Mutagenetix > Incidental Mutation

Incidental Mutation 'R6148:Mark4'

489019

Institutional Source

Beutler Lab

Gene Symbol

Mark4

Ensembl Gene

ENSMUSG00000030397

Gene Name

MAP/microtubule affinity regulating kinase 4

Synonyms

2410090P21Rik, Markl1

MMRRC Submission

044295-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6148 (G1)

Quality Score

159.009

Status

Validated

Chromosome

Chromosomal Location

19158700-19192746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19163441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 563 (S563T)

Ref Sequence

ENSEMBL: ENSMUSP00000082862 (fasta)

Gene Model

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

AlphaFold

Q8CIP4

Predicted Effect

probably benign
Transcript: ENSMUST00000085715
AA Change: S563T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000082862
Gene: ENSMUSG00000030397
AA Change: S563T

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

noncoding transcript
Transcript: ENSMUST00000207767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208650

Predicted Effect

probably benign
Transcript: ENSMUST00000209058

Meta Mutation Damage Score

0.0582

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

95% (61/64)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,234,200 (GRCm39)	C1067S	possibly damaging	Het
AAdacl4fm3	T	C	4: 144,447,887 (GRCm39)	T30A	possibly damaging	Het
Agbl3	T	A	6: 34,834,688 (GRCm39)	S952R	possibly damaging	Het
Ano9	A	G	7: 140,686,698 (GRCm39)	Y429H	probably damaging	Het
Bbs7	C	A	3: 36,667,415 (GRCm39)	R7L	probably damaging	Het
Birc2	T	A	9: 7,849,684 (GRCm39)	D535V	possibly damaging	Het
Catsper4	A	G	4: 133,945,240 (GRCm39)	V206A	probably damaging	Het
Ccdc73	T	G	2: 104,822,482 (GRCm39)	S810R	possibly damaging	Het
Cd177	A	T	7: 24,443,698 (GRCm39)	L800*	probably null	Het
Cd34	T	C	1: 194,630,316 (GRCm39)		probably null	Het
Cep78	G	A	19: 15,959,150 (GRCm39)	R95*	probably null	Het
Cfap69	T	C	5: 5,713,996 (GRCm39)	D12G	probably benign	Het
Cpne7	A	G	8: 123,854,171 (GRCm39)	D286G	probably benign	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,759,803 (GRCm39)		probably null	Het
Cxcl5	A	T	5: 90,907,565 (GRCm39)	I46L	probably benign	Het
Cyp19a1	C	T	9: 54,087,540 (GRCm39)	G59D	probably damaging	Het
Dclre1c	A	G	2: 3,438,742 (GRCm39)	D35G	probably damaging	Het
Defa41	A	G	8: 21,692,428 (GRCm39)	N83S	probably benign	Het
Dvl1	A	G	4: 155,939,409 (GRCm39)	Y279C	probably damaging	Het
Fes	A	G	7: 80,030,044 (GRCm39)	L578P	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fmn2	T	C	1: 174,494,229 (GRCm39)	S1248P	probably damaging	Het
Fmo1	T	G	1: 162,679,088 (GRCm39)	S53R	probably damaging	Het
Gabrg1	A	T	5: 70,931,804 (GRCm39)	M313K	probably damaging	Het
Galnt10	T	C	11: 57,675,474 (GRCm39)	C578R	probably damaging	Het
Gpr39	T	C	1: 125,800,323 (GRCm39)	V358A	probably damaging	Het
Gsap	A	G	5: 21,431,323 (GRCm39)	R216G	probably damaging	Het
Gsap	A	T	5: 21,475,575 (GRCm39)	T570S	probably benign	Het
Gucy2d	A	T	7: 98,093,030 (GRCm39)	I136L	probably benign	Het
Hap1	A	T	11: 100,240,218 (GRCm39)	V294E	probably damaging	Het
Ipo8	A	G	6: 148,701,278 (GRCm39)	V514A	probably damaging	Het
Irf5	T	C	6: 29,535,958 (GRCm39)	L324P	probably damaging	Het
Itsn1	C	T	16: 91,613,740 (GRCm39)	R251C	probably damaging	Het
Klf11	T	C	12: 24,701,567 (GRCm39)		probably null	Het
Kpna6	G	A	4: 129,543,099 (GRCm39)	Q439*	probably null	Het
Mrpl21	A	T	19: 3,333,084 (GRCm39)	I5L	probably benign	Het
Muc4	T	C	16: 32,753,802 (GRCm38)	I1226T	probably benign	Het
Myrf	G	A	19: 10,189,839 (GRCm39)	T815I	probably damaging	Het
Olfr515-ps1	A	T	7: 108,444,178 (GRCm39)		probably null	Het
Or10d4c	G	T	9: 39,558,555 (GRCm39)	D178Y	probably damaging	Het
Or11g27	A	G	14: 50,771,778 (GRCm39)	N303S	probably benign	Het
Or4c15	C	T	2: 88,760,597 (GRCm39)	V21I	probably benign	Het
Or52n3	A	G	7: 104,530,289 (GRCm39)	Y125C	possibly damaging	Het
Os9	T	C	10: 126,935,812 (GRCm39)	D280G	probably benign	Het
Pcdhb14	A	G	18: 37,582,283 (GRCm39)	N463S	probably damaging	Het
Pex19	G	A	1: 171,961,606 (GRCm39)	E271K	probably damaging	Het
Ppdpf	G	A	2: 180,829,641 (GRCm39)	S32N	probably benign	Het
Prdm2	A	G	4: 142,859,477 (GRCm39)	I1271T	probably benign	Het
Rbbp4	T	C	4: 129,215,751 (GRCm39)	T262A	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Spaca9	G	A	2: 28,583,793 (GRCm39)	R64W	probably damaging	Het
Sult1e1	A	T	5: 87,727,770 (GRCm39)	S171T	probably damaging	Het
Tns1	T	C	1: 73,992,612 (GRCm39)	T689A	probably damaging	Het
Unc13c	G	C	9: 73,600,648 (GRCm39)	N1365K	probably benign	Het
Vmn2r52	T	C	7: 9,905,090 (GRCm39)	I250V	probably benign	Het
Vmn2r55	C	A	7: 12,402,069 (GRCm39)	L406F	probably benign	Het
Wdcp	T	C	12: 4,900,621 (GRCm39)	V159A	possibly damaging	Het
Zbtb3	C	T	19: 8,781,560 (GRCm39)	A391V	probably benign	Het
Znhit1	A	T	5: 137,011,487 (GRCm39)	S109T	probably benign	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
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
R7429:Mark4	UTSW	7	19,160,092 (GRCm39)	missense	probably damaging	0.99
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'- CAGCTTGGTGAAGAGGTTGG -3'
(R):5'- TTGGAGGTCTAGTGTTACAGCA -3'

Sequencing Primer
(F):5'- AAGAGGTTGGTGGTGGGGC -3'
(R):5'- CGTAACTCTGAAAAATGGTCTGGTC -3'

Posted On

2017-10-10