Incidental Mutation 'R9557:Mast1'
ID |
720807 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mast1
|
Ensembl Gene |
ENSMUSG00000053693 |
Gene Name |
microtubule associated serine/threonine kinase 1 |
Synonyms |
9430008B02Rik, SAST, SAST170 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9557 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
85638532-85663988 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 85657474 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 101
(T101I)
|
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: T101I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105363 Gene: ENSMUSG00000053693 AA Change: T101I
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 |
possibly damaging
Transcript: ENSMUST00000119820
AA Change: T101I
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000113547 Gene: ENSMUSG00000053693 AA Change: T101I
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: 99.9%
- 10x: 99.6%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
T |
A |
3: 59,659,160 (GRCm39) |
N204K |
possibly damaging |
Het |
Aadacl2fm3 |
T |
G |
3: 59,784,654 (GRCm39) |
F376V |
possibly damaging |
Het |
Abca5 |
A |
G |
11: 110,197,109 (GRCm39) |
L523P |
probably damaging |
Het |
Adcy5 |
T |
C |
16: 35,091,327 (GRCm39) |
V590A |
probably damaging |
Het |
Alg1 |
A |
T |
16: 5,057,820 (GRCm39) |
D238V |
probably damaging |
Het |
Ankrd55 |
C |
A |
13: 112,485,347 (GRCm39) |
P187H |
probably damaging |
Het |
Aox4 |
G |
T |
1: 58,285,095 (GRCm39) |
V616F |
probably benign |
Het |
Apc |
C |
A |
18: 34,451,412 (GRCm39) |
H2769Q |
probably damaging |
Het |
Bach1 |
C |
G |
16: 87,516,603 (GRCm39) |
S381R |
probably benign |
Het |
C2cd2l |
G |
A |
9: 44,231,127 (GRCm39) |
A20V |
probably benign |
Het |
Catsperg1 |
T |
C |
7: 28,904,223 (GRCm39) |
D266G |
probably damaging |
Het |
Ces4a |
A |
G |
8: 105,869,527 (GRCm39) |
S233G |
possibly damaging |
Het |
Comp |
T |
A |
8: 70,829,854 (GRCm39) |
D359E |
probably benign |
Het |
Cyp2b13 |
A |
C |
7: 25,780,123 (GRCm39) |
N91T |
probably benign |
Het |
Dhx9 |
A |
C |
1: 153,333,292 (GRCm39) |
M1151R |
probably benign |
Het |
Dync2i2 |
G |
A |
2: 29,922,534 (GRCm39) |
A366V |
possibly damaging |
Het |
E2f5 |
G |
T |
3: 14,653,311 (GRCm39) |
L142F |
probably benign |
Het |
Egflam |
G |
T |
15: 7,241,656 (GRCm39) |
N917K |
probably damaging |
Het |
Ercc6l2 |
C |
T |
13: 63,989,936 (GRCm39) |
R254C |
probably damaging |
Het |
Erh |
G |
A |
12: 80,689,571 (GRCm39) |
P18S |
probably benign |
Het |
Fam110b |
T |
C |
4: 5,799,064 (GRCm39) |
S161P |
probably damaging |
Het |
Fam210a |
TAAAATGTTCCAAA |
TAAA |
18: 68,408,848 (GRCm39) |
|
probably null |
Het |
Fbn1 |
T |
C |
2: 125,180,458 (GRCm39) |
I1775V |
probably damaging |
Het |
Fry |
C |
A |
5: 150,389,781 (GRCm39) |
Q137K |
|
Het |
Gm4787 |
A |
T |
12: 81,426,074 (GRCm39) |
L28* |
probably null |
Het |
Gpr179 |
A |
G |
11: 97,235,029 (GRCm39) |
F434L |
probably damaging |
Het |
Grik2 |
T |
C |
10: 49,404,105 (GRCm39) |
Y252C |
probably damaging |
Het |
H1f0 |
C |
T |
15: 78,912,947 (GRCm39) |
