Incidental Mutation 'R8052:Mast2'
ID |
619098 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mast2
|
Ensembl Gene |
ENSMUSG00000003810 |
Gene Name |
microtubule associated serine/threonine kinase 2 |
Synonyms |
MAST205, Mtssk |
MMRRC Submission |
067489-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8052 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
116163957-116321420 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 116170172 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 707
(R707H)
|
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: R639H
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000003908 Gene: ENSMUSG00000003810 AA Change: R639H
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: R646H
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102093 Gene: ENSMUSG00000003810 AA Change: R646H
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: R700H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000102094 Gene: ENSMUSG00000003810 AA Change: R700H
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: R707H
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102095 Gene: ENSMUSG00000003810 AA Change: R707H
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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi1 |
T |
C |
2: 22,843,555 (GRCm39) |
T297A |
probably benign |
Het |
Acadl |
G |
T |
1: 66,892,337 (GRCm39) |
T162K |
probably benign |
Het |
Aldoart2 |
A |
T |
12: 55,612,536 (GRCm39) |
I154F |
probably damaging |
Het |
Alkbh8 |
G |
A |
9: 3,385,478 (GRCm39) |
R625H |
probably damaging |
Het |
Ankrd31 |
T |
A |
13: 96,969,036 (GRCm39) |
V891E |
probably benign |
Het |
Aopep |
G |
A |
13: 63,216,065 (GRCm39) |
V446I |
probably damaging |
Het |
Atp8b5 |
C |
T |
4: 43,356,982 (GRCm39) |
R577* |
probably null |
Het |
Capn3 |
G |
T |
2: 120,316,867 (GRCm39) |
E285D |
probably benign |
Het |
Cd79b |
G |
T |
11: 106,204,526 (GRCm39) |
P87T |
probably damaging |
Het |
Celsr2 |
T |
G |
3: 108,319,971 (GRCm39) |
D947A |
probably damaging |
Het |
Csmd3 |
A |
C |
15: 47,569,783 (GRCm39) |
S1213R |
|
Het |
Cyp2j5 |
T |
C |
4: 96,552,241 (GRCm39) |
M3V |
probably benign |
Het |
Ddi1 |
C |
T |
9: 6,265,787 (GRCm39) |
R194K |
probably benign |
Het |
Decr1 |
T |
C |
4: 15,933,019 (GRCm39) |
K49R |
probably benign |
Het |
Dnah10 |
A |
C |
5: 124,905,575 (GRCm39) |
E4130A |
probably benign |
Het |
Dst |
A |
G |
1: 34,323,444 (GRCm39) |
D4648G |
probably damaging |
Het |
Ecd |
A |
G |
14: 20,380,020 (GRCm39) |
|
probably null |
Het |
Erbin |
A |
T |
13: 103,970,864 (GRCm39) |
Y917* |
probably null |
Het |
Evpl |
T |
C |
11: 116,113,989 (GRCm39) |
K1234E |
probably benign |
Het |
F11r |
T |
A |
1: 171,289,191 (GRCm39) |
Y218N |
possibly damaging |
Het |
Fam43a |
C |
G |
16: 30,420,622 (GRCm39) |
T402S |
probably benign |
Het |
Frem2 |
T |
C |
3: 53,457,064 (GRCm39) |
N2096S |
probably benign |
Het |
Gpd2 |
T |
A |
2: 57,196,962 (GRCm39) |
Y172* |
probably null |
Het |
Hscb |
A |
G |
5: 110,983,844 (GRCm39) |
V90A |
probably benign |
Het |
Iqgap2 |
T |
C |
13: 95,794,387 (GRCm39) |
D1195G |
probably damaging |
Het |
Map2k2 |
T |
C |
10: 80,950,900 (GRCm39) |
I115T |
probably damaging |
Het |
Mindy4 |
A |
G |
6: 55,277,977 (GRCm39) |
N607S |
probably damaging |
Het |
Mrpl9 |
T |
A |
3: 94,351,050 (GRCm39) |
Y77N |
probably damaging |
Het |
Muc16 |
G |
A |
9: 18,570,347 (GRCm39) |
T724I |
unknown |
Het |
Nat3 |
A |
T |
