Incidental Mutation 'R0727:Mast1'
| ID |
200650 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mast1
|
| Ensembl Gene |
ENSMUSG00000053693 |
| Gene Name |
microtubule associated serine/threonine kinase 1 |
| Synonyms |
9430008B02Rik, SAST, SAST170 |
| MMRRC Submission |
038909-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0727 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
85638532-85663988 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85648044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 479
(Y479C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109741]
[ENSMUST00000119820]
|
| AlphaFold |
Q9R1L5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109741
AA Change: Y479C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105363
Gene: ENSMUSG00000053693
AA Change: Y479C
| 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: Y479C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113547
Gene: ENSMUSG00000053693
AA Change: Y479C
| 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
|
| Meta Mutation Damage Score |
0.9210 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.1%
|
| Validation Efficiency |
99% (70/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3b |
T |
C |
5: 26,016,937 (GRCm39) |
V83A |
possibly damaging |
Het |
| Adam2 |
A |
G |
14: 66,267,180 (GRCm39) |
I693T |
probably damaging |
Het |
| Adamts1 |
T |
C |
16: 85,595,536 (GRCm39) |
D214G |
possibly damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,154,781 (GRCm39) |
Y36* |
probably null |
Het |
| Cacna1d |
A |
G |
14: 29,852,072 (GRCm39) |
|
probably null |
Het |
| Catsperb |
G |
T |
12: 101,560,614 (GRCm39) |
|
probably null |
Het |
| Ccdc88b |
T |
C |
19: 6,831,582 (GRCm39) |
M482V |
probably benign |
Het |
| Cemip |
T |
C |
7: 83,610,786 (GRCm39) |
K723E |
probably benign |
Het |
| Cep112 |
G |
A |
11: 108,397,380 (GRCm39) |
R375H |
probably damaging |
Het |
| Cpne7 |
T |
C |
8: 123,853,025 (GRCm39) |
S211P |
probably damaging |
Het |
| Csde1 |
A |
G |
3: 102,950,954 (GRCm39) |
T191A |
probably benign |
Het |
| Dapk3 |
A |
G |
10: 81,026,096 (GRCm39) |
Y129C |
probably damaging |
Het |
| Dlc1 |
A |
G |
8: 37,039,828 (GRCm39) |
V1027A |
probably damaging |
Het |
| Ergic2 |
T |
A |
6: 148,100,898 (GRCm39) |
|
probably benign |
Het |
| Evpl |
T |
C |
11: 116,123,311 (GRCm39) |
H307R |
probably damaging |
Het |
| Faah |
A |
G |
4: 115,862,257 (GRCm39) |
I242T |
probably damaging |
Het |
| Farsa |
T |
A |
8: 85,587,933 (GRCm39) |
|
probably null |
Het |
| Fat3 |
A |
C |
9: 15,907,995 (GRCm39) |
L2669R |
probably damaging |
Het |
| Fgfr4 |
C |
A |
13: 55,304,041 (GRCm39) |
|
probably null |
Het |
| Gnl3 |
A |
G |
14: 30,739,034 (GRCm39) |
S55P |
probably damaging |
Het |
| Grhl3 |
T |
A |
4: 135,273,565 (GRCm39) |
K562N |
possibly damaging |
Het |
| H2bl1 |
A |
G |
13: 99,120,735 (GRCm39) |
V97A |
probably benign |
Het |
| Hoxa9 |
A |
G |
6: 52,201,294 (GRCm39) |
V249A |
probably damaging |
Het |
| Hyal1 |
T |
C |
9: 107,455,601 (GRCm39) |
S304P |
possibly damaging |
Het |
| Igf1r |
T |
C |
7: 67,861,906 (GRCm39) |
|
probably null |
Het |
| Kif3c |
A |
G |
12: 3,416,776 (GRCm39) |
T266A |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,640,956 (GRCm39) |
D3496G |
probably benign |
Het |
| Man2b1 |
T |
G |
8: 85,818,155 (GRCm39) |
V442G |
probably damaging |
Het |
| Mei1 |
A |
G |
15: 81,954,350 (GRCm39) |
T52A |
probably benign |
Het |
| Micall1 |
A |
G |
15: 79,004,978 (GRCm39) |
D150G |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,590,221 (GRCm39) |
M2927V |
probably benign |
Het |
| Obi1 |
G |
C |
14: 104,717,624 (GRCm39) |
L250V |
probably damaging |
Het |
| Or11h6 |
G |
T |
14: 50,880,460 (GRCm39) |
V241L |
probably damaging |
Het |
| Or56b1b |
C |
T |
7: 108,164,315 (GRCm39) |
R229H |
probably benign |
Het |
| Or5an10 |
T |
C |
19: 12,276,458 (GRCm39) |
I13V |
probably benign |
Het |
| Or5w22 |
T |
A |
2: 87,363,245 (GRCm39) |
Y289* |
probably null |
Het |
| Or8k27 |
T |
C |
2: 86,276,282 (GRCm39) |
M15V |
probably benign |
Het |
| Or8k35 |
A |
T |
2: 86,424,724 (GRCm39) |
Y149* |
probably null |
Het |
| Pabpc2 |
A |
C |
18: 39,908,187 (GRCm39) |
Q484P |
probably benign |
Het |
| Pbld2 |
T |
A |
10: 62,903,298 (GRCm39) |
V125D |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,399,184 (GRCm39) |
T2083A |
possibly damaging |
Het |
| Pum2 |
A |
G |
12: 8,794,465 (GRCm39) |
E785G |
probably damaging |
Het |
| Qser1 |
A |
G |
2: 104,607,656 (GRCm39) |
|
probably benign |
Het |
| R3hcc1l |
A |
G |
19: 42,564,514 (GRCm39) |
D29G |
probably damaging |
Het |
| Rabep1 |
T |
A |
11: 70,791,318 (GRCm39) |
Y180* |
probably null |
Het |
| Rassf5 |
T |
C |
1: 131,109,002 (GRCm39) |
S140G |
probably damaging |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Resf1 |
A |
G |
6: 149,227,320 (GRCm39) |
N122S |
possibly damaging |
Het |
| Rfpl4 |
T |
A |
7: 5,118,292 (GRCm39) |
I93L |
probably benign |
Het |
| Ryr2 |
C |
T |
13: 11,581,771 (GRCm39) |
G4798D |
probably damaging |
Het |
| Scaf11 |
G |
A |
15: 96,317,324 (GRCm39) |
P747S |
probably damaging |
Het |
| Sgo2b |
T |
G |
8: 64,380,816 (GRCm39) |
K672T |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,765,645 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Ssh3 |
G |
T |
19: 4,314,019 (GRCm39) |
H439Q |
probably damaging |
Het |
| Steap3 |
T |
A |
1: 120,155,547 (GRCm39) |
T471S |
possibly damaging |
Het |
| Stk33 |
T |
A |
7: 108,920,725 (GRCm39) |
I208L |
probably damaging |
Het |
| Sucnr1 |
A |
G |
3: 59,994,081 (GRCm39) |
Y203C |
probably benign |
Het |
| Tlr11 |
T |
C |
14: 50,598,926 (GRCm39) |
I304T |
possibly damaging |
Het |
| Top2a |
A |
T |
11: 98,902,974 (GRCm39) |
C404* |
probably null |
Het |
| Trim43a |
G |
A |
9: 88,464,199 (GRCm39) |
E37K |
probably benign |
Het |
| Zcwpw1 |
T |
C |
5: 137,809,069 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,466,133 (GRCm39) |
H2097L |
probably damaging |
Het |
| Zfp874b |
T |
C |
13: 67,622,831 (GRCm39) |
K156E |
probably damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,630,386 (GRCm39) |
K1413E |
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 |
|
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 |
|
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'- AAGTGAGATCCTTGCCCTTCACCC -3'
(R):5'- TGTGACCAGACTTCTCTCTGAGTCC -3'
Sequencing Primer
(F):5'- CCTGGGTCTTCCAAGGAAC -3'
(R):5'- TCTGAGACTTGGAAAGGCTCC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation