Incidental Mutation 'R7357:Mast3'
| ID |
571032 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mast3
|
| Ensembl Gene |
ENSMUSG00000031833 |
| Gene Name |
microtubule associated serine/threonine kinase 3 |
| Synonyms |
|
| MMRRC Submission |
045443-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7357 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71230761-71257681 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71237503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 557
(V557A)
|
| 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: V573A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128703
Gene: ENSMUSG00000031833
AA Change: V573A
| 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 damaging
Transcript: ENSMUST00000211948
AA Change: V557A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
97% (64/66) |
| Allele List at MGI |
All alleles(2) : Targeted(1) Gene trapped(1)
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430550D23Rik |
A |
T |
2: 155,845,787 (GRCm39) |
H23Q |
unknown |
Het |
| 9530068E07Rik |
A |
T |
11: 52,297,821 (GRCm39) |
K233I |
probably damaging |
Het |
| Aldh1l2 |
T |
C |
10: 83,350,408 (GRCm39) |
M320V |
possibly damaging |
Het |
| C2cd3 |
A |
G |
7: 100,079,310 (GRCm39) |
N838S |
|
Het |
| Cacna1s |
T |
C |
1: 135,998,759 (GRCm39) |
F218S |
probably damaging |
Het |
| Carmil3 |
G |
T |
14: 55,728,590 (GRCm39) |
|
probably benign |
Het |
| Cd300a |
A |
T |
11: 114,784,153 (GRCm39) |
T54S |
probably benign |
Het |
| Celf3 |
G |
A |
3: 94,387,637 (GRCm39) |
E70K |
probably damaging |
Het |
| Celsr1 |
A |
C |
15: 85,914,715 (GRCm39) |
M1086R |
probably benign |
Het |
| Ces2f |
G |
A |
8: 105,676,595 (GRCm39) |
M96I |
probably benign |
Het |
| Chrdl2 |
G |
A |
7: 99,678,414 (GRCm39) |
V329I |
probably benign |
Het |
| Ctc1 |
T |
A |
11: 68,925,568 (GRCm39) |
L1035Q |
probably benign |
Het |
| Dbi |
A |
G |
1: 120,047,623 (GRCm39) |
|
probably null |
Het |
| Dock3 |
A |
G |
9: 106,882,568 (GRCm39) |
I405T |
probably benign |
Het |
| Dpp4 |
A |
T |
2: 62,217,421 (GRCm39) |
W59R |
probably benign |
Het |
| Dsg3 |
T |
A |
18: 20,672,840 (GRCm39) |
I837N |
probably damaging |
Het |
| Fbxw15 |
A |
G |
9: 109,387,308 (GRCm39) |
V229A |
probably benign |
Het |
| Fermt3 |
T |
C |
19: 6,980,211 (GRCm39) |
T395A |
probably benign |
Het |
| Focad |
A |
T |
4: 88,147,572 (GRCm39) |
I404F |
probably benign |
Het |
| Gm8104 |
T |
C |
14: 42,959,068 (GRCm39) |
I86T |
probably damaging |
Het |
| Gm9857 |
A |
C |
3: 108,847,478 (GRCm39) |
L95R |
unknown |
Het |
| Hoxa1 |
A |
T |
6: 52,133,929 (GRCm39) |
S266T |
probably benign |
Het |
| Kif19b |
A |
G |
5: 140,480,806 (GRCm39) |
R979G |
possibly damaging |
Het |
| Leng8 |
T |
A |
7: 4,147,932 (GRCm39) |
Y625* |
probably null |
Het |
| Morc1 |
T |
C |
16: 48,442,953 (GRCm39) |
F813L |
probably benign |
Het |
| Ntf3 |
T |
A |
6: 126,078,961 (GRCm39) |
I182F |
probably damaging |
Het |
| Nup153 |
G |
T |
13: 46,870,642 (GRCm39) |
A91E |
probably benign |
Het |
| Or13l2 |
G |
C |
3: 97,317,971 (GRCm39) |
N175K |
probably damaging |
Het |
| Or52h1 |
A |
T |
7: 103,828,978 (GRCm39) |
