Mutagenetix > Incidental Mutation

Incidental Mutation 'R7233:Mastl'

562603

Institutional Source

Beutler Lab

Gene Symbol

Mastl

Ensembl Gene

ENSMUSG00000026779

Gene Name

microtubule associated serine/threonine kinase-like

Synonyms

2700091H24Rik, THC2

MMRRC Submission

045343-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7233 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23115606-23156024 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23133658 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 351 (I351T)

Ref Sequence

ENSEMBL: ENSMUSP00000028119 (fasta)

Gene Model

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

AlphaFold

Q8C0P0

Predicted Effect

probably benign
Transcript: ENSMUST00000028119
AA Change: I351T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028119
Gene: ENSMUSG00000026779
AA Change: I351T

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

0.0723

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	A	2: 130,806,788 (GRCm38)	R258L	unknown	Het
8030462N17Rik	C	A	18: 77,635,186 (GRCm38)	V385F	probably damaging	Het
Acox3	A	G	5: 35,605,297 (GRCm38)	K505R	probably benign	Het
Arhgap24	A	G	5: 102,878,501 (GRCm38)	K263E	probably benign	Het
Armc2	A	T	10: 41,923,804 (GRCm38)	V686D	probably damaging	Het
Bhmt	T	A	13: 93,621,517 (GRCm38)	K229*	probably null	Het
Birc2	A	T	9: 7,827,008 (GRCm38)	C326S	probably damaging	Het
Blzf1	A	T	1: 164,295,943 (GRCm38)		probably null	Het
Camsap3	T	A	8: 3,600,371 (GRCm38)	F223Y	probably damaging	Het
Ccdc126	C	T	6: 49,339,841 (GRCm38)	T85M	probably damaging	Het
Ccng2	C	G	5: 93,273,343 (GRCm38)	S237R	probably benign	Het
Ces2h	T	A	8: 105,017,456 (GRCm38)	C279S	probably damaging	Het
Cfap44	T	A	16: 44,422,408 (GRCm38)	L725Q	probably damaging	Het
Clip1	T	C	5: 123,611,859 (GRCm38)	E987G	probably damaging	Het
Cog1	G	T	11: 113,649,730 (GRCm38)	R57L	probably damaging	Het
Ctdspl	T	C	9: 119,020,046 (GRCm38)		probably null	Het
Dnttip2	T	C	3: 122,276,390 (GRCm38)	V418A	probably benign	Het
Dopey1	G	A	9: 86,521,696 (GRCm38)	A186T	probably benign	Het
Engase	T	A	11: 118,483,001 (GRCm38)	V323E	probably damaging	Het
Fam92b	A	G	8: 120,171,922 (GRCm38)	L131P	probably damaging	Het
Farsb	A	G	1: 78,471,081 (GRCm38)		probably null	Het
Fpr2	G	T	17: 17,893,504 (GRCm38)	W254L	probably damaging	Het
Frmd3	A	C	4: 74,013,786 (GRCm38)	H6P	probably benign	Het
Fscn1	C	T	5: 142,970,274 (GRCm38)	S366L	possibly damaging	Het
Galt	T	A	4: 41,758,267 (GRCm38)	I344N	probably benign	Het
Gfra4	A	T	2: 131,041,117 (GRCm38)	V194E	probably damaging	Het
Gm11639	T	C	11: 104,839,843 (GRCm38)	S1966P	possibly damaging	Het
Gm11756	G	T	4: 73,917,571 (GRCm38)	L219M	probably benign	Het
Gm3139	A	T	5: 94,537,665 (GRCm38)	M395L	probably benign	Het
Golgb1	T	C	16: 36,914,758 (GRCm38)	S1497P	possibly damaging	Het
Igfn1	A	C	1: 135,970,135 (GRCm38)	S898A	probably benign	Het
Igkv1-135	T	C	6: 67,610,348 (GRCm38)	S68P	probably benign	Het