P9L |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,459,617 (GRCm39) |
T829A |
possibly damaging |
Het |
Ing4 |
A |
G |
6: 125,025,354 (GRCm39) |
E245G |
probably benign |
Het |
Lgr4 |
C |
T |
2: 109,827,084 (GRCm39) |
A196V |
probably damaging |
Het |
Lrrc51 |
T |
A |
7: 101,562,329 (GRCm39) |
K176N |
probably benign |
Het |
Lrrc9 |
T |
A |
12: 72,532,981 (GRCm39) |
M950K |
probably benign |
Het |
Lrrd1 |
A |
T |
5: 3,901,432 (GRCm39) |
D579V |
probably damaging |
Het |
Magi3 |
C |
T |
3: 103,922,473 (GRCm39) |
A1415T |
probably benign |
Het |
Magi3 |
A |
C |
3: 103,924,933 (GRCm39) |
I1072S |
probably damaging |
Het |
Mccc1 |
A |
T |
3: 36,049,976 (GRCm39) |
V72E |
probably damaging |
Het |
Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
Megf8 |
A |
T |
7: 25,058,511 (GRCm39) |
Q2169L |
possibly damaging |
Het |
Mllt6 |
A |
G |
11: 97,564,310 (GRCm39) |
D342G |
probably benign |
Het |
Mycbp2 |
T |
A |
14: 103,372,697 (GRCm39) |
T4050S |
probably benign |
Het |
Nbeal1 |
A |
G |
1: 60,274,509 (GRCm39) |
T307A |
probably benign |
Het |
Or11g27 |
A |
G |
14: 50,771,552 (GRCm39) |
T228A |
probably benign |
Het |
Or52d3 |
T |
C |
7: 104,229,768 (GRCm39) |
I305T |
probably damaging |
Het |
Plat |
T |
C |
8: 23,262,669 (GRCm39) |
F125L |
probably benign |
Het |
Ppm1b |
T |
A |
17: 85,301,501 (GRCm39) |
M127K |
probably benign |
Het |
Ppp4r1 |
C |
A |
17: 66,110,258 (GRCm39) |
D52E |
probably benign |
Het |
Rasgrp3 |
T |
G |
17: 75,807,139 (GRCm39) |
I201S |
probably damaging |
Het |
Rfpl4b |
T |
A |
10: 38,696,870 (GRCm39) |
M244L |
probably benign |
Het |
Rhbdl3 |
A |
T |
11: 80,244,277 (GRCm39) |
H328L |
probably benign |
Het |
Rsad2 |
T |
A |
12: 26,495,521 (GRCm39) |
I325F |
probably damaging |
Het |
Shank2 |
T |
C |
7: 143,963,847 (GRCm39) |
V485A |
probably benign |
Het |
Slc6a5 |
A |
G |
7: 49,561,474 (GRCm39) |
N2S |
probably benign |
Het |
Sox4 |
G |
T |
13: 29,136,913 (GRCm39) |
A31E |
probably damaging |
Het |
Suv39h2 |
A |
T |
2: 3,475,451 (GRCm39) |
C2S |
|
Het |
Tet2 |
A |
G |
3: 133,191,566 (GRCm39) |
I956T |
probably benign |
Het |
Topaz1 |
A |
G |
9: 122,578,530 (GRCm39) |
D480G |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
Ugt1a6b |
G |
T |
1: 88,034,820 (GRCm39) |
G53* |
probably null |
Het |
Vmn1r173 |
T |
C |
7: 23,402,209 (GRCm39) |
V148A |
probably damaging |
Het |
Vnn1 |
G |
A |
10: 23,776,723 (GRCm39) |
C358Y |
probably damaging |
Het |
Wdr89 |
A |
G |
12: 75,679,666 (GRCm39) |
V196A |
probably damaging |
Het |
Wfdc6a |
T |
A |
2: 164,425,758 (GRCm39) |
D71V |
possibly damaging |
Het |
Zc3h3 |
T |
C |
15: 75,711,145 (GRCm39) |
K439E |
probably damaging |
Het |
Zfp367 |
T |
C |
13: 64,300,586 (GRCm39) |
H73R |
probably damaging |
Het |
Zfp955a |
G |
A |
17: 33,461,107 (GRCm39) |
R342* |
probably null |
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 |
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 |
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'- AGGTTCCTAGGGAAATGCAGTG -3'
(R):5'- GTCCCAAAGAGACAGGATCC -3'
Sequencing Primer
(F):5'- ATGGGCCTCAGCGGAAGAC -3'
(R):5'- GGTATCTGAGCACCCTAT -3'
|
Posted On |
2022-08-09 |