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 |
SAST170, SAST, 9430008B02Rik |
| 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 |
84911903-84937359 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 84920635 bp (GRCm38)
|
| 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: 85,869,993 (GRCm38) |
V537A |
possibly damaging |
Het |
| Adcy10 |
A |
T |
1: 165,515,380 (GRCm38) |
I272F |
possibly damaging |
Het |
| Adcy6 |
A |
G |
15: 98,604,728 (GRCm38) |
S2P |
probably damaging |
Het |
| Agap1 |
A |
G |
1: 89,837,806 (GRCm38) |
|
probably null |
Het |
| Aldh3a2 |
A |
G |
11: 61,265,102 (GRCm38) |
V116A |
probably benign |
Het |
| Ankdd1b |
A |
T |
13: 96,433,405 (GRCm38) |
|
probably null |
Het |
| Antxrl |
G |
A |
14: 34,060,949 (GRCm38) |
V233I |
probably damaging |
Het |
| Atp8b5 |
A |
G |
4: 43,302,590 (GRCm38) |
I38V |
probably benign |
Het |
| Atxn7l2 |
A |
G |
3: 108,208,432 (GRCm38) |
|
probably benign |
Het |
| Bfsp2 |
A |
T |
9: 103,480,225 (GRCm38) |
M1K |
probably null |
Het |
| Camsap3 |
T |
A |
8: 3,603,968 (GRCm38) |
I520N |
possibly damaging |
Het |
| Cenpc1 |
C |
T |
5: 86,013,510 (GRCm38) |
V854I |
possibly damaging |
Het |
| Csnk2a1 |
T |
C |
2: 152,257,427 (GRCm38) |
L88S |
probably damaging |
Het |
| Dcaf17 |
A |
G |
2: 71,073,173 (GRCm38) |
N171D |
probably damaging |
Het |
| Dctn1 |
G |
C |
6: 83,197,508 (GRCm38) |
A1077P |
possibly damaging |
Het |
| Dock1 |
T |
C |
7: 134,851,609 (GRCm38) |
|
probably benign |
Het |
| Egfr |
A |
T |
11: 16,889,920 (GRCm38) |
I645L |
probably benign |
Het |
| Gdpd1 |
T |
G |
11: 87,059,509 (GRCm38) |
K79N |
possibly damaging |
Het |
| Ggt5 |
A |
T |
10: 75,609,908 (GRCm38) |
L432F |
probably benign |
Het |
| Gm11060 |
A |
G |
2: 105,093,752 (GRCm38) |
T22A |
unknown |
Het |
| Gpr132 |
G |
A |
12: 112,852,240 (GRCm38) |
T322I |
possibly damaging |
Het |
| Grin1 |
G |
A |
2: 25,292,430 (GRCm38) |
R940* |
probably null |
Het |
| Hip1 |
T |
C |
5: 135,438,632 (GRCm38) |
T316A |
probably benign |
Het |
| Hnrnpm |
A |
G |
17: 33,666,488 (GRCm38) |
|
probably benign |
Het |
| Hsd3b5 |
G |
A |
3: 98,619,530 (GRCm38) |
T200I |
probably benign |
Het |
| Hspa9 |
A |
T |
18: 34,938,606 (GRCm38) |
L647H |
probably damaging |
Het |
| Itgad |
T |
C |
7: 128,192,137 (GRCm38) |
I727T |
probably benign |
Het |
| Kcnma1 |
T |
C |
14: 23,463,200 (GRCm38) |
D522G |
probably damaging |
Het |
| Lipf |
C |
T |
19: 33,970,732 (GRCm38) |
|
probably benign |
Het |
| Ly6i |
T |
C |
15: 74,983,055 (GRCm38) |
D2G |
possibly damaging |
Het |
| Mmp1b |
G |
C |
9: 7,386,693 (GRCm38) |
L144V |
probably damaging |
Het |
| Msh6 |
A |
G |
17: 87,984,758 (GRCm38) |
S314G |
probably benign |
Het |
| Myo5c |
G |
A |
9: 75,263,066 (GRCm38) |
V493I |
possibly damaging |
Het |
| Nefm |
A |
G |
14: 68,121,379 (GRCm38) |
L402P |
probably damaging |
Het |
| Nrxn2 |
T |
C |
19: 6,481,446 (GRCm38) |
F697S |
probably damaging |
Het |
| Olfr156 |
A |
T |
4: 43,820,639 (GRCm38) |
C241S |
probably damaging |
Het |
| Pex13 |
A |
G |
11: 23,649,422 (GRCm38) |
I363T |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,955,046 (GRCm38) |
R1082G |
possibly damaging |
Het |
| Psg28 |
A |
T |
7: 18,427,964 (GRCm38) |
S205T |
possibly damaging |
Het |
| Pxt1 |
C |
A |
17: 28,934,782 (GRCm38) |
V26L |
possibly damaging |
Het |
| Ripk2 |
G |
A |
4: 16,163,239 (GRCm38) |
T53M |
probably damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,883,964 (GRCm38) |
V495A |
probably benign |
Het |
| Snrpa |
T |
C |
7: 27,192,937 (GRCm38) |
K66R |
probably benign |
Het |
| Srgap1 |
T |
A |
10: 121,896,738 (GRCm38) |
E145V |
probably damaging |
Het |
| Suz12 |
A |
G |
11: 80,032,113 (GRCm38) |
T694A |
probably benign |
Het |
| Tatdn2 |
T |
A |
6: 113,704,327 (GRCm38) |
D440E |
probably benign |
Het |
| Tbc1d21 |
A |
G |
9: 58,362,813 (GRCm38) |
|
probably null |
Het |
| Tbc1d31 |
T |
A |
15: 57,951,638 (GRCm38) |
Y570* |
probably null |
Het |
| Tbc1d32 |
A |
T |
10: 56,177,479 (GRCm38) |
|
probably benign |
Het |
| Tdrd5 |
G |
C |
1: 156,259,836 (GRCm38) |
Q839E |
probably benign |
Het |
| Tecpr2 |
A |
G |
12: 110,968,953 (GRCm38) |
N1402S |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 118,122,672 (GRCm38) |
D921G |
probably damaging |
Het |
| Tll1 |
A |
G |
8: 64,038,490 (GRCm38) |
V803A |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,108,934 (GRCm38) |
R281C |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 73,025,967 (GRCm38) |
R377W |
probably damaging |
Het |
| Trpm4 |
T |
C |
7: 45,317,056 (GRCm38) |
E461G |
probably damaging |
Het |
| Zp3 |
T |
A |
5: 135,984,188 (GRCm38) |
I152N |
probably damaging |
Het |
|
| Other mutations in Mast1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01395:Mast1
|
APN |
8 |
84,912,815 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
IGL01862:Mast1
|
APN |
8 |
84,913,246 (GRCm38) |
splice site |
probably null |
|
|
IGL01918:Mast1
|
APN |
8 |
84,921,209 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02212:Mast1
|
APN |
8 |
84,921,397 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02221:Mast1
|
APN |
8 |
84,918,755 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02370:Mast1
|
APN |
8 |
84,912,254 (GRCm38) |
missense |
probably benign |
|
|
IGL02470:Mast1
|
APN |
8 |
84,921,212 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02596:Mast1
|
APN |
8 |
84,917,771 (GRCm38) |
missense |
probably benign |
|
|
IGL02716:Mast1
|
APN |
8 |
84,935,723 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02987:Mast1
|
APN |
8 |
84,925,719 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
IGL03287:Mast1
|
APN |
8 |
84,913,353 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0255:Mast1
|
UTSW |
8 |
84,912,021 (GRCm38) |
missense |
probably benign |
|
|
R0388:Mast1
|
UTSW |
8 |
84,915,537 (GRCm38) |
missense |
probably benign |
0.13 |
|
R0480:Mast1
|
UTSW |
8 |
84,913,089 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0727:Mast1
|
UTSW |
8 |
84,921,415 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1175:Mast1
|
UTSW |
8 |
84,925,327 (GRCm38) |
missense |
probably benign |
0.29 |
|
R1297:Mast1
|
UTSW |
8 |
84,912,716 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1328:Mast1
|
UTSW |
8 |
84,917,988 (GRCm38) |
intron |
probably benign |
|
|
R1532:Mast1
|
UTSW |
8 |
84,928,609 (GRCm38) |
nonsense |
probably null |
|
|
R1752:Mast1
|
UTSW |
8 |
84,925,336 (GRCm38) |
missense |
probably benign |
|
|
R1777:Mast1
|
UTSW |
8 |
84,912,068 (GRCm38) |
missense |
probably benign |
|
|
R1905:Mast1
|
UTSW |
8 |
84,916,266 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1906:Mast1
|
UTSW |
8 |
84,916,266 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1907:Mast1
|
UTSW |
8 |
84,916,266 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2056:Mast1
|
UTSW |
8 |
84,920,366 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2071:Mast1
|
UTSW |
8 |
84,921,194 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2145:Mast1
|
UTSW |
8 |
84,921,478 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2318:Mast1
|
UTSW |
8 |
84,921,125 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2842:Mast1
|
UTSW |
8 |
84,923,908 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3870:Mast1
|
UTSW |
8 |
84,918,731 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3895:Mast1
|
UTSW |
8 |
84,935,723 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3973:Mast1
|
UTSW |
8 |
84,918,764 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4405:Mast1
|
UTSW |
8 |
84,920,891 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4533:Mast1
|
UTSW |
8 |
84,921,361 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4725:Mast1
|
UTSW |
8 |
84,929,006 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4770:Mast1
|
UTSW |
8 |
84,929,246 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4776:Mast1
|
UTSW |
8 |
84,937,193 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4835:Mast1
|
UTSW |
8 |
84,923,779 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4871:Mast1
|
UTSW |
8 |
84,920,658 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4953:Mast1
|
UTSW |
8 |
84,918,728 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4960:Mast1
|
UTSW |
8 |
84,917,871 (GRCm38) |
missense |
probably benign |
|
|
R4978:Mast1
|
UTSW |
8 |
84,935,787 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5164:Mast1
|
UTSW |
8 |
84,913,518 (GRCm38) |
unclassified |
probably benign |
|
|
R5235:Mast1
|
UTSW |
8 |
84,913,439 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5297:Mast1
|
UTSW |
8 |
84,913,318 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5463:Mast1
|
UTSW |
8 |
84,925,507 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5546:Mast1
|
UTSW |
8 |
84,916,260 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5651:Mast1
|
UTSW |
8 |
84,928,968 (GRCm38) |
nonsense |
probably null |
|
|
R6124:Mast1
|
UTSW |
8 |
84,925,307 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6213:Mast1
|
UTSW |
8 |
84,915,569 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6717:Mast1
|
UTSW |
8 |
84,917,754 (GRCm38) |
missense |
probably benign |
|
|
R7000:Mast1
|
UTSW |
8 |
84,928,969 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7011:Mast1
|
UTSW |
8 |
84,911,945 (GRCm38) |
nonsense |
probably null |
|
|
R7164:Mast1
|
UTSW |
8 |
84,935,304 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7695:Mast1
|
UTSW |
8 |
84,920,928 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7845:Mast1
|
UTSW |
8 |
84,925,325 (GRCm38) |
nonsense |
probably null |
|
|
R7882:Mast1
|
UTSW |
8 |
84,913,318 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8167:Mast1
|
UTSW |
8 |
84,921,358 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8197:Mast1
|
UTSW |
8 |
84,912,821 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R8773:Mast1
|
UTSW |
8 |
84,916,324 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9477:Mast1
|
UTSW |
8 |
84,912,150 (GRCm38) |
missense |
probably benign |
0.18 |
|
R9526:Mast1
|
UTSW |
8 |
84,921,176 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9557:Mast1
|
UTSW |
8 |
84,930,845 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9655:Mast1
|
UTSW |
8 |
84,924,031 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0066:Mast1
|
UTSW |
8 |
84,920,878 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Mast1
|
UTSW |
8 |
84,918,681 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Mast1
|
UTSW |
8 |
84,912,459 (GRCm38) |
missense |
probably damaging |
0.97 |
|
Z1177:Mast1
|
UTSW |
8 |
84,920,446 (GRCm38) |
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