Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02622:Mastl'

300890

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mastl

Ensembl Gene

ENSMUSG00000026779

Gene Name

microtubule associated serine/threonine kinase-like

Synonyms

THC2, 2700091H24Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02622

Quality Score

Status

Chromosome

Chromosomal Location

23006549-23046036 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23022857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 622 (V622A)

Ref Sequence

ENSEMBL: ENSMUSP00000028119 (fasta)

Gene Model

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

AlphaFold

Q8C0P0

Predicted Effect

probably benign
Transcript: ENSMUST00000028119
AA Change: V622A

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000028119
Gene: ENSMUSG00000026779
AA Change: V622A

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	C	T	5: 109,887,101 (GRCm39)	V32M	possibly damaging	Het
Abca1	T	C	4: 53,034,046 (GRCm39)	D2228G	probably damaging	Het
Actr5	A	G	2: 158,480,728 (GRCm39)	K582R	probably benign	Het
Armc8	T	C	9: 99,409,122 (GRCm39)		probably benign	Het
Atp7b	T	C	8: 22,518,454 (GRCm39)	D128G	possibly damaging	Het
Cemip	C	A	7: 83,613,383 (GRCm39)	G605V	probably damaging	Het
Cep112	A	G	11: 108,409,509 (GRCm39)	H133R	probably benign	Het
Cops3	C	T	11: 59,723,864 (GRCm39)	D98N	probably benign	Het
Crlf3	T	C	11: 79,950,150 (GRCm39)	D160G	probably damaging	Het
Csn1s1	T	C	5: 87,825,501 (GRCm39)		probably null	Het
Ddx60	C	A	8: 62,395,470 (GRCm39)		probably null	Het
Depdc1a	T	A	3: 159,221,147 (GRCm39)	N159K	probably benign	Het
Dsg3	A	T	18: 20,662,004 (GRCm39)		probably benign	Het
Eif4g3	A	C	4: 137,824,677 (GRCm39)		probably benign	Het
Ercc6l2	T	A	13: 64,001,437 (GRCm39)		probably null	Het
Fbxw19	T	A	9: 109,322,602 (GRCm39)	M123L	probably benign	Het
Fus	T	A	7: 127,584,794 (GRCm39)	L100H	probably damaging	Het
Gm29247	A	G	1: 44,146,269 (GRCm39)		probably benign	Het
Gucy2e	T	C	11: 69,115,857 (GRCm39)	T842A	probably damaging	Het
Inpp4a	A	T	1: 37,418,115 (GRCm39)	Q519L	probably benign	Het
Kcnip1	C	A	11: 33,593,290 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,855,975 (GRCm39)	L2432H	probably damaging	Het
Myh15	A	G	16: 48,997,317 (GRCm39)	T1712A	probably benign	Het
Nlrp1a	T	C	11: 71,013,826 (GRCm39)	T475A	possibly damaging	Het
Nr4a3	G	A	4: 48,051,649 (GRCm39)	M134I	probably benign	Het
Or2a56	T	G	6: 42,932,663 (GRCm39)	V77G	probably damaging	Het
Or52m1	T	A	7: 102,290,290 (GRCm39)	L279Q	probably damaging	Het
Or5p60	T	A	7: 107,723,595 (GRCm39)	I292F	probably damaging	Het
Paqr6	T	G	3: 88,273,085 (GRCm39)	I52S	probably damaging	Het
Pcdhb4	T	A	18: 37,442,721 (GRCm39)	L677Q	probably benign	Het
Phax	C	T	18: 56,717,372 (GRCm39)	R250*	probably null	Het
Pkn3	A	G	2: 29,973,158 (GRCm39)	D356G	probably benign	Het
Pnpla2	T	C	7: 141,035,285 (GRCm39)	L29P	probably damaging	Het
Rad18	G	A	6: 112,664,948 (GRCm39)	T62I	probably damaging	Het
Riok3	C	T	18: 12,276,017 (GRCm39)	R238C	probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Sccpdh	G	T	1: 179,504,025 (GRCm39)	G125W	probably damaging	Het
Skint11	T	A	4: 114,051,925 (GRCm39)	L91H	probably damaging	Het
Slc25a45	A	G	19: 5,928,725 (GRCm39)		probably benign	Het
Slco2a1	C	T	9: 102,954,128 (GRCm39)	Q370*	probably null	Het
Szt2	A	G	4: 118,250,087 (GRCm39)	S474P	probably damaging	Het
Tchh	C	A	3: 93,350,719 (GRCm39)	T53K	probably damaging	Het
Tiam1	T	C	16: 89,595,588 (GRCm39)	T1298A	possibly damaging	Het
Tmem161a	C	T	8: 70,633,887 (GRCm39)	Q183*	probably null	Het
Trim26	C	A	17: 37,161,797 (GRCm39)	A72E	probably damaging	Het
Trmt11	A	T	10: 30,435,169 (GRCm39)	I330K	probably benign	Het
Tspan1	A	G	4: 116,021,052 (GRCm39)		probably benign	Het
Ubr4	C	A	4: 139,194,561 (GRCm39)	C4286*	probably null	Het
Unc13a	T	C	8: 72,105,158 (GRCm39)		probably null	Het
Vmn1r20	T	A	6: 57,409,583 (GRCm39)	F303Y	probably damaging	Het
Washc2	T	C	6: 116,190,979 (GRCm39)		probably benign	Het
Xab2	C	T	8: 3,661,699 (GRCm39)	D585N	probably benign	Het
Ythdc2	C	T	18: 44,993,001 (GRCm39)	L791F	probably damaging	Het
Zfp319	C	A	8: 96,055,589 (GRCm39)	V205F	probably damaging	Het
Zscan25	A	T	5: 145,227,512 (GRCm39)	H392L	probably damaging	Het
Zswim6	A	T	13: 107,884,786 (GRCm39)		noncoding transcript	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
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
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

Posted On

2015-04-16