
Galr3 |
C |
T |
15: 78,927,524 (GRCm39) |
R322* |
probably null |
Het |
Hrnr |
C |
A |
3: 93,231,039 (GRCm39) |
R426S |
unknown |
Het |
Hsp90ab1 |
A |
T |
17: 45,880,201 (GRCm39) |
M476K |
possibly damaging |
Het |
Igsf3 |
G |
T |
3: 101,362,595 (GRCm39) |
R872L |
probably benign |
Het |
Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
Iqsec3 |
T |
G |
6: 121,449,989 (GRCm39) |
R178S |
unknown |
Het |
Itgbl1 |
T |
C |
14: 124,094,955 (GRCm39) |
C327R |
probably damaging |
Het |
Itsn2 |
A |
T |
12: 4,723,602 (GRCm39) |
Q1179L |
possibly damaging |
Het |
Kcnb2 |
T |
C |
1: 15,781,851 (GRCm39) |
*908R |
probably null |
Het |
Kdm5b |
G |
T |
1: 134,547,411 (GRCm39) |
W1020L |
possibly damaging |
Het |
Kpna3 |
C |
A |
14: 61,608,367 (GRCm39) |
V364L |
probably damaging |
Het |
Lsm14a |
T |
C |
7: 34,074,662 (GRCm39) |
I93V |
probably benign |
Het |
Muc4 |
G |
A |
16: 32,575,678 (GRCm39) |
S1726N |
unknown |
Het |
Myo7a |
T |
C |
7: 97,715,653 (GRCm39) |
D1477G |
probably damaging |
Het |
Nostrin |
G |
A |
2: 69,011,264 (GRCm39) |
|
probably null |
Het |
Oasl1 |
T |
A |
5: 115,074,996 (GRCm39) |
V352E |
probably damaging |
Het |
Or9a2 |
T |
A |
6: 41,748,472 (GRCm39) |
T254S |
probably benign |
Het |
Pafah1b1 |
A |
G |
11: 74,575,319 (GRCm39) |
V195A |
probably damaging |
Het |
Pcdhb4 |
G |
A |
18: 37,442,453 (GRCm39) |
V588M |
probably damaging |
Het |
Pcsk5 |
A |
G |
19: 17,487,530 (GRCm39) |
|
probably null |
Het |
Peg10 |
A |
G |
6: 4,756,707 (GRCm39) |
I428V |
unknown |
Het |
Pmfbp1 |
G |
A |
8: 110,263,669 (GRCm39) |
V824M |
probably damaging |
Het |
Prkag3 |
T |
C |
1: 74,787,118 (GRCm39) |
R47G |
possibly damaging |
Het |
Prl8a1 |
T |
A |
13: 27,758,028 (GRCm39) |
H227L |
probably benign |
Het |
Prune2 |
A |
G |
19: 17,101,288 (GRCm39) |
D2264G |
probably benign |
Het |
Psg28 |
A |
G |
7: 18,164,311 (GRCm39) |
Y134H |
probably benign |
Het |
Rab3gap2 |
T |
A |
1: 184,999,447 (GRCm39) |
Y1019N |
possibly damaging |
Het |
Rbm15 |
A |
T |
3: 107,238,966 (GRCm39) |
F477L |
probably damaging |
Het |
Ric1 |
A |
T |
19: 29,563,973 (GRCm39) |
N576Y |
probably damaging |
Het |
S1pr1 |
T |
A |
3: 115,506,298 (GRCm39) |
T99S |
probably benign |
Het |
Serpinb9b |
G |
T |
13: 33,219,531 (GRCm39) |
V153F |
probably null |
Het |
Sh2d3c |
A |
G |
2: 32,615,276 (GRCm39) |
E122G |
probably benign |
Het |
Slc6a11 |
T |
A |
6: 114,108,442 (GRCm39) |
W69R |
probably damaging |
Het |
Slco6c1 |
T |
A |
1: 97,000,686 (GRCm39) |
I539F |
probably damaging |
Het |
Smgc |
G |
T |
15: 91,733,322 (GRCm39) |
|
probably null |
Het |
Spata17 |
T |
C |
1: 186,849,653 (GRCm39) |
Y194C |
probably damaging |
Het |
Tap1 |
A |
T |
17: 34,412,293 (GRCm39) |
|
probably null |
Het |
Topbp1 |
T |
C |
9: 103,197,740 (GRCm39) |
S440P |
probably benign |
Het |
Trpc6 |
T |
C |
9: 8,609,982 (GRCm39) |
L150P |
probably damaging |
Het |
Ttll4 |
C |
T |
1: 74,726,489 (GRCm39) |
Q696* |
probably null |
Het |
Ubash3b |
C |
T |
9: 40,937,624 (GRCm39) |
E447K |
probably damaging |
Het |
Unc5cl |
T |
C |
17: 48,774,438 (GRCm39) |
S477P |
possibly damaging |
Het |
Unc80 |
A |
G |
1: 66,688,072 (GRCm39) |
T2357A |
probably benign |
Het |
Vmn1r58 |
A |
T |
7: 5,413,341 (GRCm39) |
S296R |
probably benign |
Het |
Vmn2r85 |
G |
T |
10: 130,261,820 (GRCm39) |
N172K |
probably benign |
Het |
Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
Yipf7 |
T |
A |
5: 69,684,570 (GRCm39) |
T82S |
probably benign |
Het |
Zap70 |
A |
G |
1: 36,820,287 (GRCm39) |
S523G |
probably damaging |
Het |
Zfp354a |
A |
G |
11: 50,960,490 (GRCm39) |
T233A |
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 |
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 |
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'- GCTACCAAGATGACCACTCAATTG -3'
(R):5'- GGGCTGCACGTAAAGGTAC -3'
Sequencing Primer
(F):5'- CCCAGGTTATATACAGGCTAAG -3'
(R):5'- ATCCTCTGGGACTGCTGTTAACAG -3'
|
Posted On |
2020-06-30 |