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

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

MMRRC Submission

038743-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

R0551 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111574523-111656221 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111633634 bp (GRCm38)

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: 32,662,641	T456S	probably benign	Het
5830473C10Rik	C	T	5: 90,572,719	P250S	probably damaging	Het
Acmsd	A	T	1: 127,766,333	K333N	probably benign	Het
Adcy2	T	A	13: 68,796,539	K241N	probably damaging	Het
Aebp1	A	G	11: 5,867,955	I77V	probably benign	Het
Ankrd35	A	G	3: 96,683,960	T521A	probably benign	Het
Arap2	C	T	5: 62,641,323		probably null	Het
Arfgap3	A	T	15: 83,343,137	C25S	probably damaging	Het
Arhgap20	T	A	9: 51,825,825		probably benign	Het
Arhgap39	C	T	15: 76,734,886	D833N	probably damaging	Het
Auts2	T	C	5: 131,440,469	E446G	possibly damaging	Het
Brwd1	C	T	16: 96,035,974	R886H	probably damaging	Het
Carm1	G	A	9: 21,580,491		probably null	Het
Cdc5l	G	A	17: 45,415,684	R321W	probably damaging	Het
Cfap54	A	T	10: 93,025,122	M841K	probably benign	Het
Clca4b	T	A	3: 144,928,626	T69S	probably damaging	Het
Cpox	A	G	16: 58,675,390	I357V	probably benign	Het
Diaph3	C	A	14: 86,910,100	V711L	probably benign	Het
Fabp3-ps1	T	C	10: 86,732,040		probably benign	Het
Fam120b	A	T	17: 15,431,643		probably benign	Het
Fcho1	A	G	8: 71,712,174	S488P	probably benign	Het
Flcn	A	G	11: 59,795,748		probably null	Het
Flt3l	A	G	7: 45,132,266	W234R	probably damaging	Het
Fzd7	G	T	1: 59,483,284	V109L	probably damaging	Het
G3bp1	A	G	11: 55,489,143	N101S	probably benign	Het
Gadd45g	A	G	13: 51,847,927	E143G	probably damaging	Het
Ganab	T	G	19: 8,907,280	I149S	probably benign	Het
Garnl3	A	G	2: 33,016,738	S413P	probably damaging	Het
Glis1	C	T	4: 107,568,119		probably null	Het
Gm11563	A	G	11: 99,658,713	S72P	unknown	Het
Gpd1	T	G	15: 99,720,629	I188S	possibly damaging	Het
Gria2	A	G	3: 80,732,026		probably benign	Het
H2afy2	A	G	10: 61,741,166	S308P	probably damaging	Het
Hpcal4	G	T	4: 123,189,055	A65S	possibly damaging	Het
Igsf10	G	A	3: 59,328,668	T1364I	probably benign	Het
Kdm4a	T	C	4: 118,138,231	*1065W	probably null	Het
Klkb1	A	G	8: 45,277,966		probably null	Het
Lipo3	T	C	19: 33,580,551	D147G	probably damaging	Het
Lrp1	A	G	10: 127,571,958	S1821P	probably benign	Het
Manba	T	C	3: 135,517,973	I207T	probably damaging	Het
Mfsd4a	G	A	1: 132,041,919	T348I	probably damaging	Het
Mfsd7a	A	G	5: 108,444,465		probably benign	Het
Mybbp1a	A	G	11: 72,448,376	M880V	probably benign	Het
N4bp2	T	A	5: 65,820,341		probably null	Het
Nrd1	T	G	4: 109,047,708	I712S	probably damaging	Het
Nup210	G	A	6: 91,021,484	R774C	possibly damaging	Het
Obscn	G	A	11: 59,107,862	R1395*	probably null	Het
Olfr1454	T	A	19: 13,064,294	D294E	probably benign	Het
Pcdh7	T	C	5: 57,721,994	Y964H	probably damaging	Het
Plin4	T	C	17: 56,106,756	T290A	probably benign	Het
Ppara	T	C	15: 85,787,105		probably benign	Het
Psg21	T	G	7: 18,652,640		probably null	Het
Ptar1	C	A	19: 23,720,340	N405K	probably benign	Het
Ralgps2	A	G	1: 156,832,663		probably null	Het
Rnf6	T	A	5: 146,211,395	N271I	possibly damaging	Het
Sis	T	C	3: 72,925,407	D1019G	possibly damaging	Het
Slc37a3	A	G	6: 39,352,754		probably benign	Het
Slc6a12	G	A	6: 121,356,918	V238I	probably damaging	Het
Sntg1	C	A	1: 8,554,736	V279L	possibly damaging	Het
Sorbs1	T	A	19: 40,311,816	E567D	probably damaging	Het
Sp110	C	A	1: 85,589,100		probably benign	Het
Ssu2	A	G	6: 112,380,554	V175A	possibly damaging	Het
Stk36	G	A	1: 74,616,621	E428K	probably benign	Het
Teddm1b	A	T	1: 153,875,344	I300F	possibly damaging	Het
Thy1	T	C	9: 44,047,348	V129A	probably damaging	Het
Tiam2	T	A	17: 3,428,954	M654K	probably damaging	Het
Tmem69	T	C	4: 116,553,273	S167G	probably benign	Het
Tmem8	C	A	17: 26,120,602	Q605K	probably damaging	Het
Tmem81	C	G	1: 132,507,829	I124M	probably damaging	Het
Tspan10	A	G	11: 120,444,418	D118G	probably damaging	Het
Tspo2	A	G	17: 48,448,813		probably benign	Het
Ttn	G	A	2: 76,908,328	Q4002*	probably null	Het
Tyro3	G	A	2: 119,816,904	R834Q	probably damaging	Het
Ugt2b1	T	C	5: 86,926,084	K139E	probably benign	Het
Vmn1r9	A	T	6: 57,071,539	I200F	probably benign	Het

