Incidental Mutation 'R0388:Mast1'
ID |
31414 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mast1
|
Ensembl Gene |
ENSMUSG00000053693 |
Gene Name |
microtubule associated serine/threonine kinase 1 |
Synonyms |
9430008B02Rik, SAST, SAST170 |
MMRRC Submission |
038594-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0388 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
85638532-85663988 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 85642166 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 1063
(I1063L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105363
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003910]
[ENSMUST00000109741]
[ENSMUST00000109744]
[ENSMUST00000119820]
|
AlphaFold |
Q9R1L5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003910
|
SMART Domains |
Protein: ENSMUSP00000003910 Gene: ENSMUSG00000003812
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:DNase_II
|
21 |
349 |
5.8e-116 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109741
AA Change: I1063L
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000105363 Gene: ENSMUSG00000053693 AA Change: I1063L
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: ENSMUST00000109744
|
SMART Domains |
Protein: ENSMUSP00000105366 Gene: ENSMUSG00000003812
Domain | Start | End | E-Value | Type |
Pfam:DNase_II
|
9 |
328 |
4.8e-114 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119820
|
SMART Domains |
Protein: ENSMUSP00000113547 Gene: ENSMUSG00000053693
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: ENSMUST00000128400
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135219
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148573
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153000
|
Meta Mutation Damage Score |
0.0842 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 90.7%
|
Validation Efficiency |
100% (67/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
Acsbg1 |
T |
C |
9: 54,516,347 (GRCm39) |
K678R |
probably damaging |
Het |
Adgrg6 |
A |
G |
10: 14,326,402 (GRCm39) |
I410T |
probably benign |
Het |
Afap1l2 |
A |
C |
19: 56,905,674 (GRCm39) |
|
probably benign |
Het |
Aox1 |
T |
C |
1: 58,393,565 (GRCm39) |
Y1242H |
probably damaging |
Het |
Apoo-ps |
T |
C |
13: 107,551,173 (GRCm39) |
|
noncoding transcript |
Het |
Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
Cdh3 |
C |
A |
8: 107,265,761 (GRCm39) |
T268K |
probably damaging |
Het |
Chd5 |
T |
A |
4: 152,456,101 (GRCm39) |
H923Q |
probably damaging |
Het |
Chd7 |
T |
C |
4: 8,854,560 (GRCm39) |
V1967A |
probably benign |
Het |
Cntn3 |
T |
C |
6: 102,254,277 (GRCm39) |
M222V |
probably damaging |
Het |
Dcaf17 |
A |
G |
2: 70,908,915 (GRCm39) |
K277R |
probably benign |
Het |
Dmbt1 |
T |
C |
7: 130,697,779 (GRCm39) |
|
probably benign |
Het |
Dmpk |
T |
A |
7: 18,818,002 (GRCm39) |
|
probably benign |
Het |
Dzank1 |
A |
T |
2: 144,318,026 (GRCm39) |
L714Q |
possibly damaging |
Het |
Efcab3 |
A |
G |
11: 105,000,227 (GRCm39) |
D272G |
possibly damaging |
Het |
Erbb2 |
G |
C |
11: 98,318,177 (GRCm39) |
R471P |
possibly damaging |
Het |
Esf1 |
T |
A |
2: 139,962,791 (GRCm39) |
Y760F |
possibly damaging |
Het |
Fanci |
C |
A |
7: 79,089,378 (GRCm39) |
T938K |
probably benign |
Het |
Gnai3 |
A |
G |
3: 108,023,073 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
T |
A |
4: 137,238,469 (GRCm39) |
C319S |
probably damaging |
Het |
Il12a |
T |
A |
3: 68,602,520 (GRCm39) |
|
probably null |
Het |
Inpp4a |
A |
G |
1: 37,435,241 (GRCm39) |
D837G |
probably damaging |
Het |
Kcnj5 |
T |
A |
9: 32,229,159 (GRCm39) |
E13V |
probably damaging |
Het |
Kcnq3 |
T |
A |
15: 65,871,887 (GRCm39) |
Y594F |
probably benign |
Het |
Kif16b |
T |
C |
2: 142,582,857 (GRCm39) |
E556G |
probably damaging |
Het |
Kif28 |
T |
C |
1: 179,567,654 (GRCm39) |
I39V |
possibly damaging |
Het |
Lgi2 |
T |
C |
5: 52,711,891 (GRCm39) |
E143G |
probably damaging |
Het |
Med12l |
T |
C |
3: 59,000,925 (GRCm39) |
|
probably benign |
Het |
Mmp19 |
G |
T |
10: 128,634,752 (GRCm39) |
R456L |
probably benign |
Het |
Mon1b |
T |
A |
8: 114,365,710 (GRCm39) |
V346E |
probably damaging |
Het |
Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
Mrgpra9 |
A |
T |
7: 46,902,542 (GRCm39) |
M1K |
probably null |
Het |
Mycbp2 |
A |
T |
14: 103,394,103 (GRCm39) |
H2819Q |
probably benign |
Het |
Nav1 |
A |
C |
1: 135,376,655 (GRCm39) |
|
probably benign |
Het |
Neurl4 |
T |
C |
11: 69,802,559 (GRCm39) |
|
probably benign |
Het |
Ntng2 |
G |
C |
2: 29,097,438 (GRCm39) |
P341R |
probably damaging |
Het |
Oas1d |
A |
T |
5: 121,055,091 (GRCm39) |
Y221F |
probably damaging |
Het |
Or1j19 |
C |
A |
2: 36,676,874 (GRCm39) |
D112E |
probably benign |
Het |
Or1l4 |
A |
C |
2: 37,092,196 (GRCm39) |
|
probably null |
Het |
Or5al6 |
A |
G |
2: 85,976,974 (GRCm39) |
Y35H |
probably damaging |
Het |
Osbpl8 |
A |
G |
10: 111,108,143 (GRCm39) |
M380V |
probably benign |
Het |
Pank1 |
T |
C |
19: 34,799,106 (GRCm39) |
|
probably benign |
Het |
Parn |
T |
C |
16: 13,472,340 (GRCm39) |
D169G |
possibly damaging |
Het |
Pknox1 |
T |
A |
17: 31,822,166 (GRCm39) |
I311N |
probably damaging |
Het |
Pprc1 |
T |
C |
19: 46,051,214 (GRCm39) |
V248A |
possibly damaging |
Het |
Prkcq |
T |
C |
2: 11,259,045 (GRCm39) |
C322R |
probably benign |
Het |
Ptpn13 |
T |
A |
5: 103,702,928 (GRCm39) |
I1298N |
probably benign |
Het |
Rab11fip3 |
A |
G |
17: 26,288,046 (GRCm39) |
S36P |
probably benign |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Sass6 |
C |
A |
3: 116,400,957 (GRCm39) |
|
probably benign |
Het |
Shroom3 |
G |
A |
5: 93,099,152 (GRCm39) |
G1463D |
probably benign |
Het |
Slc35d1 |
A |
T |
4: 103,042,084 (GRCm39) |
Y249* |
probably null |
Het |
Slc9a3 |
C |
T |
13: 74,269,655 (GRCm39) |
P8S |
unknown |
Het |
Slc9a9 |
T |
A |
9: 94,821,616 (GRCm39) |
|
probably null |
Het |
Sting1 |
A |
G |
18: 35,868,164 (GRCm39) |
|
probably null |
Het |
Syne2 |
T |
A |
12: 76,033,749 (GRCm39) |
M3666K |
probably benign |
Het |
Synpo2 |
A |
G |
3: 122,873,546 (GRCm39) |
V1140A |
probably benign |
Het |
Thada |
A |
G |
17: 84,538,524 (GRCm39) |
F1495L |
probably benign |
Het |
Timeless |
A |
G |
10: 128,077,294 (GRCm39) |
|
probably null |
Het |
Tlr6 |
G |
T |
5: 65,112,548 (GRCm39) |
H120N |
possibly damaging |
Het |
Tns3 |
T |
C |
11: 8,395,703 (GRCm39) |
I1234V |
probably benign |
Het |
Ttll9 |
A |
G |
2: 152,842,099 (GRCm39) |
S318G |
probably benign |
Het |
Vps13c |
T |
C |
9: 67,830,197 (GRCm39) |
|
probably benign |
Het |
Zfp933 |
T |
C |
4: 147,910,899 (GRCm39) |
I232M |
probably benign |
Het |
Zfyve27 |
T |
C |
19: 42,178,024 (GRCm39) |
S382P |
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 |
|
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 |
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'- GGGACTGTTGGAATTGAAGGCACAC -3'
(R):5'- TGAGGTGGTAGAGCTGATCCTGAAG -3'
Sequencing Primer
(F):5'- CTCCTGTTGAAACAAGTCTAACCTG -3'
(R):5'- GCTGATCCTGAAGGTGAATGTAG -3'
|
Posted On |
2013-04-24 |