Incidental Mutation 'R5463:Mast1'
ID |
433103 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mast1
|
Ensembl Gene |
ENSMUSG00000053693 |
Gene Name |
microtubule associated serine/threonine kinase 1 |
Synonyms |
9430008B02Rik, SAST, SAST170 |
MMRRC Submission |
043025-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5463 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
85638532-85663988 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 85652136 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 304
(E304G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105363
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109741]
[ENSMUST00000119820]
|
AlphaFold |
Q9R1L5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109741
AA Change: E304G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105363 Gene: ENSMUSG00000053693 AA Change: E304G
Domain | Start | End | E-Value | Type |
Pfam:DUF1908
|
61 |
337 |
1.4e-136 |
PFAM |
S_TKc
|
376 |
649 |
4.07e-97 |
SMART |
S_TK_X
|
650 |
710 |
6.23e-2 |
SMART |
low complexity region
|
820 |
836 |
N/A |
INTRINSIC |
low complexity region
|
863 |
878 |
N/A |
INTRINSIC |
low complexity region
|
933 |
961 |
N/A |
INTRINSIC |
PDZ
|
977 |
1057 |
3.49e-14 |
SMART |
low complexity region
|
1104 |
1132 |
N/A |
INTRINSIC |
low complexity region
|
1149 |
1174 |
N/A |
INTRINSIC |
low complexity region
|
1212 |
1224 |
N/A |
INTRINSIC |
low complexity region
|
1243 |
1252 |
N/A |
INTRINSIC |
low complexity region
|
1479 |
1492 |
N/A |
INTRINSIC |
low complexity region
|
1519 |
1535 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119820
AA Change: E304G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113547 Gene: ENSMUSG00000053693 AA Change: E304G
Domain | Start | End | E-Value | Type |
Pfam:DUF1908
|
61 |
338 |
5.1e-148 |
PFAM |
S_TKc
|
376 |
644 |
2.79e-86 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130923
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138221
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148573
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153000
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175085
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930009A15Rik |
A |
C |
10: 115,406,104 (GRCm39) |
|
probably benign |
Het |
Arhgap29 |
T |
A |
3: 121,782,200 (GRCm39) |
S71T |
possibly damaging |
Het |
BC048507 |
T |
C |
13: 68,011,817 (GRCm39) |
Y65H |
probably damaging |
Het |
C3 |
T |
C |
17: 57,518,720 (GRCm39) |
E1221G |
probably benign |
Het |
Calb1 |
G |
T |
4: 15,885,656 (GRCm39) |
V76L |
probably benign |
Het |
Crybg1 |
T |
A |
10: 43,879,689 (GRCm39) |
K500* |
probably null |
Het |
Csmd1 |
G |
A |
8: 16,034,860 (GRCm39) |
T2437I |
probably benign |
Het |
Cyp27b1 |
G |
A |
10: 126,887,966 (GRCm39) |
V493I |
possibly damaging |
Het |
Cyp3a44 |
T |
A |
5: 145,740,554 (GRCm39) |
T29S |
probably benign |
Het |
Dclk3 |
T |
C |
9: 111,298,328 (GRCm39) |
V624A |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,069,140 (GRCm39) |
I2464V |
probably benign |
Het |
Dock6 |
A |
T |
9: 21,721,254 (GRCm39) |
|
probably null |
Het |
Erap1 |
C |
T |
13: 74,794,533 (GRCm39) |
T64I |
probably damaging |
Het |
Erbb3 |
A |
T |
10: 128,405,948 (GRCm39) |
Y1156* |
probably null |
Het |
Fam168a |
G |
A |
7: 100,484,602 (GRCm39) |
A231T |
probably benign |
Het |
Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
Fbxo30 |
T |
C |
10: 11,166,813 (GRCm39) |
Y512H |
probably damaging |
Het |
Gcnt2 |
A |
T |
13: 41,071,650 (GRCm39) |
I98F |
possibly damaging |
Het |
Got1 |
G |
A |
19: 43,493,036 (GRCm39) |
T295I |
probably benign |
Het |
Herc2 |
A |
G |
7: 55,844,010 (GRCm39) |
E3538G |
probably damaging |
Het |
Kcnmb4 |
A |
T |
10: 116,309,410 (GRCm39) |
V6E |
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Letmd1 |
C |
T |
15: 100,367,009 (GRCm39) |
A2V |
probably damaging |
Het |
Lynx1 |
G |
T |
15: 74,623,462 (GRCm39) |
Y28* |
probably null |
Het |
Nipa1 |
G |
A |
7: 55,629,205 (GRCm39) |
Q303* |
probably null |
Het |
Nomo1 |
G |
A |
7: 45,712,426 (GRCm39) |
R657H |
possibly damaging |
Het |
Or51b4 |
C |
T |
7: 103,530,541 (GRCm39) |
R303H |
probably benign |
Het |
Pcdha7 |
T |
A |
18: 37,108,628 (GRCm39) |
L551Q |
probably damaging |
Het |
Pik3r4 |
T |
C |
9: 105,525,930 (GRCm39) |
Y267H |
probably damaging |
Het |
Pnliprp1 |
A |
G |
19: 58,723,168 (GRCm39) |
D223G |
probably damaging |
Het |
Prph |
G |
A |
15: 98,953,281 (GRCm39) |
G65D |
probably benign |
Het |
Pskh1 |
T |
C |
8: 106,639,464 (GRCm39) |
L48P |
probably benign |
Het |
Ptdss1 |
C |
A |
13: 67,093,365 (GRCm39) |
N68K |
probably damaging |
Het |
Rexo5 |
G |
A |
7: 119,433,526 (GRCm39) |
G495R |
probably damaging |
Het |
Ryr1 |
C |
A |
7: 28,723,448 (GRCm39) |
A4204S |
possibly damaging |
Het |
Serpinb9 |
G |
A |
13: 33,199,659 (GRCm39) |
S318N |
probably damaging |
Het |
Slc22a8 |
G |
A |
19: 8,586,638 (GRCm39) |
R383H |
probably benign |
Het |
Trim26 |
A |
G |
17: 37,162,016 (GRCm39) |
H145R |
probably damaging |
Het |
Trps1 |
A |
T |
15: 50,695,286 (GRCm39) |
Y286* |
probably null |
Het |
Vmn1r181 |
A |
G |
7: 23,683,787 (GRCm39) |
N84S |
probably benign |
Het |
Wdfy4 |
G |
T |
14: 32,873,689 (GRCm39) |
Q207K |
probably benign |
Het |
Whrn |
G |
A |
4: 63,351,053 (GRCm39) |
T427I |
probably benign |
Het |
|
Other mutations in Mast1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01395:Mast1
|
APN |
8 |
85,639,444 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL01862:Mast1
|
APN |
8 |
85,639,875 (GRCm39) |
splice site |
probably null |
|
IGL01918:Mast1
|
APN |
8 |
85,647,838 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02212:Mast1
|
APN |
8 |
85,648,026 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02221:Mast1
|
APN |
8 |
85,645,384 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02370:Mast1
|
APN |
8 |
85,638,883 (GRCm39) |
missense |
probably benign |
|
IGL02470:Mast1
|
APN |
8 |
85,647,841 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02596:Mast1
|
APN |
8 |
85,644,400 (GRCm39) |
missense |
probably benign |
|
IGL02716:Mast1
|
APN |
8 |
85,662,352 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02987:Mast1
|
APN |
8 |
85,652,348 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL03287:Mast1
|
APN |
8 |
85,639,982 (GRCm39) |
missense |
probably benign |
0.01 |
R0255:Mast1
|
UTSW |
8 |
85,638,650 (GRCm39) |
missense |
probably benign |
|
R0388:Mast1
|
UTSW |
8 |
85,642,166 (GRCm39) |
missense |
probably benign |
0.13 |
R0480:Mast1
|
UTSW |
8 |
85,639,718 (GRCm39) |
missense |
probably damaging |
0.99 |
R0727:Mast1
|
UTSW |
8 |
85,648,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R1175:Mast1
|
UTSW |
8 |
85,651,956 (GRCm39) |
missense |
probably benign |
0.29 |
R1297:Mast1
|
UTSW |
8 |
85,639,345 (GRCm39) |
missense |
probably benign |
0.05 |
R1328:Mast1
|
UTSW |
8 |
85,644,617 (GRCm39) |
intron |
probably benign |
|
R1454:Mast1
|
UTSW |
8 |
85,647,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R1532:Mast1
|
UTSW |
8 |
85,655,238 (GRCm39) |
nonsense |
probably null |
|
R1752:Mast1
|
UTSW |
8 |
85,651,965 (GRCm39) |
missense |
probably benign |
|
R1777:Mast1
|
UTSW |
8 |
85,638,697 (GRCm39) |
missense |
probably benign |
|
R1905:Mast1
|
UTSW |
8 |
85,642,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R1906:Mast1
|
UTSW |
8 |
85,642,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R1907:Mast1
|
UTSW |
8 |
85,642,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R2056:Mast1
|
UTSW |
8 |
85,646,995 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2071:Mast1
|
UTSW |
8 |
85,647,823 (GRCm39) |
missense |
probably damaging |
1.00 |
R2145:Mast1
|
UTSW |
8 |
85,648,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R2318:Mast1
|
UTSW |
8 |
85,647,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R2842:Mast1
|
UTSW |
8 |
85,650,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R3870:Mast1
|
UTSW |
8 |
85,645,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R3895:Mast1
|
UTSW |
8 |
85,662,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R3973:Mast1
|
UTSW |
8 |
85,645,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R4405:Mast1
|
UTSW |
8 |
85,647,520 (GRCm39) |
missense |
probably damaging |
1.00 |
R4533:Mast1
|
UTSW |
8 |
85,647,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R4725:Mast1
|
UTSW |
8 |
85,655,635 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4770:Mast1
|
UTSW |
8 |
85,655,875 (GRCm39) |
missense |
probably benign |
0.02 |
R4776:Mast1
|
UTSW |
8 |
85,663,822 (GRCm39) |
critical splice donor site |
probably null |
|
R4835:Mast1
|
UTSW |
8 |
85,650,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R4871:Mast1
|
UTSW |
8 |
85,647,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R4953:Mast1
|
UTSW |
8 |
85,645,357 (GRCm39) |
missense |
probably damaging |
0.99 |
R4960:Mast1
|
UTSW |
8 |
85,644,500 (GRCm39) |
missense |
probably benign |
|
R4978:Mast1
|
UTSW |
8 |
85,662,416 (GRCm39) |
missense |
probably damaging |
0.98 |
R5164:Mast1
|
UTSW |
8 |
85,640,147 (GRCm39) |
unclassified |
probably benign |
|
R5235:Mast1
|
UTSW |
8 |
85,640,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R5297:Mast1
|
UTSW |
8 |
85,639,947 (GRCm39) |
critical splice donor site |
probably null |
|
R5546:Mast1
|
UTSW |
8 |
85,642,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R5651:Mast1
|
UTSW |
8 |
85,655,597 (GRCm39) |
nonsense |
probably null |
|
R6124:Mast1
|
UTSW |
8 |
85,651,936 (GRCm39) |
missense |
probably benign |
0.01 |
R6213:Mast1
|
UTSW |
8 |
85,642,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R6717:Mast1
|
UTSW |
8 |
85,644,383 (GRCm39) |
missense |
probably benign |
|
R7000:Mast1
|
UTSW |
8 |
85,655,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R7011:Mast1
|
UTSW |
8 |
85,638,574 (GRCm39) |
nonsense |
probably null |
|
R7164:Mast1
|
UTSW |
8 |
85,661,933 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7695:Mast1
|
UTSW |
8 |
85,647,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R7845:Mast1
|
UTSW |
8 |
85,651,954 (GRCm39) |
nonsense |
probably null |
|
R7882:Mast1
|
UTSW |
8 |
85,639,947 (GRCm39) |
critical splice donor site |
probably null |
|
R8167:Mast1
|
UTSW |
8 |
85,647,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R8197:Mast1
|
UTSW |
8 |
85,639,450 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8773:Mast1
|
UTSW |
8 |
85,642,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R9477:Mast1
|
UTSW |
8 |
85,638,779 (GRCm39) |
missense |
probably benign |
0.18 |
R9526:Mast1
|
UTSW |
8 |
85,647,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R9557:Mast1
|
UTSW |
8 |
85,657,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R9655:Mast1
|
UTSW |
8 |
85,650,660 (GRCm39) |
missense |
probably damaging |
1.00 |
X0066:Mast1
|
UTSW |
8 |
85,647,507 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Mast1
|
UTSW |
8 |
85,645,310 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Mast1
|
UTSW |
8 |
85,639,088 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1177:Mast1
|
UTSW |
8 |
85,647,075 (GRCm39) |
missense |
probably benign |
0.09 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGATGTGTCGTCTTGCTC -3'
(R):5'- TAATCATCTCTCGCCCTGCAAG -3'
Sequencing Primer
(F):5'- TCCGGAGTGTTGGAGCC -3'
(R):5'- CCTGCAAGGCTTCTGGAGTG -3'
|
Posted On |
2016-10-06 |