Incidental Mutation 'R6602:Mastl'
ID |
525320 |
Institutional Source |
Beutler Lab
|
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 # |
R6602 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
23006549-23046036 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 23022689 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 678
(Y678C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028119
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028119]
|
AlphaFold |
Q8C0P0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028119
AA Change: Y678C
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000028119 Gene: ENSMUSG00000026779 AA Change: Y678C
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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
Validation Efficiency |
100% (43/43) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022B05Rik |
A |
G |
8: 125,365,993 (GRCm39) |
L250P |
probably damaging |
Het |
4921539E11Rik |
T |
C |
4: 103,112,769 (GRCm39) |
H12R |
probably benign |
Het |
Abca4 |
A |
C |
3: 121,932,150 (GRCm39) |
Q268P |
probably benign |
Het |
Adgrf5 |
T |
A |
17: 43,761,195 (GRCm39) |
N963K |
probably benign |
Het |
Arl10 |
A |
G |
13: 54,726,750 (GRCm39) |
D176G |
probably damaging |
Het |
Btnl1 |
T |
A |
17: 34,604,722 (GRCm39) |
M501K |
probably damaging |
Het |
Ccdc162 |
G |
T |
10: 41,491,976 (GRCm39) |
T1079K |
probably benign |
Het |
Cd163 |
T |
A |
6: 124,288,594 (GRCm39) |
W342R |
probably damaging |
Het |
Cd70 |
T |
C |
17: 57,456,562 (GRCm39) |
S14G |
probably benign |
Het |
Chil4 |
C |
A |
3: 106,117,906 (GRCm39) |
K121N |
probably benign |
Het |
Csf1r |
A |
G |
18: 61,243,497 (GRCm39) |
D171G |
possibly damaging |
Het |
Cyp4a31 |
A |
T |
4: 115,426,904 (GRCm39) |
|
probably null |
Het |
Dapk1 |
A |
T |
13: 60,897,018 (GRCm39) |
I746F |
probably benign |
Het |
Erbb4 |
A |
G |
1: 68,409,662 (GRCm39) |
S192P |
probably damaging |
Het |
Exoc8 |
C |
A |
8: 125,623,150 (GRCm39) |
V406L |
probably damaging |
Het |
Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
Greb1 |
A |
T |
12: 16,759,441 (GRCm39) |
V652E |
probably benign |
Het |
Ift88 |
A |
G |
14: 57,744,716 (GRCm39) |
S745G |
probably benign |
Het |
Il18bp |
T |
C |
7: 101,665,237 (GRCm39) |
|
probably benign |
Het |
Il6st |
A |
G |
13: 112,640,947 (GRCm39) |
T908A |
probably damaging |
Het |
Klk1b11 |
A |
G |
7: 43,424,198 (GRCm39) |
S6G |
probably benign |
Het |
Msra |
A |
T |
14: 64,360,788 (GRCm39) |
H184Q |
probably benign |
Het |
Muc16 |
A |
C |
9: 18,520,772 (GRCm39) |
|
probably null |
Het |
Myo3a |
T |
G |
2: 22,467,799 (GRCm39) |
L351R |
probably damaging |
Het |
Npy5r |
GCTGTGAAACACTG |
GCTG |
8: 67,134,192 (GRCm39) |
|
probably null |
Het |
Or4d2 |
T |
C |
11: 87,784,478 (GRCm39) |
T91A |
probably benign |
Het |
Or7d11 |
C |
T |
9: 19,966,342 (GRCm39) |
R139Q |
probably benign |
Het |
Or7g18 |
A |
G |
9: 18,787,145 (GRCm39) |
D174G |
possibly damaging |
Het |
Pcdhb18 |
A |
T |
18: 37,623,533 (GRCm39) |
I288F |
probably damaging |
Het |
Pitpna |
T |
G |
11: 75,511,141 (GRCm39) |
V238G |
possibly damaging |
Het |
Ppfibp1 |
T |
A |
6: 146,879,719 (GRCm39) |
V81E |
possibly damaging |
Het |
Rab11fip2 |
T |
A |
19: 59,931,288 (GRCm39) |
T49S |
probably damaging |
Het |
Rsl24d1 |
T |
A |
9: 73,020,792 (GRCm39) |
I3N |
possibly damaging |
Het |
Rtn1 |
T |
C |
12: 72,266,092 (GRCm39) |
N161S |
probably damaging |
Het |
Shank1 |
A |
G |
7: 44,001,760 (GRCm39) |
I1151V |
probably benign |
Het |
Slc34a3 |
A |
G |
2: 25,119,221 (GRCm39) |
S550P |
probably damaging |
Het |
Slc4a1ap |
A |
G |
5: 31,684,985 (GRCm39) |
H207R |
probably damaging |
Het |
Sphkap |
T |
A |
1: 83,253,479 (GRCm39) |
K1423N |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,712,097 (GRCm39) |
|
probably benign |
Het |
Ubqln5 |
T |
A |
7: 103,778,696 (GRCm39) |
S43C |
probably benign |
Het |
Vps13d |
G |
A |
4: 144,830,234 (GRCm39) |
|
probably benign |
Het |
Wwp1 |
A |
T |
4: 19,641,816 (GRCm39) |
V413D |
probably damaging |
Het |
Zfp267 |
G |
T |
3: 36,219,004 (GRCm39) |
L341F |
possibly 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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACTATCAGCTTCACTTTCATGCATG -3'
(R):5'- GTATCCAAGACAGTAGCCAAGTG -3'
Sequencing Primer
(F):5'- CGTGTCTTAGCAGGTTAC -3'
(R):5'- GTAGCCAAGTGTCAGCTCATC -3'
|
Posted On |
2018-06-22 |