Incidental Mutation 'R1454:Mast1'
| ID |
162206 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mast1
|
| Ensembl Gene |
ENSMUSG00000053693 |
| Gene Name |
microtubule associated serine/threonine kinase 1 |
| Synonyms |
9430008B02Rik, SAST, SAST170 |
| MMRRC Submission |
039509-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1454 (G1)
|
| Quality Score |
90 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
85638532-85663988 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 85647264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 631
(P631L)
|
| 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: P631L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105363
Gene: ENSMUSG00000053693
AA Change: P631L
| 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: P631L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113547
Gene: ENSMUSG00000053693
AA Change: P631L
| 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 |
0.8709 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.2%
|
| Validation Efficiency |
97% (58/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts5 |
A |
G |
16: 85,666,881 (GRCm39) |
V537A |
possibly damaging |
Het |
| Adcy10 |
A |
T |
1: 165,342,949 (GRCm39) |
I272F |
possibly damaging |
Het |
| Adcy6 |
A |
G |
15: 98,502,609 (GRCm39) |
S2P |
probably damaging |
Het |
| Agap1 |
A |
G |
1: 89,765,528 (GRCm39) |
|
probably null |
Het |
| Aldh3a2 |
A |
G |
11: 61,155,928 (GRCm39) |
V116A |
probably benign |
Het |
| Ankdd1b |
A |
T |
13: 96,569,913 (GRCm39) |
|
probably null |
Het |
| Antxrl |
G |
A |
14: 33,782,906 (GRCm39) |
V233I |
probably damaging |
Het |
| Atp8b5 |
A |
G |
4: 43,302,590 (GRCm39) |
I38V |
probably benign |
Het |
| Atxn7l2 |
A |
G |
3: 108,115,748 (GRCm39) |
|
probably benign |
Het |
| Bfsp2 |
A |
T |
9: 103,357,424 (GRCm39) |
M1K |
probably null |
Het |
| Camsap3 |
T |
A |
8: 3,653,968 (GRCm39) |
I520N |
possibly damaging |
Het |
| Cenpc1 |
C |
T |
5: 86,161,369 (GRCm39) |
V854I |
possibly damaging |
Het |
| Csnk2a1 |
T |
C |
2: 152,099,347 (GRCm39) |
L88S |
probably damaging |
Het |
| Dcaf17 |
A |
G |
2: 70,903,517 (GRCm39) |
N171D |
probably damaging |
Het |
| Dctn1 |
G |
C |
6: 83,174,490 (GRCm39) |
A1077P |
possibly damaging |
Het |
| Dock1 |
T |
C |
7: 134,453,338 (GRCm39) |
|
probably benign |
Het |
| Egfr |
A |
T |
11: 16,839,920 (GRCm39) |
I645L |
probably benign |
Het |
| Gdpd1 |
T |
G |
11: 86,950,335 (GRCm39) |
K79N |
possibly damaging |
Het |
| Ggt5 |
A |
T |
10: 75,445,742 (GRCm39) |
L432F |
probably benign |
Het |
| Gm11060 |
A |
G |
2: 104,924,097 (GRCm39) |
T22A |
unknown |
Het |
| Gpr132 |
G |
A |
12: 112,815,860 (GRCm39) |
T322I |
possibly damaging |
Het |
| Grin1 |
G |
A |
2: 25,182,442 (GRCm39) |
R940* |
probably null |
Het |
| Hip1 |
T |
C |
5: 135,467,486 (GRCm39) |
T316A |
probably benign |
Het |
| Hnrnpm |
A |
G |
17: 33,885,462 (GRCm39) |
|
probably benign |
Het |
| Hsd3b5 |
G |
A |
3: 98,526,846 (GRCm39) |
T200I |
probably benign |
Het |
| Hspa9 |
A |
T |
18: 35,071,659 (GRCm39) |
L647H |
probably damaging |
Het |
| Itgad |
T |
C |
7: 127,791,309 (GRCm39) |
I727T |
probably benign |
Het |
| Kcnma1 |
T |
C |
14: 23,513,268 (GRCm39) |
D522G |
probably damaging |
Het |
| Lipf |
C |
T |
19: 33,948,132 (GRCm39) |
|
probably benign |
Het |
| Ly6i |
T |
C |
15: 74,854,904 (GRCm39) |
D2G |
possibly damaging |
Het |
| Mmp1b |
G |
C |
9: 7,386,693 (GRCm39) |
L144V |
probably damaging |
Het |
| Msh6 |
A |
G |
17: 88,292,186 (GRCm39) |
S314G |
probably benign |
Het |
| Myo5c |
G |
A |
9: 75,170,348 (GRCm39) |
V493I |
possibly damaging |
Het |
| Nefm |
A |
G |
14: 68,358,828 (GRCm39) |
L402P |
probably damaging |
Het |
| Nrxn2 |
T |
C |
19: 6,531,476 (GRCm39) |
F697S |
probably damaging |
Het |
| Or13c7b |
A |
T |
4: 43,820,639 (GRCm39) |
C241S |
probably damaging |
Het |
| Pex13 |
A |
G |
11: 23,599,422 (GRCm39) |
I363T |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,932,414 (GRCm39) |
R1082G |
possibly damaging |
Het |
| Psg28 |
A |
T |
7: 18,161,889 (GRCm39) |
S205T |
possibly damaging |
Het |
| Pxt1 |
C |
A |
17: 29,153,756 (GRCm39) |
V26L |
possibly damaging |
Het |
| Ripk2 |
G |
A |
4: 16,163,239 (GRCm39) |
T53M |
probably damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,741,161 (GRCm39) |
V495A |
probably benign |
Het |
| Snrpa |
T |
C |
7: 26,892,362 (GRCm39) |
K66R |
probably benign |
Het |
| Srgap1 |
T |
A |
10: 121,732,643 (GRCm39) |
E145V |
probably damaging |
Het |
| Suz12 |
A |
G |
11: 79,922,939 (GRCm39) |
T694A |
probably benign |
Het |
| Tatdn2 |
T |
A |
6: 113,681,288 (GRCm39) |
D440E |
probably benign |
Het |
| Tbc1d21 |
A |
G |
9: 58,270,096 (GRCm39) |
|
probably null |
Het |
| Tbc1d31 |
T |
A |
15: 57,815,034 (GRCm39) |
Y570* |
probably null |
Het |
| Tbc1d32 |
A |
T |
10: 56,053,575 (GRCm39) |
|
probably benign |
Het |
| Tdrd5 |
G |
C |
1: 156,087,406 (GRCm39) |
Q839E |
probably benign |
Het |
| Tecpr2 |
A |
G |
12: 110,935,387 (GRCm39) |
N1402S |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,953,153 (GRCm39) |
D921G |
probably damaging |
Het |
| Tll1 |
A |
G |
8: 64,491,524 (GRCm39) |
V803A |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trpm4 |
T |
C |
7: 44,966,480 (GRCm39) |
E461G |
probably damaging |
Het |
| Zp3 |
T |
A |
5: 136,013,042 (GRCm39) |
I152N |
probably 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 |
|
|
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'- TCGGAAGAAACTATGCTGCTTCACC -3'
(R):5'- TGGGCTATGGGGATCATTCTCTACG -3'
Sequencing Primer
(F):5'- CTATGCTGCTTCACCTCAAAAG -3'
(R):5'- AGCTCTTTGGACAGGTCATCAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation