Mutagenetix > Incidental Mutation

Incidental Mutation 'R7429:Mark4'

576312

Institutional Source

Beutler Lab

Gene Symbol

Mark4

Ensembl Gene

ENSMUSG00000030397

Gene Name

MAP/microtubule affinity regulating kinase 4

Synonyms

2410090P21Rik, Markl1

MMRRC Submission

045507-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7429 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19158700-19192746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 19160092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 723 (G723C)

Ref Sequence

ENSEMBL: ENSMUSP00000082862 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003643] [ENSMUST00000085715] [ENSMUST00000208710] [ENSMUST00000209058]

AlphaFold

Q8CIP4

Predicted Effect

probably benign
Transcript: ENSMUST00000003643

SMART Domains

Protein: ENSMUSP00000003643
Gene: ENSMUSG00000030399

Domain	Start	End	E-Value	Type
Pfam:ATP-gua_PtransN	24	99	5.2e-38	PFAM
Pfam:ATP-gua_Ptrans	120	367	2.6e-97	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000085715
AA Change: G723C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000082862
Gene: ENSMUSG00000030397
AA Change: G723C

Domain	Start	End	E-Value	Type
S_TKc	59	310	1.4e-109	SMART
UBA	331	368	9.62e-8	SMART
low complexity region	391	408	N/A	INTRINSIC
low complexity region	463	474	N/A	INTRINSIC
low complexity region	540	553	N/A	INTRINSIC
low complexity region	580	586	N/A	INTRINSIC
low complexity region	672	690	N/A	INTRINSIC
Pfam:KA1	709	752	1.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208710

Predicted Effect

probably benign
Transcript: ENSMUST00000209058

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the microtubule affinity-regulating kinase family. These protein kinases phosphorylate microtubule-associated proteins and regulate the transition between stable and dynamic microtubules. The encoded protein is associated with the centrosome throughout mitosis and may be involved in cell cycle control. Expression of this gene is a potential marker for cancer, and the encoded protein may also play a role in Alzheimer's disease. Pseudogenes of this gene are located on both the short and long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit insulin hypersensitivity and resistance to diet-induced obersity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	C	1: 85,859,028 (GRCm39)	C60R	unknown	Het
A430033K04Rik	A	G	5: 138,634,445 (GRCm39)	D20G	possibly damaging	Het
Aadacl4fm2	T	A	4: 144,291,626 (GRCm39)	I27F	probably benign	Het
Abca9	CA	C	11: 110,018,252 (GRCm39)		probably null	Het
Ankle2	C	T	5: 110,382,384 (GRCm39)	T120I	possibly damaging	Het
Ap2b1	C	T	11: 83,258,824 (GRCm39)	T765I	probably benign	Het
Atp8b4	A	T	2: 126,245,291 (GRCm39)	V286E	possibly damaging	Het
Brms1l	T	C	12: 55,892,084 (GRCm39)	L126P	probably damaging	Het
Btbd7	T	C	12: 102,804,039 (GRCm39)	T334A	probably damaging	Het
Cdh18	T	C	15: 23,366,942 (GRCm39)	V216A	possibly damaging	Het
Chka	A	G	19: 3,942,787 (GRCm39)	Y415C	probably damaging	Het
Cnih1	C	T	14: 47,017,679 (GRCm39)	V52I	possibly damaging	Het
Cox4i1	T	A	8: 121,400,770 (GRCm39)	M145K	probably damaging	Het
Cubn	G	T	2: 13,327,804 (GRCm39)	R2674S	possibly damaging	Het
Cyfip1	A	G	7: 55,550,341 (GRCm39)	E692G	probably damaging	Het
Dido1	G	A	2: 180,331,319 (GRCm39)	T43M	possibly damaging	Het
Edc4	T	C	8: 106,618,216 (GRCm39)	S1245P	probably damaging	Het
Enpp1	G	T	10: 24,587,848 (GRCm39)	H14Q	probably benign	Het
Etaa1	C	T	11: 17,890,281 (GRCm39)	R860Q	probably damaging	Het
Fam181b	G	A	7: 92,729,403 (GRCm39)	V59M	probably benign	Het
Fam184b	G	A	5: 45,698,230 (GRCm39)	T655I	probably benign	Het
Fcgr3	A	G	1: 170,885,442 (GRCm39)	M61T	probably benign	Het
Fign	T	C	2: 63,809,404 (GRCm39)	D622G	probably damaging	Het
Frmd3	A	G	4: 74,063,342 (GRCm39)	D223G	probably damaging	Het
Galnt4	A	G	10: 98,945,610 (GRCm39)	H445R	probably damaging	Het
Gm44501	A	G	17: 40,887,517 (GRCm39)	T12A	probably null	Het
Hnrnpll	T	A	17: 80,357,276 (GRCm39)	I247F	probably damaging	Het
Hs3st4	T	C	7: 123,996,605 (GRCm39)	F424L	probably damaging	Het
Ifi206	A	T	1: 173,308,157 (GRCm39)	V613E		Het
Insig1	T	C	5: 28,280,077 (GRCm39)	F223S	probably damaging	Het
Iqgap1	C	T	7: 80,401,188 (GRCm39)	E500K	probably benign	Het
Itgav	G	A	2: 83,624,602 (GRCm39)	V731M	probably damaging	Het
Lrrfip2	T	G	9: 111,014,194 (GRCm39)		probably null	Het
Marveld3	A	G	8: 110,675,100 (GRCm39)	S239P	possibly damaging	Het
Mast3	A	C	8: 71,232,947 (GRCm39)	C1122G	probably damaging	Het
Ms4a4d	A	G	19: 11,535,297 (GRCm39)	I198M	probably benign	Het
Mup14	C	T	4: 61,259,447 (GRCm39)	G35E	probably damaging	Het
Myo1a	T	A	10: 127,542,716 (GRCm39)	V118E	probably damaging	Het
Nfatc3	A	G	8: 106,835,035 (GRCm39)	T794A	probably benign	Het
Or1p1c	T	A	11: 74,160,579 (GRCm39)	D121E	probably damaging	Het
Or51g2	A	T	7: 102,622,969 (GRCm39)	S77T	probably damaging	Het
Or7g16	T	C	9: 18,726,650 (GRCm39)	*313W	probably null	Het
Pde6c	T	A	19: 38,129,887 (GRCm39)	Y266N	probably damaging	Het
Pde9a	T	C	17: 31,689,680 (GRCm39)	L435P	probably damaging	Het
Pgm1	T	A	4: 99,813,192 (GRCm39)	M1K	probably null	Het
Plcb4	T	C	2: 135,810,242 (GRCm39)	Y626H	probably damaging	Het
Rnf10	T	C	5: 115,386,739 (GRCm39)	N517D	probably damaging	Het
Rpap3	A	T	15: 97,586,031 (GRCm39)	L320Q	possibly damaging	Het
Rptor	T	C	11: 119,737,654 (GRCm39)	W576R	probably damaging	Het
Scarb2	T	C	5: 92,633,093 (GRCm39)	I80V	probably benign	Het
Serpinc1	A	G	1: 160,823,011 (GRCm39)	T251A	probably benign	Het
Sgk3	A	G	1: 9,942,483 (GRCm39)	D85G	probably benign	Het
Sipa1l3	T	C	7: 29,086,631 (GRCm39)	D653G	probably benign	Het
Slc2a1	A	G	4: 118,993,510 (GRCm39)	Y449C	probably damaging	Het
Snx13	T	C	12: 35,183,357 (GRCm39)	V760A	possibly damaging	Het
Snx7	T	C	3: 117,630,861 (GRCm39)	N249S	probably benign	Het
Soat2	C	A	15: 102,062,735 (GRCm39)	H124Q	probably damaging	Het
Sugt1	T	A	14: 79,857,241 (GRCm39)		probably null	Het
Syne2	C	T	12: 75,980,770 (GRCm39)	T1509M	probably damaging	Het
Syne2	T	A	12: 76,087,184 (GRCm39)	L214*	probably null	Het
Taok2	T	C	7: 126,469,849 (GRCm39)	Q993R	possibly damaging	Het
Tmem161b	A	G	13: 84,430,866 (GRCm39)		probably null	Het
Tspan17	G	A	13: 54,943,785 (GRCm39)	E213K	probably benign	Het
Ttc6	T	A	12: 57,704,888 (GRCm39)	I631N	probably benign	Het
Ttn	T	A	2: 76,641,283 (GRCm39)	L13574F	probably damaging	Het
U2af1l4	A	G	7: 30,262,815 (GRCm39)	E12G	probably benign	Het
Usp39	T	C	6: 72,319,900 (GRCm39)	Y106C	probably damaging	Het
Vmn1r185	A	C	7: 26,310,603 (GRCm39)	F301V	probably benign	Het
Zbp1	T	A	2: 173,055,611 (GRCm39)	K184N	unknown	Het
Zfp438	A	G	18: 5,214,139 (GRCm39)	V273A	probably benign	Het
Zswim5	A	G	4: 116,833,054 (GRCm39)	T596A	possibly damaging	Het

Other mutations in Mark4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Mark4	APN	7	19,165,749 (GRCm39)	missense	possibly damaging	0.50
IGL02321:Mark4	APN	7	19,160,314 (GRCm39)	missense	probably benign
IGL02813:Mark4	APN	7	19,181,181 (GRCm39)	splice site	probably null
IGL03088:Mark4	APN	7	19,185,509 (GRCm39)	missense	probably damaging	1.00
breakfast	UTSW	7	19,177,151 (GRCm39)	missense	probably damaging	1.00
R3828_Mark4_841	UTSW	7	19,177,112 (GRCm39)	missense	possibly damaging	0.65
Towncar	UTSW	7	19,181,168 (GRCm39)	missense	possibly damaging	0.95
R0555:Mark4	UTSW	7	19,182,598 (GRCm39)	splice site	probably benign
R1278:Mark4	UTSW	7	19,165,695 (GRCm39)	missense	probably damaging	0.99
R1385:Mark4	UTSW	7	19,159,952 (GRCm39)	splice site	probably null
R3415:Mark4	UTSW	7	19,185,650 (GRCm39)	missense	probably benign	0.00
R3828:Mark4	UTSW	7	19,177,112 (GRCm39)	missense	possibly damaging	0.65
R4281:Mark4	UTSW	7	19,167,371 (GRCm39)	missense	probably benign	0.09
R4682:Mark4	UTSW	7	19,179,097 (GRCm39)	splice site	probably null
R4791:Mark4	UTSW	7	19,185,582 (GRCm39)	missense	probably benign	0.19
R5184:Mark4	UTSW	7	19,181,168 (GRCm39)	missense	possibly damaging	0.95
R5319:Mark4	UTSW	7	19,170,886 (GRCm39)	missense	possibly damaging	0.95
R5330:Mark4	UTSW	7	19,170,908 (GRCm39)	missense	probably damaging	1.00
R5488:Mark4	UTSW	7	19,163,532 (GRCm39)	splice site	probably null
R5811:Mark4	UTSW	7	19,182,564 (GRCm39)	missense	probably damaging	1.00
R6058:Mark4	UTSW	7	19,160,310 (GRCm39)	missense	probably benign	0.10
R6148:Mark4	UTSW	7	19,163,441 (GRCm39)	missense	probably benign	0.00
R6333:Mark4	UTSW	7	19,177,208 (GRCm39)	missense	probably damaging	0.98
R6698:Mark4	UTSW	7	19,163,362 (GRCm39)	missense	probably benign	0.01
R7265:Mark4	UTSW	7	19,185,650 (GRCm39)	missense	probably benign	0.00
R7664:Mark4	UTSW	7	19,177,151 (GRCm39)	missense	probably damaging	1.00
R8027:Mark4	UTSW	7	19,181,164 (GRCm39)	missense	possibly damaging	0.71
R9321:Mark4	UTSW	7	19,170,901 (GRCm39)	missense	probably benign	0.11
R9610:Mark4	UTSW	7	19,167,338 (GRCm39)	missense	possibly damaging	0.46
R9611:Mark4	UTSW	7	19,167,338 (GRCm39)	missense	possibly damaging	0.46
R9649:Mark4	UTSW	7	19,160,015 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- TCAGTCATGACACAGGGCAC -3'
(R):5'- TGGAGTGTGAAGCTGACCAG -3'

Sequencing Primer
(F):5'- GGCACCCTCTCCTCTGTC -3'
(R):5'- TGACCAGCTCGCGACCTC -3'

Posted On

2019-10-07