D212E |
probably damaging |
Het |
| Pamr1 |
G |
A |
2: 102,417,049 (GRCm39) |
W120* |
probably null |
Het |
| Pcsk1 |
A |
G |
13: 75,274,079 (GRCm39) |
N436S |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,622,857 (GRCm39) |
K1451E |
probably benign |
Het |
| Pebp4 |
G |
A |
14: 70,285,864 (GRCm39) |
V176I |
possibly damaging |
Het |
| Phgdh |
G |
A |
3: 98,247,138 (GRCm39) |
A4V |
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,610,791 (GRCm39) |
|
probably null |
Het |
| Ppic |
T |
C |
18: 53,544,139 (GRCm39) |
Y82C |
probably damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,686,941 (GRCm39) |
V94A |
possibly damaging |
Het |
| Ppp1r9b |
T |
C |
11: 94,895,424 (GRCm39) |
V704A |
probably benign |
Het |
| Pramel6 |
G |
T |
2: 87,340,856 (GRCm39) |
R396L |
not run |
Het |
| Prss48 |
A |
T |
3: 85,904,528 (GRCm39) |
D223E |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,574,149 (GRCm39) |
K11E |
probably benign |
Het |
| Rabgap1l |
T |
C |
1: 160,169,608 (GRCm39) |
K780E |
probably damaging |
Het |
| Retreg1 |
A |
T |
15: 25,972,029 (GRCm39) |
D323V |
probably damaging |
Het |
| Samd11 |
A |
T |
4: 156,340,067 (GRCm39) |
|
probably null |
Het |
| Sec14l3 |
T |
A |
11: 4,020,127 (GRCm39) |
F188Y |
probably benign |
Het |
| Serpina5 |
A |
T |
12: 104,069,639 (GRCm39) |
T284S |
possibly damaging |
Het |
| Setx |
A |
G |
2: 29,020,313 (GRCm39) |
D100G |
probably benign |
Het |
| Sis |
A |
T |
3: 72,832,404 (GRCm39) |
V1035D |
probably damaging |
Het |
| Slco4a1 |
A |
G |
2: 180,113,930 (GRCm39) |
I456V |
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,286,369 (GRCm39) |
C393S |
possibly damaging |
Het |
| Stil |
T |
C |
4: 114,871,423 (GRCm39) |
|
probably null |
Het |
| Sult6b1 |
A |
G |
17: 79,202,059 (GRCm39) |
S148P |
probably damaging |
Het |
| Sycp2 |
G |
T |
2: 178,045,597 (GRCm39) |
|
probably null |
Het |
| Tesmin |
T |
C |
19: 3,447,042 (GRCm39) |
I273T |
probably benign |
Het |
| Tmem39a |
T |
A |
16: 38,406,592 (GRCm39) |
Y310N |
probably damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,041,781 (GRCm39) |
D1258E |
probably damaging |
Het |
| Ttc12 |
A |
C |
9: 49,349,687 (GRCm39) |
D703E |
probably benign |
Het |
| Unc13c |
TATAA |
TATAATAA |
9: 73,840,810 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
ATA |
ATAGTA |
9: 73,840,811 (GRCm39) |
|
probably benign |
Het |
| Usp18 |
T |
C |
6: 121,230,808 (GRCm39) |
I79T |
possibly damaging |
Het |
| Usp9y |
A |
T |
Y: 1,333,656 (GRCm39) |
D1596E |
possibly damaging |
Het |
| Vmn2r109 |
A |
T |
17: 20,761,536 (GRCm39) |
V607E |
probably damaging |
Het |
| Vwa8 |
G |
A |
14: 79,275,641 (GRCm39) |
R808K |
probably null |
Het |
| Zfp248 |
A |
G |
6: 118,406,618 (GRCm39) |
Y324H |
probably damaging |
Het |
| Zfp513 |
G |
A |
5: 31,357,132 (GRCm39) |
P387S |
possibly 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 |
|
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'- TCTCATCTGAAGTTCCGGGG -3'
(R):5'- AGCCTCATTTCCCATGTGTG -3'
Sequencing Primer
(F):5'- AGTGTCAGAATGCTCTTTCTAGC -3'
(R):5'- AGCCTCATTTCCCATGTGTGTAAATG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation