Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03024:Mastl'

408073

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mastl

Ensembl Gene

ENSMUSG00000026779

Gene Name

microtubule associated serine/threonine kinase-like

Synonyms

2700091H24Rik, THC2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03024

Quality Score

Status

Chromosome

Chromosomal Location

23115606-23156024 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23139919 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 265 (L265P)

Ref Sequence

ENSEMBL: ENSMUSP00000028119 (fasta)

Gene Model

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

AlphaFold

Q8C0P0

Predicted Effect

probably damaging
Transcript: ENSMUST00000028119
AA Change: L265P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028119
Gene: ENSMUSG00000026779
AA Change: L265P

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

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
1700010I14Rik	T	C	17: 8,993,632 (GRCm38)	F257L	probably benign	Het
Aaas	A	G	15: 102,350,491 (GRCm38)		probably benign	Het
AI661453	C	T	17: 47,446,588 (GRCm38)	R57W	probably damaging	Het
Ank2	C	A	3: 126,955,870 (GRCm38)	E503D	probably damaging	Het
Bahd1	T	C	2: 118,916,116 (GRCm38)	V72A	probably damaging	Het
Bcl3	A	G	7: 19,809,134 (GRCm38)		probably benign	Het
Blnk	A	T	19: 40,994,002 (GRCm38)		probably benign	Het
Cd81	T	C	7: 143,067,352 (GRCm38)	I230T	probably benign	Het
Cdc20b	A	T	13: 113,091,042 (GRCm38)	R485S	possibly damaging	Het
Cenpp	C	A	13: 49,464,254 (GRCm38)	A273S	probably benign	Het
Cep295	A	G	9: 15,325,572 (GRCm38)	V2022A	probably benign	Het
Ces1d	C	A	8: 93,169,718 (GRCm38)		probably null	Het
Cfap61	C	A	2: 145,939,999 (GRCm38)		probably benign	Het
Col8a1	T	A	16: 57,628,364 (GRCm38)	H261L	unknown	Het
Cyp2j5	A	T	4: 96,629,523 (GRCm38)	M484K	probably benign	Het
D930020B18Rik	T	C	10: 121,685,622 (GRCm38)		probably benign	Het
Dhdds	A	T	4: 133,982,849 (GRCm38)	L203Q	probably damaging	Het
Dusp6	A	G	10: 99,266,294 (GRCm38)	T381A	probably damaging	Het
Elp1	A	G	4: 56,774,686 (GRCm38)		probably null	Het
Fnbp4	A	G	2: 90,751,179 (GRCm38)	D192G	probably benign	Het
Gbp2	G	T	3: 142,632,019 (GRCm38)	V299F	probably damaging	Het
Gfpt1	G	T	6: 87,053,831 (GRCm38)	V66F	probably damaging	Het
Heatr1	T	C	13: 12,407,509 (GRCm38)		probably benign	Het
Irf8	T	A	8: 120,753,358 (GRCm38)	S112T	probably damaging	Het
Jmy	G	T	13: 93,499,199 (GRCm38)	N36K	probably damaging	Het
Kcnt2	T	C	1: 140,570,455 (GRCm38)	I866T	probably benign	Het
Kif1c	A	T	11: 70,705,189 (GRCm38)	M210L	probably damaging	Het
Kng1	G	A	16: 23,074,692 (GRCm38)	V272I	possibly damaging	Het
Lrig2	A	C	3: 104,494,073 (GRCm38)	M166R	probably damaging	Het
Mmp27	A	G	9: 7,581,376 (GRCm38)	T547A	probably benign	Het
Myh4	T	C	11: 67,248,479 (GRCm38)	C541R	probably damaging	Het
Naip2	A	T	13: 100,189,354 (GRCm38)	F15L	possibly damaging	Het
Nipal1	G	T	5: 72,663,625 (GRCm38)		probably null	Het
Nrp2	A	T	1: 62,771,734 (GRCm38)	N645Y	probably damaging	Het
Or1j19	T	A	2: 36,786,846 (GRCm38)	F107Y	possibly damaging	Het
Or4g17	T	A	2: 111,379,590 (GRCm38)	F197I	possibly damaging	Het
Or7d9	T	A	9: 20,285,984 (GRCm38)	M103K	probably benign	Het
Plcl1	T	A	1: 55,695,787 (GRCm38)	S96T	probably damaging	Het
Prl2c1	A	C	13: 27,856,541 (GRCm38)	D139A	probably benign	Het
Prmt5	A	T	14: 54,516,598 (GRCm38)	M43K	possibly damaging	Het
Ptpn21	T	A	12: 98,680,056 (GRCm38)	M1048L	probably benign	Het
Ptprq	T	C	10: 107,685,566 (GRCm38)	E653G	possibly damaging	Het
Rbm6	A	G	9: 107,787,368 (GRCm38)	S689P	probably damaging	Het
Rtn3	A	G	19: 7,483,090 (GRCm38)		probably benign	Het
Shoc2	T	C	19: 54,003,027 (GRCm38)	I241T	probably benign	Het
Sipa1	A	T	19: 5,656,161 (GRCm38)	D380E	probably damaging	Het
Slc1a6	T	C	10: 78,814,608 (GRCm38)	V560A	probably benign	Het
Speer2	T	C	16: 69,858,115 (GRCm38)	H154R	possibly damaging	Het
Tlk1	A	T	2: 70,746,036 (GRCm38)	C247*	probably null	Het
Trim15	A	G	17: 36,866,893 (GRCm38)	L70P	probably damaging	Het
Ttc9b	T	C	7: 27,654,933 (GRCm38)	L148P	probably damaging	Het
Vwa8	C	T	14: 78,995,098 (GRCm38)	P627S	probably benign	Het

Other mutations in Mastl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01080:Mastl	APN	2	23,146,148 (GRCm38)	missense	probably damaging	1.00
IGL02103:Mastl	APN	2	23,139,998 (GRCm38)	missense	probably benign	0.01
IGL02622:Mastl	APN	2	23,132,845 (GRCm38)	missense	probably benign	0.12
IGL02826:Mastl	APN	2	23,145,409 (GRCm38)	missense	probably damaging	1.00
IGL02896:Mastl	APN	2	23,131,767 (GRCm38)	missense	probably damaging	1.00
IGL03038:Mastl	APN	2	23,140,615 (GRCm38)	splice site	probably benign
R0600:Mastl	UTSW	2	23,133,346 (GRCm38)	missense	probably benign	0.06
R0712:Mastl	UTSW	2	23,150,993 (GRCm38)	missense	probably damaging	1.00
R1168:Mastl	UTSW	2	23,133,132 (GRCm38)	missense	probably benign	0.06
R1750:Mastl	UTSW	2	23,146,081 (GRCm38)	nonsense	probably null
R1911:Mastl	UTSW	2	23,132,680 (GRCm38)	nonsense	probably null
R2051:Mastl	UTSW	2	23,132,824 (GRCm38)	missense	possibly damaging	0.49
R2859:Mastl	UTSW	2	23,139,967 (GRCm38)	missense	probably damaging	0.99
R3799:Mastl	UTSW	2	23,140,492 (GRCm38)	splice site	probably benign
R3840:Mastl	UTSW	2	23,140,551 (GRCm38)	missense	probably damaging	1.00
R4807:Mastl	UTSW	2	23,132,843 (GRCm38)	missense	probably benign
R4818:Mastl	UTSW	2	23,137,026 (GRCm38)	missense	probably benign	0.00
R4845:Mastl	UTSW	2	23,139,998 (GRCm38)	missense	probably benign	0.01
R5338:Mastl	UTSW	2	23,133,491 (GRCm38)	missense	probably benign	0.01
R5364:Mastl	UTSW	2	23,133,653 (GRCm38)	missense	probably benign	0.16
R6077:Mastl	UTSW	2	23,155,794 (GRCm38)	missense	probably damaging	0.99
R6158:Mastl	UTSW	2	23,132,772 (GRCm38)	missense	possibly damaging	0.92
R6450:Mastl	UTSW	2	23,120,929 (GRCm38)	missense	probably damaging	1.00
R6602:Mastl	UTSW	2	23,132,677 (GRCm38)	missense	probably benign	0.04
R6788:Mastl	UTSW	2	23,133,698 (GRCm38)	missense	probably benign	0.22
R6908:Mastl	UTSW	2	23,155,976 (GRCm38)	start gained	probably benign
R7058:Mastl	UTSW	2	23,133,413 (GRCm38)	nonsense	probably null
R7233:Mastl	UTSW	2	23,133,658 (GRCm38)	missense	probably benign
R7249:Mastl	UTSW	2	23,146,139 (GRCm38)	missense	probably damaging	1.00
R7347:Mastl	UTSW	2	23,133,389 (GRCm38)	missense	probably damaging	0.99
R7371:Mastl	UTSW	2	23,140,573 (GRCm38)	missense	probably damaging	1.00
R7726:Mastl	UTSW	2	23,140,795 (GRCm38)	splice site	probably null
R8057:Mastl	UTSW	2	23,133,554 (GRCm38)	missense	possibly damaging	0.75
R8288:Mastl	UTSW	2	23,133,359 (GRCm38)	missense	probably damaging	1.00
R9101:Mastl	UTSW	2	23,118,437 (GRCm38)	makesense	probably null

Posted On

2016-08-02