Incidental Mutation 'R8312:Mast2'
| ID |
641429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mast2
|
| Ensembl Gene |
ENSMUSG00000003810 |
| Gene Name |
microtubule associated serine/threonine kinase 2 |
| Synonyms |
MAST205, Mtssk |
| MMRRC Submission |
067718-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8312 (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 116287683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 131
(S131P)
|
| 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
AA Change: S70P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000003908
Gene: ENSMUSG00000003810
AA Change: S70P
| 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: S70P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102093
Gene: ENSMUSG00000003810
AA Change: S70P
| 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: S131P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102094
Gene: ENSMUSG00000003810
AA Change: S131P
| 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: S131P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102095
Gene: ENSMUSG00000003810
AA Change: S131P
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
T |
C |
12: 84,662,190 (GRCm39) |
R23G |
probably damaging |
Het |
| Abraxas2 |
A |
G |
7: 132,478,329 (GRCm39) |
Y163C |
probably damaging |
Het |
| Acnat1 |
A |
T |
4: 49,449,142 (GRCm39) |
L208* |
probably null |
Het |
| Agbl5 |
A |
G |
5: 31,051,850 (GRCm39) |
E556G |
probably damaging |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Arih2 |
A |
G |
9: 108,521,473 (GRCm39) |
S2P |
probably damaging |
Het |
| C87436 |
T |
A |
6: 86,434,813 (GRCm39) |
L387Q |
probably damaging |
Het |
| Card9 |
A |
T |
2: 26,247,801 (GRCm39) |
Y183* |
probably null |
Het |
| Cdk14 |
T |
C |
5: 4,944,141 (GRCm39) |
D394G |
probably benign |
Het |
| Cep135 |
C |
T |
5: 76,784,746 (GRCm39) |
S947L |
probably damaging |
Het |
| Cfb |
T |
C |
17: 35,077,121 (GRCm39) |
K505E |
probably benign |
Het |
| Cnot4 |
T |
A |
6: 35,000,076 (GRCm39) |
D708V |
probably damaging |
Het |
| Col16a1 |
T |
A |
4: 129,948,244 (GRCm39) |
L281M |
unknown |
Het |
| Col6a3 |
G |
T |
1: 90,741,412 (GRCm39) |
D673E |
possibly damaging |
Het |
| Ctdnep1 |
G |
A |
11: 69,879,527 (GRCm39) |
S150N |
probably benign |
Het |
| Fanca |
T |
A |
8: 123,996,549 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,736,050 (GRCm39) |
N548K |
probably benign |
Het |
| Gbp2b |
A |
G |
3: 142,304,812 (GRCm39) |
M83V |
probably benign |
Het |
| Gbp2b |
C |
A |
3: 142,304,815 (GRCm39) |
P84T |
probably damaging |
Het |
| Gli2 |
A |
T |
1: 118,795,842 (GRCm39) |
|
probably benign |
Het |
| Greb1l |
A |
G |
18: 10,511,587 (GRCm39) |
|
probably benign |
Het |
| Grn |
A |
C |
11: 102,327,073 (GRCm39) |
K557T |
probably damaging |
Het |
| Hapln1 |
C |
T |
13: 89,749,563 (GRCm39) |
A36V |
probably benign |
Het |
| Heg1 |
C |
T |
16: 33,547,045 (GRCm39) |
R635W |
probably benign |
Het |
| Hivep1 |
C |
A |
13: 42,308,653 (GRCm39) |
Q298K |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,614,515 (GRCm39) |
I1297T |
probably damaging |
Het |
| Hp1bp3 |
T |
A |
4: 137,950,750 (GRCm39) |
|
probably benign |
Het |
| Htr4 |
C |
G |
18: 62,570,549 (GRCm39) |
F201L |
probably damaging |
Het |
| Insrr |
C |
G |
3: 87,707,791 (GRCm39) |
Q78E |
