Incidental Mutation 'IGL02826:Mastl'
| ID |
361214 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mastl
|
| Ensembl Gene |
ENSMUSG00000026779 |
| Gene Name |
microtubule associated serine/threonine kinase-like |
| Synonyms |
2700091H24Rik, THC2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02826
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
23115606-23156024 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23145409 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 169
(I169V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028119]
|
| AlphaFold |
Q8C0P0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028119
AA Change: I169V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028119
Gene: ENSMUSG00000026779
AA Change: I169V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
34 |
194 |
2.6e-24 |
PFAM |
|
Pfam:Pkinase
|
34 |
200 |
2.3e-39 |
PFAM |
|
low complexity region
|
297 |
313 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
710 |
821 |
6.4e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
714 |
818 |
5.1e-6 |
PFAM |
|
S_TK_X
|
822 |
864 |
2.01e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136207
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a microtubule-associated serine/threonine kinase. Mutations at this locus have been associated with autosomal dominant thrombocytopenia, also known as thrombocytopenia-2. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality and mitotic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110004E09Rik |
A |
C |
16: 90,926,062 |
D261E |
probably benign |
Het |
| 1810041L15Rik |
A |
G |
15: 84,420,129 |
|
probably benign |
Het |
| 4930404N11Rik |
A |
G |
10: 81,364,736 |
|
probably benign |
Het |
| A3galt2 |
T |
C |
4: 128,761,509 |
|
probably benign |
Het |
| Alk |
C |
T |
17: 71,869,536 |
G1591D |
probably damaging |
Het |
| Angptl2 |
T |
C |
2: 33,228,315 |
S34P |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,489,291 |
V137A |
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,366,770 |
M845V |
probably damaging |
Het |
| Camk1d |
A |
G |
2: 5,565,760 |
V30A |
possibly damaging |
Het |
| Ceacam19 |
G |
A |
7: 19,882,610 |
T193I |
probably benign |
Het |
| Chst15 |
T |
A |
7: 132,266,746 |
D315V |
probably damaging |
Het |
| Cux1 |
G |
T |
5: 136,308,003 |
P885Q |
probably damaging |
Het |
| Cyth1 |
C |
T |
11: 118,185,481 |
E88K |
possibly damaging |
Het |
| Dido1 |
A |
G |
2: 180,683,958 |
V479A |
probably benign |
Het |
| Dlc1 |
G |
T |
8: 36,570,275 |
|
probably benign |
Het |
| H2-Ab1 |
G |
A |
17: 34,264,911 |
R82Q |
probably damaging |
Het |
| Hps6 |
T |
A |
19: 46,006,041 |
*806K |
probably null |
Het |
| Ilf3 |
T |
C |
9: 21,398,044 |
S486P |
probably benign |
Het |
| Kdm1b |
C |
A |
13: 47,080,467 |
T759K |
probably damaging |
Het |
| Kirrel |
C |
A |
3: 87,088,485 |
V381F |
probably damaging |
Het |
| Kmt2b |
A |
T |
7: 30,577,144 |
V1701E |
probably damaging |
Het |
| Lrmda |
T |
C |
14: 22,828,737 |
Y100H |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,962,148 |
E1576G |
probably damaging |
Het |
| Nek3 |
A |
T |
8: 22,160,368 |
|
probably null |
Het |
| Nipal3 |
G |
T |
4: 135,468,550 |
Y247* |
probably null |
Het |
| Nt5e |
A |
C |
9: 88,355,705 |
K229N |
probably damaging |
Het |
| Olfr237-ps1 |
A |
G |
6: 43,153,577 |
I91V |
possibly damaging |
Het |
| Olfr974 |
G |
T |
9: 39,942,958 |
G233C |
probably damaging |
Het |
| Opa1 |
A |
G |
16: 29,610,887 |
M290V |
probably null |
Het |
| Parp2 |
T |
A |
14: 50,815,415 |
I155K |
probably benign |
Het |
| Pde4dip |
G |
T |
3: 97,767,087 |
A171E |
probably damaging |
Het |
| Prom2 |
C |
T |
2: 127,531,116 |
E678K |
probably benign |
Het |
| Rab12 |
A |
G |
17: 66,498,116 |
|
probably benign |
Het |
| Rgs8 |
A |
T |
1: 153,670,799 |
T13S |
probably damaging |
Het |
| Setd3 |
A |
G |
12: 108,112,124 |
|
probably benign |
Het |
| Slx4ip |
G |
A |
2: 137,004,973 |
V53I |
probably damaging |
Het |
| Stil |
A |
G |
4: 115,024,098 |
D613G |
probably benign |
Het |
| Tjp3 |
T |
A |
10: 81,273,689 |
S858C |
probably damaging |
Het |
| Tmem215 |
A |
G |
4: 40,474,632 |
*236W |
probably null |
Het |
| Ttbk1 |
A |
G |
17: 46,470,660 |
V389A |
probably benign |
Het |
| Wdfy4 |
A |
G |
14: 32,971,750 |
F2706S |
possibly damaging |
Het |
| Xpo4 |
C |
A |
14: 57,629,420 |
V222L |
possibly damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,400,904 |
S428G |
probably benign |
Het |
| Zfp286 |
T |
C |
11: 62,787,960 |
Q47R |
probably damaging |
Het |
| Zfp318 |
A |
G |
17: 46,398,754 |
K468E |
probably damaging |
Het |
|
| Other mutations in Mastl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01080:Mastl
|
APN |
2 |
23,146,148 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02103:Mastl
|
APN |
2 |
23,139,998 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02622:Mastl
|
APN |
2 |
23,132,845 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL02896:Mastl
|
APN |
2 |
23,131,767 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03024:Mastl
|
APN |
2 |
23,139,919 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03038:Mastl
|
APN |
2 |
23,140,615 (GRCm38) |
splice site |
probably benign |
|
|
R0600:Mastl
|
UTSW |
2 |
23,133,346 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0712:Mastl
|
UTSW |
2 |
23,150,993 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1168:Mastl
|
UTSW |
2 |
23,133,132 (GRCm38) |
missense |
probably benign |
0.06 |
|
R1750:Mastl
|
UTSW |
2 |
23,146,081 (GRCm38) |
nonsense |
probably null |
|
|
R1911:Mastl
|
UTSW |
2 |
23,132,680 (GRCm38) |
nonsense |
probably null |
|
|
R2051:Mastl
|
UTSW |
2 |
23,132,824 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R2859:Mastl
|
UTSW |
2 |
23,139,967 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3799:Mastl
|
UTSW |
2 |
23,140,492 (GRCm38) |
splice site |
probably benign |
|
|
R3840:Mastl
|
UTSW |
2 |
23,140,551 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4807:Mastl
|
UTSW |
2 |
23,132,843 (GRCm38) |
missense |
probably benign |
|
|
R4818:Mastl
|
UTSW |
2 |
23,137,026 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4845:Mastl
|
UTSW |
2 |
23,139,998 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5338:Mastl
|
UTSW |
2 |
23,133,491 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5364:Mastl
|
UTSW |
2 |
23,133,653 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6077:Mastl
|
UTSW |
2 |
23,155,794 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6158:Mastl
|
UTSW |
2 |
23,132,772 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R6450:Mastl
|
UTSW |
2 |
23,120,929 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6602:Mastl
|
UTSW |
2 |
23,132,677 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6788:Mastl
|
UTSW |
2 |
23,133,698 (GRCm38) |
missense |
probably benign |
0.22 |
|
R6908:Mastl
|
UTSW |
2 |
23,155,976 (GRCm38) |
start gained |
probably benign |
|
|
R7058:Mastl
|
UTSW |
2 |
23,133,413 (GRCm38) |
nonsense |
probably null |
|
|
R7233:Mastl
|
UTSW |
2 |
23,133,658 (GRCm38) |
missense |
probably benign |
|
|
R7249:Mastl
|
UTSW |
2 |
23,146,139 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7347:Mastl
|
UTSW |
2 |
23,133,389 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7371:Mastl
|
UTSW |
2 |
23,140,573 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7726:Mastl
|
UTSW |
2 |
23,140,795 (GRCm38) |
splice site |
probably null |
|
|
R8057:Mastl
|
UTSW |
2 |
23,133,554 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R8288:Mastl
|
UTSW |
2 |
23,133,359 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9101:Mastl
|
UTSW |
2 |
23,118,437 (GRCm38) |
makesense |
probably null |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation