Incidental Mutation 'R8021:Mast3'
| ID |
617369 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mast3
|
| Ensembl Gene |
ENSMUSG00000031833 |
| Gene Name |
microtubule associated serine/threonine kinase 3 |
| Synonyms |
|
| MMRRC Submission |
067460-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8021 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71230761-71257681 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 71240896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 218
(G218S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166004]
[ENSMUST00000211948]
[ENSMUST00000212001]
[ENSMUST00000212038]
[ENSMUST00000212551]
[ENSMUST00000212673]
[ENSMUST00000212757]
[ENSMUST00000212875]
|
| AlphaFold |
Q3U214 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166004
AA Change: G234S
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000128703
Gene: ENSMUSG00000031833
AA Change: G234S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
59 |
N/A |
INTRINSIC |
|
Pfam:DUF1908
|
64 |
337 |
4.4e-128 |
PFAM |
|
S_TKc
|
373 |
646 |
2.77e-99 |
SMART |
|
S_TK_X
|
647 |
710 |
2.39e-1 |
SMART |
|
low complexity region
|
820 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
942 |
N/A |
INTRINSIC |
|
PDZ
|
958 |
1038 |
3.8e-15 |
SMART |
|
low complexity region
|
1053 |
1074 |
N/A |
INTRINSIC |
|
low complexity region
|
1089 |
1121 |
N/A |
INTRINSIC |
|
low complexity region
|
1124 |
1150 |
N/A |
INTRINSIC |
|
low complexity region
|
1180 |
1204 |
N/A |
INTRINSIC |
|
low complexity region
|
1231 |
1248 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211948
AA Change: G218S
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212001
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212038
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212140
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212551
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212673
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212757
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212875
|
| Meta Mutation Damage Score |
0.1528 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (74/76) |
| Allele List at MGI |
All alleles(2) : Targeted(1) Gene trapped(1)
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810010H24Rik |
A |
G |
11: 106,916,753 (GRCm39) |
I12V |
unknown |
Het |
| A630010A05Rik |
C |
T |
16: 14,407,110 (GRCm39) |
T13I |
|
Het |
| Acsm5 |
A |
G |
7: 119,141,616 (GRCm39) |
E537G |
possibly damaging |
Het |
| Adam25 |
C |
A |
8: 41,207,796 (GRCm39) |
A354E |
probably damaging |
Het |
| Adamts3 |
T |
C |
5: 89,831,043 (GRCm39) |
K1004E |
possibly damaging |
Het |
| Ap3d1 |
C |
A |
10: 80,550,135 (GRCm39) |
V699L |
probably benign |
Het |
| Arel1 |
T |
G |
12: 84,981,732 (GRCm39) |
H216P |
possibly damaging |
Het |
| Armc12 |
T |
A |
17: 28,749,879 (GRCm39) |
F8I |
probably benign |
Het |
| Armh3 |
C |
T |
19: 45,945,180 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
A |
10: 50,607,744 (GRCm39) |
M1416K |
probably benign |
Het |
| Catsperb |
A |
C |
12: 101,554,322 (GRCm39) |
N672T |
probably benign |
Het |
| Ccdc30 |
T |
C |
4: 119,209,876 (GRCm39) |
H291R |
probably benign |
Het |
| Cd33 |
A |
G |
7: 43,178,262 (GRCm39) |
V371A |
unknown |
Het |
| Cpt1b |
A |
T |
15: 89,305,629 (GRCm39) |
M362K |
probably benign |
Het |
| Dusp5 |
T |
A |
19: 53,517,929 (GRCm39) |
S61T |
probably benign |
Het |
| Eogt |
T |
G |
6: 97,111,291 (GRCm39) |
D190A |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,910,405 (GRCm39) |
I1866F |
probably damaging |
Het |
| Fer1l4 |
T |
A |
2: 155,864,511 (GRCm39) |
I1668F |
probably damaging |
Het |
| Foxn3 |
A |
T |
12: 99,355,161 (GRCm39) |
M1K |
probably null |
Het |
| Frs3 |
T |
A |
17: 48,014,039 (GRCm39) |
V244E |
probably damaging |
Het |
| Grik1 |
C |
T |
16: 87,711,110 (GRCm39) |
V832I |
|
Het |
