Incidental Mutation 'IGL01080:Mastl'
| ID |
50437 |
| 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 # |
IGL01080
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
23006549-23046036 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23036160 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 119
(S119P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028119]
|
| AlphaFold |
Q8C0P0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028119
AA Change: S119P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028119
Gene: ENSMUSG00000026779
AA Change: S119P
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,984,258 (GRCm39) |
R663W |
probably damaging |
Het |
| Cacng5 |
A |
T |
11: 107,768,754 (GRCm39) |
F179L |
probably damaging |
Het |
| Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
| Cd96 |
T |
C |
16: 45,870,056 (GRCm39) |
E471G |
possibly damaging |
Het |
| Cpt1c |
T |
C |
7: 44,610,333 (GRCm39) |
D621G |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,744,799 (GRCm39) |
I1503V |
probably benign |
Het |
| Dmgdh |
T |
C |
13: 93,840,286 (GRCm39) |
|
probably benign |
Het |
| Flg |
A |
T |
3: 93,186,906 (GRCm39) |
K119N |
probably benign |
Het |
| Gale |
T |
C |
4: 135,693,389 (GRCm39) |
Y104H |
probably damaging |
Het |
| Gm8005 |
T |
C |
14: 42,258,971 (GRCm39) |
D119G |
unknown |
Het |
| Gstk1 |
A |
T |
6: 42,223,560 (GRCm39) |
D50V |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,720,389 (GRCm39) |
D3866G |
unknown |
Het |
| Or2aj4 |
A |
T |
16: 19,384,958 (GRCm39) |
V225E |
probably damaging |
Het |
| Phf11c |
G |
A |
14: 59,630,648 (GRCm39) |
T19I |
probably benign |
Het |
| Ppp1r16b |
A |
G |
2: 158,599,092 (GRCm39) |
T355A |
probably damaging |
Het |
| Prmt7 |
T |
G |
8: 106,963,846 (GRCm39) |
|
probably benign |
Het |
| Rad50 |
T |
C |
11: 53,596,895 (GRCm39) |
T44A |
probably damaging |
Het |
| Rangap1 |
C |
T |
15: 81,589,953 (GRCm39) |
|
probably benign |
Het |
| Slc27a3 |
A |
T |
3: 90,292,767 (GRCm39) |
V634E |
probably benign |
Het |
| Tbxas1 |
T |
A |
6: 38,998,115 (GRCm39) |
L228I |
probably damaging |
Het |
| Tnfaip3 |
T |
C |
10: 18,887,403 (GRCm39) |
K41E |
probably benign |
Het |
| Tti1 |
C |
T |
2: 157,824,379 (GRCm39) |
V1025I |
probably damaging |
Het |
| Tyrobp |
T |
C |
7: 30,116,841 (GRCm39) |
|
probably null |
Het |
| Wfdc16 |
A |
T |
2: 164,480,406 (GRCm39) |
W30R |
probably damaging |
Het |
| Zyg11b |
A |
T |
4: 108,094,613 (GRCm39) |
L657Q |
probably damaging |
Het |
|
| Other mutations in Mastl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation