Incidental Mutation 'R1738:Mast3'
| ID |
199873 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mast3
|
| Ensembl Gene |
ENSMUSG00000031833 |
| Gene Name |
microtubule associated serine/threonine kinase 3 |
| Synonyms |
|
| MMRRC Submission |
039770-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1738 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
71230761-71257681 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71237200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 637
(T637A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166004]
[ENSMUST00000211948]
[ENSMUST00000212038]
[ENSMUST00000212551]
[ENSMUST00000212875]
[ENSMUST00000212757]
[ENSMUST00000212673]
|
| AlphaFold |
Q3U214 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166004
AA Change: T637A
PolyPhen 2
Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000128703
Gene: ENSMUSG00000031833
AA Change: T637A
| 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 benign
Transcript: ENSMUST00000211948
AA Change: T621A
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| 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: ENSMUST00000212875
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212757
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212673
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.8%
- 10x: 94.7%
- 20x: 89.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted(1) Gene trapped(1)
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
G |
16: 4,682,475 (GRCm39) |
Y202C |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adgrl3 |
T |
G |
5: 81,535,826 (GRCm39) |
M155R |
probably damaging |
Het |
| Ak9 |
A |
T |
10: 41,211,917 (GRCm39) |
Q218L |
possibly damaging |
Het |
| Akap13 |
G |
A |
7: 75,326,942 (GRCm39) |
G647D |
probably damaging |
Het |
| Angptl3 |
A |
G |
4: 98,921,499 (GRCm39) |
T206A |
probably benign |
Het |
| Arhgap19 |
A |
G |
19: 41,772,820 (GRCm39) |
I291T |
probably benign |
Het |
| BC049715 |
C |
T |
6: 136,817,306 (GRCm39) |
P182L |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,984,133 (GRCm39) |
D3307G |
unknown |
Het |
| Cby2 |
C |
T |
14: 75,830,497 (GRCm39) |
M1I |
probably null |
Het |
| Ces2h |
T |
A |
8: 105,745,697 (GRCm39) |
|
probably null |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Col4a2 |
T |
A |
8: 11,496,238 (GRCm39) |
F1620I |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,744,083 (GRCm39) |
E88G |
probably damaging |
Het |
| Coro6 |
A |
G |
11: 77,360,251 (GRCm39) |
D407G |
probably benign |
Het |
| Cpe |
A |
T |
8: 65,064,475 (GRCm39) |
F241L |
probably damaging |
Het |
| Csde1 |
A |
G |
3: 102,936,493 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
T |
G |
13: 113,504,034 (GRCm39) |
L179R |
possibly damaging |
Het |
| Dgki |
A |
G |
6: 37,034,367 (GRCm39) |
I361T |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 119,634,582 (GRCm39) |
V1298A |
probably damaging |
Het |
| Duox2 |
T |
A |
2: 122,123,895 (GRCm39) |
I430F |
probably damaging |
Het |
| Gak |
T |
C |
5: 108,764,842 (GRCm39) |
Y153C |
probably damaging |
Het |
| Gal3st2 |
T |
A |
1: 93,802,318 (GRCm39) |
|
probably null |
Het |
| Gbp11 |
T |
C |
5: 105,474,510 (GRCm39) |
N389D |
probably benign |
Het |
| Grm1 |
A |
G |
10: 10,812,163 (GRCm39) |
V287A |
probably damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,882,732 (GRCm39) |
K36E |
probably damaging |
Het |
| Il24 |
T |
A |
1: 130,815,099 (GRCm39) |
|
probably null |
Het |
| Ino80d |
T |
C |
1: 63,132,624 (GRCm39) |
D13G |
probably damaging |
Het |
| Ipp |
G |
A |
4: 116,387,618 (GRCm39) |
V399I |
probably benign |
Het |
| Kank3 |
A |
T |
17: 34,036,168 (GRCm39) |
D12V |
probably damaging |
Het |
| Lcn12 |
A |
T |
2: 25,383,263 (GRCm39) |
S74R |
probably damaging |
Het |
| Nes |
C |
A |
3: 87,883,728 (GRCm39) |
Y662* |
probably null |
Het |
| Nudt13 |
A |
T |
14: 20,359,762 (GRCm39) |
H163L |
probably damaging |
Het |
| Or1j17 |
T |
C |
2: 36,578,797 (GRCm39) |
V261A |
probably benign |
Het |
| Or4a2 |
T |
C |
2: 89,248,362 (GRCm39) |
T132A |
probably benign |
Het |
| Or4p7 |
G |
A |
2: 88,221,671 (GRCm39) |
V27I |
probably benign |
Het |
| Or8k1 |
A |
T |
2: 86,048,060 (GRCm39) |
|
probably null |
Het |
| Pde6b |
C |
T |
5: 108,578,425 (GRCm39) |
R788* |
probably null |
Het |
| Pex13 |
A |
G |
11: 23,599,458 (GRCm39) |
L351P |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,295,525 (GRCm39) |
M942T |
probably damaging |
Het |
| Plch1 |
A |
T |
3: 63,626,659 (GRCm39) |
D571E |
probably benign |
Het |
| Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,874,125 (GRCm39) |
N470S |
possibly damaging |
Het |
| Primpol |
A |
G |
8: 47,060,873 (GRCm39) |
S82P |
probably damaging |
Het |
| Prkg1 |
T |
C |
19: 30,764,322 (GRCm39) |
D256G |
possibly damaging |
Het |
| Prune2 |
A |
G |
19: 17,102,374 (GRCm39) |
E2511G |
probably benign |
Het |
| Rassf8 |
T |
C |
6: 145,761,034 (GRCm39) |
I120T |
probably benign |
Het |
| Rfx4 |
G |
A |
10: 84,716,839 (GRCm39) |
|
probably null |
Het |
| Rtp2 |
A |
T |
16: 23,746,423 (GRCm39) |
N69K |
probably benign |
Het |
| Sh3d19 |
A |
T |
3: 86,027,913 (GRCm39) |
I597F |
probably damaging |
Het |
| Sorl1 |
T |
A |
9: 42,001,261 (GRCm39) |
E246D |
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,187,148 (GRCm39) |
I1094L |
probably benign |
Het |
| Tlr4 |
A |
T |
4: 66,759,313 (GRCm39) |
H702L |
probably benign |
Het |
| Tnfrsf14 |
T |
C |
4: 155,009,788 (GRCm39) |
D47G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,777,157 (GRCm39) |
Y1415C |
probably damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,576,377 (GRCm39) |
F416Y |
probably benign |
Het |
| Vmn2r54 |
A |
G |
7: 12,369,815 (GRCm39) |
S83P |
probably benign |
Het |
| Vtn |
A |
G |
11: 78,390,422 (GRCm39) |
D53G |
possibly damaging |
Het |
| Vwde |
A |
T |
6: 13,190,723 (GRCm39) |
V456D |
probably damaging |
Het |
| Wdr91 |
G |
A |
6: 34,861,243 (GRCm39) |
P653L |
probably damaging |
Het |
| Ythdf1 |
G |
A |
2: 180,553,285 (GRCm39) |
A283V |
probably benign |
Het |
| Zfp975 |
C |
A |
7: 42,312,373 (GRCm39) |
W80L |
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 |
|
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 |
|
|
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'- GCTTCAAGCTGTGGGACAAACTCTG -3'
(R):5'- AAGGGTCTGAGGTGACCACAATGC -3'
Sequencing Primer
(F):5'- TTTCCCACTGAATGGAGCCAG -3'
(R):5'- GGTGACCACAATGCTACCTC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation