Incidental Mutation 'R7084:Mast3'
ID |
549757 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mast3
|
Ensembl Gene |
ENSMUSG00000031833 |
Gene Name |
microtubule associated serine/threonine kinase 3 |
Synonyms |
|
MMRRC Submission |
045178-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7084 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
71230761-71257681 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 71232117 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 1287
(I1287V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148686
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034296]
[ENSMUST00000166004]
[ENSMUST00000211948]
|
AlphaFold |
Q3U214 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034296
|
SMART Domains |
Protein: ENSMUSP00000034296 Gene: ENSMUSG00000031834
Domain | Start | End | E-Value | Type |
SH3
|
7 |
79 |
4e-7 |
SMART |
RhoGAP
|
122 |
286 |
2.36e-18 |
SMART |
low complexity region
|
291 |
311 |
N/A |
INTRINSIC |
SH2
|
322 |
405 |
4.51e-26 |
SMART |
Pfam:PI3K_P85_iSH2
|
422 |
590 |
1.7e-64 |
PFAM |
SH2
|
614 |
696 |
9.96e-28 |
SMART |
low complexity region
|
713 |
718 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154685
|
SMART Domains |
Protein: ENSMUSP00000121463 Gene: ENSMUSG00000031834
Domain | Start | End | E-Value | Type |
PDB:2XS6|A
|
43 |
84 |
3e-11 |
PDB |
SCOP:d1pbwa_
|
47 |
79 |
6e-9 |
SMART |
Blast:RhoGAP
|
58 |
84 |
4e-9 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166004
AA Change: I1303V
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000128703 Gene: ENSMUSG00000031833 AA Change: I1303V
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: I1287V
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212140
|
Meta Mutation Damage Score |
0.0706 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
99% (81/82) |
Allele List at MGI |
All alleles(2) : Targeted(1) Gene trapped(1)
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110070M22Rik |
A |
T |
13: 119,624,721 (GRCm39) |
D8E |
unknown |
Het |
Abca5 |
T |
A |
11: 110,192,371 (GRCm39) |
I714L |
probably benign |
Het |
Abce1 |
T |
A |
8: 80,426,043 (GRCm39) |
S245C |
probably benign |
Het |
Abcg1 |
T |
A |
17: 31,325,105 (GRCm39) |
D310E |
probably benign |
Het |
Adhfe1 |
T |
A |
1: 9,637,030 (GRCm39) |
I394N |
probably benign |
Het |
Apob |
A |
T |
12: 8,059,591 (GRCm39) |
D2691V |
probably benign |
Het |
Arhgap18 |
A |
G |
10: 26,748,734 (GRCm39) |
T340A |
possibly damaging |
Het |
Arsb |
A |
T |
13: 94,077,124 (GRCm39) |
Q497L |
probably benign |
Het |
Asic5 |
T |
C |
3: 81,919,318 (GRCm39) |
I354T |
probably benign |
Het |
Atp6v0a1 |
T |
C |
11: 100,924,868 (GRCm39) |
C318R |
probably damaging |
Het |
Cftr |
T |
C |
6: 18,226,137 (GRCm39) |
Y362H |
probably benign |
Het |
Crip3 |
T |
C |
17: 46,741,716 (GRCm39) |
Y113H |
probably benign |
Het |
Dcaf4 |
AT |
A |
12: 83,584,571 (GRCm39) |
|
probably null |
Het |
Dock10 |
T |
A |
1: 80,481,573 (GRCm39) |
I475F |
|
Het |
Dqx1 |
T |
A |
6: 83,043,436 (GRCm39) |
Y674N |
probably damaging |
Het |
Dync2h1 |
G |
T |
9: 7,113,214 (GRCm39) |
Q2437K |
possibly damaging |
Het |
Ednra |
A |
T |
8: 78,391,734 (GRCm39) |
C385* |
probably null |
Het |
Fam216a |
G |
A |
5: 122,507,623 (GRCm39) |
T68I |
probably benign |
Het |
Fbxw22 |
A |
G |
9: 109,233,291 (GRCm39) |
L14P |
probably damaging |
Het |
Fem1al |
G |
T |
11: 29,775,009 (GRCm39) |
H149Q |
probably damaging |
Het |
Fkbp10 |
A |
G |
11: 100,312,129 (GRCm39) |
I230V |
possibly damaging |
Het |
Ggn |
C |
A |
7: 28,872,423 (GRCm39) |
A637E |
probably damaging |
Het |
Hcrtr2 |
T |
C |
9: 76,137,942 (GRCm39) |
D391G |
probably benign |
Het |
Heatr5b |
A |
T |
17: 79,117,992 (GRCm39) |
V817D |
possibly damaging |
Het |
Il1f10 |
G |
A |
2: 24,183,682 (GRCm39) |
W120* |
probably null |
Het |
Irf5 |
C |
A |
6: 29,535,876 (GRCm39) |
R297S |
probably damaging |
Het |
Jak2 |
A |
G |
19: 29,263,798 (GRCm39) |
T438A |
possibly damaging |
Het |
Jsrp1 |
T |
C |
10: 80,644,410 (GRCm39) |
D332G |
possibly damaging |
Het |
Kank4 |
A |
T |
4: 98,659,582 (GRCm39) |
V832D |
probably damaging |
Het |
Kcnip3 |
C |
T |
2: 127,352,856 (GRCm39) |
S25N |
probably benign |
Het |
Klk1b16 |
C |
T |
7: 43,788,910 (GRCm39) |
H48Y |
probably benign |
Het |
Klrh1 |
C |
A |
6: 129,743,673 (GRCm39) |
A204S |
possibly damaging |
Het |
Krtap5-4 |
G |
A |
7: 141,857,609 (GRCm39) |
C93Y |
unknown |
Het |
Lacc1 |
T |
A |
14: 77,267,096 (GRCm39) |
Q389L |
probably benign |
Het |
Lin9 |
C |
A |
1: 180,515,661 (GRCm39) |
T477K |
probably benign |
Het |
Lpar2 |
A |
T |
8: 70,276,256 (GRCm39) |
N15I |
probably damaging |
Het |
Ltbp2 |
C |
A |
12: 84,915,459 (GRCm39) |
C200F |
probably damaging |
Het |
Mall |
G |
T |
2: 127,550,793 (GRCm39) |
H122Q |
probably benign |
Het |
Mindy4 |
T |
C |
6: 55,255,220 (GRCm39) |
I566T |
probably benign |
Het |
Mme |
T |
C |
3: 63,235,638 (GRCm39) |
Y195H |
probably damaging |
Het |
Mpzl1 |
T |
C |
1: 165,432,267 (GRCm39) |
T173A |
probably benign |
Het |
Mri1 |
G |
T |
8: 84,977,708 (GRCm39) |
T209N |
|
Het |
Myo1e |
A |
G |
9: 70,245,083 (GRCm39) |
I394V |
probably damaging |
Het |
Nat14 |
T |
C |
7: 4,927,329 (GRCm39) |
V167A |
possibly damaging |
Het |
Nfasc |
A |
G |
1: 132,498,247 (GRCm39) |
Y1212H |
unknown |
Het |
Nsun7 |
T |
A |
5: 66,452,764 (GRCm39) |
L493Q |
probably damaging |
Het |
Obsl1 |
A |
T |
1: 75,464,394 (GRCm39) |
S1637R |
probably benign |
Het |
Ocstamp |
A |
T |
2: 165,239,957 (GRCm39) |
Y76* |
probably null |
Het |
Or5b95 |
A |
C |
19: 12,658,198 (GRCm39) |
H242P |
probably damaging |
Het |
Or6c2b |
T |
A |
10: 128,947,416 (GRCm39) |
K293* |
probably null |
Het |
Or8b52 |
G |
A |
9: 38,576,565 (GRCm39) |
R192C |
probably benign |
Het |
Otog |
T |
A |
7: 45,947,990 (GRCm39) |
C145* |
probably null |
Het |
Padi6 |
T |
A |
4: 140,468,869 (GRCm39) |
K5* |
probably null |
Het |
Pcdha5 |
T |
A |
18: 37,094,615 (GRCm39) |
S375T |
probably benign |
Het |
Pde10a |
C |
T |
17: 9,159,994 (GRCm39) |
P140S |
probably benign |
Het |
Pgbd1 |
C |
G |
13: 21,607,300 (GRCm39) |
C298S |
possibly damaging |
Het |
Plch2 |
C |
T |
4: 155,071,448 (GRCm39) |
G977D |
probably benign |
Het |
Pou2f3 |
T |
C |
9: 43,040,188 (GRCm39) |
T367A |
probably damaging |
Het |
Ppm1j |
T |
A |
3: 104,692,276 (GRCm39) |
Y352N |
probably damaging |
Het |
Prkag2 |
T |
C |
5: 25,226,967 (GRCm39) |
T97A |
probably benign |
Het |
Rpl36a-ps1 |
T |
A |
14: 99,231,660 (GRCm39) |
Y26F |
probably benign |
Het |
Sctr |
A |
T |
1: 119,991,001 (GRCm39) |
N445Y |
possibly damaging |
Het |
Serping1 |
C |
T |
2: 84,603,835 (GRCm39) |
V69I |
probably benign |
Het |
Slc8a2 |
T |
A |
7: 15,878,963 (GRCm39) |
L483Q |
probably benign |
Het |
Spag17 |
T |
C |
3: 99,846,586 (GRCm39) |
F37L |
probably benign |
Het |
Srrm2 |
T |
A |
17: 24,039,290 (GRCm39) |
M1978K |
probably damaging |
Het |
Tcp11 |
T |
C |
17: 28,285,995 (GRCm39) |
Q540R |
probably benign |
Het |
Thnsl1 |
G |
T |
2: 21,217,141 (GRCm39) |
R298S |
possibly damaging |
Het |
Tigd5 |
T |
A |
15: 75,782,230 (GRCm39) |
Y197* |
probably null |
Het |
Tmprss11g |
A |
T |
5: 86,640,059 (GRCm39) |
L203Q |
probably damaging |
Het |
Trim35 |
T |
A |
14: 66,546,271 (GRCm39) |
V346E |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,598,708 (GRCm39) |
I19402V |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,749,689 (GRCm39) |
E3787K |
probably benign |
Het |
Tut1 |
G |
A |
19: 8,942,778 (GRCm39) |
V622I |
probably benign |
Het |
Vmn1r2 |
A |
G |
4: 3,172,134 (GRCm39) |
I18V |
probably benign |
Het |
Zbbx |
T |
C |
3: 75,046,853 (GRCm39) |
N22S |
possibly damaging |
Het |
Zfp169 |
A |
C |
13: 48,652,339 (GRCm39) |
M26R |
probably benign |
Het |
Zfp180 |
T |
A |
7: 23,804,686 (GRCm39) |
H368Q |
probably damaging |
Het |
Zfp638 |
T |
A |
6: 83,930,108 (GRCm39) |
S770T |
possibly damaging |
Het |
Znrf1 |
T |
C |
8: 112,263,774 (GRCm39) |
M1T |
probably null |
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 |
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 |
|
R8021:Mast3
|
UTSW |
8 |
71,240,896 (GRCm39) |
missense |
probably benign |
0.02 |
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'- ATTTACAAGTCACTGGCACCC -3'
(R):5'- AAGCAGTATCCCTCCATCTCCG -3'
Sequencing Primer
(F):5'- GTCACTGGCACCCCCATC -3'
(R):5'- TCTCCTAGGCTGCGTAGG -3'
|
Posted On |
2019-05-15 |