Mutagenetix > Incidental Mutation

Incidental Mutation 'R0551:Mark3'

45189

Institutional Source

Beutler Lab

Gene Symbol

Mark3

Ensembl Gene

ENSMUSG00000007411

Gene Name

MAP/microtubule affinity regulating kinase 3

Synonyms

1600015G02Rik, C-TAK1, ETK-1, A430080F22Rik

MMRRC Submission

038743-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R0551 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111540957-111622655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111600068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 428 (S428T)

Ref Sequence

ENSEMBL: ENSMUSP00000152727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075281] [ENSMUST00000084953] [ENSMUST00000221459] [ENSMUST00000221753]

AlphaFold

Q03141

Predicted Effect

probably benign
Transcript: ENSMUST00000075281
AA Change: S428T

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

SMART Domains

Protein: ENSMUSP00000074757
Gene: ENSMUSG00000007411
AA Change: S428T

Domain	Start	End	E-Value	Type
S_TKc	56	307	7.4e-109	SMART
UBA	328	365	6.91e-9	SMART
low complexity region	368	385	N/A	INTRINSIC
low complexity region	406	419	N/A	INTRINSIC
Pfam:KA1	683	729	3.7e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000084953
AA Change: S428T

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

SMART Domains

Protein: ENSMUSP00000082017
Gene: ENSMUSG00000007411
AA Change: S428T

Domain	Start	End	E-Value	Type
S_TKc	56	307	7.4e-109	SMART
UBA	328	365	6.91e-9	SMART
low complexity region	368	385	N/A	INTRINSIC
low complexity region	406	419	N/A	INTRINSIC
Pfam:KA1	700	744	4e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220971

Predicted Effect

probably benign
Transcript: ENSMUST00000221459
AA Change: S428T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000221753
AA Change: S428T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222080

Meta Mutation Damage Score

0.0637

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is activated by phosphorylation and in turn is involved in the phosphorylation of tau proteins MAP2 and MAP4. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous disruption of this gene results in decreased body weight, increased energy expenditure, reduced adiposity, and protection from high-fat diet induced obesity. On a high-fat diet, mice show resistance to hepatic steatosis, improved glucose tolerance, and decreased insulin levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,384,598 (GRCm39)	T456S	probably benign	Het
Acmsd	A	T	1: 127,694,070 (GRCm39)	K333N	probably benign	Het
Adcy2	T	A	13: 68,944,658 (GRCm39)	K241N	probably damaging	Het
Aebp1	A	G	11: 5,817,955 (GRCm39)	I77V	probably benign	Het
Albfm1	C	T	5: 90,720,578 (GRCm39)	P250S	probably damaging	Het
Ankrd35	A	G	3: 96,591,276 (GRCm39)	T521A	probably benign	Het
Arap2	C	T	5: 62,798,666 (GRCm39)		probably null	Het
Arfgap3	A	T	15: 83,227,338 (GRCm39)	C25S	probably damaging	Het
Arhgap20	T	A	9: 51,737,125 (GRCm39)		probably benign	Het
Arhgap39	C	T	15: 76,619,086 (GRCm39)	D833N	probably damaging	Het
Auts2	T	C	5: 131,469,307 (GRCm39)	E446G	possibly damaging	Het
Brwd1	C	T	16: 95,837,174 (GRCm39)	R886H	probably damaging	Het
Carm1	G	A	9: 21,491,787 (GRCm39)		probably null	Het
Cdc5l	G	A	17: 45,726,610 (GRCm39)	R321W	probably damaging	Het
Cfap54	A	T	10: 92,860,984 (GRCm39)	M841K	probably benign	Het
Clca4b	T	A	3: 144,634,387 (GRCm39)	T69S	probably damaging	Het
Cpox	A	G	16: 58,495,753 (GRCm39)	I357V	probably benign	Het
Diaph3	C	A	14: 87,147,536 (GRCm39)	V711L	probably benign	Het
Fabp3-ps1	T	C	10: 86,567,904 (GRCm39)		probably benign	Het
Fam120b	A	T	17: 15,651,905 (GRCm39)		probably benign	Het
Fcho1	A	G	8: 72,164,818 (GRCm39)	S488P	probably benign	Het
Flcn	A	G	11: 59,686,574 (GRCm39)		probably null	Het
Flt3l	A	G	7: 44,781,690 (GRCm39)	W234R	probably damaging	Het
Fzd7	G	T	1: 59,522,443 (GRCm39)	V109L	probably damaging	Het
G3bp1	A	G	11: 55,379,969 (GRCm39)	N101S	probably benign	Het
Gadd45g	A	G	13: 52,001,963 (GRCm39)	E143G	probably damaging	Het
Ganab	T	G	19: 8,884,644 (GRCm39)	I149S	probably benign	Het
Garnl3	A	G	2: 32,906,750 (GRCm39)	S413P	probably damaging	Het
Glis1	C	T	4: 107,425,316 (GRCm39)		probably null	Het
Gm11563	A	G	11: 99,549,539 (GRCm39)	S72P	unknown	Het
Gpd1	T	G	15: 99,618,510 (GRCm39)	I188S	possibly damaging	Het
Gria2	A	G	3: 80,639,333 (GRCm39)		probably benign	Het
Hpcal4	G	T	4: 123,082,848 (GRCm39)	A65S	possibly damaging	Het
Igsf10	G	A	3: 59,236,089 (GRCm39)	T1364I	probably benign	Het
Kdm4a	T	C	4: 117,995,428 (GRCm39)	*1065W	probably null	Het
Klkb1	A	G	8: 45,731,003 (GRCm39)		probably null	Het
Lipo3	T	C	19: 33,557,951 (GRCm39)	D147G	probably damaging	Het
Lrp1	A	G	10: 127,407,827 (GRCm39)	S1821P	probably benign	Het
Macroh2a2	A	G	10: 61,576,945 (GRCm39)	S308P	probably damaging	Het
Manba	T	C	3: 135,223,734 (GRCm39)	I207T	probably damaging	Het
Mfsd4a	G	A	1: 131,969,657 (GRCm39)	T348I	probably damaging	Het
Mybbp1a	A	G	11: 72,339,202 (GRCm39)	M880V	probably benign	Het
N4bp2	T	A	5: 65,977,684 (GRCm39)		probably null	Het
Nrdc	T	G	4: 108,904,905 (GRCm39)	I712S	probably damaging	Het
Nup210	G	A	6: 90,998,466 (GRCm39)	R774C	possibly damaging	Het
Obscn	G	A	11: 58,998,688 (GRCm39)	R1395*	probably null	Het
Or5b102	T	A	19: 13,041,658 (GRCm39)	D294E	probably benign	Het
Pcdh7	T	C	5: 57,879,336 (GRCm39)	Y964H	probably damaging	Het
Pgap6	C	A	17: 26,339,576 (GRCm39)	Q605K	probably damaging	Het
Plin4	T	C	17: 56,413,756 (GRCm39)	T290A	probably benign	Het
Ppara	T	C	15: 85,671,306 (GRCm39)		probably benign	Het
Psg21	T	G	7: 18,386,565 (GRCm39)		probably null	Het
Ptar1	C	A	19: 23,697,704 (GRCm39)	N405K	probably benign	Het
Ralgps2	A	G	1: 156,660,233 (GRCm39)		probably null	Het
Rnf6	T	A	5: 146,148,205 (GRCm39)	N271I	possibly damaging	Het
Sis	T	C	3: 72,832,740 (GRCm39)	D1019G	possibly damaging	Het
Slc37a3	A	G	6: 39,329,688 (GRCm39)		probably benign	Het
Slc49a3	A	G	5: 108,592,331 (GRCm39)		probably benign	Het
Slc6a12	G	A	6: 121,333,877 (GRCm39)	V238I	probably damaging	Het
Sntg1	C	A	1: 8,624,960 (GRCm39)	V279L	possibly damaging	Het
Sorbs1	T	A	19: 40,300,260 (GRCm39)	E567D	probably damaging	Het
Sp110	C	A	1: 85,516,821 (GRCm39)		probably benign	Het
Ssu2	A	G	6: 112,357,515 (GRCm39)	V175A	possibly damaging	Het
Stk36	G	A	1: 74,655,780 (GRCm39)	E428K	probably benign	Het
Teddm1b	A	T	1: 153,751,090 (GRCm39)	I300F	possibly damaging	Het
Thy1	T	C	9: 43,958,645 (GRCm39)	V129A	probably damaging	Het
Tiam2	T	A	17: 3,479,229 (GRCm39)	M654K	probably damaging	Het
Tmem69	T	C	4: 116,410,470 (GRCm39)	S167G	probably benign	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Tspan10	A	G	11: 120,335,244 (GRCm39)	D118G	probably damaging	Het
Tspo2	A	G	17: 48,755,841 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,738,672 (GRCm39)	Q4002*	probably null	Het
Tyro3	G	A	2: 119,647,385 (GRCm39)	R834Q	probably damaging	Het
Ugt2b1	T	C	5: 87,073,943 (GRCm39)	K139E	probably benign	Het
Vmn1r9	A	T	6: 57,048,524 (GRCm39)	I200F	probably benign	Het

Other mutations in Mark3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01609:Mark3	APN	12	111,593,956 (GRCm39)	missense	probably damaging	0.99
IGL02047:Mark3	APN	12	111,584,797 (GRCm39)	missense	probably damaging	1.00
IGL02345:Mark3	APN	12	111,593,541 (GRCm39)	missense	probably damaging	0.99
IGL02637:Mark3	APN	12	111,559,090 (GRCm39)	missense	probably damaging	0.98
IGL03310:Mark3	APN	12	111,614,104 (GRCm39)	missense	probably benign
IGL03349:Mark3	APN	12	111,594,684 (GRCm39)	missense	probably benign	0.19
R0377:Mark3	UTSW	12	111,595,463 (GRCm39)	missense	probably damaging	0.96
R0846:Mark3	UTSW	12	111,593,658 (GRCm39)	missense	possibly damaging	0.85
R1104:Mark3	UTSW	12	111,584,831 (GRCm39)	splice site	probably benign
R1305:Mark3	UTSW	12	111,581,880 (GRCm39)	critical splice donor site	probably null
R1344:Mark3	UTSW	12	111,594,271 (GRCm39)	missense	possibly damaging	0.94
R1418:Mark3	UTSW	12	111,594,271 (GRCm39)	missense	possibly damaging	0.94
R1434:Mark3	UTSW	12	111,589,759 (GRCm39)	splice site	probably benign
R1556:Mark3	UTSW	12	111,594,275 (GRCm39)	missense	probably damaging	0.98
R1569:Mark3	UTSW	12	111,600,180 (GRCm39)	missense	probably benign	0.01
R1582:Mark3	UTSW	12	111,621,744 (GRCm39)	missense	probably benign	0.12
R1936:Mark3	UTSW	12	111,584,799 (GRCm39)	missense	probably damaging	0.99
R1975:Mark3	UTSW	12	111,581,875 (GRCm39)	missense	probably damaging	1.00
R2507:Mark3	UTSW	12	111,593,676 (GRCm39)	missense	probably damaging	1.00
R4394:Mark3	UTSW	12	111,570,957 (GRCm39)	missense	possibly damaging	0.91
R4912:Mark3	UTSW	12	111,559,087 (GRCm39)	missense	probably benign	0.42
R4926:Mark3	UTSW	12	111,584,758 (GRCm39)	nonsense	probably null
R5060:Mark3	UTSW	12	111,584,760 (GRCm39)	missense	probably damaging	0.98
R5133:Mark3	UTSW	12	111,621,762 (GRCm39)	missense	probably damaging	1.00
R5813:Mark3	UTSW	12	111,621,877 (GRCm39)	missense	probably damaging	1.00
R5834:Mark3	UTSW	12	111,590,921 (GRCm39)	missense	probably damaging	0.99
R5926:Mark3	UTSW	12	111,559,168 (GRCm39)	missense	probably damaging	1.00
R6523:Mark3	UTSW	12	111,593,669 (GRCm39)	missense	probably damaging	1.00
R6663:Mark3	UTSW	12	111,541,517 (GRCm39)	missense	probably benign	0.42
R6719:Mark3	UTSW	12	111,581,876 (GRCm39)	missense	probably damaging	1.00
R6942:Mark3	UTSW	12	111,559,088 (GRCm39)	missense	probably null	0.02
R6966:Mark3	UTSW	12	111,606,458 (GRCm39)	missense	probably damaging	0.96
R6978:Mark3	UTSW	12	111,593,582 (GRCm39)	missense	probably benign
R7303:Mark3	UTSW	12	111,621,970 (GRCm39)	missense	probably damaging	1.00
R7408:Mark3	UTSW	12	111,600,223 (GRCm39)	missense	probably damaging	0.99
R7454:Mark3	UTSW	12	111,570,961 (GRCm39)	missense	probably damaging	1.00
R7680:Mark3	UTSW	12	111,613,207 (GRCm39)	missense	probably benign	0.01
R8194:Mark3	UTSW	12	111,559,117 (GRCm39)	missense	probably damaging	1.00
R8243:Mark3	UTSW	12	111,613,956 (GRCm39)	missense	possibly damaging	0.73
R8385:Mark3	UTSW	12	111,621,808 (GRCm39)	missense	possibly damaging	0.68
R8788:Mark3	UTSW	12	111,613,124 (GRCm39)	missense	probably benign	0.00
R9144:Mark3	UTSW	12	111,606,376 (GRCm39)	missense	probably benign
R9562:Mark3	UTSW	12	111,570,960 (GRCm39)	missense	probably damaging	0.99
R9565:Mark3	UTSW	12	111,570,960 (GRCm39)	missense	probably damaging	0.99
R9735:Mark3	UTSW	12	111,621,882 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGACCACGGTTCTTTGGATTCTTGC -3'
(R):5'- TTGCCTGCATTCCCAAGCATGG -3'

Sequencing Primer
(F):5'- AAGTTGTTTCCAAAGACCGCTC -3'
(R):5'- ATTCCCAAGCATGGGACTG -3'

Posted On

2013-06-11