| Gtf2ird2 |
T |
A |
5: 134,232,175 (GRCm39) |
V242E |
probably benign |
Het |
| Gtpbp2 |
C |
T |
17: 46,475,195 (GRCm39) |
R97C |
possibly damaging |
Het |
| Habp2 |
T |
A |
19: 56,302,485 (GRCm39) |
V263E |
probably benign |
Het |
| Iars2 |
T |
A |
1: 185,054,654 (GRCm39) |
I337L |
probably benign |
Het |
| Ifi204 |
T |
C |
1: 173,586,919 (GRCm39) |
|
probably benign |
Het |
| Itih2 |
T |
C |
2: 10,110,463 (GRCm39) |
T543A |
probably benign |
Het |
| Kdm2b |
A |
G |
5: 123,070,982 (GRCm39) |
S372P |
probably damaging |
Het |
| Kit |
T |
A |
5: 75,776,151 (GRCm39) |
V311E |
possibly damaging |
Het |
| Kmt2c |
C |
G |
5: 25,492,117 (GRCm39) |
V4230L |
possibly damaging |
Het |
| Lao1 |
T |
C |
4: 118,825,674 (GRCm39) |
I498T |
probably damaging |
Het |
| Lrp1 |
G |
T |
10: 127,384,215 (GRCm39) |
D3641E |
possibly damaging |
Het |
| Mapk8ip1 |
A |
T |
2: 92,216,760 (GRCm39) |
S477T |
possibly damaging |
Het |
| Mical1 |
T |
C |
10: 41,358,720 (GRCm39) |
V546A |
probably damaging |
Het |
| Nck2 |
T |
C |
1: 43,593,420 (GRCm39) |
V209A |
probably benign |
Het |
| Ndufs4 |
A |
G |
13: 114,444,351 (GRCm39) |
|
probably null |
Het |
| Nek3 |
C |
T |
8: 22,647,206 (GRCm39) |
V139M |
probably damaging |
Het |
| Or10v5 |
T |
C |
19: 11,806,256 (GRCm39) |
I45V |
probably benign |
Het |
| Or5ak24 |
A |
T |
2: 85,260,996 (GRCm39) |
M59K |
probably damaging |
Het |
| Or7e171-ps1 |
A |
C |
9: 19,853,375 (GRCm39) |
Y120* |
probably null |
Het |
| Or8b9 |
T |
A |
9: 37,766,592 (GRCm39) |
H159Q |
probably damaging |
Het |
| Otog |
A |
T |
7: 45,916,766 (GRCm39) |
N901I |
probably damaging |
Het |
| Pclo |
A |
C |
5: 14,589,798 (GRCm39) |
Q699H |
unknown |
Het |
| Pcnx1 |
C |
T |
12: 81,965,593 (GRCm39) |
R59* |
probably null |
Het |
| Pde12 |
A |
T |
14: 26,386,854 (GRCm39) |
Y551* |
probably null |
Het |
| Pigg |
A |
G |
5: 108,467,805 (GRCm39) |
D268G |
probably damaging |
Het |
| Ppp1r21 |
A |
G |
17: 88,856,935 (GRCm39) |
D130G |
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,378,192 (GRCm39) |
T435A |
possibly damaging |
Het |
| Rad54l2 |
T |
C |
9: 106,596,840 (GRCm39) |
S189G |
probably benign |
Het |
| Rgs14 |
T |
C |
13: 55,531,569 (GRCm39) |
C498R |
probably damaging |
Het |
| Ripply3 |
C |
A |
16: 94,129,369 (GRCm39) |
A5E |
probably benign |
Het |
| Rps6ka4 |
T |
C |
19: 6,807,777 (GRCm39) |
D676G |
probably benign |
Het |
| Rsbn1 |
T |
C |
3: 103,835,898 (GRCm39) |
L312S |
possibly damaging |
Het |
| Secisbp2 |
T |
A |
13: 51,819,664 (GRCm39) |
*415R |
probably null |
Het |
| Sephs1 |
T |
A |
2: 4,911,434 (GRCm39) |
F336Y |
probably benign |
Het |
| Setdb2 |
A |
T |
14: 59,660,833 (GRCm39) |
Y103* |
probably null |
Het |
| Slit2 |
T |
A |
5: 48,459,834 (GRCm39) |
C1371* |
probably null |
Het |
| Spata31e4 |
A |
G |
13: 50,855,130 (GRCm39) |
N256S |
possibly damaging |
Het |
| Stab2 |
C |
T |
10: 86,741,403 (GRCm39) |
A1239T |
possibly damaging |
Het |
| Taf4b |
T |
A |
18: 14,937,581 (GRCm39) |
V218E |
probably damaging |
Het |
| Tars2 |
T |
C |
3: 95,654,826 (GRCm39) |
N393S |
probably benign |
Het |
| Tbc1d30 |
A |
G |
10: 121,103,448 (GRCm39) |
M528T |
probably benign |
Het |
| Tchp |
A |
G |
5: 114,856,478 (GRCm39) |
E363G |
probably damaging |
Het |
| Tec |
T |
A |
5: 72,914,812 (GRCm39) |
N568I |
probably benign |
Het |
| Ticam1 |
A |
G |
17: 56,577,089 (GRCm39) |
S669P |
unknown |
Het |
| Tnk1 |
A |
G |
11: 69,745,810 (GRCm39) |
S372P |
probably benign |
Het |
| Tnpo2 |
G |
A |
8: 85,781,835 (GRCm39) |
A847T |
probably damaging |
Het |
| Tsc1 |
A |
T |
2: 28,576,901 (GRCm39) |
I1068F |
possibly damaging |
Het |
| Ttc14 |
T |
A |
3: 33,863,270 (GRCm39) |
Y559* |
probably null |
Het |
| Ttc41 |
C |
A |
10: 86,569,578 (GRCm39) |
T652N |
probably benign |
Het |
| Tut1 |
T |
A |
19: 8,932,873 (GRCm39) |
S69T |
probably benign |
Het |
| Uck1 |
T |
C |
2: 32,149,929 (GRCm39) |
S40G |
probably benign |
Het |
| Vmn2r76 |
G |
A |
7: 85,874,958 (GRCm39) |
T673I |
probably damaging |
Het |
| Vps13d |
G |
T |
4: 144,875,245 (GRCm39) |
P1760H |
|
Het |
| Zbp1 |
T |
C |
2: 173,051,003 (GRCm39) |
N289S |
possibly damaging |
Het |
| Zc3hav1l |
C |
A |
6: 38,274,882 (GRCm39) |
|
probably benign |
Het |
| Zzef1 |
A |
T |
11: 72,714,242 (GRCm39) |
D244V |
probably damaging |
Het |
|
| Other mutations in Mast3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:Mast3
|
APN |
8 |
71,233,327 (GRCm39) |
splice site |
probably benign |
|
|
IGL01411:Mast3
|
APN |
8 |
71,232,227 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01475:Mast3
|
APN |
8 |
71,232,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01886:Mast3
|
APN |
8 |
71,234,783 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02104:Mast3
|
APN |
8 |
71,240,550 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02236:Mast3
|
APN |
8 |
71,241,888 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02437:Mast3
|
APN |
8 |
71,233,202 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02704:Mast3
|
APN |
8 |
71,239,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03155:Mast3
|
APN |
8 |
71,241,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03366:Mast3
|
APN |
8 |
71,234,207 (GRCm39) |
nonsense |
probably null |
|
|
gravy
|
UTSW |
8 |
71,239,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
stuffing
|
UTSW |
8 |
71,237,441 (GRCm39) |
frame shift |
probably null |
|
|
turkey
|
UTSW |
8 |
71,238,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB010:Mast3
|
UTSW |
8 |
71,239,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB020:Mast3
|
UTSW |
8 |
71,239,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0037:Mast3
|
UTSW |
8 |
71,236,343 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0280:Mast3
|
UTSW |
8 |
71,240,564 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0280:Mast3
|
UTSW |
8 |
71,236,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0731:Mast3
|
UTSW |
8 |
71,233,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1101:Mast3
|
UTSW |
8 |
71,239,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1177:Mast3
|
UTSW |
8 |
71,232,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1208:Mast3
|
UTSW |
8 |
71,240,916 (GRCm39) |
splice site |
probably null |
|
|
R1208:Mast3
|
UTSW |
8 |
71,240,916 (GRCm39) |
splice site |
probably null |
|
|
R1333:Mast3
|
UTSW |
8 |
71,233,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1543:Mast3
|
UTSW |
8 |
71,244,955 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1544:Mast3
|
UTSW |
8 |
71,238,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1738:Mast3
|
UTSW |
8 |
71,237,200 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1842:Mast3
|
UTSW |
8 |
71,233,037 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1936:Mast3
|
UTSW |
8 |
71,237,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2015:Mast3
|
UTSW |
8 |
71,240,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2219:Mast3
|
UTSW |
8 |
71,233,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2220:Mast3
|
UTSW |
8 |
71,233,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3711:Mast3
|
UTSW |
8 |
71,232,251 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3919:Mast3
|
UTSW |
8 |
71,232,066 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4027:Mast3
|
UTSW |
8 |
71,240,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4060:Mast3
|
UTSW |
8 |
71,233,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4061:Mast3
|
UTSW |
8 |
71,233,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4062:Mast3
|
UTSW |
8 |
71,233,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4063:Mast3
|
UTSW |
8 |
71,233,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4588:Mast3
|
UTSW |
8 |
71,233,251 (GRCm39) |
nonsense |
probably null |
|
|
R4672:Mast3
|
UTSW |
8 |
71,237,441 (GRCm39) |
frame shift |
probably null |
|
|
R4770:Mast3
|
UTSW |
8 |
71,238,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4822:Mast3
|
UTSW |
8 |
71,233,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4830:Mast3
|
UTSW |
8 |
71,241,559 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5196:Mast3
|
UTSW |
8 |
71,240,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5333:Mast3
|
UTSW |
8 |
71,236,145 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5428:Mast3
|
UTSW |
8 |
71,237,377 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5656:Mast3
|
UTSW |
8 |
71,238,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5920:Mast3
|
UTSW |
8 |
71,240,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6177:Mast3
|
UTSW |
8 |
71,242,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6186:Mast3
|
UTSW |
8 |
71,238,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6407:Mast3
|
UTSW |
8 |
71,234,772 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6614:Mast3
|
UTSW |
8 |
71,234,610 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6804:Mast3
|
UTSW |
8 |
71,239,376 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6873:Mast3
|
UTSW |
8 |
71,239,236 (GRCm39) |
nonsense |
probably null |
|
|
R6930:Mast3
|
UTSW |
8 |
71,252,115 (GRCm39) |
nonsense |
probably null |
|
|
R6948:Mast3
|
UTSW |
8 |
71,238,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7084:Mast3
|
UTSW |
8 |
71,232,117 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7253:Mast3
|
UTSW |
8 |
71,242,326 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7316:Mast3
|
UTSW |
8 |
71,232,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7357:Mast3
|
UTSW |
8 |
71,237,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7405:Mast3
|
UTSW |
8 |
71,238,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7429:Mast3
|
UTSW |
8 |
71,232,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7430:Mast3
|
UTSW |
8 |
71,232,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7521:Mast3
|
UTSW |
8 |
71,241,412 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7576:Mast3
|
UTSW |
8 |
71,233,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7933:Mast3
|
UTSW |
8 |
71,239,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7998:Mast3
|
UTSW |
8 |
71,236,214 (GRCm39) |
missense |
probably benign |
|
|
R8204:Mast3
|
UTSW |
8 |
71,240,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8327:Mast3
|
UTSW |
8 |
71,232,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8357:Mast3
|
UTSW |
8 |
71,233,085 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8415:Mast3
|
UTSW |
8 |
71,233,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8457:Mast3
|
UTSW |
8 |
71,233,085 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8530:Mast3
|
UTSW |
8 |
71,240,877 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8891:Mast3
|
UTSW |
8 |
71,233,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8930:Mast3
|
UTSW |
8 |
71,234,377 (GRCm39) |
splice site |
probably benign |
|
|
R9002:Mast3
|
UTSW |
8 |
71,233,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9085:Mast3
|
UTSW |
8 |
71,249,361 (GRCm39) |
missense |
unknown |
|
|
R9087:Mast3
|
UTSW |
8 |
71,242,330 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9148:Mast3
|
UTSW |
8 |
71,233,091 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9364:Mast3
|
UTSW |
8 |
71,238,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9779:Mast3
|
UTSW |
8 |
71,238,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mast3
|
UTSW |
8 |
71,241,682 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTATAGGGGACAGCCATG -3'
(R):5'- AGACTTCTGGACTGTCCTCTGATC -3'
Sequencing Primer
(F):5'- ATGGCTCCGCAGACTCCAC -3'
(R):5'- GGACTGTCCTCTGATCCATTTCTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation