Mutagenetix > Incidental Mutation

Incidental Mutation 'R6908:Mastl'

538847

Institutional Source

Beutler Lab

Gene Symbol

Mastl

Ensembl Gene

ENSMUSG00000026779

Gene Name

microtubule associated serine/threonine kinase-like

Synonyms

THC2, 2700091H24Rik

MMRRC Submission

045000-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6908 (G1)

Quality Score

132.008

Status

Validated

Chromosome

Chromosomal Location

23006549-23046036 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to C at 23045988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 benign
Transcript: ENSMUST00000028119

SMART Domains

Protein: ENSMUSP00000028119
Gene: ENSMUSG00000026779

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

95% (52/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	C	16: 56,477,668 (GRCm39)	I1197T	probably benign	Het
Atp2a1	A	G	7: 126,047,707 (GRCm39)		probably null	Het
B3glct	T	C	5: 149,619,941 (GRCm39)		probably null	Het
Bbs9	T	G	9: 22,479,019 (GRCm39)	I154S	probably damaging	Het
Brip1	T	C	11: 85,968,710 (GRCm39)	Y825C	probably damaging	Het
Ccdc186	A	T	19: 56,780,371 (GRCm39)		probably null	Het
Celf6	T	C	9: 59,511,106 (GRCm39)	V349A	probably benign	Het
Chd9	A	G	8: 91,683,044 (GRCm39)	T495A	probably benign	Het
Cxxc1	G	A	18: 74,353,630 (GRCm39)	C546Y	probably damaging	Het
Cxxc5	T	C	18: 35,992,268 (GRCm39)	V223A	probably damaging	Het
Dlc1	A	G	8: 37,404,841 (GRCm39)	F316S	probably benign	Het
Dnajc12	C	A	10: 63,233,104 (GRCm39)	Q82K	probably benign	Het
Dock8	G	A	19: 25,165,746 (GRCm39)	E1877K	probably damaging	Het
Epha3	T	G	16: 63,418,612 (GRCm39)	H611P	probably damaging	Het
Fpr-rs6	C	A	17: 20,402,701 (GRCm39)	C220F	probably damaging	Het
Fryl	A	G	5: 73,179,554 (GRCm39)	L2951P	probably damaging	Het
Gbp10	T	G	5: 105,368,898 (GRCm39)	T314P	probably damaging	Het
Hbb-bs	T	C	7: 103,476,741 (GRCm39)	N77D	probably benign	Het
Ints13	A	T	6: 146,456,531 (GRCm39)	D438E	probably damaging	Het
Itgb6	C	T	2: 60,480,365 (GRCm39)	V324M	probably benign	Het
Kdm7a	G	T	6: 39,121,373 (GRCm39)	L861M	possibly damaging	Het
Kirrel3	A	G	9: 34,924,697 (GRCm39)	T302A	possibly damaging	Het
Lama2	A	T	10: 26,907,192 (GRCm39)		probably null	Het
Lrp2	A	T	2: 69,302,709 (GRCm39)	C3007S	probably damaging	Het
Lypd3	G	C	7: 24,337,858 (GRCm39)	G75R	probably damaging	Het
Mcf2l	T	C	8: 13,068,919 (GRCm39)	V1087A	probably benign	Het
Mcmdc2	C	A	1: 10,001,003 (GRCm39)		probably null	Het
Ms4a3	A	G	19: 11,615,659 (GRCm39)	I39T	probably damaging	Het
Mylk	T	G	16: 34,700,643 (GRCm39)	C495G	probably benign	Het
Myo10	A	G	15: 25,804,469 (GRCm39)	D1588G	probably damaging	Het
Myo15a	A	T	11: 60,396,832 (GRCm39)	T2634S	probably damaging	Het
Nlrp1b	T	C	11: 71,108,122 (GRCm39)	I460V	probably benign	Het
Nmt1	T	G	11: 102,949,080 (GRCm39)	S312A	possibly damaging	Het
Nynrin	T	G	14: 56,101,335 (GRCm39)	S335A	probably benign	Het
Or2d4	T	C	7: 106,543,839 (GRCm39)	Y123C	possibly damaging	Het
Paxip1	T	C	5: 27,996,222 (GRCm39)	Y19C	possibly damaging	Het
Pcdhb2	G	T	18: 37,429,577 (GRCm39)	A517S	probably damaging	Het
Pkd2l1	A	G	19: 44,140,885 (GRCm39)	I559T	probably damaging	Het
Plec	G	A	15: 76,070,081 (GRCm39)	Q806*	probably null	Het
Prss51	C	T	14: 64,333,601 (GRCm39)	A70V	probably benign	Het
Psd3	A	T	8: 68,416,829 (GRCm39)	I356K	probably benign	Het
Ptprn2	A	T	12: 116,852,508 (GRCm39)	I522F	probably benign	Het
Rab39	T	C	9: 53,617,369 (GRCm39)	D16G	probably damaging	Het
Ralgps1	T	C	2: 33,033,112 (GRCm39)	Q439R	probably benign	Het
Rapgef2	A	T	3: 79,011,370 (GRCm39)	D238E	probably benign	Het
Ripor2	G	A	13: 24,890,215 (GRCm39)	G697S	probably damaging	Het
Scn11a	A	T	9: 119,621,492 (GRCm39)	F642I	probably damaging	Het
Serinc4	G	A	2: 121,284,086 (GRCm39)	T310I	probably benign	Het
Sfpq	GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC	GCCGCCGCAGCAGCC	4: 126,915,419 (GRCm39)		probably benign	Het
Slc36a3	T	C	11: 55,040,712 (GRCm39)		probably benign	Het
Smc1b	A	G	15: 84,991,211 (GRCm39)	S656P	probably damaging	Het
Sorbs1	A	G	19: 40,340,776 (GRCm39)	S455P	probably damaging	Het
Ttn	C	A	2: 76,720,202 (GRCm39)		probably benign	Het
Tyw5	T	C	1: 57,440,682 (GRCm39)	R27G	probably damaging	Het
Vmn1r209	T	C	13: 22,990,400 (GRCm39)	T97A	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
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
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'- TCTTGGTACCGGGATCCTAC -3'
(R):5'- TGACTGAGACTCGGAAGGAC -3'

Sequencing Primer
(F):5'- TACCGGGATCCTACTCACG -3'
(R):5'- GACTACATAAAGTCTTAGTCCCTTGC -3'

Posted On

2018-11-06