Lama2	A	T	10: 27,231,663 (GRCm38)	C784S	probably damaging	Het
Lars2	G	T	9: 123,411,954 (GRCm38)	G229*	probably null	Het
Lats2	A	T	14: 57,722,694 (GRCm38)		probably null	Het
Lgr6	A	C	1: 135,000,476 (GRCm38)		probably null	Het
Lrp1	A	T	10: 127,595,061 (GRCm38)	I373N	probably damaging	Het
Maml2	A	T	9: 13,620,771 (GRCm38)	H427L		Het
Mansc1	A	G	6: 134,621,843 (GRCm38)	V37A	probably damaging	Het
Map4k3	A	G	17: 80,597,648 (GRCm38)	V738A	possibly damaging	Het
Mcmdc2	T	G	1: 9,932,183 (GRCm38)		probably null	Het
Mrgprd	A	G	7: 145,321,935 (GRCm38)	D181G	possibly damaging	Het
Msra	T	C	14: 64,123,265 (GRCm38)	Y209C	probably damaging	Het
Musk	A	G	4: 58,373,307 (GRCm38)	E759G	possibly damaging	Het
Nab1	T	C	1: 52,459,219 (GRCm38)	*487W	probably null	Het
Olfr373	A	G	8: 72,100,056 (GRCm38)	T99A	probably benign	Het
Olfr490	T	A	7: 108,286,716 (GRCm38)	T137S	probably benign	Het
Pkdrej	A	G	15: 85,821,148 (GRCm38)	S196P	probably damaging	Het
Pln	A	G	10: 53,343,912 (GRCm38)	T17A	probably damaging	Het
Polrmt	A	T	10: 79,745,785 (GRCm38)		probably null	Het
Ppp1r14a	T	A	7: 29,289,524 (GRCm38)	Y64N	probably damaging	Het
Ppp1r9a	A	T	6: 5,134,804 (GRCm38)	H959L	probably benign	Het
Prmt7	A	G	8: 106,220,010 (GRCm38)	T75A	probably damaging	Het
Prom1	T	C	5: 44,037,474 (GRCm38)	S319G	possibly damaging	Het
Prtg	G	A	9: 72,911,991 (GRCm38)	G1089S	probably benign	Het
Ptprd	T	C	4: 76,059,783 (GRCm38)	D596G	probably benign	Het
Rbm12	C	T	2: 156,095,974 (GRCm38)	G793S	unknown	Het
Rora	A	T	9: 69,197,522 (GRCm38)	R43*	probably null	Het
Sez6	T	C	11: 77,973,137 (GRCm38)	Y482H	probably damaging	Het
Skint2	A	T	4: 112,625,925 (GRCm38)	N176Y	probably damaging	Het
Slc44a2	G	T	9: 21,348,149 (GRCm38)		probably null	Het
Sox6	A	G	7: 115,489,809 (GRCm38)	V606A	possibly damaging	Het
Spa17	T	C	9: 37,603,291 (GRCm38)		probably null	Het
Syne1	A	C	10: 5,302,160 (GRCm38)	L2498R	probably damaging	Het
Synpo2	T	G	3: 123,117,684 (GRCm38)	H104P	probably benign	Het
Tapbp	G	T	17: 33,919,969 (GRCm38)	A46S	probably damaging	Het
Tbc1d30	C	A	10: 121,272,057 (GRCm38)	R480L	probably benign	Het
Tshz1	T	C	18: 84,014,819 (GRCm38)	D488G	possibly damaging	Het
Ulk1	A	G	5: 110,809,042 (GRCm38)	L70P	probably damaging	Het
Zcchc17	T	A	4: 130,327,323 (GRCm38)	D145V	probably damaging	Het
Zfp318	T	A	17: 46,406,052 (GRCm38)	L1037M	probably damaging	Het
Zfp324	C	T	7: 12,970,597 (GRCm38)	Q238*	probably null	Het
Zfp874a	A	G	13: 67,442,657 (GRCm38)	Y303H	possibly damaging	Het
Zfp975	T	C	7: 42,662,494 (GRCm38)	K232E	probably benign	Het
Zfp982	T	A	4: 147,513,261 (GRCm38)	N358K	probably benign	Het
Zmiz1	C	T	14: 25,649,668 (GRCm38)	P417S	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
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

Predicted Primers

PCR Primer
(F):5'- GGTGTTCTTCAGATGTAGCACTAG -3'
(R):5'- ACTACTTCACTGGGTTACTTATCAC -3'

Sequencing Primer
(F):5'- TACAGACCTCTGACTGGACTG -3'
(R):5'- CACTGGGTTACTTATCACATGTAGGC -3'

Posted On

2019-06-26