Incidental Mutation 'IGL02370:Mast1'
| ID |
290900 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mast1
|
| Ensembl Gene |
ENSMUSG00000053693 |
| Gene Name |
microtubule associated serine/threonine kinase 1 |
| Synonyms |
9430008B02Rik, SAST, SAST170 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02370
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
85638532-85663988 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 85638883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 1482
(V1482G)
|
| 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 benign
Transcript: ENSMUST00000109741
AA Change: V1482G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105363
Gene: ENSMUSG00000053693
AA Change: V1482G
| 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: ENSMUST00000153215
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148573
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155942
|
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4732471J01Rik |
T |
C |
7: 25,084,313 (GRCm39) |
|
probably benign |
Het |
| Abra |
T |
C |
15: 41,732,640 (GRCm39) |
D142G |
probably damaging |
Het |
| Aldh9a1 |
A |
G |
1: 167,184,101 (GRCm39) |
N199D |
probably damaging |
Het |
| Baz2b |
A |
T |
2: 59,753,933 (GRCm39) |
I1130N |
possibly damaging |
Het |
| Cacna1s |
A |
G |
1: 136,013,085 (GRCm39) |
I312V |
probably damaging |
Het |
| Chrd |
A |
G |
16: 20,554,541 (GRCm39) |
M367V |
possibly damaging |
Het |
| Clec12a |
C |
T |
6: 129,331,539 (GRCm39) |
A160V |
possibly damaging |
Het |
| Cnnm1 |
T |
C |
19: 43,460,389 (GRCm39) |
|
probably null |
Het |
| Cntnap3 |
A |
T |
13: 64,899,565 (GRCm39) |
M976K |
probably benign |
Het |
| Cyp27b1 |
T |
C |
10: 126,886,543 (GRCm39) |
|
probably benign |
Het |
| Ddx54 |
T |
A |
5: 120,757,852 (GRCm39) |
L226Q |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,674,556 (GRCm39) |
V407A |
probably benign |
Het |
| Elp4 |
A |
G |
2: 105,624,937 (GRCm39) |
S201P |
probably damaging |
Het |
| Exoc3 |
A |
T |
13: 74,340,880 (GRCm39) |
V308D |
probably benign |
Het |
| Exosc3 |
A |
G |
4: 45,319,671 (GRCm39) |
I117T |
probably damaging |
Het |
| Gbx2 |
A |
T |
1: 89,856,871 (GRCm39) |
|
probably benign |
Het |
| Hnf1b |
A |
C |
11: 83,773,559 (GRCm39) |
T253P |
possibly damaging |
Het |
| Inhca |
A |
G |
9: 103,140,273 (GRCm39) |
V482A |
probably benign |
Het |
| Itih5 |
A |
T |
2: 10,191,786 (GRCm39) |
Y107F |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,781,159 (GRCm39) |
N677S |
probably benign |
Het |
| Knstrn |
T |
A |
2: 118,654,269 (GRCm39) |
|
probably null |
Het |
| Lin9 |
G |
T |
1: 180,515,583 (GRCm39) |
C451F |
probably damaging |
Het |
| Mroh4 |
A |
G |
15: 74,497,390 (GRCm39) |
F144L |
probably benign |
Het |
| Myrf |
T |
C |
19: 10,191,504 (GRCm39) |
N945D |
probably benign |
Het |
| Nfrkb |
G |
A |
9: 31,300,308 (GRCm39) |
G33D |
probably benign |
Het |
| Or5m9b |
C |
A |
2: 85,905,132 (GRCm39) |
T16K |
probably damaging |
Het |
| P2ry13 |
T |
C |
3: 59,116,886 (GRCm39) |
I297M |
probably damaging |
Het |
| Pcdhb21 |
T |
A |
18: 37,647,645 (GRCm39) |
|
probably null |
Het |
| Pitpnm3 |
A |
G |
11: 71,942,684 (GRCm39) |
Y868H |
probably benign |
Het |
| Pou2f3 |
G |
A |
9: 43,048,643 (GRCm39) |
R266W |
probably damaging |
Het |
| Rcn3 |
T |
C |
7: 44,732,757 (GRCm39) |
S304G |
probably benign |
Het |
| Rinl |
A |
G |
7: 28,494,397 (GRCm39) |
|
probably null |
Het |
| Sema5a |
T |
C |
15: 32,682,445 (GRCm39) |
|
probably benign |
Het |
| Sipa1l2 |
A |
G |
8: 126,207,008 (GRCm39) |
L565P |
probably damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,734,826 (GRCm39) |
I656T |
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,920,752 (GRCm39) |
K2404R |
probably damaging |
Het |
| Tars3 |
C |
A |
7: 65,310,913 (GRCm39) |
P314Q |
probably benign |
Het |
| Tbc1d14 |
C |
T |
5: 36,652,562 (GRCm39) |
V627I |
possibly damaging |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,354 (GRCm39) |
D124G |
possibly damaging |
Het |
| Tfcp2 |
A |
T |
15: 100,410,185 (GRCm39) |
V394D |
probably damaging |
Het |
| Trerf1 |
C |
T |
17: 47,625,387 (GRCm39) |
|
noncoding transcript |
Het |
| Ucp2 |
A |
G |
7: 100,147,591 (GRCm39) |
N190S |
probably damaging |
Het |
| Vmn2r124 |
A |
G |
17: 18,284,453 (GRCm39) |
Q498R |
probably benign |
Het |
| Yeats2 |
T |
A |
16: 19,969,221 (GRCm39) |
I4N |
probably damaging |
Het |
| Zfp574 |
T |
G |
7: 24,779,014 (GRCm39) |
I12S |
possibly damaging |
Het |
| Zscan29 |
T |
A |
2: 120,994,314 (GRCm39) |
E522V |
probably benign |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation