Mutagenetix > Incidental Mutation

Incidental Mutation 'R8057:Mastl'

619423

Institutional Source

Beutler Lab

Gene Symbol

Mastl

Ensembl Gene

ENSMUSG00000026779

Gene Name

microtubule associated serine/threonine kinase-like

Synonyms

2700091H24Rik, THC2

MMRRC Submission

067494-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8057 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23115606-23156024 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23133554 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 386 (R386W)

Ref Sequence

ENSEMBL: ENSMUSP00000028119 (fasta)

Gene Model

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

AlphaFold

Q8C0P0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028119
AA Change: R386W

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000028119
Gene: ENSMUSG00000026779
AA Change: R386W

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (81/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	C	1: 160,075,256 (GRCm38)	L32P	probably damaging	Het
4930563M21Rik	T	C	9: 56,009,280 (GRCm38)	T38A	unknown	Het
Abcb6	T	C	1: 75,174,358 (GRCm38)	N563D	probably damaging	Het
Ak4	T	C	4: 101,460,653 (GRCm38)	F140S	probably damaging	Het
Arhgap27	T	A	11: 103,338,693 (GRCm38)	R296S	probably damaging	Het
Atxn7l1	A	C	12: 33,326,002 (GRCm38)	K98N	probably damaging	Het
Bex6	G	T	16: 32,186,406 (GRCm38)	D11Y	probably damaging	Het
Camta1	T	C	4: 151,144,032 (GRCm38)	D781G	probably damaging	Het
Capn7	A	G	14: 31,370,979 (GRCm38)	D800G	probably benign	Het
Carmil2	G	A	8: 105,692,376 (GRCm38)	V716I	probably benign	Het
Cdk5	C	A	5: 24,420,784 (GRCm38)	D144Y	probably damaging	Het
Cep85	T	C	4: 134,153,614 (GRCm38)		probably benign	Het
Chd5	T	A	4: 152,366,372 (GRCm38)	L651Q	probably damaging	Het
Cimap1d	T	A	10: 79,640,001 (GRCm38)	H243L	probably damaging	Het
Clcn7	C	T	17: 25,149,259 (GRCm38)	Q261*	probably null	Het
Cntnap2	T	A	6: 46,347,145 (GRCm38)	F576Y	probably damaging	Het
Col11a1	G	A	3: 114,131,614 (GRCm38)	G815D	unknown	Het
Col4a4	T	A	1: 82,523,870 (GRCm38)	R387S	unknown	Het
Cse1l	T	A	2: 166,939,925 (GRCm38)	V663D	probably damaging	Het
Csf2rb2	G	T	15: 78,285,006 (GRCm38)	Q650K	probably damaging	Het
Ctnnd2	A	G	15: 30,847,351 (GRCm38)	D696G	possibly damaging	Het
Dnah7c	T	A	1: 46,688,952 (GRCm38)	C2937S	possibly damaging	Het
Epha10	A	T	4: 124,902,683 (GRCm38)	Q395L		Het
Fam167a	T	A	14: 63,452,320 (GRCm38)	V22E	probably benign	Het
Fan1	T	A	7: 64,372,486 (GRCm38)	N340Y	probably damaging	Het
Gabra4	A	G	5: 71,623,952 (GRCm38)	I372T	probably benign	Het
Gpt	A	G	15: 76,696,772 (GRCm38)		probably benign	Het
H2-K1	C	T	17: 33,996,859 (GRCm38)	G336D	possibly damaging	Het
Hapstr1	C	T	16: 8,830,368 (GRCm38)		probably benign	Het
Hoxd8	T	C	2: 74,704,726 (GRCm38)		probably null	Het
Ilrun	C	T	17: 27,767,889 (GRCm38)	A288T	unknown	Het
Kdm5d	T	G	Y: 927,355 (GRCm38)	D658E	possibly damaging	Het
Krt25	G	A	11: 99,317,343 (GRCm38)	T353M	probably benign	Het
Lonp2	T	C	8: 86,714,089 (GRCm38)	L778P	probably damaging	Het
Lrrc66	G	A	5: 73,607,532 (GRCm38)	Q723*	probably null	Het
Mak	T	A	13: 41,049,337 (GRCm38)	I212F	probably damaging	Het
Mis18bp1	A	G	12: 65,148,899 (GRCm38)	I697T	possibly damaging	Het
Nek5	G	A	8: 22,088,906 (GRCm38)	T415I	probably benign	Het
Neu3	T	A	7: 99,814,228 (GRCm38)	N96I	probably benign	Het
Nxph2	T	C	2: 23,400,095 (GRCm38)	V153A	possibly damaging	Het
Or10a3	A	T	7: 108,881,364 (GRCm38)	F81I	probably damaging	Het
Or5b102	G	A	19: 13,063,274 (GRCm38)		probably benign	Het
Or8b4	A	G	9: 37,919,164 (GRCm38)	D169G	probably benign	Het
Otogl	T	C	10: 107,808,615 (GRCm38)	T1257A	probably benign	Het
Pcdh10	G	A	3: 45,379,259 (GRCm38)	V3M	probably benign	Het
Pitpnm1	G	A	19: 4,112,145 (GRCm38)	R1017Q	probably null	Het
Plcb3	A	C	19: 6,955,095 (GRCm38)	H1065Q	probably benign	Het
Plcb3	A	T	19: 6,958,899 (GRCm38)	M752K	probably damaging	Het
Plch1	T	C	3: 63,698,136 (GRCm38)	E1449G	probably benign	Het
Plekha4	T	A	7: 45,549,271 (GRCm38)	C573S	probably benign	Het
Plin2	T	C	4: 86,657,401 (GRCm38)	I304V	possibly damaging	Het
Pnp2	G	A	14: 50,964,381 (GRCm38)	V275I	probably benign	Het
Polr1a	G	A	6: 71,931,660 (GRCm38)	A490T	possibly damaging	Het
Ppp1r12b	A	G	1: 134,955,616 (GRCm38)	F56S	probably damaging	Het
Ptk2	GA	G	15: 73,298,199 (GRCm38)		probably null	Het
Rb1cc1	C	A	1: 6,245,219 (GRCm38)	R473S	probably damaging	Het
Rcc2	G	A	4: 140,702,275 (GRCm38)	C40Y	probably benign	Het
Rdx	T	C	9: 52,065,646 (GRCm38)	V65A	probably damaging	Het
Rpl27rt	T	C	18: 34,737,529 (GRCm38)	F39L	probably damaging	Het
Rps6ka5	A	G	12: 100,573,796 (GRCm38)		probably null	Het
Samd5	C	T	10: 9,674,897 (GRCm38)	V23M	probably damaging	Het
Scn9a	T	G	2: 66,515,430 (GRCm38)	R1117S	probably benign	Het
Scrn1	T	A	6: 54,520,773 (GRCm38)	I278L	probably benign	Het
Sec31b	G	T	19: 44,519,365 (GRCm38)	P747T	probably damaging	Het
Sipa1l2	A	T	8: 125,468,530 (GRCm38)	V823E	probably damaging	Het
Slc2a13	T	C	15: 91,516,416 (GRCm38)	N201S	probably damaging	Het
Slc30a3	C	A	5: 31,090,051 (GRCm38)		probably benign	Het
Snx31	C	A	15: 36,523,460 (GRCm38)	V359F	probably damaging	Het
Sstr2	A	G	11: 113,624,273 (GRCm38)	E6G	probably benign	Het
Stc2	C	A	11: 31,367,806 (GRCm38)	E72*	probably null	Het
Tead1	C	T	7: 112,759,514 (GRCm38)	P11L	probably benign	Het
Tmem51	T	C	4: 142,031,748 (GRCm38)	T230A	probably damaging	Het
Tmem63c	A	T	12: 87,072,198 (GRCm38)	K301*	probably null	Het
Tns3	G	C	11: 8,492,773 (GRCm38)	A530G	probably benign	Het
Trat1	T	C	16: 48,742,237 (GRCm38)	D70G	probably damaging	Het
Trex1	T	A	9: 109,058,329 (GRCm38)	E198V	probably damaging	Het
Ttn	T	G	2: 76,739,728 (GRCm38)	R26940S	probably damaging	Het
Uba2	T	C	7: 34,168,410 (GRCm38)	K34R	possibly damaging	Het
Vps13d	A	C	4: 144,975,183 (GRCm38)	M4376R		Het
Zfp157	C	A	5: 138,456,074 (GRCm38)	T178K	probably damaging	Het
Zfp318	T	A	17: 46,399,766 (GRCm38)	V805D	possibly damaging	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
IGL03024:Mastl	APN	2	23,139,919 (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
R8288:Mastl	UTSW	2	23,133,359 (GRCm38)	missense	probably damaging	1.00
R9101:Mastl	UTSW	2	23,118,437 (GRCm38)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- CTTTGATTTGCACGGCAGCC -3'
(R):5'- ATCAGGCTGTGCAATGAGC -3'

Sequencing Primer
(F):5'- ATTGGCCTCATACTCTGTACAG -3'
(R):5'- CTGTGCAATGAGCTGGAATGC -3'

Posted On

2020-01-23