Incidental Mutation 'IGL02896:Mastl'
| ID |
363408 |
| 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 # |
IGL02896
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
23006549-23046036 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23021779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 713
(R713G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028119]
|
| AlphaFold |
Q8C0P0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028119
AA Change: R713G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028119
Gene: ENSMUSG00000026779
AA Change: R713G
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402J07Rik |
A |
G |
8: 88,315,648 (GRCm39) |
D246G |
probably damaging |
Het |
| Adcy2 |
A |
G |
13: 68,875,991 (GRCm39) |
S504P |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,668,858 (GRCm39) |
I2566K |
probably damaging |
Het |
| Als2 |
A |
G |
1: 59,222,946 (GRCm39) |
V1108A |
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,008,151 (GRCm39) |
F466I |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,635,886 (GRCm39) |
M226V |
probably damaging |
Het |
| D5Ertd579e |
T |
C |
5: 36,771,326 (GRCm39) |
D1023G |
possibly damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,059,205 (GRCm39) |
I232V |
probably benign |
Het |
| Dolpp1 |
T |
C |
2: 30,286,242 (GRCm39) |
S114P |
probably damaging |
Het |
| Fars2 |
T |
A |
13: 36,388,825 (GRCm39) |
S105T |
probably benign |
Het |
| Fndc7 |
T |
C |
3: 108,770,247 (GRCm39) |
I560V |
probably benign |
Het |
| Gcn1 |
T |
C |
5: 115,757,707 (GRCm39) |
|
probably benign |
Het |
| Gm5134 |
T |
C |
10: 75,810,058 (GRCm39) |
L113P |
possibly damaging |
Het |
| Hipk2 |
G |
T |
6: 38,675,382 (GRCm39) |
H1066Q |
probably damaging |
Het |
| Katnb1 |
A |
G |
8: 95,822,656 (GRCm39) |
|
probably benign |
Het |
| Lrrd1 |
T |
A |
5: 3,901,473 (GRCm39) |
S593T |
probably benign |
Het |
| Meak7 |
T |
C |
8: 120,489,164 (GRCm39) |
D373G |
probably damaging |
Het |
| Mrgpra6 |
T |
A |
7: 46,838,655 (GRCm39) |
D181V |
probably benign |
Het |
| Mroh7 |
C |
T |
4: 106,557,013 (GRCm39) |
V828I |
possibly damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,468,360 (GRCm39) |
|
probably null |
Het |
| Nckap5l |
G |
T |
15: 99,325,091 (GRCm39) |
Q471K |
possibly damaging |
Het |
| Or12j5 |
T |
C |
7: 140,083,968 (GRCm39) |
|
probably null |
Het |
| Or1j15 |
A |
T |
2: 36,459,217 (GRCm39) |
L202F |
possibly damaging |
Het |
| Or5an1c |
A |
T |
19: 12,218,353 (GRCm39) |
L224* |
probably null |
Het |
| Pfn4 |
A |
G |
12: 4,825,451 (GRCm39) |
N96S |
probably benign |
Het |
| Ppp1r3c |
G |
A |
19: 36,710,865 (GRCm39) |
P302S |
probably benign |
Het |
| Senp2 |
T |
G |
16: 21,837,118 (GRCm39) |
Y122* |
probably null |
Het |
| Slc5a7 |
C |
A |
17: 54,600,045 (GRCm39) |
G123* |
probably null |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tent2 |
A |
T |
13: 93,304,945 (GRCm39) |
N280K |
probably damaging |
Het |
| Th |
C |
T |
7: 142,449,168 (GRCm39) |
R289Q |
probably damaging |
Het |
| Tigit |
C |
T |
16: 43,482,561 (GRCm39) |
V58I |
probably benign |
Het |
| Ush1c |
C |
A |
7: 45,847,839 (GRCm39) |
V810L |
probably benign |
Het |
| Vmn2r120 |
C |
A |
17: 57,816,008 (GRCm39) |
K782N |
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 |
|
IGL02826:Mastl
|
APN |
2 |
23,035,421 (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