Mutagenetix > Incidental Mutation

Incidental Mutation 'R7371:Mastl'

572053

Institutional Source

Beutler Lab

Gene Symbol

Mastl

Ensembl Gene

ENSMUSG00000026779

Gene Name

microtubule associated serine/threonine kinase-like

Synonyms

2700091H24Rik, THC2

MMRRC Submission

045454-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7371 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23115606-23156024 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23140573 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 195 (S195T)

Ref Sequence

ENSEMBL: ENSMUSP00000028119 (fasta)

Gene Model

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

AlphaFold

Q8C0P0

Predicted Effect

probably damaging
Transcript: ENSMUST00000028119
AA Change: S195T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028119
Gene: ENSMUSG00000026779
AA Change: S195T

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: 99.8%
20x: 99.3%

Validation Efficiency

98% (88/90)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	A	T	2: 111,193,481 (GRCm38)	S475T	unknown	Het
Adam21	A	C	12: 81,560,290 (GRCm38)	S233A	probably damaging	Het
Adcy8	T	A	15: 64,699,218 (GRCm38)	H1222L	probably benign	Het
Aftph	T	C	11: 20,726,836 (GRCm38)	T258A	probably benign	Het
Ano3	A	C	2: 110,884,849 (GRCm38)		probably null	Het
Aox4	A	G	1: 58,263,854 (GRCm38)	D1148G	probably damaging	Het
Bcl11b	A	T	12: 107,989,491 (GRCm38)	I133N	probably damaging	Het
Borcs7	T	A	19: 46,699,618 (GRCm38)	D67E	probably damaging	Het
Cacna2d4	T	A	6: 119,308,709 (GRCm38)	I774N	probably benign	Het
Catsperd	A	T	17: 56,650,801 (GRCm38)	Y236F	probably benign	Het
Cblc	T	C	7: 19,792,903 (GRCm38)	S135G	probably benign	Het
Ccdc168	C	A	1: 44,061,377 (GRCm38)	R187L	probably benign	Het
Ccdc178	A	G	18: 22,130,138 (GRCm38)	V138A	probably benign	Het
Cd300ld	C	T	11: 114,987,360 (GRCm38)	G109R	probably damaging	Het
Cdh3	T	A	8: 106,552,477 (GRCm38)	N690K	probably damaging	Het
Ceacam1	T	A	7: 25,474,720 (GRCm38)	Y170F	possibly damaging	Het
Ceacam9	A	C	7: 16,723,727 (GRCm38)	H55P	possibly damaging	Het
Celsr1	C	T	15: 86,030,674 (GRCm38)	V1033I	possibly damaging	Het
Cep97	T	C	16: 55,905,320 (GRCm38)	S807G	probably benign	Het
Ces1b	A	G	8: 93,057,354 (GRCm38)		probably null	Het
Chn1	T	C	2: 73,679,890 (GRCm38)	T92A	probably damaging	Het
Cimap1b	C	A	15: 89,379,162 (GRCm38)	W6L	probably damaging	Het
Cngb3	A	C	4: 19,425,575 (GRCm38)	Y461S	possibly damaging	Het
Col24a1	A	G	3: 145,343,698 (GRCm38)	N629S	probably benign	Het
Cpd	T	C	11: 76,846,611 (GRCm38)	D119G	probably benign	Het
Cpsf1	T	C	15: 76,600,575 (GRCm38)	D594G	probably damaging	Het
Cpsf7	C	T	19: 10,531,839 (GRCm38)	A38V	probably benign	Het
Cry1	A	T	10: 85,147,919 (GRCm38)	H224Q	probably benign	Het
Ctr9	T	A	7: 111,033,807 (GRCm38)	D87E	probably damaging	Het
Cyp2u1	T	A	3: 131,293,495 (GRCm38)	N479I	probably benign	Het
Dip2c	A	G	13: 9,592,749 (GRCm38)	N672D	probably benign	Het
Dnah14	T	C	1: 181,626,885 (GRCm38)	V820A	probably benign	Het
Efnb2	T	C	8: 8,660,524 (GRCm38)	I31V	probably benign	Het
Fgb	T	C	3: 83,046,052 (GRCm38)	Y137C	probably damaging	Het
Fkbp15	A	G	4: 62,321,056 (GRCm38)	V604A	possibly damaging	Het
Flii	A	T	11: 60,718,264 (GRCm38)	N682K	probably benign	Het
Fmo3	A	G	1: 162,954,227 (GRCm38)	L519P	possibly damaging	Het
Gapvd1	T	A	2: 34,717,373 (GRCm38)	M538L	probably benign	Het
