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 |
SAST170, SAST, 9430008B02Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02370
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
84911903-84937359 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 84912254 bp (GRCm38)
|
| 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 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148573
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153215
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155942
|
| 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 |
|---|
| 1300017J02Rik |
A |
G |
9: 103,263,074 (GRCm38) |
V482A |
probably benign |
Het |
| 4732471J01Rik |
T |
C |
7: 25,384,888 (GRCm38) |
|
probably benign |
Het |
| Abra |
T |
C |
15: 41,869,244 (GRCm38) |
D142G |
probably damaging |
Het |
| Aldh9a1 |
A |
G |
1: 167,356,532 (GRCm38) |
N199D |
probably damaging |
Het |
| Baz2b |
A |
T |
2: 59,923,589 (GRCm38) |
I1130N |
possibly damaging |
Het |
| Cacna1s |
A |
G |
1: 136,085,347 (GRCm38) |
I312V |
probably damaging |
Het |
| Chrd |
A |
G |
16: 20,735,791 (GRCm38) |
M367V |
possibly damaging |
Het |
| Clec12a |
C |
T |
6: 129,354,576 (GRCm38) |
A160V |
possibly damaging |
Het |
| Cnnm1 |
T |
C |
19: 43,471,950 (GRCm38) |
|
probably null |
Het |
| Cntnap3 |
A |
T |
13: 64,751,751 (GRCm38) |
M976K |
probably benign |
Het |
| Cyp27b1 |
T |
C |
10: 127,050,674 (GRCm38) |
|
probably benign |
Het |
| Ddx54 |
T |
A |
5: 120,619,787 (GRCm38) |
L226Q |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,635,397 (GRCm38) |
V407A |
probably benign |
Het |
| Elp4 |
A |
G |
2: 105,794,592 (GRCm38) |
S201P |
probably damaging |
Het |
| Exoc3 |
A |
T |
13: 74,192,761 (GRCm38) |
V308D |
probably benign |
Het |
| Exosc3 |
A |
G |
4: 45,319,671 (GRCm38) |
I117T |
probably damaging |
Het |
| Gbx2 |
A |
T |
1: 89,929,149 (GRCm38) |
|
probably benign |
Het |
| Gm4858 |
A |
G |
3: 93,074,047 (GRCm38) |
D124G |
possibly damaging |
Het |
| Hnf1b |
A |
C |
11: 83,882,733 (GRCm38) |
T253P |
possibly damaging |
Het |
| Itih5 |
A |
T |
2: 10,186,975 (GRCm38) |
Y107F |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,710,935 (GRCm38) |
N677S |
probably benign |
Het |
| Knstrn |
T |
A |
2: 118,823,788 (GRCm38) |
|
probably null |
Het |
| Lin9 |
G |
T |
1: 180,688,018 (GRCm38) |
C451F |
probably damaging |
Het |
| Mroh4 |
A |
G |
15: 74,625,541 (GRCm38) |
F144L |
probably benign |
Het |
| Myrf |
T |
C |
19: 10,214,140 (GRCm38) |
N945D |
probably benign |
Het |
| Nfrkb |
G |
A |
9: 31,389,012 (GRCm38) |
G33D |
probably benign |
Het |
| Olfr1036 |
C |
A |
2: 86,074,788 (GRCm38) |
T16K |
probably damaging |
Het |
| P2ry13 |
T |
C |
3: 59,209,465 (GRCm38) |
I297M |
probably damaging |
Het |
| Pcdhb21 |
T |
A |
18: 37,514,592 (GRCm38) |
|
probably null |
Het |
| Pitpnm3 |
A |
G |
11: 72,051,858 (GRCm38) |
Y868H |
probably benign |
Het |
| Pou2f3 |
G |
A |
9: 43,137,348 (GRCm38) |
R266W |
probably damaging |
Het |
| Rcn3 |
T |
C |
7: 45,083,333 (GRCm38) |
S304G |
probably benign |
Het |
| Rinl |
A |
G |
7: 28,794,972 (GRCm38) |
|
probably null |
Het |
| Sema5a |
T |
C |
15: 32,682,299 (GRCm38) |
|
probably benign |
Het |
| Sipa1l2 |
A |
G |
8: 125,480,269 (GRCm38) |
L565P |
probably damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,877,629 (GRCm38) |
I656T |
probably benign |
Het |
| Sptan1 |
A |
G |
2: 30,030,740 (GRCm38) |
K2404R |
probably damaging |
Het |
| Tarsl2 |
C |
A |
7: 65,661,165 (GRCm38) |
P314Q |
probably benign |
Het |
| Tbc1d14 |
C |
T |
5: 36,495,218 (GRCm38) |
V627I |
possibly damaging |
Het |
| Tfcp2 |
A |
T |
15: 100,512,304 (GRCm38) |
V394D |
probably damaging |
Het |
| Trerf1 |
C |
T |
17: 47,314,461 (GRCm38) |
|
noncoding transcript |
Het |
| Ucp2 |
A |
G |
7: 100,498,384 (GRCm38) |
N190S |
probably damaging |
Het |
| Vmn2r124 |
A |
G |
17: 18,064,191 (GRCm38) |
Q498R |
probably benign |
Het |
| Yeats2 |
T |
A |
16: 20,150,471 (GRCm38) |
I4N |
probably damaging |
Het |
| Zfp574 |
T |
G |
7: 25,079,589 (GRCm38) |
I12S |
possibly damaging |
Het |
| Zscan29 |
T |
A |
2: 121,163,833 (GRCm38) |
E522V |
probably benign |
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 |
|
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 |
|
|
R1454:Mast1
|
UTSW |
8 |
84,920,635 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation