Incidental Mutation 'R6077:Mastl'
| ID |
482773 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mastl
|
| Ensembl Gene |
ENSMUSG00000026779 |
| Gene Name |
microtubule associated serine/threonine kinase-like |
| Synonyms |
THC2, 2700091H24Rik |
| MMRRC Submission |
044238-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6077 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
23006549-23046036 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23045806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 23
(I23N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028117]
[ENSMUST00000028119]
|
| AlphaFold |
Q8C0P0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028117
|
| SMART Domains |
Protein: ENSMUSP00000028117
Gene: ENSMUSG00000026775
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
313 |
450 |
4.77e-23 |
SMART |
|
Pfam:Peptidase_M41
|
508 |
706 |
5.8e-77 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028119
AA Change: I23N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000028119
Gene: ENSMUSG00000026779
AA Change: I23N
| 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: ENSMUST00000125004
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136207
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147750
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149240
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
C |
T |
11: 100,410,583 (GRCm39) |
V132I |
probably benign |
Het |
| Adgrb3 |
A |
T |
1: 25,133,081 (GRCm39) |
L1335* |
probably null |
Het |
| Adgre5 |
A |
G |
8: 84,454,595 (GRCm39) |
S301P |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Aldh1b1 |
A |
G |
4: 45,802,525 (GRCm39) |
Y21C |
possibly damaging |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Ankrd7 |
T |
A |
6: 18,868,071 (GRCm39) |
S112R |
probably benign |
Het |
| Arhgap23 |
T |
A |
11: 97,382,058 (GRCm39) |
|
probably null |
Het |
| Atp4a |
G |
A |
7: 30,415,344 (GRCm39) |
M321I |
probably benign |
Het |
| C2cd4d |
A |
T |
3: 94,271,615 (GRCm39) |
R294W |
probably damaging |
Het |
| Carns1 |
T |
C |
19: 4,220,875 (GRCm39) |
I352V |
probably benign |
Het |
| Cdh17 |
T |
A |
4: 11,803,969 (GRCm39) |
S547R |
probably benign |
Het |
| Cdyl2 |
G |
T |
8: 117,316,129 (GRCm39) |
N286K |
probably damaging |
Het |
| Fam186a |
C |
A |
15: 99,840,584 (GRCm39) |
V1887L |
possibly damaging |
Het |
| Fat4 |
C |
T |
3: 39,056,951 (GRCm39) |
R4216C |
probably damaging |
Het |
| Fcamr |
T |
C |
1: 130,740,663 (GRCm39) |
W361R |
probably damaging |
Het |
| Helz2 |
G |
A |
2: 180,874,831 (GRCm39) |
P1888S |
probably benign |
Het |
| Itih1 |
A |
T |
14: 30,651,833 (GRCm39) |
F840L |
possibly damaging |
Het |
| Kansl2 |
T |
C |
15: 98,429,312 (GRCm39) |
D146G |
probably benign |
Het |
| Kcnk18 |
T |
C |
19: 59,223,746 (GRCm39) |
V297A |
probably damaging |
Het |
| Kif1a |
T |
C |
1: 92,982,618 (GRCm39) |
T720A |
possibly damaging |
Het |
| Kl |
C |
G |
5: 150,876,466 (GRCm39) |
F95L |
probably damaging |
Het |
| Large2 |
C |
T |
2: 92,196,915 (GRCm39) |
R423K |
probably benign |
Het |
| Lgals3bp |
A |
G |
11: 118,290,568 (GRCm39) |
V13A |
probably damaging |
Het |
| Lrrd1 |
A |
G |
5: 3,900,837 (GRCm39) |
I381V |
probably benign |
Het |
| Mettl23 |
T |
C |
11: 116,739,728 (GRCm39) |
V1A |
possibly damaging |
Het |
| Mindy2 |
A |
G |
9: 70,538,363 (GRCm39) |
V324A |
probably damaging |
Het |
| Mtmr4 |
T |
A |
11: 87,501,845 (GRCm39) |
L633Q |
probably damaging |
Het |
| Myh1 |
G |
A |
11: 67,102,273 (GRCm39) |
E855K |
probably damaging |
Het |
| Nin |
C |
T |
12: 70,066,006 (GRCm39) |
A2026T |
probably damaging |
Het |
| Nova2 |
G |
A |
7: 18,691,794 (GRCm39) |
A244T |
unknown |
Het |
| Or2w1 |
A |
T |
13: 21,317,463 (GRCm39) |
I173F |
probably benign |
Het |
| Otulin |
T |
C |
15: 27,611,696 (GRCm39) |
T166A |
probably benign |
Het |
| P2ry14 |
T |
A |
3: 59,022,798 (GRCm39) |
R230W |
probably damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,162,073 (GRCm39) |
E83G |
probably damaging |
Het |
| Raet1e |
C |
A |
10: 22,057,887 (GRCm39) |
T218N |
possibly damaging |
Het |
| Rsf1 |
GCGGCGGC |
GCGGCGGCGTCGGCGGC |
7: 97,229,135 (GRCm39) |
|
probably benign |
Het |
| Safb |
G |
A |
17: 56,909,956 (GRCm39) |
|
probably benign |
Het |
| Scn7a |
T |
A |
2: 66,527,940 (GRCm39) |
N850I |
probably damaging |
Het |
| Slc16a4 |
A |
G |
3: 107,208,381 (GRCm39) |
D297G |
possibly damaging |
Het |
| Tcf7l2 |
A |
T |
19: 55,905,868 (GRCm39) |
K278* |
probably null |
Het |
| Tesmin |
T |
C |
19: 3,439,260 (GRCm39) |
V104A |
possibly damaging |
Het |
| Tiam1 |
A |
G |
16: 89,594,918 (GRCm39) |
|
probably null |
Het |
| Tmc4 |
T |
C |
7: 3,670,526 (GRCm39) |
T522A |
probably damaging |
Het |
| Tmprss3 |
T |
A |
17: 31,408,141 (GRCm39) |
I274F |
possibly damaging |
Het |
| Topbp1 |
A |
G |
9: 103,210,189 (GRCm39) |
K916E |
probably damaging |
Het |
| Trdv1 |
A |
G |
14: 54,119,513 (GRCm39) |
D58G |
probably benign |
Het |
| Ube2g2 |
G |
T |
10: 77,458,139 (GRCm39) |
|
probably benign |
Het |
| Unc5d |
G |
T |
8: 29,165,335 (GRCm39) |
Q747K |
possibly damaging |
Het |
| Xpo6 |
A |
G |
7: 125,709,124 (GRCm39) |
V819A |
possibly damaging |
Het |
| Zan |
T |
A |
5: 137,412,559 (GRCm39) |
|
probably benign |
Het |
| Zfp317 |
T |
A |
9: 19,558,184 (GRCm39) |
W133R |
probably benign |
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 |
|
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'- GTACAGCAGCTCCAGAGTTTG -3'
(R):5'- AAAACAGCCCGTGTATCCGC -3'
Sequencing Primer
(F):5'- AGCAGCTCCAGAGTTTGTTCAAC -3'
(R):5'- CGTCGATGCCTGCTTACAG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation