Mutagenetix > Incidental Mutation

Incidental Mutation 'R9101:Mastl'

691668

Institutional Source

Beutler Lab

Gene Symbol

Mastl

Ensembl Gene

ENSMUSG00000026779

Gene Name

microtubule associated serine/threonine kinase-like

Synonyms

2700091H24Rik, THC2

MMRRC Submission

068915-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9101 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23115606-23156024 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 23118437 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 866 (*866Q)

Ref Sequence

ENSEMBL: ENSMUSP00000028119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028119] [ENSMUST00000028121] [ENSMUST00000114523] [ENSMUST00000114526] [ENSMUST00000114529] [ENSMUST00000226571] [ENSMUST00000227663] [ENSMUST00000228050]

AlphaFold

Q8C0P0

Predicted Effect

probably null
Transcript: ENSMUST00000028119
AA Change: *866Q

SMART Domains

Protein: ENSMUSP00000028119
Gene: ENSMUSG00000026779
AA Change: *866Q

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

probably benign
Transcript: ENSMUST00000028121

SMART Domains

Protein: ENSMUSP00000028121
Gene: ENSMUSG00000026781

Domain	Start	End	E-Value	Type
Pfam:ACBP	8	96	3.4e-35	PFAM
low complexity region	117	130	N/A	INTRINSIC
coiled coil region	152	179	N/A	INTRINSIC
low complexity region	208	220	N/A	INTRINSIC
low complexity region	310	325	N/A	INTRINSIC
coiled coil region	392	414	N/A	INTRINSIC
transmembrane domain	442	464	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114523

SMART Domains

Protein: ENSMUSP00000110169
Gene: ENSMUSG00000026781

Domain	Start	End	E-Value	Type
Pfam:ACBP	8	96	2.4e-35	PFAM
low complexity region	117	130	N/A	INTRINSIC
coiled coil region	152	179	N/A	INTRINSIC
low complexity region	208	220	N/A	INTRINSIC
low complexity region	310	325	N/A	INTRINSIC
coiled coil region	393	415	N/A	INTRINSIC
transmembrane domain	443	465	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114526

SMART Domains

Protein: ENSMUSP00000110172
Gene: ENSMUSG00000026781

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
Pfam:ACBP	44	132	4.7e-35	PFAM
low complexity region	153	166	N/A	INTRINSIC
coiled coil region	188	215	N/A	INTRINSIC
low complexity region	244	256	N/A	INTRINSIC
low complexity region	346	361	N/A	INTRINSIC
coiled coil region	428	450	N/A	INTRINSIC
transmembrane domain	478	500	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114529

SMART Domains

Protein: ENSMUSP00000110175
Gene: ENSMUSG00000026781

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
Pfam:ACBP	45	129	4.9e-30	PFAM
low complexity region	153	166	N/A	INTRINSIC
coiled coil region	188	215	N/A	INTRINSIC
low complexity region	244	256	N/A	INTRINSIC
low complexity region	346	361	N/A	INTRINSIC
coiled coil region	429	451	N/A	INTRINSIC
transmembrane domain	479	501	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000226571

Predicted Effect

probably benign
Transcript: ENSMUST00000227663

Predicted Effect

probably benign
Transcript: ENSMUST00000228050

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (59/60)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900011O08Rik	T	A	16: 14,049,395 (GRCm38)	I39N	probably damaging	Het
AA792892	G	A	5: 94,384,040 (GRCm38)	C261Y	probably damaging	Het
Adam6b	T	C	12: 113,491,756 (GRCm38)	V731A	probably benign	Het
Adamts7	T	C	9: 90,189,741 (GRCm38)		probably null	Het
Afdn	T	C	17: 13,823,444 (GRCm38)	V388A	probably damaging	Het
Alg3	A	G	16: 20,608,849 (GRCm38)	Y113H	possibly damaging	Het
Aox2	C	T	1: 58,332,637 (GRCm38)	P820L	probably benign	Het
Avil	A	G	10: 127,017,004 (GRCm38)	D731G	probably benign	Het
Blvra	C	T	2: 127,085,970 (GRCm38)	L47F	probably damaging	Het
Ccdc85c	C	A	12: 108,274,658 (GRCm38)	R159L	unknown	Het
Clcn2	T	C	16: 20,707,229 (GRCm38)	D797G	probably benign	Het
Cmklr1	G	C	5: 113,613,982 (GRCm38)	H319Q	probably benign	Het
Dclre1a	A	T	19: 56,544,306 (GRCm38)	F619I	possibly damaging	Het
Dnajb1	C	A	8: 83,608,490 (GRCm38)	D53E	probably benign	Het
Dnmt1	T	C	9: 20,941,543 (GRCm38)	D89G	probably damaging	Het
Gck	A	G	11: 5,906,516 (GRCm38)	Y214H	probably damaging	Het
Gm597	T	A	1: 28,776,659 (GRCm38)	D764V	probably benign	Het
Gm9507	A	G	10: 77,811,816 (GRCm38)	S10P	unknown	Het
Hacd2	G	A	16: 35,099,786 (GRCm38)	V138I	probably benign	Het
Hhip	A	T	8: 80,043,962 (GRCm38)	V272D	probably damaging	Het
Hoga1	A	C	19: 42,059,908 (GRCm38)	T72P	possibly damaging	Het
Idh2	TCCCAGG	T	7: 80,098,331 (GRCm38)		probably benign	Het
Kif21b	G	A	1: 136,151,155 (GRCm38)	G414S	probably damaging	Het
Klk5	T	A	7: 43,850,781 (GRCm38)	D264E	probably benign	Het
Lars	G	A	18: 42,243,877 (GRCm38)	R205C	probably damaging	Het
Ly6a	A	T	15: 74,997,570 (GRCm38)	L12Q	probably null	Het
Marc2	T	A	1: 184,822,490 (GRCm38)	R273W	probably null	Het
Mpzl3	T	A	9: 45,070,685 (GRCm38)	M217K	possibly damaging	Het
Mroh2b	T	A	15: 4,900,453 (GRCm38)	M7K	probably benign	Het
Nefh	A	G	11: 4,940,925 (GRCm38)	S565P	probably damaging	Het
Nox4	G	A	7: 87,376,240 (GRCm38)	R525Q	probably benign	Het
Nsd1	C	T	13: 55,313,546 (GRCm38)	L2632F		Het
Olfr1022	A	G	2: 85,864,179 (GRCm38)		probably benign	Het
Olfr1143	T	C	2: 87,802,580 (GRCm38)	Y60H	probably damaging	Het
Olfr1243	A	T	2: 89,528,377 (GRCm38)	I11N	possibly damaging	Het
Olfr43	C	T	11: 74,206,496 (GRCm38)	C240Y	probably damaging	Het
Olfr550	T	C	7: 102,578,930 (GRCm38)	V145A	probably benign	Het
Olfr616	A	T	7: 103,564,473 (GRCm38)	F269I	possibly damaging	Het
Olfr959	T	A	9: 39,572,509 (GRCm38)	Y250F	probably benign	Het
Pcdhga6	T	C	18: 37,708,340 (GRCm38)	V371A	possibly damaging	Het
Pdss2	A	G	10: 43,393,949 (GRCm38)	K263E	possibly damaging	Het
Phf3	C	T	1: 30,803,945 (GRCm38)	A1978T	possibly damaging	Het
Phykpl	C	A	11: 51,592,914 (GRCm38)	T207K	probably benign	Het
Pkd2	T	A	5: 104,480,364 (GRCm38)	C435S	probably damaging	Het
Pramef6	T	A	4: 143,897,076 (GRCm38)	N176I	probably benign	Het
Prkra	T	A	2: 76,647,840 (GRCm38)	H6L	probably benign	Het
Prpf39	A	G	12: 65,043,304 (GRCm38)	K131E	probably damaging	Het
Prpf40a	A	G	2: 53,145,243 (GRCm38)	V762A	probably benign	Het
Prr27	C	T	5: 87,843,471 (GRCm38)	T314I	probably damaging	Het
Ptges3	A	G	10: 128,072,129 (GRCm38)	D116G	possibly damaging	Het
Rab11fip5	G	T	6: 85,340,693 (GRCm38)	F1071L	probably benign	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,579,907 (GRCm38)		probably benign	Het
Slc45a3	T	C	1: 131,977,437 (GRCm38)	V66A	possibly damaging	Het
Ten1	A	G	11: 116,205,736 (GRCm38)	Y72C	probably damaging	Het
Tenm3	A	G	8: 48,292,151 (GRCm38)	L1125S	probably damaging	Het
Thpo	T	A	16: 20,725,807 (GRCm38)	I159F	possibly damaging	Het
Tmppe	T	C	9: 114,405,241 (GRCm38)	S203P	probably damaging	Het
Ttc23l	A	T	15: 10,537,575 (GRCm38)	I203N	probably benign	Het
Vars2	A	G	17: 35,659,088 (GRCm38)	L803P	possibly damaging	Het
Vmn2r110	T	A	17: 20,574,209 (GRCm38)	I733F		Het
Xxylt1	T	C	16: 31,080,927 (GRCm38)	N137D	possibly damaging	Het
Zc3h13	G	A	14: 75,323,602 (GRCm38)	R544Q	unknown	Het
Zfhx4	C	T	3: 5,412,138 (GRCm38)	T3271I	probably benign	Het
Zfp943	T	A	17: 21,993,411 (GRCm38)	C493S	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
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

Predicted Primers

PCR Primer
(F):5'- CTCCCTCTATTTAGAGTGGTAGTG -3'
(R):5'- CCTGGGAGCAGAGCTTAAGTAATG -3'

Sequencing Primer
(F):5'- CTCTTCATAAAGTGCAGTGAA -3'
(R):5'- GGGAAAATCTGCAGCATC -3'

Posted On

2021-12-30