Incidental Mutation 'R5656:Mast3'
| ID |
442330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mast3
|
| Ensembl Gene |
ENSMUSG00000031833 |
| Gene Name |
microtubule associated serine/threonine kinase 3 |
| Synonyms |
|
| MMRRC Submission |
043302-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5656 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
70778117-70805054 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70786221 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 496
(T496A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128703
(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: T496A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128703
Gene: ENSMUSG00000031833
AA Change: T496A
| 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 |
possibly damaging
Transcript: ENSMUST00000211948
AA Change: T480A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212001
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212038
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212140
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212172
|
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted(1) Gene trapped(1)
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 105,709,512 (GRCm38) |
S139G |
probably benign |
Het |
| Adrb3 |
T |
C |
8: 27,227,377 (GRCm38) |
D348G |
probably damaging |
Het |
| Atg2b |
A |
G |
12: 105,621,328 (GRCm38) |
V1959A |
probably benign |
Het |
| Bicral |
G |
A |
17: 46,808,369 (GRCm38) |
T742M |
probably damaging |
Het |
| Bub1b |
T |
A |
2: 118,605,431 (GRCm38) |
I60N |
probably damaging |
Het |
| Ccdc162 |
A |
G |
10: 41,569,934 (GRCm38) |
V414A |
probably benign |
Het |
| Cd22 |
T |
G |
7: 30,869,773 (GRCm38) |
Y612S |
probably damaging |
Het |
| Cd68 |
T |
A |
11: 69,664,421 (GRCm38) |
I320F |
probably damaging |
Het |
| Clca3a2 |
A |
T |
3: 144,797,632 (GRCm38) |
N852K |
probably benign |
Het |
| Cpa6 |
T |
A |
1: 10,329,514 (GRCm38) |
H363L |
probably benign |
Het |
| Ddx18 |
A |
T |
1: 121,561,358 (GRCm38) |
L320Q |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,421,064 (GRCm38) |
D3849G |
probably benign |
Het |
| Eci1 |
T |
A |
17: 24,437,309 (GRCm38) |
N164K |
probably damaging |
Het |
| Efs |
T |
C |
14: 54,917,127 (GRCm38) |
T552A |
probably damaging |
Het |
| Fbp1 |
C |
A |
13: 62,875,196 (GRCm38) |
V96L |
probably damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,662,654 (GRCm38) |
N1139I |
probably benign |
Het |
| Gucy1b2 |
T |
C |
14: 62,422,981 (GRCm38) |
Y152C |
probably damaging |
Het |
| Gxylt1 |
A |
T |
15: 93,245,661 (GRCm38) |
L362Q |
probably damaging |
Het |
| Iqcd |
A |
G |
5: 120,605,126 (GRCm38) |
|
probably null |
Het |
| Klhl41 |
T |
A |
2: 69,683,532 (GRCm38) |
I585N |
possibly damaging |
Het |
| Map6 |
A |
G |
7: 99,336,298 (GRCm38) |
K470E |
probably damaging |
Het |
| Mbd6 |
A |
T |
10: 127,285,286 (GRCm38) |
|
probably benign |
Het |
| Melk |
A |
G |
4: 44,312,237 (GRCm38) |
K183R |
possibly damaging |
Het |
| Mta1 |
T |
C |
12: 113,123,139 (GRCm38) |
V152A |
probably damaging |
Het |
| Naa35 |
G |
A |
13: 59,622,866 (GRCm38) |
|
probably benign |
Het |
| Nav3 |
A |
C |
10: 109,764,633 (GRCm38) |
S1378A |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 27,051,645 (GRCm38) |
D415E |
possibly damaging |
Het |
| Nlrp4f |
G |
A |
13: 65,190,871 (GRCm38) |
R651* |
probably null |
Het |
| Or1e1f |
T |
A |
11: 73,964,710 (GRCm38) |
M34K |
probably damaging |
Het |
| Or5b121 |
A |
G |
19: 13,530,380 (GRCm38) |
T280A |
probably benign |
Het |
| Or5p72 |
A |
G |
7: 108,422,618 (GRCm38) |
I16V |
probably benign |
Het |
| P2rx7 |
A |
T |
5: 122,673,717 (GRCm38) |
R364W |
probably damaging |
Het |
| Phactr2 |
T |
C |
10: 13,388,703 (GRCm38) |
D2G |
probably benign |
Het |
| Phc3 |
G |
T |
3: 30,965,866 (GRCm38) |
S28R |
probably damaging |
Het |
| Ppfia1 |
A |
T |
7: 144,519,974 (GRCm38) |
|
probably null |
Het |
| Prdm10 |
C |
T |
9: 31,353,417 (GRCm38) |
T667M |
probably benign |
Het |
| Pwwp2b |
T |
A |
7: 139,255,971 (GRCm38) |
S443T |
possibly damaging |
Het |
| Pzp |
T |
C |
6: 128,490,072 (GRCm38) |
T1113A |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,636,136 (GRCm38) |
E551G |
possibly damaging |
Het |
| Sec23ip |
A |
G |
7: 128,776,784 (GRCm38) |
Y774C |
probably damaging |
Het |
| Setdb2 |
T |
C |
14: 59,419,118 (GRCm38) |
D266G |
probably damaging |
Het |
| Shank1 |
T |
C |
7: 44,352,886 (GRCm38) |
V1343A |
probably benign |
Het |
| Slf2 |
T |
A |
19: 44,973,235 (GRCm38) |
D1064E |
probably benign |
Het |
| Slu7 |
A |
G |
11: 43,443,418 (GRCm38) |
K424E |
probably benign |
Het |
| Smg1 |
A |
T |
7: 118,154,664 (GRCm38) |
|
probably benign |
Het |
| Sptlc2 |
A |
T |
12: 87,346,761 (GRCm38) |
L264Q |
probably damaging |
Het |
| Sra1 |
A |
G |
18: 36,678,407 (GRCm38) |
S93P |
probably damaging |
Het |
| Sult1c2 |
T |
C |
17: 53,964,652 (GRCm38) |
E169G |
probably benign |
Het |
| Sv2a |
A |
G |
3: 96,185,572 (GRCm38) |
D196G |
probably damaging |
Het |
| Tbc1d22b |
A |
G |
17: 29,594,780 (GRCm38) |
I362M |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,228,762 (GRCm38) |
D2611G |
probably damaging |
Het |
| Tmem43 |
T |
C |
6: 91,480,708 (GRCm38) |
F191L |
probably benign |
Het |
| Trbv13-2 |
T |
A |
6: 41,121,694 (GRCm38) |
Y68N |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,774,654 (GRCm38) |
D18312A |
possibly damaging |
Het |
| Ublcp1 |
A |
G |
11: 44,465,606 (GRCm38) |
V95A |
probably damaging |
Het |
| Usp17ld |
A |
G |
7: 103,250,840 (GRCm38) |
V295A |
probably damaging |
Het |
| Vmn1r29 |
T |
A |
6: 58,308,167 (GRCm38) |
L291M |
possibly damaging |
Het |
| Vsig10l |
C |
T |
7: 43,464,151 (GRCm38) |
R176* |
probably null |
Het |
| Zbtb46 |
A |
G |
2: 181,423,417 (GRCm38) |
|
probably null |
Het |
| Zfp644 |
A |
G |
5: 106,637,982 (GRCm38) |
V233A |
probably benign |
Het |
|
| Other mutations in Mast3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:Mast3
|
APN |
8 |
70,780,683 (GRCm38) |
splice site |
probably benign |
|
|
IGL01411:Mast3
|
APN |
8 |
70,779,583 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL01475:Mast3
|
APN |
8 |
70,779,530 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01886:Mast3
|
APN |
8 |
70,782,139 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02104:Mast3
|
APN |
8 |
70,787,906 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
IGL02236:Mast3
|
APN |
8 |
70,789,244 (GRCm38) |
missense |
probably benign |
0.36 |
|
IGL02437:Mast3
|
APN |
8 |
70,780,558 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
IGL02704:Mast3
|
APN |
8 |
70,786,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03155:Mast3
|
APN |
8 |
70,789,217 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03366:Mast3
|
APN |
8 |
70,781,563 (GRCm38) |
nonsense |
probably null |
|
|
gravy
|
UTSW |
8 |
70,786,635 (GRCm38) |
missense |
probably damaging |
1.00 |
|
stuffing
|
UTSW |
8 |
70,784,797 (GRCm38) |
frame shift |
probably null |
|
|
turkey
|
UTSW |
8 |
70,785,482 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB010:Mast3
|
UTSW |
8 |
70,786,635 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB020:Mast3
|
UTSW |
8 |
70,786,635 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0037:Mast3
|
UTSW |
8 |
70,783,699 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0280:Mast3
|
UTSW |
8 |
70,787,920 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R0280:Mast3
|
UTSW |
8 |
70,783,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0731:Mast3
|
UTSW |
8 |
70,781,321 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1101:Mast3
|
UTSW |
8 |
70,786,663 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1177:Mast3
|
UTSW |
8 |
70,780,324 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1208:Mast3
|
UTSW |
8 |
70,788,272 (GRCm38) |
splice site |
probably null |
|
|
R1208:Mast3
|
UTSW |
8 |
70,788,272 (GRCm38) |
splice site |
probably null |
|
|
R1333:Mast3
|
UTSW |
8 |
70,781,294 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1543:Mast3
|
UTSW |
8 |
70,792,311 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1544:Mast3
|
UTSW |
8 |
70,786,172 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1738:Mast3
|
UTSW |
8 |
70,784,556 (GRCm38) |
missense |
probably benign |
0.38 |
|
R1842:Mast3
|
UTSW |
8 |
70,780,393 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1936:Mast3
|
UTSW |
8 |
70,784,800 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2015:Mast3
|
UTSW |
8 |
70,787,363 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2219:Mast3
|
UTSW |
8 |
70,780,963 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2220:Mast3
|
UTSW |
8 |
70,780,963 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3711:Mast3
|
UTSW |
8 |
70,779,607 (GRCm38) |
missense |
probably benign |
0.13 |
|
R3919:Mast3
|
UTSW |
8 |
70,779,422 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4027:Mast3
|
UTSW |
8 |
70,787,908 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4060:Mast3
|
UTSW |
8 |
70,781,194 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4061:Mast3
|
UTSW |
8 |
70,781,194 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4062:Mast3
|
UTSW |
8 |
70,781,194 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4063:Mast3
|
UTSW |
8 |
70,781,194 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4588:Mast3
|
UTSW |
8 |
70,780,607 (GRCm38) |
nonsense |
probably null |
|
|
R4672:Mast3
|
UTSW |
8 |
70,784,797 (GRCm38) |
frame shift |
probably null |
|
|
R4770:Mast3
|
UTSW |
8 |
70,786,220 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4822:Mast3
|
UTSW |
8 |
70,780,366 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4830:Mast3
|
UTSW |
8 |
70,788,915 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5196:Mast3
|
UTSW |
8 |
70,788,245 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5333:Mast3
|
UTSW |
8 |
70,783,501 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5428:Mast3
|
UTSW |
8 |
70,784,733 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5920:Mast3
|
UTSW |
8 |
70,787,933 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6177:Mast3
|
UTSW |
8 |
70,790,018 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6186:Mast3
|
UTSW |
8 |
70,785,483 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6407:Mast3
|
UTSW |
8 |
70,782,128 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6614:Mast3
|
UTSW |
8 |
70,781,966 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6804:Mast3
|
UTSW |
8 |
70,786,732 (GRCm38) |
missense |
probably benign |
0.29 |
|
R6873:Mast3
|
UTSW |
8 |
70,786,592 (GRCm38) |
nonsense |
probably null |
|
|
R6930:Mast3
|
UTSW |
8 |
70,799,471 (GRCm38) |
nonsense |
probably null |
|
|
R6948:Mast3
|
UTSW |
8 |
70,785,482 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7084:Mast3
|
UTSW |
8 |
70,779,473 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7253:Mast3
|
UTSW |
8 |
70,789,682 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7316:Mast3
|
UTSW |
8 |
70,779,788 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7357:Mast3
|
UTSW |
8 |
70,784,859 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7405:Mast3
|
UTSW |
8 |
70,786,171 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7429:Mast3
|
UTSW |
8 |
70,780,303 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7430:Mast3
|
UTSW |
8 |
70,780,303 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7521:Mast3
|
UTSW |
8 |
70,788,768 (GRCm38) |
missense |
probably benign |
0.16 |
|
R7576:Mast3
|
UTSW |
8 |
70,781,194 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7933:Mast3
|
UTSW |
8 |
70,786,635 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7998:Mast3
|
UTSW |
8 |
70,783,570 (GRCm38) |
missense |
probably benign |
|
|
R8021:Mast3
|
UTSW |
8 |
70,788,252 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8204:Mast3
|
UTSW |
8 |
70,788,281 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8327:Mast3
|
UTSW |
8 |
70,779,418 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8357:Mast3
|
UTSW |
8 |
70,780,441 (GRCm38) |
missense |
probably benign |
0.39 |
|
R8415:Mast3
|
UTSW |
8 |
70,781,222 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8457:Mast3
|
UTSW |
8 |
70,780,441 (GRCm38) |
missense |
probably benign |
0.39 |
|
R8530:Mast3
|
UTSW |
8 |
70,788,233 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8891:Mast3
|
UTSW |
8 |
70,781,157 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8930:Mast3
|
UTSW |
8 |
70,781,733 (GRCm38) |
splice site |
probably benign |
|
|
R9002:Mast3
|
UTSW |
8 |
70,781,260 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9085:Mast3
|
UTSW |
8 |
70,796,717 (GRCm38) |
missense |
unknown |
|
|
R9087:Mast3
|
UTSW |
8 |
70,789,686 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9148:Mast3
|
UTSW |
8 |
70,780,447 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9364:Mast3
|
UTSW |
8 |
70,786,182 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9779:Mast3
|
UTSW |
8 |
70,785,483 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Mast3
|
UTSW |
8 |
70,789,038 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCACCCTAAAGGCAGAGC -3'
(R):5'- TCTTAGAATGCTACCCTGCTGG -3'
Sequencing Primer
(F):5'- GCAGGGTCTCTCTGTTGCC -3'
(R):5'- TGCTGGGCAGAACCTATAGACC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation