Incidental Mutation 'R7164:Mast1'
ID |
557806 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mast1
|
Ensembl Gene |
ENSMUSG00000053693 |
Gene Name |
microtubule associated serine/threonine kinase 1 |
Synonyms |
9430008B02Rik, SAST, SAST170 |
MMRRC Submission |
045331-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7164 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
85638532-85663988 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 85661933 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 63
(D63G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105363
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109741]
[ENSMUST00000119820]
|
AlphaFold |
Q9R1L5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109741
AA Change: D63G
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000105363 Gene: ENSMUSG00000053693 AA Change: D63G
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 benign
Transcript: ENSMUST00000119820
AA Change: D63G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000113547 Gene: ENSMUSG00000053693 AA Change: D63G
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 |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn2 |
G |
A |
13: 12,293,847 (GRCm39) |
H558Y |
probably damaging |
Het |
Ajm1 |
T |
A |
2: 25,468,579 (GRCm39) |
H444L |
possibly damaging |
Het |
Akap9 |
G |
C |
5: 4,110,364 (GRCm39) |
E3022D |
probably damaging |
Het |
Anapc2 |
C |
T |
2: 25,175,011 (GRCm39) |
R710C |
probably damaging |
Het |
Bcl6 |
G |
A |
16: 23,784,976 (GRCm39) |
R675* |
probably null |
Het |
Carmil3 |
A |
G |
14: 55,738,739 (GRCm39) |
E844G |
probably damaging |
Het |
Cdk17 |
T |
G |
10: 93,068,343 (GRCm39) |
S367A |
probably benign |
Het |
Cfap206 |
T |
A |
4: 34,719,656 (GRCm39) |
M253L |
probably benign |
Het |
Chd3 |
T |
G |
11: 69,253,132 (GRCm39) |
K228Q |
probably damaging |
Het |
Cit |
T |
A |
5: 116,123,846 (GRCm39) |
I1503N |
possibly damaging |
Het |
Csn1s1 |
A |
G |
5: 87,822,087 (GRCm39) |
N119S |
possibly damaging |
Het |
Czib |
C |
A |
4: 107,752,087 (GRCm39) |
D155E |
not run |
Het |
Degs1 |
A |
G |
1: 182,106,690 (GRCm39) |
S226P |
probably damaging |
Het |
Espl1 |
T |
C |
15: 102,221,638 (GRCm39) |
W976R |
probably damaging |
Het |
Fbxl4 |
C |
T |
4: 22,386,218 (GRCm39) |
P275L |
probably benign |
Het |
Flnb |
A |
G |
14: 7,915,944 (GRCm38) |
|
probably null |
Het |
Gnptab |
T |
A |
10: 88,269,932 (GRCm39) |
Y878* |
probably null |
Het |
Gpr89 |
A |
T |
3: 96,778,714 (GRCm39) |
M453K |
probably benign |
Het |
Igsf5 |
A |
T |
16: 96,174,048 (GRCm39) |
Q26L |
possibly damaging |
Het |
Inpp5e |
T |
A |
2: 26,297,995 (GRCm39) |
D202V |
possibly damaging |
Het |
Itga3 |
C |
T |
11: 94,943,305 (GRCm39) |
V931M |
possibly damaging |
Het |
Kcnab3 |
T |
C |
11: 69,222,184 (GRCm39) |
|
probably null |
Het |
Klk4 |
T |
C |
7: 43,531,122 (GRCm39) |
I17T |
possibly damaging |
Het |
Lrrc73 |
T |
C |
17: 46,567,169 (GRCm39) |
L206P |
probably damaging |
Het |
Manba |
A |
T |
3: 135,248,149 (GRCm39) |
N346I |
probably damaging |
Het |
Map4k4 |
T |
C |
1: 40,013,132 (GRCm39) |
Y76H |
possibly damaging |
Het |
Map4k5 |
T |
C |
12: 69,877,210 (GRCm39) |
T312A |
probably benign |
Het |
Masp2 |
A |
G |
4: 148,694,572 (GRCm39) |
|
probably null |
Het |
Mtf2 |
T |
A |
5: 108,241,235 (GRCm39) |
S254T |
possibly damaging |
Het |
Myo16 |
A |
T |
8: 10,619,585 (GRCm39) |
T1379S |
unknown |
Het |
Myo5a |
A |
G |
9: 75,087,435 (GRCm39) |
E1097G |
probably benign |
Het |
Nat1 |
T |
C |
8: 67,944,329 (GRCm39) |
V238A |
possibly damaging |
Het |
Nhlrc2 |
A |
G |
19: 56,580,931 (GRCm39) |
D493G |
probably damaging |
Het |
Or10ak9 |
C |
T |
4: 118,726,922 (GRCm39) |
P315S |
probably benign |
Het |
Or1j21 |
T |
C |
2: 36,683,709 (GRCm39) |
S154P |
probably benign |
Het |
Or5ae2 |
A |
G |
7: 84,506,251 (GRCm39) |
I227V |
possibly damaging |
Het |
Or5b108 |
A |
T |
19: 13,168,270 (GRCm39) |
M80L |
probably benign |
Het |
Or5d20-ps1 |
T |
C |
2: 87,932,176 (GRCm39) |
K52E |
probably damaging |
Het |
Or8g51 |
A |
G |
9: 38,609,515 (GRCm39) |
I49T |
possibly damaging |
Het |
Pcsk5 |
C |
T |
19: 17,429,349 (GRCm39) |
C1543Y |
probably damaging |
Het |
Pde4d |
A |
G |
13: 109,169,222 (GRCm39) |
D88G |
probably benign |
Het |
Pld5 |
A |
T |
1: 176,041,187 (GRCm39) |
M1K |
probably null |
Het |
Prmt6 |
A |
G |
3: 110,157,680 (GRCm39) |
M203T |
probably benign |
Het |
Prr14l |
A |
T |
5: 32,986,510 (GRCm39) |
V995D |
probably damaging |
Het |
Psg18 |
T |
C |
7: 18,084,862 (GRCm39) |
E199G |
possibly damaging |
Het |
Pth1r |
A |
G |
9: 110,552,815 (GRCm39) |
I439T |
possibly damaging |
Het |
Ptprc |
T |
A |
1: 138,045,600 (GRCm39) |
I87F |
probably benign |
Het |
Slc44a1 |
T |
C |
4: 53,528,711 (GRCm39) |
S154P |
probably benign |
Het |
Slco1c1 |
T |
A |
6: 141,487,855 (GRCm39) |
Y192* |
probably null |
Het |
Spag16 |
A |
G |
1: 70,764,025 (GRCm39) |
H615R |
possibly damaging |
Het |
Spata31h1 |
G |
A |
10: 82,122,063 (GRCm39) |
T3649I |
probably damaging |
Het |
Tas2r114 |
G |
A |
6: 131,666,728 (GRCm39) |
A100V |
possibly damaging |
Het |
U2af1l4 |
T |
C |
7: 30,264,544 (GRCm39) |
S103P |
probably benign |
Het |
Usp10 |
T |
C |
8: 120,668,847 (GRCm39) |
S383P |
probably damaging |
Het |
Vmn2r113 |
A |
G |
17: 23,167,137 (GRCm39) |
R505G |
probably benign |
Het |
Vmn2r75 |
A |
C |
7: 85,814,592 (GRCm39) |
D300E |
probably damaging |
Het |
Zfp318 |
T |
A |
17: 46,708,232 (GRCm39) |
|
probably null |
Het |
Zfp318 |
T |
C |
17: 46,716,865 (GRCm39) |
V999A |
probably damaging |
Het |
Zfp324 |
A |
T |
7: 12,702,810 (GRCm39) |
H58L |
probably damaging |
Het |
Zfp707 |
A |
G |
15: 75,846,967 (GRCm39) |
E339G |
possibly damaging |
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 |
|
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'- CATTGAGGCCTTTCCACTGG -3'
(R):5'- AAAGTCGGAGCCCTCTTAGAG -3'
Sequencing Primer
(F):5'- TGGTCCCCAGAGGCTACTC -3'
(R):5'- CCAAGGTGAGTTCAGTGACTC -3'
|
Posted On |
2019-06-26 |