8: 68,000,478 (GRCm39) |
Y119F |
possibly damaging |
Het |
Nol7 |
T |
C |
13: 43,554,990 (GRCm39) |
S208P |
probably damaging |
Het |
Notch3 |
A |
T |
17: 32,365,545 (GRCm39) |
C1056S |
probably damaging |
Het |
Nup50l |
TCC |
TCCGCC |
6: 96,142,078 (GRCm39) |
|
probably benign |
Het |
Nup50l |
TCC |
TCCCCC |
6: 96,142,084 (GRCm39) |
|
probably benign |
Het |
Or13j1 |
A |
T |
4: 43,705,884 (GRCm39) |
V228E |
probably damaging |
Het |
Or3a4 |
T |
A |
11: 73,945,301 (GRCm39) |
I95F |
probably benign |
Het |
Or5al5 |
A |
T |
2: 85,961,721 (GRCm39) |
Y95* |
probably null |
Het |
Or8g17 |
G |
T |
9: 38,930,783 (GRCm39) |
T18K |
probably damaging |
Het |
Osbpl3 |
A |
C |
6: 50,322,995 (GRCm39) |
L288R |
probably damaging |
Het |
Oscp1 |
A |
C |
4: 125,982,116 (GRCm39) |
D352A |
possibly damaging |
Het |
Pcdh9 |
G |
A |
14: 94,123,222 (GRCm39) |
R983C |
probably benign |
Het |
Pcdhgb8 |
T |
C |
18: 37,896,555 (GRCm39) |
S542P |
probably benign |
Het |
Pi4ka |
T |
C |
16: 17,174,030 (GRCm39) |
T490A |
|
Het |
Pkd1l1 |
A |
T |
11: 8,897,315 (GRCm39) |
D531E |
|
Het |
Potefam3d |
A |
T |
8: 69,975,404 (GRCm39) |
Y21N |
possibly damaging |
Het |
Prr3 |
G |
T |
17: 36,290,053 (GRCm39) |
D26E |
possibly damaging |
Het |
Psmd8 |
T |
C |
7: 28,880,001 (GRCm39) |
K24E |
probably benign |
Het |
Rasgrp4 |
G |
A |
7: 28,849,362 (GRCm39) |
C583Y |
probably damaging |
Het |
Rest |
A |
G |
5: 77,416,171 (GRCm39) |
I128M |
probably benign |
Het |
Rftn1 |
A |
T |
17: 50,393,607 (GRCm39) |
F144I |
probably damaging |
Het |
Rusc2 |
T |
C |
4: 43,421,851 (GRCm39) |
F757S |
probably benign |
Het |
Ryr1 |
A |
G |
7: 28,782,810 (GRCm39) |
S1942P |
probably benign |
Het |
Sdk2 |
C |
T |
11: 113,745,177 (GRCm39) |
R706Q |
probably damaging |
Het |
Sergef |
G |
T |
7: 46,264,062 (GRCm39) |
T275K |
probably damaging |
Het |
Serpina10 |
T |
C |
12: 103,594,569 (GRCm39) |
T217A |
probably damaging |
Het |
Shd |
G |
C |
17: 56,283,235 (GRCm39) |
S288T |
probably damaging |
Het |
Siglec15 |
C |
A |
18: 78,091,803 (GRCm39) |
A133S |
possibly damaging |
Het |
Stat4 |
C |
T |
1: 52,118,932 (GRCm39) |
P325L |
probably damaging |
Het |
Syt8 |
G |
A |
7: 141,993,881 (GRCm39) |
G344D |
probably damaging |
Het |
Tes |
A |
G |
6: 17,097,291 (GRCm39) |
E133G |
probably benign |
Het |
Tmprss2 |
T |
C |
16: 97,369,616 (GRCm39) |
Y386C |
probably damaging |
Het |
Tnfrsf11b |
A |
T |
15: 54,115,502 (GRCm39) |
L365Q |
probably damaging |
Het |
Tns1 |
T |
A |
1: 73,992,596 (GRCm39) |
D67V |
probably damaging |
Het |
Tns2 |
T |
C |
15: 102,021,280 (GRCm39) |
S982P |
probably damaging |
Het |
Tpcn2 |
A |
T |
7: 144,814,683 (GRCm39) |
F473I |
probably benign |
Het |
Tsg101 |
A |
T |
7: 46,542,257 (GRCm39) |
I232N |
probably damaging |
Het |
Ttc3 |
T |
C |
16: 94,268,848 (GRCm39) |
S1977P |
probably benign |
Het |
Ttll11 |
T |
A |
2: 35,869,527 (GRCm39) |
E37V |
unknown |
Het |
Ttn |
A |
T |
2: 76,649,160 (GRCm39) |
V12716E |
possibly damaging |
Het |
Vmn2r70 |
A |
C |
7: 85,212,923 (GRCm39) |
S495A |
probably benign |
Het |
Zfp974 |
A |
G |
7: 27,610,697 (GRCm39) |
C343R |
probably damaging |
Het |
Zfy1 |
A |
T |
Y: 726,004 (GRCm39) |
I587N |
possibly 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 |
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'- AGATGTGTGCACAGACACAC -3'
(R):5'- CTGATCCCTGGGATTGATGATG -3'
Sequencing Primer
(F):5'- AAGAGCCTCCCAGCTGTGTG -3'
(R):5'- ATGTTGTTATTAGTAAGGTAAGCTGC -3'
|
Posted On |
2020-01-23 |