Mutagenetix > Incidental Mutations

Incidental Mutation 'R7454:Mark3'

578022

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.233) question?

Stock #

R7454 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111574523-111656221 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111604527 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 87 (I87T)

Ref Sequence

ENSEMBL: ENSMUSP00000074757 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075281] [ENSMUST00000084953] [ENSMUST00000221448] [ENSMUST00000221459] [ENSMUST00000221753] [ENSMUST00000222870]

Predicted Effect

probably damaging
Transcript: ENSMUST00000075281
AA Change: I87T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074757
Gene: ENSMUSG00000007411
AA Change: I87T

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 damaging
Transcript: ENSMUST00000084953
AA Change: I87T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000082017
Gene: ENSMUSG00000007411
AA Change: I87T

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

probably damaging
Transcript: ENSMUST00000221448
AA Change: I87T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000221459
AA Change: I87T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000221753
AA Change: I87T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

unknown
Transcript: ENSMUST00000222870
AA Change: I6T

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (90/90)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510002D24Rik	A	G	16: 18,836,851	E57G	possibly damaging	Het
4932414N04Rik	C	A	2: 68,688,304	T159K	unknown	Het
Adamts10	T	A	17: 33,545,005	F616L	possibly damaging	Het
Adtrp	G	A	13: 41,828,315	S26L	unknown	Het
Alpk3	A	C	7: 81,078,562	E480A	probably benign	Het
Anks6	T	C	4: 47,038,919	T529A	unknown	Het
Arl4d	A	G	11: 101,666,660	H4R	probably benign	Het
Ash1l	A	G	3: 88,983,865	H1017R	probably benign	Het
Bbs12	T	C	3: 37,320,953	S517P	possibly damaging	Het
Bcl11b	C	A	12: 107,916,208	R616L	possibly damaging	Het
Bean1	G	A	8: 104,211,026	G79D	probably damaging	Het
Bicra	C	G	7: 15,972,134	G1461R	probably benign	Het
Bptf	T	C	11: 107,044,640	T124A	probably benign	Het
Btnl4	A	T	17: 34,472,374	V312E	probably benign	Het
Ccdc7a	A	G	8: 128,944,516	M503T	unknown	Het
Celf5	T	C	10: 81,482,523	E28G	probably damaging	Het
Cilp2	G	A	8: 69,883,390	L350F	probably damaging	Het
Clec4a2	T	C	6: 123,142,452	I245T	probably damaging	Het
Ctnnal1	A	T	4: 56,844,544	V140D	probably damaging	Het
Dennd4a	A	C	9: 64,852,570	H319P	probably damaging	Het
Dlgap3	G	T	4: 127,235,059	L857F	probably null	Het
Dnah6	T	A	6: 73,212,492	T58S	probably damaging	Het
Dnah7a	T	A	1: 53,518,764	M2164L	probably benign	Het
Dspp	T	A	5: 104,175,610	H206Q	probably benign	Het
Dzip1l	G	A	9: 99,659,674	V443M	possibly damaging	Het
Erc2	A	G	14: 28,302,991	H939R	possibly damaging	Het
Fam149a	G	T	8: 45,348,546	H513N	probably benign	Het
Fam171a2	T	C	11: 102,439,717	T280A	possibly damaging	Het
Fam208b	A	G	13: 3,585,332	S492P	probably benign	Het
Fkbp5	A	C	17: 28,416,025	V170G	probably damaging	Het
Fnbp4	ACCACCTCCACCTCCACCTCC	ACCACCTCCACCTCCACCTCCACCTCC	2: 90,777,815		probably benign	Het
Fzd2	T	C	11: 102,605,129	F133S	probably damaging	Het
Galm	A	G	17: 80,138,121	N100S	possibly damaging	Het
Gbp2b	T	A	3: 142,598,159	I5N	possibly damaging	Het
Gga2	T	C	7: 122,002,146	R245G	probably benign	Het
Gm10053	A	G	19: 24,875,900	T50A	probably benign	Het
Gm1110	T	C	9: 26,920,649	T69A	probably benign	Het
Gm15922	T	G	7: 3,735,510	E622D	probably benign	Het
Heatr5a	T	C	12: 51,961,543	S6G	probably benign	Het
Hmcn1	A	G	1: 150,563,604	S5610P	probably damaging	Het
Hmgb4	A	G	4: 128,260,406	V123A	probably damaging	Het
Itgal	C	A	7: 127,327,764	Q943K	probably benign	Het
Jakmip1	C	A	5: 37,175,154	D1059E	probably damaging	Het
Jazf1	T	C	6: 52,893,944		probably null	Het
Kat6a	A	G	8: 22,935,772	E1111G	possibly damaging	Het
Kdm4b	C	A	17: 56,389,639	P452T	probably benign	Het
Krit1	T	C	5: 3,812,474	Y210H	probably damaging	Het
Krtap6-2	A	T	16: 89,419,912	Y56N	unknown	Het
Lig1	A	T	7: 13,288,721	D158V	probably damaging	Het
Lmo1	A	T	7: 109,140,666	L94Q	probably benign	Het
Lrrc30	A	T	17: 67,632,243	L114H	probably damaging	Het
Ltn1	T	C	16: 87,397,812	I1400V	probably benign	Het
Mfrp	G	T	9: 44,105,183	V392F	possibly damaging	Het
Mrgprg	A	G	7: 143,765,135	L80P	probably damaging	Het
Ndufaf3	A	T	9: 108,566,926	M1K	probably null	Het
Nme7	T	A	1: 164,380,648	L295*	probably null	Het
Noct	G	T	3: 51,249,730	C163F	probably damaging	Het
Olfr1270	T	A	2: 90,149,419	I196F	possibly damaging	Het
Olfr229	A	G	9: 39,909,904	I34V	probably benign	Het
Olfr541	A	T	7: 140,704,634	I128F	probably damaging	Het
Olfr747	T	A	14: 50,680,824	Q270L	possibly damaging	Het
Olfr772	T	A	10: 129,174,455	T189S	probably damaging	Het
Olfr992	T	A	2: 85,399,611	K307N	probably damaging	Het
Patz1	C	T	11: 3,298,297		probably benign	Het
Per3	A	G	4: 151,012,728	L780P	probably benign	Het
Pla2g4a	T	C	1: 149,872,690	M256V	possibly damaging	Het
Pnliprp1	A	G	19: 58,741,100	K395R	probably benign	Het
Poc5	G	T	13: 96,400,832	G242V	possibly damaging	Het
Ppfia4	A	G	1: 134,324,135	S434P	possibly damaging	Het
Prss42	A	G	9: 110,798,829	N110S	probably benign	Het
Ralgapb	T	A	2: 158,432,902	I241N	possibly damaging	Het
Rbak	A	C	5: 143,173,773	Y508*	probably null	Het
S1pr2	G	T	9: 20,967,549	R328S	possibly damaging	Het
Sap130	T	C	18: 31,650,512	M214T	probably benign	Het
Slc46a1	T	A	11: 78,466,511	V130E	probably damaging	Het
Smc4	A	T	3: 69,018,124	H343L	probably benign	Het
Tarbp1	C	A	8: 126,457,677	R500L	probably benign	Het
Tgfbr3	A	T	5: 107,215,028	H39Q	probably damaging	Het
Tpp2	T	C	1: 43,954,659	S235P	probably benign	Het
Trbc2	G	T	6: 41,546,829	R33M		Het
Trim3	C	T	7: 105,619,558	R63Q	probably damaging	Het
Ttc28	T	C	5: 111,285,484	V2128A	probably benign	Het
Ttn	C	T	2: 76,725,818	R30281H	probably damaging	Het
Ttn	T	A	2: 76,944,139	Q2187L	unknown	Het
Ttyh3	T	C	5: 140,629,425	S403G	possibly damaging	Het
Vmn2r112	A	T	17: 22,603,307	D322V	probably benign	Het
Wdr38	C	T	2: 38,998,340		probably benign	Het
Xrn1	T	A	9: 96,048,358	S1543R	probably benign	Het
Zbtb8b	G	A	4: 129,432,769	T201I	possibly damaging	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
R0551:Mark3	UTSW	12	111633634	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GGGAAGAGACTTGCTACACTG -3'
(R):5'- GGCTTCACTTGTTTCAACTGGG -3'

Sequencing Primer
(F):5'- GGAAGAGACTTGCTACACTGTATATC -3'
(R):5'- GGCAAATTACACAGCAATC -3'

Posted On

2019-10-07