Other mutations in Mark3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01609:Mark3	APN	12	111627522	missense	probably damaging	0.99
IGL02047:Mark3	APN	12	111618363	missense	probably damaging	1.00
IGL02345:Mark3	APN	12	111627107	missense	probably damaging	0.99
IGL02637:Mark3	APN	12	111592656	missense	probably damaging	0.98
IGL03310:Mark3	APN	12	111647670	missense	probably benign
IGL03349:Mark3	APN	12	111628250	missense	probably benign	0.19
R0377:Mark3	UTSW	12	111629029	missense	probably damaging	0.96
R0846:Mark3	UTSW	12	111627224	missense	possibly damaging	0.85
R1104:Mark3	UTSW	12	111618397	splice site	probably benign
R1305:Mark3	UTSW	12	111615446	critical splice donor site	probably null
R1344:Mark3	UTSW	12	111627837	missense	possibly damaging	0.94
R1418:Mark3	UTSW	12	111627837	missense	possibly damaging	0.94
R1434:Mark3	UTSW	12	111623325	splice site	probably benign
R1556:Mark3	UTSW	12	111627841	missense	probably damaging	0.98
R1569:Mark3	UTSW	12	111633746	missense	probably benign	0.01
R1582:Mark3	UTSW	12	111655310	missense	probably benign	0.12
R1936:Mark3	UTSW	12	111618365	missense	probably damaging	0.99
R1975:Mark3	UTSW	12	111615441	missense	probably damaging	1.00
R2507:Mark3	UTSW	12	111627242	missense	probably damaging	1.00
R4394:Mark3	UTSW	12	111604523	missense	possibly damaging	0.91
R4912:Mark3	UTSW	12	111592653	missense	probably benign	0.42
R4926:Mark3	UTSW	12	111618324	nonsense	probably null
R5060:Mark3	UTSW	12	111618326	missense	probably damaging	0.98
R5133:Mark3	UTSW	12	111655328	missense	probably damaging	1.00
R5813:Mark3	UTSW	12	111655443	missense	probably damaging	1.00
R5834:Mark3	UTSW	12	111624487	missense	probably damaging	0.99
R5926:Mark3	UTSW	12	111592734	missense	probably damaging	1.00
R6523:Mark3	UTSW	12	111627235	missense	probably damaging	1.00
R6663:Mark3	UTSW	12	111575083	missense	probably benign	0.42
R6719:Mark3	UTSW	12	111615442	missense	probably damaging	1.00
R6942:Mark3	UTSW	12	111592654	missense	probably null	0.02
R6966:Mark3	UTSW	12	111640024	missense	probably damaging	0.96
R6978:Mark3	UTSW	12	111627148	missense	probably benign
R7303:Mark3	UTSW	12	111655536	missense	probably damaging	1.00
R7408:Mark3	UTSW	12	111633789	missense	probably damaging	0.99
R7454:Mark3	UTSW	12	111604527	missense	probably damaging	1.00
R7680:Mark3	UTSW	12	111646773	missense	probably benign	0.01
R8194:Mark3	UTSW	12	111592683	missense	probably damaging	1.00
R8243:Mark3	UTSW	12	111647522	missense	possibly damaging	0.73
R8385:Mark3	UTSW	12	111655374	missense	possibly damaging	0.68
R8788:Mark3	UTSW	12	111646690	missense	probably benign	0.00
R9144:Mark3	UTSW	12	111639942	missense	probably benign
R9562:Mark3	UTSW	12	111604526	missense	probably damaging	0.99
R9565:Mark3	UTSW	12	111604526	missense	probably damaging	0.99
R9735:Mark3	UTSW	12	111655448	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