possibly damaging |
Het |
| Itga6 |
A |
T |
2: 71,686,297 (GRCm39) |
M1072L |
probably benign |
Het |
| Kdsr |
A |
G |
1: 106,675,216 (GRCm39) |
|
probably null |
Het |
| Klhl7 |
T |
C |
5: 24,339,965 (GRCm39) |
I149T |
probably damaging |
Het |
| Lce1l |
G |
C |
3: 92,757,766 (GRCm39) |
P31A |
unknown |
Het |
| Mag |
T |
C |
7: 30,610,894 (GRCm39) |
Y116C |
probably damaging |
Het |
| Mlec |
C |
A |
5: 115,288,266 (GRCm39) |
|
probably null |
Het |
| Mrap2 |
G |
A |
9: 87,051,712 (GRCm39) |
|
probably null |
Het |
| Myo5b |
A |
G |
18: 74,867,033 (GRCm39) |
K1395E |
probably damaging |
Het |
| Nipa2 |
G |
A |
7: 55,583,050 (GRCm39) |
Q232* |
probably null |
Het |
| Nsd3 |
C |
T |
8: 26,153,268 (GRCm39) |
T536M |
probably damaging |
Het |
| Oit3 |
T |
C |
10: 59,274,632 (GRCm39) |
N56S |
probably benign |
Het |
| Or10p22 |
A |
G |
10: 128,826,347 (GRCm39) |
T189A |
probably benign |
Het |
| Or13c7 |
A |
T |
4: 43,854,461 (GRCm39) |
I51F |
probably benign |
Het |
| Or2m13 |
T |
C |
16: 19,225,987 (GRCm39) |
M260V |
probably benign |
Het |
| Pax3 |
C |
T |
1: 78,172,006 (GRCm39) |
R68Q |
probably damaging |
Het |
| Pcnx2 |
G |
T |
8: 126,489,589 (GRCm39) |
H1668Q |
possibly damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,786,102 (GRCm39) |
S463G |
probably benign |
Het |
| Plb1 |
C |
T |
5: 32,485,829 (GRCm39) |
T871M |
probably damaging |
Het |
| Prdx1 |
A |
G |
4: 116,556,398 (GRCm39) |
D182G |
possibly damaging |
Het |
| Prkch |
T |
A |
12: 73,807,358 (GRCm39) |
F593I |
noncoding transcript |
Het |
| Psrc1 |
C |
T |
3: 108,293,673 (GRCm39) |
P194L |
probably benign |
Het |
| Ptp4a2 |
A |
T |
4: 129,733,427 (GRCm39) |
I18L |
probably benign |
Het |
| Samd10 |
A |
T |
2: 181,238,668 (GRCm39) |
L153H |
probably damaging |
Het |
| Shc3 |
T |
G |
13: 51,596,754 (GRCm39) |
H423P |
probably damaging |
Het |
| Siae |
A |
T |
9: 37,557,593 (GRCm39) |
I467F |
|
Het |
| Slc27a5 |
C |
T |
7: 12,725,214 (GRCm39) |
R411Q |
probably damaging |
Het |
| Spata24 |
A |
G |
18: 35,793,861 (GRCm39) |
I56T |
probably benign |
Het |
| Spns3 |
G |
A |
11: 72,390,534 (GRCm39) |
T407M |
probably damaging |
Het |
| Spta1 |
G |
A |
1: 174,067,777 (GRCm39) |
C2068Y |
probably damaging |
Het |
| Svs5 |
C |
A |
2: 164,080,091 (GRCm39) |
G25W |
probably damaging |
Het |
| Thsd7a |
T |
C |
6: 12,471,181 (GRCm39) |
D479G |
|
Het |
| Trhde |
T |
C |
10: 114,249,192 (GRCm39) |
Y858C |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,781,992 (GRCm39) |
R1057C |
unknown |
Het |
| Tulp4 |
G |
T |
17: 6,257,333 (GRCm39) |
|
probably null |
Het |
| Tyk2 |
T |
C |
9: 21,026,945 (GRCm39) |
T613A |
possibly damaging |
Het |
| Ugt2b37 |
T |
C |
5: 87,390,799 (GRCm39) |
K356R |
probably benign |
Het |
| Vmn1r39 |
A |
G |
6: 66,781,841 (GRCm39) |
V159A |
noncoding transcript |
Het |
| Vps35 |
A |
G |
8: 86,001,498 (GRCm39) |
V440A |
possibly damaging |
Het |
| Zmym6 |
A |
G |
4: 127,017,627 (GRCm39) |
N1136S |
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 |
|
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 |
|
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'- GTGTCCAGTATTTGCCAGAGC -3'
(R):5'- CCCTGTCAAATTCGTACATGGATAAG -3'
Sequencing Primer
(F):5'- AGGTTAGCCTGTCCACTAAGTCAG -3'
(R):5'- CACCTGATAGCATTGCGT -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation