Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00095:Mark1'

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1930

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mark1

Ensembl Gene

ENSMUSG00000026620

Gene Name

MAP/microtubule affinity regulating kinase 1

Synonyms

Emk3, B930025N23Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

IGL00095

Quality Score

Status

Chromosome

Chromosomal Location

184896789-184999570 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 184898603 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 770 (V770A)

Ref Sequence

ENSEMBL: ENSMUSP00000027929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027929]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027929
AA Change: V770A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027929
Gene: ENSMUSG00000026620
AA Change: V770A

Domain	Start	End	E-Value	Type
S_TKc	60	311	1.12e-108	SMART
low complexity region	316	328	N/A	INTRINSIC
UBA	332	369	4.56e-9	SMART
low complexity region	376	386	N/A	INTRINSIC
low complexity region	523	547	N/A	INTRINSIC
low complexity region	585	599	N/A	INTRINSIC
Pfam:KA1	751	795	4.5e-23	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cadm2	A	T	16: 66,882,751	Y65N	probably damaging	Het
Catsperg2	C	A	7: 29,698,058	C1042F	possibly damaging	Het
Cluh	T	C	11: 74,664,064	V776A	probably benign	Het
Crxos	T	A	7: 15,898,618	C116*	probably null	Het
Csmd1	A	G	8: 16,009,297		probably benign	Het
Cubn	C	A	2: 13,491,820		probably benign	Het
Exoc2	A	G	13: 30,820,626	I858T	probably benign	Het
Fam105a	A	G	15: 27,658,116	S273P	possibly damaging	Het
Frmpd1	C	A	4: 45,279,456	T727K	possibly damaging	Het
Gm3139	T	C	5: 94,537,804	L441P	probably damaging	Het
Hapln3	T	C	7: 79,121,983	T53A	probably damaging	Het
Hnrnpul1	T	A	7: 25,726,154	Q584L	possibly damaging	Het
Ikbkb	A	T	8: 22,706,111	F26I	probably damaging	Het
Il31ra	A	T	13: 112,547,478	I120N	possibly damaging	Het
Itih1	C	T	14: 30,929,821	V855M	probably benign	Het
Krtap4-16	A	G	11: 99,851,206	S123P	possibly damaging	Het
Large1	C	T	8: 72,837,497	R547Q	probably damaging	Het
Madd	A	G	2: 91,175,766		probably benign	Het
Mpeg1	T	C	19: 12,462,710	F511L	probably benign	Het
Mrgpra9	A	G	7: 47,235,091	V276A	possibly damaging	Het
Nav3	T	C	10: 109,841,733	T666A	probably damaging	Het
Ndufa8	T	C	2: 36,044,455	D37G	probably damaging	Het
Nlrx1	A	G	9: 44,253,279	L956P	probably damaging	Het
Nr5a1	T	C	2: 38,708,341	E148G	probably benign	Het
Olfr310	T	C	7: 86,269,669	N40S	probably damaging	Het
Olfr509	A	T	7: 108,645,836	F247I	possibly damaging	Het
Patj	A	C	4: 98,535,562	Q1184P	possibly damaging	Het
Phf20l1	A	G	15: 66,629,035	T619A	probably benign	Het
Pla2g6	T	C	15: 79,289,241	T643A	probably damaging	Het
Radil	A	G	5: 142,497,922	S510P	probably damaging	Het
Spock1	A	G	13: 57,587,739		probably benign	Het
Stag3	C	T	5: 138,299,138	T577M	probably damaging	Het
Tap2	C	T	17: 34,215,378	R613C	probably benign	Het
Tnn	A	G	1: 160,125,451	V673A	possibly damaging	Het
Trrap	T	C	5: 144,779,974		probably benign	Het
Vmn2r28	T	C	7: 5,488,069	D393G	probably benign	Het
Zbtb48	T	C	4: 152,021,394	H418R	probably damaging	Het
Zc3h12d	T	C	10: 7,862,467	V179A	probably damaging	Het

Other mutations in Mark1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00674:Mark1	APN	1	184912106	missense	probably benign
IGL01903:Mark1	APN	1	184929380	splice site	probably benign
IGL02004:Mark1	APN	1	184912589	missense	possibly damaging	0.82
IGL03177:Mark1	APN	1	184944907	missense	probably damaging	1.00
IGL03189:Mark1	APN	1	184919693	missense	probably damaging	0.96
IGL03391:Mark1	APN	1	184919435	unclassified	probably benign
R0277:Mark1	UTSW	1	184944952	missense	possibly damaging	0.89
R0744:Mark1	UTSW	1	184921608	missense	probably damaging	1.00
R0973:Mark1	UTSW	1	184921604	missense	probably damaging	1.00
R1331:Mark1	UTSW	1	184928048	missense	probably damaging	1.00
R2061:Mark1	UTSW	1	184928063	missense	probably damaging	1.00
R2136:Mark1	UTSW	1	184919573	missense	probably damaging	1.00
R2306:Mark1	UTSW	1	184900861	splice site	probably benign
R3159:Mark1	UTSW	1	184908387	missense	probably damaging	1.00
R3905:Mark1	UTSW	1	184908435	splice site	probably null
R4321:Mark1	UTSW	1	184898674	missense	possibly damaging	0.46
R4512:Mark1	UTSW	1	184907089	missense	probably benign	0.21
R4715:Mark1	UTSW	1	184912132	missense	probably benign	0.00
R4829:Mark1	UTSW	1	184905527	missense	possibly damaging	0.82
R5163:Mark1	UTSW	1	184905610	missense	probably damaging	0.98
R5222:Mark1	UTSW	1	184928091	missense	probably damaging	1.00
R5680:Mark1	UTSW	1	184944816	missense	probably damaging	1.00
R6582:Mark1	UTSW	1	184912589	missense	possibly damaging	0.82
R6943:Mark1	UTSW	1	184898787	missense	probably damaging	1.00
R6979:Mark1	UTSW	1	184912628	missense	possibly damaging	0.77
R7031:Mark1	UTSW	1	184912632	missense	possibly damaging	0.82
R7455:Mark1	UTSW	1	184919750	missense	probably damaging	0.99
R7470:Mark1	UTSW	1	184928044	nonsense	probably null
R7715:Mark1	UTSW	1	184907234	missense	probably damaging	0.98
R8193:Mark1	UTSW	1	184928052	missense	probably damaging	0.99
R8474:Mark1	UTSW	1	184919586	missense	probably damaging	1.00

Posted On

2011-07-12