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 |
THC2, 2700091H24Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02826
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
23006549-23046036 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23035421 bp (GRCm39)
|
| 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 |
|---|
| A3galt2 |
T |
C |
4: 128,655,302 (GRCm39) |
|
probably benign |
Het |
| Alk |
C |
T |
17: 72,176,531 (GRCm39) |
G1591D |
probably damaging |
Het |
| Angptl2 |
T |
C |
2: 33,118,327 (GRCm39) |
S34P |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,627,354 (GRCm39) |
V137A |
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,366,770 (GRCm39) |
M845V |
probably damaging |
Het |
| Camk1d |
A |
G |
2: 5,570,571 (GRCm39) |
V30A |
possibly damaging |
Het |
| Ceacam19 |
G |
A |
7: 19,616,535 (GRCm39) |
T193I |
probably benign |
Het |
| Cfap298 |
A |
C |
16: 90,722,950 (GRCm39) |
D261E |
probably benign |
Het |
| Chst15 |
T |
A |
7: 131,868,475 (GRCm39) |
D315V |
probably damaging |
Het |
| Cux1 |
G |
T |
5: 136,336,857 (GRCm39) |
P885Q |
probably damaging |
Het |
| Cyth1 |
C |
T |
11: 118,076,307 (GRCm39) |
E88K |
possibly damaging |
Het |
| Dido1 |
A |
G |
2: 180,325,751 (GRCm39) |
V479A |
probably benign |
Het |
| Dlc1 |
G |
T |
8: 37,037,429 (GRCm39) |
|
probably benign |
Het |
| H2-Ab1 |
G |
A |
17: 34,483,885 (GRCm39) |
R82Q |
probably damaging |
Het |
| Hps6 |
T |
A |
19: 45,994,480 (GRCm39) |
*806K |
probably null |
Het |
| Ilf3 |
T |
C |
9: 21,309,340 (GRCm39) |
S486P |
probably benign |
Het |
| Kdm1b |
C |
A |
13: 47,233,943 (GRCm39) |
T759K |
probably damaging |
Het |
| Kirrel1 |
C |
A |
3: 86,995,792 (GRCm39) |
V381F |
probably damaging |
Het |
| Kmt2b |
A |
T |
7: 30,276,569 (GRCm39) |
V1701E |
probably damaging |
Het |
| Lrmda |
T |
C |
14: 22,878,805 (GRCm39) |
Y100H |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,991,630 (GRCm39) |
E1576G |
probably damaging |
Het |
| Nek3 |
A |
T |
8: 22,650,384 (GRCm39) |
|
probably null |
Het |
| Nipal3 |
G |
T |
4: 135,195,861 (GRCm39) |
Y247* |
probably null |
Het |
| Nt5e |
A |
C |
9: 88,237,758 (GRCm39) |
K229N |
probably damaging |
Het |
| Opa1 |
A |
G |
16: 29,429,705 (GRCm39) |
M290V |
probably null |
Het |
| Or2a14 |
A |
G |
6: 43,130,511 (GRCm39) |
I91V |
possibly damaging |
Het |
| Or8d6 |
G |
T |
9: 39,854,254 (GRCm39) |
G233C |
probably damaging |
Het |
| Parp2 |
T |
A |
14: 51,052,872 (GRCm39) |
I155K |
probably benign |
Het |
| Pde4dip |
G |
T |
3: 97,674,403 (GRCm39) |
A171E |
probably damaging |
Het |
| Prom2 |
C |
T |
2: 127,373,036 (GRCm39) |
E678K |
probably benign |
Het |
| Rab12 |
A |
G |
17: 66,805,111 (GRCm39) |
|
probably benign |
Het |
| Rgs8 |
A |
T |
1: 153,546,545 (GRCm39) |
T13S |
probably damaging |
Het |
| Setd3 |
A |
G |
12: 108,078,383 (GRCm39) |
|
probably benign |
Het |
| Shisal1 |
A |
G |
15: 84,304,330 (GRCm39) |
|
probably benign |
Het |
| Slx4ip |
G |
A |
2: 136,846,893 (GRCm39) |
V53I |
probably damaging |
Het |
| Stil |
A |
G |
4: 114,881,295 (GRCm39) |
D613G |
probably benign |
Het |
| Tektip1 |
A |
G |
10: 81,200,570 (GRCm39) |
|
probably benign |
Het |
| Tjp3 |
T |
A |
10: 81,109,523 (GRCm39) |
S858C |
probably damaging |
Het |
| Tmem215 |
A |
G |
4: 40,474,632 (GRCm39) |
*236W |
probably null |
Het |
| Ttbk1 |
A |
G |
17: 46,781,586 (GRCm39) |
V389A |
probably benign |
Het |
| Wdfy4 |
A |
G |
14: 32,693,707 (GRCm39) |
F2706S |
possibly damaging |
Het |
| Xpo4 |
C |
A |
14: 57,866,877 (GRCm39) |
V222L |
possibly damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,236,809 (GRCm39) |
S428G |
probably benign |
Het |
| Zfp286 |
T |
C |
11: 62,678,786 (GRCm39) |
Q47R |
probably damaging |
Het |
| Zfp318 |
A |
G |
17: 46,709,680 (GRCm39) |
K468E |
probably damaging |
Het |
|
| Other mutations in Mastl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01080:Mastl
|
APN |
2 |
23,036,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02103:Mastl
|
APN |
2 |
23,030,010 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02622:Mastl
|
APN |
2 |
23,022,857 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02896:Mastl
|
APN |
2 |
23,021,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03024:Mastl
|
APN |
2 |
23,029,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03038:Mastl
|
APN |
2 |
23,030,627 (GRCm39) |
splice site |
probably benign |
|
|
R0600:Mastl
|
UTSW |
2 |
23,023,358 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0712:Mastl
|
UTSW |
2 |
23,041,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1168:Mastl
|
UTSW |
2 |
23,023,144 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1750:Mastl
|
UTSW |
2 |
23,036,093 (GRCm39) |
nonsense |
probably null |
|
|
R1911:Mastl
|
UTSW |
2 |
23,022,692 (GRCm39) |
nonsense |
probably null |
|
|
R2051:Mastl
|
UTSW |
2 |
23,022,836 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R2859:Mastl
|
UTSW |
2 |
23,029,979 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3799:Mastl
|
UTSW |
2 |
23,030,504 (GRCm39) |
splice site |
probably benign |
|
|
R3840:Mastl
|
UTSW |
2 |
23,030,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4807:Mastl
|
UTSW |
2 |
23,022,855 (GRCm39) |
missense |
probably benign |
|
|
R4818:Mastl
|
UTSW |
2 |
23,027,038 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4845:Mastl
|
UTSW |
2 |
23,030,010 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5338:Mastl
|
UTSW |
2 |
23,023,503 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5364:Mastl
|
UTSW |
2 |
23,023,665 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6077:Mastl
|
UTSW |
2 |
23,045,806 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6158:Mastl
|
UTSW |
2 |
23,022,784 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6450:Mastl
|
UTSW |
2 |
23,010,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6602:Mastl
|
UTSW |
2 |
23,022,689 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6788:Mastl
|
UTSW |
2 |
23,023,710 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6908:Mastl
|
UTSW |
2 |
23,045,988 (GRCm39) |
start gained |
probably benign |
|
|
R7058:Mastl
|
UTSW |
2 |
23,023,425 (GRCm39) |
nonsense |
probably null |
|
|
R7233:Mastl
|
UTSW |
2 |
23,023,670 (GRCm39) |
missense |
probably benign |
|
|
R7249:Mastl
|
UTSW |
2 |
23,036,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7347:Mastl
|
UTSW |
2 |
23,023,401 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7371:Mastl
|
UTSW |
2 |
23,030,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7726:Mastl
|
UTSW |
2 |
23,030,807 (GRCm39) |
splice site |
probably null |
|
|
R8057:Mastl
|
UTSW |
2 |
23,023,566 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8288:Mastl
|
UTSW |
2 |
23,023,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9101:Mastl
|
UTSW |
2 |
23,008,449 (GRCm39) |
makesense |
probably null |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation