Incidental Mutation 'R8288:Mastl'
| ID |
638513 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mastl
|
| Ensembl Gene |
ENSMUSG00000026779 |
| Gene Name |
microtubule associated serine/threonine kinase-like |
| Synonyms |
2700091H24Rik, THC2 |
| MMRRC Submission |
067710-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8288 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
23115606-23156024 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23133359 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 451
(K451E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028119]
|
| AlphaFold |
Q8C0P0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028119
AA Change: K451E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028119
Gene: ENSMUSG00000026779
AA Change: K451E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3m2 |
C |
T |
8: 22,793,137 (GRCm38) |
A200T |
probably benign |
Het |
| Arpp19 |
T |
C |
9: 75,037,632 (GRCm38) |
M1T |
probably null |
Het |
| Baiap2 |
T |
A |
11: 119,997,639 (GRCm38) |
V407E |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,445,987 (GRCm38) |
T508A |
probably damaging |
Het |
| Cnnm3 |
C |
A |
1: 36,511,993 (GRCm38) |
A28E |
possibly damaging |
Het |
| Cpb1 |
A |
T |
3: 20,265,367 (GRCm38) |
C184* |
probably null |
Het |
| Ddb1 |
T |
C |
19: 10,608,348 (GRCm38) |
V142A |
probably benign |
Het |
| Disp2 |
T |
C |
2: 118,790,281 (GRCm38) |
V498A |
probably damaging |
Het |
| Dmgdh |
T |
C |
13: 93,708,824 (GRCm38) |
Y442H |
probably damaging |
Het |
| Eef2k |
T |
A |
7: 120,903,381 (GRCm38) |
M722K |
probably damaging |
Het |
| Erbb4 |
A |
G |
1: 68,298,350 (GRCm38) |
F603S |
probably damaging |
Het |
| Filip1l |
C |
T |
16: 57,570,554 (GRCm38) |
R502C |
probably damaging |
Het |
| Gbp9 |
C |
T |
5: 105,105,733 (GRCm38) |
V39M |
probably damaging |
Het |
| Gm17079 |
T |
C |
14: 51,694,358 (GRCm38) |
Y98C |
|
Het |
| Gstz1 |
A |
G |
12: 87,147,830 (GRCm38) |
M1V |
probably null |
Het |
| Hsd17b13 |
T |
G |
5: 103,963,835 (GRCm38) |
I281L |
probably benign |
Het |
| Hydin |
A |
G |
8: 110,507,029 (GRCm38) |
E1833G |
probably damaging |
Het |
| Irs1 |
G |
A |
1: 82,287,961 (GRCm38) |
Q845* |
probably null |
Het |
| Kctd11 |
C |
T |
11: 69,880,057 (GRCm38) |
G52R |
probably damaging |
Het |
| Kit |
T |
C |
5: 75,654,489 (GRCm38) |
S962P |
probably damaging |
Het |
| Lrrn1 |
C |
T |
6: 107,566,994 (GRCm38) |
|
probably benign |
Het |
| Mptx2 |
A |
G |
1: 173,274,789 (GRCm38) |
V111A |
probably benign |
Het |
| Nuak2 |
G |
T |
1: 132,327,841 (GRCm38) |
C178F |
probably damaging |
Het |
| Pah |
G |
A |
10: 87,538,185 (GRCm38) |
R71H |
probably benign |
Het |
| Pclo |
C |
A |
5: 14,712,871 (GRCm38) |
T501K |
|
Het |
| Pla2g4e |
C |
T |
2: 120,188,509 (GRCm38) |
|
probably null |
Het |
| Polq |
A |
G |
16: 37,027,910 (GRCm38) |
E293G |
probably damaging |
Het |
| Rptor |
G |
A |
11: 119,857,937 (GRCm38) |
E782K |
probably benign |
Het |
| Scn7a |
T |
A |
2: 66,675,974 (GRCm38) |
R1524W |
probably damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,226,255 (GRCm38) |
S46P |
probably benign |
Het |
| Srcap |
T |
A |
7: 127,531,356 (GRCm38) |
I664N |
probably damaging |
Het |
| Stk24 |
A |
C |
14: 121,293,429 (GRCm38) |
F372V |
possibly damaging |
Het |
| Szt2 |
T |
C |
4: 118,389,776 (GRCm38) |
S881G |
probably damaging |
Het |
| Trim40 |
T |
C |
17: 36,883,318 (GRCm38) |
D161G |
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,894,384 (GRCm38) |
H234R |
possibly damaging |
Het |
| Trpc1 |
T |
C |
9: 95,721,381 (GRCm38) |
K366R |
probably damaging |
Het |
| Ugt2b35 |
T |
C |
5: 87,001,457 (GRCm38) |
L189P |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,473,350 (GRCm38) |
S140G |
probably benign |
Het |
| Wdr60 |
A |
G |
12: 116,213,725 (GRCm38) |
F811S |
probably damaging |
Het |
| Zfp446 |
A |
G |
7: 12,977,958 (GRCm38) |
E36G |
probably benign |
Het |
| Zfp738 |
T |
A |
13: 67,670,789 (GRCm38) |
H361L |
possibly 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 |
|
IGL02826:Mastl
|
APN |
2 |
23,145,409 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
R9101:Mastl
|
UTSW |
2 |
23,118,437 (GRCm38) |
makesense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACATAAGGTTCTTTGCTATCGTTG -3'
(R):5'- TCTCTTGGGAAGCAAGGGAC -3'
Sequencing Primer
(F):5'- CTTTGCTATCGTTGGTATATGCAG -3'
(R):5'- CCCAGATAATGAGAACATGACCATTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation