Mutagenetix > Incidental Mutation

Incidental Mutation 'R6158:Mastl'

489675

Institutional Source

Beutler Lab

Gene Symbol

Mastl

Ensembl Gene

ENSMUSG00000026779

Gene Name

microtubule associated serine/threonine kinase-like

Synonyms

THC2, 2700091H24Rik

MMRRC Submission

044305-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23006549-23046036 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 23022784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 646 (N646K)

Ref Sequence

ENSEMBL: ENSMUSP00000028119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028119]

AlphaFold

Q8C0P0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028119
AA Change: N646K

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028119
Gene: ENSMUSG00000026779
AA Change: N646K

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

0.2196

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.5%
20x: 92.6%

Validation Efficiency

98% (65/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,217,410 (GRCm39)	V793A	possibly damaging	Het
2900092C05Rik	A	G	7: 12,246,599 (GRCm39)	T32A	probably benign	Het
Adprhl1	C	T	8: 13,274,977 (GRCm39)	V594M	possibly damaging	Het
Ano3	A	T	2: 110,496,220 (GRCm39)	Y845N	probably damaging	Het
Arhgap24	A	T	5: 103,040,778 (GRCm39)	I575L	probably benign	Het
Aurka	A	C	2: 172,205,516 (GRCm39)		probably null	Het
C1qtnf5	A	T	9: 44,020,267 (GRCm39)		probably benign	Het
Cacnb2	A	G	2: 14,990,412 (GRCm39)	D454G	possibly damaging	Het
Chchd5	T	C	2: 128,972,437 (GRCm39)	L87P	probably damaging	Het
Col7a1	G	T	9: 108,793,671 (GRCm39)	R1377L	unknown	Het
Cpne8	A	C	15: 90,456,191 (GRCm39)	S191A	probably damaging	Het
Dhx30	A	T	9: 109,916,098 (GRCm39)	I671N	probably damaging	Het
Dnah12	A	T	14: 26,495,642 (GRCm39)	K1423N	possibly damaging	Het
Dnm3	T	C	1: 162,148,556 (GRCm39)	M272V	probably damaging	Het
Fat4	A	T	3: 39,037,411 (GRCm39)	S3688C	possibly damaging	Het
Frmpd1	A	T	4: 45,285,401 (GRCm39)	L1407F	probably damaging	Het
Fry	T	C	5: 150,378,037 (GRCm39)	S410P	probably damaging	Het
Gm11565	T	A	11: 99,805,744 (GRCm39)	C45*	probably null	Het
Gngt1	A	T	6: 3,994,311 (GRCm39)	R30*	probably null	Het
Htt	T	C	5: 35,064,430 (GRCm39)	I2943T	possibly damaging	Het
Kl	T	A	5: 150,912,318 (GRCm39)	M689K	possibly damaging	Het
Lmo7	T	A	14: 102,137,573 (GRCm39)	D247E	probably benign	Het
Mei4	G	T	9: 81,809,629 (GRCm39)	L237F	probably damaging	Het
Mettl27	C	T	5: 134,969,430 (GRCm39)	P170S	possibly damaging	Het
Mgam	T	A	6: 40,734,648 (GRCm39)	I896K	probably damaging	Het
Mix23	T	A	16: 35,910,299 (GRCm39)	V118D	probably damaging	Het
Moxd1	T	A	10: 24,160,675 (GRCm39)	C443S	probably damaging	Het
Myo18b	A	T	5: 113,022,038 (GRCm39)	N451K	probably benign	Het
Myo7b	T	C	18: 32,121,602 (GRCm39)	I768V	probably benign	Het
Nos1	A	C	5: 118,005,639 (GRCm39)	I120L	probably benign	Het
Nsd1	T	C	13: 55,393,434 (GRCm39)	V345A	probably benign	Het
Or1j15	A	T	2: 36,459,128 (GRCm39)	T173S	probably benign	Het
Or2aj5	C	A	16: 19,424,675 (GRCm39)	V248F	probably damaging	Het
Or4c11c	T	C	2: 88,661,490 (GRCm39)	F10L	probably damaging	Het
Or5t15	A	G	2: 86,681,859 (GRCm39)	L61P	possibly damaging	Het
Or8g50	C	T	9: 39,648,372 (GRCm39)	T87I	probably benign	Het
Pdzph1	T	G	17: 59,280,622 (GRCm39)	Q553H	probably damaging	Het
Piwil1	T	A	5: 128,824,940 (GRCm39)	L546*	probably null	Het
Pla2g4f	T	C	2: 120,131,552 (GRCm39)	T724A	probably benign	Het
Ralgapa2	A	T	2: 146,266,596 (GRCm39)	M660K	possibly damaging	Het
Rgsl1	T	C	1: 153,679,767 (GRCm39)	D103G	possibly damaging	Het
Rnf186	A	G	4: 138,694,565 (GRCm39)	D35G	probably damaging	Het
Rock2	A	G	12: 17,004,919 (GRCm39)	D424G	probably benign	Het
Scg2	A	T	1: 79,413,117 (GRCm39)	D495E	probably damaging	Het
Slc39a2	G	A	14: 52,131,681 (GRCm39)		probably null	Het
Snrnp48	T	A	13: 38,394,212 (GRCm39)	Y100*	probably null	Het
Spaca1	A	G	4: 34,029,176 (GRCm39)	M99T	probably damaging	Het
Specc1	T	G	11: 62,008,950 (GRCm39)	F235L	probably damaging	Het
St13	A	T	15: 81,283,802 (GRCm39)		probably null	Het
Swap70	T	A	7: 109,869,230 (GRCm39)	M341K	probably damaging	Het
Synj2	A	G	17: 6,036,487 (GRCm39)	D67G	probably benign	Het
Tmem135	T	A	7: 88,805,652 (GRCm39)	I251F	probably benign	Het
Tmem87a	A	T	2: 120,190,584 (GRCm39)		probably null	Het
Tom1l2	C	T	11: 60,123,753 (GRCm39)	D128N	probably damaging	Het
Tpx2	C	A	2: 152,715,024 (GRCm39)	H82N	probably benign	Het
Trip12	A	T	1: 84,738,733 (GRCm39)	C738S	possibly damaging	Het
Ttyh1	A	G	7: 4,128,561 (GRCm39)	T153A	probably benign	Het
Utrn	C	T	10: 12,566,566 (GRCm39)	G1199S	probably benign	Het
Vmn1r8	T	A	6: 57,013,274 (GRCm39)	N108K	probably benign	Het
Vmn2r63	T	A	7: 42,583,104 (GRCm39)	D37V	probably damaging	Het
Vwce	C	T	19: 10,621,585 (GRCm39)	R206C	possibly damaging	Het
Wrn	G	T	8: 33,809,200 (GRCm39)	F265L	probably damaging	Het
Zfp472	T	A	17: 33,197,363 (GRCm39)	C479*	probably null	Het
Zfp831	A	T	2: 174,485,651 (GRCm39)	T109S	possibly damaging	Het
Znfx1	G	T	2: 166,898,646 (GRCm39)	Q93K	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
R6077:Mastl	UTSW	2	23,045,806 (GRCm39)	missense	probably damaging	0.99
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'- GCAAGCACGTGTCTTAGCAG -3'
(R):5'- TCAGGCCTTAGAACCAGATAAAAG -3'

Sequencing Primer
(F):5'- CAAGCACGTGTCTTAGCAGGTTAC -3'
(R):5'- CTACTCTTTTGAAGAACCAAACACTG -3'

Posted On

2017-10-10