Incidental Mutation 'R2859:Mastl'
| ID |
252614 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mastl
|
| Ensembl Gene |
ENSMUSG00000026779 |
| Gene Name |
microtubule associated serine/threonine kinase-like |
| Synonyms |
THC2, 2700091H24Rik |
| MMRRC Submission |
040449-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2859 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
23006549-23046036 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 23029979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 249
(C249F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028119]
|
| AlphaFold |
Q8C0P0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028119
AA Change: C249F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000028119
Gene: ENSMUSG00000026779
AA Change: C249F
| 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
|
| Meta Mutation Damage Score |
0.2242 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (40/40) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,500,288 (GRCm39) |
Y1301C |
possibly damaging |
Het |
| Amfr |
A |
T |
8: 94,731,842 (GRCm39) |
N11K |
probably damaging |
Het |
| Cadm3 |
A |
G |
1: 173,174,112 (GRCm39) |
S34P |
possibly damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,218,432 (GRCm39) |
|
probably null |
Het |
| Ceacam1 |
T |
A |
7: 25,173,442 (GRCm39) |
I249F |
probably damaging |
Het |
| Cuzd1 |
C |
T |
7: 130,917,863 (GRCm39) |
V246M |
probably damaging |
Het |
| Ehd2 |
A |
T |
7: 15,698,054 (GRCm39) |
V61E |
probably damaging |
Het |
| Fibin |
C |
T |
2: 110,192,542 (GRCm39) |
R200H |
probably damaging |
Het |
| Fmo9 |
A |
C |
1: 166,501,236 (GRCm39) |
F237C |
probably damaging |
Het |
| Garin3 |
T |
C |
11: 46,296,039 (GRCm39) |
I137T |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Iqgap3 |
C |
A |
3: 88,014,903 (GRCm39) |
S873* |
probably null |
Het |
| Ism2 |
T |
C |
12: 87,346,437 (GRCm39) |
M15V |
unknown |
Het |
| Itk |
T |
G |
11: 46,235,662 (GRCm39) |
|
probably benign |
Het |
| Mink1 |
T |
C |
11: 70,503,334 (GRCm39) |
V1143A |
probably damaging |
Het |
| Mrgprb4 |
T |
A |
7: 47,848,084 (GRCm39) |
R281S |
possibly damaging |
Het |
| Mthfd1 |
T |
C |
12: 76,335,699 (GRCm39) |
Y258H |
probably damaging |
Het |
| Ntmt1 |
A |
G |
2: 30,712,377 (GRCm39) |
H140R |
probably damaging |
Het |
| Or1j12 |
T |
C |
2: 36,343,142 (GRCm39) |
S182P |
probably benign |
Het |
| Or3a10 |
C |
T |
11: 73,935,653 (GRCm39) |
G149D |
possibly damaging |
Het |
| Or3a1b |
T |
C |
11: 74,012,808 (GRCm39) |
I231T |
probably damaging |
Het |
| Or9e1 |
T |
A |
11: 58,732,708 (GRCm39) |
V256E |
probably benign |
Het |
| Parm1 |
A |
G |
5: 91,742,165 (GRCm39) |
T178A |
possibly damaging |
Het |
| Patl1 |
T |
C |
19: 11,901,195 (GRCm39) |
F282L |
probably damaging |
Het |
| Phospho2 |
T |
C |
2: 69,626,195 (GRCm39) |
V117A |
possibly damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,008,906 (GRCm39) |
|
probably null |
Het |
| Pramel29 |
A |
G |
4: 143,936,192 (GRCm39) |
S23P |
probably benign |
Het |
| Rbm17 |
A |
G |
2: 11,595,515 (GRCm39) |
F230S |
possibly damaging |
Het |
| Robo3 |
C |
A |
9: 37,339,400 (GRCm39) |
G196* |
probably null |
Het |
| Samhd1 |
A |
G |
2: 156,948,149 (GRCm39) |
|
probably null |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Thbs4 |
A |
G |
13: 92,927,216 (GRCm39) |
F91S |
probably benign |
Het |
| Trim34b |
A |
T |
7: 103,985,439 (GRCm39) |
N358I |
probably benign |
Het |
| Ulk1 |
A |
G |
5: 110,942,495 (GRCm39) |
L255P |
probably damaging |
Het |
| Vmn2r104 |
T |
A |
17: 20,268,455 (GRCm39) |
I5F |
possibly damaging |
Het |
| Vrk2 |
C |
A |
11: 26,433,324 (GRCm39) |
S286I |
possibly damaging |
Het |
| Zswim3 |
T |
C |
2: 164,662,309 (GRCm39) |
L263P |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAGTGCTACAGACTGTCTAAAG -3'
(R):5'- CTGAAGATGAAGCTCTTAGTACTTG -3'
Sequencing Primer
(F):5'- GGTGGCTCACAACCATCTGTAATG -3'
(R):5'- GAACGAGTCAGTTCTCCTTCCAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation