Incidental Mutation 'R4027:Mast3'
ID |
313038 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mast3
|
Ensembl Gene |
ENSMUSG00000031833 |
Gene Name |
microtubule associated serine/threonine kinase 3 |
Synonyms |
|
MMRRC Submission |
040850-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4027 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
71230761-71257681 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 71240552 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 279
(L279P)
|
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 damaging
Transcript: ENSMUST00000166004
AA Change: L295P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128703 Gene: ENSMUSG00000031833 AA Change: L295P
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 |
noncoding transcript
Transcript: ENSMUST00000211841
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000211948
AA Change: L279P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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 |
0.9680 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
97% (60/62) |
Allele List at MGI |
All alleles(2) : Targeted(1) Gene trapped(1)
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930402F06Rik |
A |
G |
2: 35,270,408 (GRCm39) |
F98L |
probably damaging |
Het |
Adam26b |
T |
C |
8: 43,973,409 (GRCm39) |
N531S |
probably benign |
Het |
Ahdc1 |
T |
C |
4: 132,791,476 (GRCm39) |
S906P |
possibly damaging |
Het |
Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
Ano10 |
A |
G |
9: 122,081,994 (GRCm39) |
|
probably benign |
Het |
Atp4a |
T |
C |
7: 30,424,377 (GRCm39) |
|
probably null |
Het |
C030005K15Rik |
T |
C |
10: 97,561,404 (GRCm39) |
Y109C |
unknown |
Het |
Carmil1 |
T |
A |
13: 24,251,206 (GRCm39) |
|
probably benign |
Het |
Ccl2 |
A |
G |
11: 81,927,885 (GRCm39) |
R110G |
probably benign |
Het |
Cntnap2 |
C |
A |
6: 46,833,062 (GRCm39) |
F758L |
probably benign |
Het |
Cog6 |
A |
C |
3: 52,909,950 (GRCm39) |
D267E |
possibly damaging |
Het |
Cyp4f37 |
G |
T |
17: 32,850,646 (GRCm39) |
E366D |
probably benign |
Het |
Dcun1d4 |
A |
G |
5: 73,691,980 (GRCm39) |
D89G |
probably damaging |
Het |
Dpep1 |
T |
C |
8: 123,920,892 (GRCm39) |
V24A |
probably benign |
Het |
Eefsec |
T |
C |
6: 88,353,232 (GRCm39) |
I48V |
probably benign |
Het |
Elmo2 |
G |
A |
2: 165,136,169 (GRCm39) |
Q195* |
probably null |
Het |
Ephb3 |
A |
G |
16: 21,040,447 (GRCm39) |
D561G |
probably damaging |
Het |
Erich2 |
C |
A |
2: 70,343,134 (GRCm39) |
|
probably benign |
Het |
Gatm |
A |
G |
2: 122,427,927 (GRCm39) |
V362A |
probably damaging |
Het |
Gdf10 |
A |
G |
14: 33,654,572 (GRCm39) |
M360V |
probably damaging |
Het |
Gpr141 |
T |
C |
13: 19,935,995 (GRCm39) |
N260S |
probably benign |
Het |
Hectd1 |
T |
A |
12: 51,849,219 (GRCm39) |
|
probably null |
Het |
Insrr |
A |
G |
3: 87,716,906 (GRCm39) |
E682G |
probably benign |
Het |
Itgax |
A |
G |
7: 127,740,438 (GRCm39) |
I742V |
possibly damaging |
Het |
Kcnh1 |
T |
C |
1: 191,959,007 (GRCm39) |
V187A |
probably benign |
Het |
Kdm6b |
G |
T |
11: 69,297,094 (GRCm39) |
S419R |
possibly damaging |
Het |
Kmt2a |
A |
T |
9: 44,747,990 (GRCm39) |
|
probably benign |
Het |
Krt10 |
A |
G |
11: 99,277,019 (GRCm39) |
|
probably benign |
Het |
Lct |
G |
A |
1: 128,212,918 (GRCm39) |
R1912C |
probably benign |
Het |
Lefty1 |
T |
C |
1: 180,765,346 (GRCm39) |
S305P |
probably benign |
Het |
Mfsd4b3-ps |
T |
C |
10: 39,823,343 (GRCm39) |
T306A |
probably benign |
Het |
Mgam |
G |
A |
6: 40,731,836 (GRCm39) |
R1351Q |
probably damaging |
Het |
Mknk1 |
T |
A |
4: 115,721,758 (GRCm39) |
F101I |
probably damaging |
Het |
Mlc1 |
T |
C |
15: 88,850,697 (GRCm39) |
I154V |
probably benign |
Het |
Myo5b |
T |
C |
18: 74,892,311 (GRCm39) |
I1685T |
possibly damaging |
Het |
Nacc2 |
T |
A |
2: 25,950,348 (GRCm39) |
M463L |
probably benign |
Het |
Nek11 |
A |
C |
9: 105,121,589 (GRCm39) |
Y443* |
probably null |
Het |
Nme4 |
T |
C |
17: 26,313,196 (GRCm39) |
|
probably null |
Het |
Nova1 |
A |
G |
12: 46,863,801 (GRCm39) |
|
probably benign |
Het |
Or52h9 |
A |
T |
7: 104,202,530 (GRCm39) |
I135F |
possibly damaging |
Het |
Parp10 |
A |
G |
15: 76,125,354 (GRCm39) |
|
probably null |
Het |
Pkd1l3 |
T |
A |
8: 110,350,603 (GRCm39) |
S483T |
possibly damaging |
Het |
Plce1 |
T |
C |
19: 38,512,709 (GRCm39) |
S3P |
probably damaging |
Het |
Pnldc1 |
T |
C |
17: 13,109,666 (GRCm39) |
D400G |
probably benign |
Het |
Polr2b |
G |
A |
5: 77,496,252 (GRCm39) |
R1141H |
possibly damaging |
Het |
Prmt6 |
A |
G |
3: 110,157,257 (GRCm39) |
I344T |
probably damaging |
Het |
Psmd2 |
G |
A |
16: 20,481,955 (GRCm39) |
G896D |
probably damaging |
Het |
Ranbp17 |
C |
T |
11: 33,450,718 (GRCm39) |
R73Q |
possibly damaging |
Het |
Rcn1 |
G |
T |
2: 105,229,395 (GRCm39) |
Y52* |
probably null |
Het |
Reck |
T |
C |
4: 43,922,931 (GRCm39) |
I402T |
probably damaging |
Het |
Tecpr1 |
C |
A |
5: 144,143,077 (GRCm39) |
A735S |
probably benign |
Het |
Tshz1 |
T |
C |
18: 84,032,954 (GRCm39) |
K485E |
possibly damaging |
Het |
Ube4a |
G |
A |
9: 44,861,198 (GRCm39) |
|
probably benign |
Het |
Vldlr |
A |
G |
19: 27,215,713 (GRCm39) |
T237A |
probably benign |
Het |
Vmn1r74 |
C |
A |
7: 11,580,898 (GRCm39) |
T66K |
probably damaging |
Het |
Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
probably benign |
Het |
Zmym1 |
C |
T |
4: 126,943,672 (GRCm39) |
V239I |
probably benign |
Het |
Zmym5 |
T |
A |
14: 57,035,268 (GRCm39) |
T267S |
probably benign |
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 |
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 |
|
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'- AGATCAGTCTTCACGCCCTG -3'
(R):5'- TTCCTGGAGATGCAGGACAAG -3'
Sequencing Primer
(F):5'- TCACGCCCTGGTCCTCG -3'
(R):5'- CAAGCTGGAGAGGCTGTTGC -3'
|
Posted On |
2015-04-30 |