Incidental Mutation 'R7695:Mast1'
| ID |
593609 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mast1
|
| Ensembl Gene |
ENSMUSG00000053693 |
| Gene Name |
microtubule associated serine/threonine kinase 1 |
| Synonyms |
9430008B02Rik, SAST, SAST170 |
| MMRRC Submission |
045758-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7695 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
85638532-85663988 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85647557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 560
(V560A)
|
| 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: V560A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105363
Gene: ENSMUSG00000053693
AA Change: V560A
| 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: V560A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113547
Gene: ENSMUSG00000053693
AA Change: V560A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1908
|
61 |
338 |
5.1e-148 |
PFAM |
|
S_TKc
|
376 |
644 |
2.79e-86 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
T |
C |
15: 74,415,487 (GRCm39) |
V689A |
possibly damaging |
Het |
| Casp12 |
A |
G |
9: 5,353,641 (GRCm39) |
E225G |
probably damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,868,668 (GRCm39) |
L806P |
probably damaging |
Het |
| Ccnd3 |
T |
A |
17: 47,908,421 (GRCm39) |
I164N |
probably damaging |
Het |
| Cd209b |
A |
G |
8: 3,976,005 (GRCm39) |
V52A |
probably benign |
Het |
| Celsr2 |
G |
A |
3: 108,310,069 (GRCm39) |
R1554W |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,497,260 (GRCm39) |
I239N |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,683,777 (GRCm39) |
V948D |
|
Het |
| Dnmt1 |
C |
A |
9: 20,825,281 (GRCm39) |
G1061V |
probably null |
Het |
| Dpysl4 |
A |
G |
7: 138,666,039 (GRCm39) |
M1V |
probably null |
Het |
| Elp5 |
T |
C |
11: 69,860,327 (GRCm39) |
T227A |
probably benign |
Het |
| Exosc1 |
G |
A |
19: 41,916,519 (GRCm39) |
H86Y |
possibly damaging |
Het |
| Foxn4 |
G |
T |
5: 114,394,648 (GRCm39) |
D426E |
probably damaging |
Het |
| Gabbr2 |
A |
G |
4: 46,875,687 (GRCm39) |
L145P |
probably damaging |
Het |
| Gkn3 |
A |
G |
6: 87,361,422 (GRCm39) |
Y126H |
probably damaging |
Het |
| Gm16506 |
A |
G |
14: 43,962,463 (GRCm39) |
F148S |
|
Het |
| Gm3558 |
A |
G |
14: 19,121,623 (GRCm39) |
I76T |
probably benign |
Het |
| Gm49359 |
A |
G |
13: 62,604,558 (GRCm39) |
F45S |
possibly damaging |
Het |
| Gpc5 |
A |
T |
14: 115,330,026 (GRCm39) |
H63L |
unknown |
Het |
| H2bl1 |
T |
C |
13: 99,120,766 (GRCm39) |
T87A |
probably damaging |
Het |
| Hbs1l |
A |
T |
10: 21,175,116 (GRCm39) |
D28V |
possibly damaging |
Het |
| Ide |
G |
A |
19: 37,306,435 (GRCm39) |
H113Y |
|
Het |
| Igkv3-3 |
A |
T |
6: 70,664,295 (GRCm39) |
S46C |
probably damaging |
Het |
| Igsf10 |
A |
T |
3: 59,233,612 (GRCm39) |
V1707D |
probably damaging |
Het |
| Kcna5 |
A |
T |
6: 126,511,174 (GRCm39) |
V318E |
probably damaging |
Het |
| Kdm3b |
T |
C |
18: 34,927,612 (GRCm39) |
F158S |
possibly damaging |
Het |
| Lrrc14b |
T |
A |
13: 74,511,297 (GRCm39) |
D261V |
possibly damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,646,769 (GRCm39) |
I485F |
probably damaging |
Het |
| Map6 |
C |
T |
7: 98,985,499 (GRCm39) |
L671F |
possibly damaging |
Het |
| Mfap4 |
A |
T |
11: 61,376,545 (GRCm39) |
|
probably null |
Het |
| Myh9 |
A |
G |
15: 77,650,936 (GRCm39) |
I1637T |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,810,212 (GRCm39) |
F1080I |
possibly damaging |
Het |
| Or1e17 |
T |
A |
11: 73,831,720 (GRCm39) |
V216E |
possibly damaging |
Het |
| Or4k48 |
A |
G |
2: 111,475,970 (GRCm39) |
V124A |
probably damaging |
Het |
| Or4x6 |
A |
G |
2: 89,949,207 (GRCm39) |
V245A |
probably benign |
Het |
| Or51a25 |
T |
C |
7: 102,372,866 (GRCm39) |
H277R |
probably benign |
Het |
| Pax2 |
A |
G |
19: 44,821,638 (GRCm39) |
Y318C |
probably damaging |
Het |
| Pcnx4 |
A |
T |
12: 72,588,350 (GRCm39) |
M53L |
probably benign |
Het |
| Pkd2l2 |
T |
A |
18: 34,561,298 (GRCm39) |
D435E |
possibly damaging |
Het |
| Plec |
G |
A |
15: 76,068,055 (GRCm39) |
Q1117* |
probably null |
Het |
| Ppp2r2c |
T |
C |
5: 37,104,526 (GRCm39) |
L302P |
probably damaging |
Het |
| Prex2 |
T |
C |
1: 11,232,497 (GRCm39) |
F855L |
probably benign |
Het |
| Reg3d |
A |
T |
6: 78,354,119 (GRCm39) |
W103R |
probably benign |
Het |
| Rnf216 |
A |
C |
5: 143,071,659 (GRCm39) |
H440Q |
possibly damaging |
Het |
| Scn2a |
A |
G |
2: 65,542,251 (GRCm39) |
T785A |
probably damaging |
Het |
| Sh3pxd2a |
T |
A |
19: 47,256,270 (GRCm39) |
Y844F |
probably damaging |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Spp1 |
T |
C |
5: 104,583,009 (GRCm39) |
|
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,330,633 (GRCm39) |
S196T |
probably benign |
Het |
| Thrap3 |
G |
A |
4: 126,073,891 (GRCm39) |
S285L |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,666,305 (GRCm39) |
R11584* |
probably null |
Het |
| Ubap2 |
A |
G |
4: 41,211,740 (GRCm39) |
S341P |
probably damaging |
Het |
| Upf3a |
T |
G |
8: 13,848,279 (GRCm39) |
S358R |
probably benign |
Het |
| Zdbf2 |
T |
A |
1: 63,346,529 (GRCm39) |
I1636N |
possibly damaging |
Het |
| Zfp946 |
C |
A |
17: 22,674,002 (GRCm39) |
T252N |
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 |
|
|
R5463:Mast1
|
UTSW |
8 |
85,652,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GCCACAGTATGTCATCTGCAAAG -3'
(R):5'- TGGACAAACAGGTGTGTGGC -3'
Sequencing Primer
(F):5'- AATGAAGCTGAGGTCGCC -3'
(R):5'- CGGGCATGGGAGTCACC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation