Incidental Mutation 'R5235:Mast1'
ID |
398307 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mast1
|
Ensembl Gene |
ENSMUSG00000053693 |
Gene Name |
microtubule associated serine/threonine kinase 1 |
Synonyms |
9430008B02Rik, SAST, SAST170 |
MMRRC Submission |
042807-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5235 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
85638532-85663988 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 85640068 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 1113
(L1113Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105363
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003910]
[ENSMUST00000109741]
[ENSMUST00000109744]
[ENSMUST00000119820]
[ENSMUST00000134569]
[ENSMUST00000145292]
|
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 damaging
Transcript: ENSMUST00000109741
AA Change: L1113Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105363 Gene: ENSMUSG00000053693 AA Change: L1113Q
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 |
probably benign
Transcript: ENSMUST00000134569
|
SMART Domains |
Protein: ENSMUSP00000117198 Gene: ENSMUSG00000003812
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:DNase_II
|
20 |
119 |
6.6e-32 |
PFAM |
Pfam:DNase_II
|
115 |
182 |
4.3e-15 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135219
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148573
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155942
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153000
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153215
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145292
|
SMART Domains |
Protein: ENSMUSP00000138203 Gene: ENSMUSG00000003812
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:DNase_II
|
20 |
97 |
2.4e-21 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
C |
A |
7: 41,274,256 (GRCm39) |
H126Q |
possibly damaging |
Het |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Aga |
A |
G |
8: 53,967,361 (GRCm39) |
H124R |
probably damaging |
Het |
Ank1 |
G |
A |
8: 23,572,212 (GRCm39) |
G49R |
probably damaging |
Het |
Aox1 |
G |
T |
1: 58,096,714 (GRCm39) |
V270L |
possibly damaging |
Het |
Arfrp1 |
T |
C |
2: 181,001,298 (GRCm39) |
H145R |
probably benign |
Het |
Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
Atg3 |
A |
G |
16: 44,979,520 (GRCm39) |
T20A |
probably benign |
Het |
C3ar1 |
A |
G |
6: 122,827,881 (GRCm39) |
L112P |
probably damaging |
Het |
Clip2 |
G |
A |
5: 134,551,645 (GRCm39) |
T159M |
possibly damaging |
Het |
Csmd3 |
T |
C |
15: 47,492,674 (GRCm39) |
T3156A |
probably benign |
Het |
Dag1 |
T |
C |
9: 108,084,897 (GRCm39) |
Y748C |
probably damaging |
Het |
Dek |
A |
T |
13: 47,239,955 (GRCm39) |
|
probably null |
Het |
Fras1 |
G |
A |
5: 96,748,609 (GRCm39) |
V695M |
probably benign |
Het |
Gpx7 |
A |
G |
4: 108,258,189 (GRCm39) |
S135P |
probably damaging |
Het |
Ido2 |
A |
T |
8: 25,037,202 (GRCm39) |
I168N |
probably damaging |
Het |
Lca5 |
A |
T |
9: 83,305,107 (GRCm39) |
L233* |
probably null |
Het |
Liph |
A |
C |
16: 21,802,785 (GRCm39) |
L95V |
probably damaging |
Het |
Nlrx1 |
C |
T |
9: 44,175,047 (GRCm39) |
G243D |
probably damaging |
Het |
Or4ac1-ps1 |
G |
A |
2: 88,370,769 (GRCm39) |
|
noncoding transcript |
Het |
Or5d40 |
T |
A |
2: 88,015,912 (GRCm39) |
D230E |
probably benign |
Het |
Otoa |
T |
C |
7: 120,755,693 (GRCm39) |
L1033P |
probably damaging |
Het |
Ovol3 |
A |
T |
7: 29,932,899 (GRCm39) |
Y179N |
possibly damaging |
Het |
Papss2 |
A |
G |
19: 32,616,619 (GRCm39) |
N215S |
probably benign |
Het |
Pcdhga8 |
T |
C |
18: 37,860,488 (GRCm39) |
Y515H |
probably damaging |
Het |
Phlda1 |
CCAGCCCCAACCTCAGCCCCAACCTCAGCCCCAACC |
CCAGCCCCAACCTCAGCCCCAACC |
10: 111,343,252 (GRCm39) |
|
probably benign |
Het |
Scn2a |
A |
T |
2: 65,582,355 (GRCm39) |
N1568Y |
probably damaging |
Het |
Sec16b |
A |
T |
1: 157,362,334 (GRCm39) |
I251F |
probably benign |
Het |
Slc29a4 |
T |
A |
5: 142,704,523 (GRCm39) |
I355N |
probably damaging |
Het |
Snx29 |
G |
T |
16: 11,231,110 (GRCm39) |
C39F |
possibly damaging |
Het |
Spata16 |
A |
G |
3: 26,721,781 (GRCm39) |
M101V |
probably benign |
Het |
Stat2 |
T |
C |
10: 128,126,901 (GRCm39) |
|
probably null |
Het |
Tdpoz8 |
A |
G |
3: 92,981,393 (GRCm39) |
D137G |
probably damaging |
Het |
Tnrc6c |
G |
T |
11: 117,651,555 (GRCm39) |
V1693F |
probably benign |
Het |
Tpm3 |
A |
G |
3: 89,993,802 (GRCm39) |
E97G |
probably damaging |
Het |
Ugt8a |
A |
C |
3: 125,661,129 (GRCm39) |
H454Q |
probably damaging |
Het |
Vmn2r27 |
T |
A |
6: 124,169,013 (GRCm39) |
I706L |
probably damaging |
Het |
Wdfy3 |
T |
C |
5: 101,994,972 (GRCm39) |
I3256V |
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 |
|
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'- ATTAGGCGTGCTGGAAGCTG -3'
(R):5'- TACTGCCTAGTCTAGAACCGG -3'
Sequencing Primer
(F):5'- GGTGCAAACATTCTGAGCAC -3'
(R):5'- CTAGTCTAGAACCGGGGTGG -3'
|
Posted On |
2016-07-06 |