Gbp11	A	G	5: 105,342,105 (GRCm38)	V69A	probably benign	Het
Ggn	T	A	7: 29,172,180 (GRCm38)	D364E	probably benign	Het
Gm10377	G	A	14: 42,792,896 (GRCm38)	P171S	probably benign	Het
Gramd4	C	T	15: 86,135,406 (GRCm38)	A625V	probably benign	Het
Il2ra	T	A	2: 11,643,020 (GRCm38)	M7K	probably benign	Het
Iqgap2	A	T	13: 95,700,338 (GRCm38)		probably null	Het
Itgb4	T	C	11: 115,998,080 (GRCm38)	V1083A	probably benign	Het
Kcnma1	G	A	14: 23,494,570 (GRCm38)	A573V	possibly damaging	Het
Kirrel1	T	C	3: 87,088,422 (GRCm38)	T402A	probably benign	Het
Krt15	A	T	11: 100,135,560 (GRCm38)	V100E	possibly damaging	Het
Krt4	T	A	15: 101,920,388 (GRCm38)	Q347L	probably damaging	Het
Map3k21	T	A	8: 125,935,065 (GRCm38)	I467N	probably damaging	Het
Mis18bp1	G	T	12: 65,158,594 (GRCm38)	T268K	probably benign	Het
Mmp17	G	A	5: 129,605,772 (GRCm38)	G492S	probably null	Het
Myc	T	A	15: 61,988,182 (GRCm38)	S236T	probably damaging	Het
Nlrp5	A	T	7: 23,418,423 (GRCm38)	E524V	probably damaging	Het
Nopchap1	T	C	10: 83,365,816 (GRCm38)	V151A	probably benign	Het
Npr3	T	A	15: 11,845,290 (GRCm38)		probably null	Het
Oog4	T	C	4: 143,438,776 (GRCm38)	N267S	possibly damaging	Het
Or2a12	T	A	6: 42,927,535 (GRCm38)	Y101*	probably null	Het
Or4l15	A	T	14: 49,961,106 (GRCm38)		probably null	Het
Or56a5	A	G	7: 105,143,879 (GRCm38)	I138T	possibly damaging	Het
Pde4dip	T	C	3: 97,757,271 (GRCm38)	E425G	probably benign	Het
Piwil4	A	C	9: 14,727,433 (GRCm38)	N312K	probably benign	Het
Pmepa1	A	G	2: 173,234,419 (GRCm38)	M47T	possibly damaging	Het
Prkcg	G	A	7: 3,319,553 (GRCm38)	G372D	probably benign	Het
Prune2	A	G	19: 17,119,370 (GRCm38)	H746R	probably benign	Het
Ptma	GGAAGAAG	GGAAGAAGAAG	1: 86,529,539 (GRCm38)		probably benign	Het
Rab3gap2	C	G	1: 185,251,068 (GRCm38)	A468G	probably damaging	Het
Ralb	A	G	1: 119,472,399 (GRCm38)	L123P		Het
Ralgapa2	G	A	2: 146,347,126 (GRCm38)	T1288I	probably benign	Het
Samd4b	C	A	7: 28,423,501 (GRCm38)	C44F	probably benign	Het
Satb1	C	A	17: 51,782,980 (GRCm38)	E280*	probably null	Het
Sec1	T	C	7: 45,678,610 (GRCm38)	T338A	probably damaging	Het
Sec16a	T	C	2: 26,441,722 (GRCm38)	T94A	probably benign	Het
Serpina1f	G	A	12: 103,689,827 (GRCm38)	R381W	probably damaging	Het
Sfswap	A	T	5: 129,543,241 (GRCm38)	T525S	probably benign	Het
Skor1	T	C	9: 63,146,887 (GRCm38)		probably null	Het
Spc24	A	G	9: 21,757,368 (GRCm38)	L111P	probably damaging	Het
St8sia2	T	C	7: 73,966,927 (GRCm38)	D121G	probably damaging	Het
Tanc2	A	G	11: 105,798,596 (GRCm38)	T195A	probably benign	Het
Tbc1d9	T	A	8: 83,271,261 (GRCm38)	I1149N	probably damaging	Het
Tph2	A	T	10: 115,151,111 (GRCm38)	L258Q	probably damaging	Het
Trpm3	A	T	19: 22,902,193 (GRCm38)	M781L	probably benign	Het
Ubap2	G	T	4: 41,195,779 (GRCm38)	P1005T	probably benign	Het
Upf2	A	G	2: 5,961,040 (GRCm38)	E157G	unknown	Het
Urb2	C	A	8: 124,028,269 (GRCm38)	D238E	probably benign	Het
Vipr1	T	C	9: 121,668,555 (GRCm38)	S380P	probably damaging	Het
Zc3h18	T	A	8: 122,413,021 (GRCm38)	S734T	unknown	Het
Zmym6	T	A	4: 127,104,313 (GRCm38)	Y381N	probably damaging	Het
Zscan4e	T	C	7: 11,307,324 (GRCm38)	K207R	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCAGATAGATGTTCTACCACCTG -3'
(R):5'- TATGTATCCTATACCAGCCAGTTC -3'

Sequencing Primer
(F):5'- AGGTAATCCCATCTCAGGCTCG -3'
(R):5'- ATACCAGCCAGTTCTGTGGGTAC -3'

Posted On

2019-09-13