Incidental Mutation 'IGL01862:Mast1'
| ID |
178403 |
| 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 # |
IGL01862
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
85638532-85663988 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 85639875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113547
(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 null
Transcript: ENSMUST00000109741
|
| SMART Domains |
Protein: ENSMUSP00000105363
Gene: ENSMUSG00000053693
| 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 null
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: ENSMUST00000153000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153215
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155942
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148573
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
T |
11: 109,837,997 (GRCm39) |
S1085* |
probably null |
Het |
| Akap9 |
T |
G |
5: 4,001,705 (GRCm39) |
S94A |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,115,856 (GRCm39) |
N3425K |
probably damaging |
Het |
| Anapc7 |
T |
A |
5: 122,578,182 (GRCm39) |
I389N |
probably benign |
Het |
| Aqp7 |
G |
A |
4: 41,045,321 (GRCm39) |
R20* |
probably null |
Het |
| Cacna1h |
C |
T |
17: 25,602,457 (GRCm39) |
G1524R |
probably damaging |
Het |
| Cacng4 |
T |
C |
11: 107,685,196 (GRCm39) |
Y32C |
probably damaging |
Het |
| Cep120 |
A |
C |
18: 53,847,839 (GRCm39) |
S673R |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,135,986 (GRCm39) |
E19G |
possibly damaging |
Het |
| Cpxm2 |
C |
T |
7: 131,661,540 (GRCm39) |
V416I |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,874,424 (GRCm39) |
T427A |
probably benign |
Het |
| Ecm1 |
A |
T |
3: 95,641,586 (GRCm39) |
D549E |
probably benign |
Het |
| Efemp1 |
T |
A |
11: 28,871,428 (GRCm39) |
N342K |
probably damaging |
Het |
| Erc2 |
T |
C |
14: 27,993,526 (GRCm39) |
|
probably benign |
Het |
| Fhip2b |
C |
T |
14: 70,825,130 (GRCm39) |
R402H |
probably benign |
Het |
| Galnt13 |
T |
C |
2: 54,747,926 (GRCm39) |
V269A |
probably damaging |
Het |
| Gm6465 |
T |
G |
5: 11,899,020 (GRCm39) |
L171R |
probably damaging |
Het |
| Gpatch1 |
A |
G |
7: 34,994,703 (GRCm39) |
V521A |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,103,914 (GRCm39) |
V1087E |
possibly damaging |
Het |
| Ikzf2 |
A |
T |
1: 69,578,057 (GRCm39) |
V484D |
probably damaging |
Het |
| Ints4 |
T |
A |
7: 97,190,360 (GRCm39) |
V953E |
probably damaging |
Het |
| Iqce |
T |
C |
5: 140,685,480 (GRCm39) |
D15G |
possibly damaging |
Het |
| Kif3a |
T |
A |
11: 53,461,368 (GRCm39) |
N4K |
possibly damaging |
Het |
| Lrch4 |
A |
T |
5: 137,635,271 (GRCm39) |
I254F |
probably damaging |
Het |
| Ly75 |
A |
T |
2: 60,129,516 (GRCm39) |
V1623D |
probably damaging |
Het |
| Mapt |
T |
A |
11: 104,180,828 (GRCm39) |
|
probably benign |
Het |
| Mcc |
G |
T |
18: 44,892,363 (GRCm39) |
Q84K |
probably benign |
Het |
| Mgat4f |
G |
A |
1: 134,318,349 (GRCm39) |
V374I |
probably benign |
Het |
| Mtfr2 |
G |
A |
10: 20,224,149 (GRCm39) |
V28M |
probably benign |
Het |
| Myh8 |
T |
A |
11: 67,180,520 (GRCm39) |
Y585* |
probably null |
Het |
| Napsa |
T |
C |
7: 44,231,917 (GRCm39) |
V202A |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,001,080 (GRCm39) |
K199R |
probably null |
Het |
| Ntpcr |
C |
T |
8: 126,462,837 (GRCm39) |
A18V |
probably benign |
Het |
| Or2aj4 |
A |
T |
16: 19,385,426 (GRCm39) |
M69K |
probably damaging |
Het |
| Or2g25 |
G |
T |
17: 37,970,368 (GRCm39) |
N285K |
probably damaging |
Het |
| Or56b35 |
T |
A |
7: 104,963,439 (GRCm39) |
I76N |
probably damaging |
Het |
| Or5g9 |
G |
T |
2: 85,552,472 (GRCm39) |
C241F |
probably damaging |
Het |
| Or8b9 |
A |
G |
9: 37,766,477 (GRCm39) |
D121G |
probably damaging |
Het |
| Os9 |
A |
G |
10: 126,935,573 (GRCm39) |
V299A |
probably benign |
Het |
| Pcdhb7 |
T |
C |
18: 37,476,915 (GRCm39) |
S684P |
possibly damaging |
Het |
| Phf19 |
A |
C |
2: 34,787,067 (GRCm39) |
|
probably null |
Het |
| Pkd1l3 |
G |
A |
8: 110,357,908 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
A |
G |
1: 20,429,134 (GRCm39) |
I2422T |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,326,258 (GRCm39) |
V64E |
possibly damaging |
Het |
| Psme4 |
T |
A |
11: 30,762,038 (GRCm39) |
C459* |
probably null |
Het |
| Ptk6 |
T |
C |
2: 180,841,433 (GRCm39) |
S159G |
probably benign |
Het |
| Rhd |
T |
C |
4: 134,617,650 (GRCm39) |
I329T |
possibly damaging |
Het |
| Scfd1 |
A |
G |
12: 51,492,494 (GRCm39) |
Y601C |
probably damaging |
Het |
| Shroom3 |
T |
C |
5: 93,110,148 (GRCm39) |
S1753P |
probably damaging |
Het |
| Slc8a1 |
A |
C |
17: 81,749,630 (GRCm39) |
|
probably null |
Het |
| Spg7 |
T |
A |
8: 123,803,669 (GRCm39) |
L233Q |
probably damaging |
Het |
| Strip1 |
C |
A |
3: 107,529,198 (GRCm39) |
R353L |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,764,823 (GRCm39) |
N544D |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,204,469 (GRCm39) |
T4794A |
possibly damaging |
Het |
| Usp24 |
A |
G |
4: 106,266,095 (GRCm39) |
|
probably benign |
Het |
| Vmn1r193 |
A |
T |
13: 22,403,984 (GRCm39) |
C3S |
probably benign |
Het |
| Yju2b |
G |
T |
8: 84,987,163 (GRCm39) |
|
probably benign |
Het |
| Zdhhc5 |
C |
T |
2: 84,520,836 (GRCm39) |
R447H |
probably benign |
Het |
| Zfp202 |
A |
G |
9: 40,123,124 (GRCm39) |
I629V |
probably benign |
Het |
| Zfp462 |
T |
A |
4: 55,023,441 (GRCm39) |
C990S |
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 |
|
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation