Mutagenetix > Incidental Mutation

Incidental Mutation 'R9610:Mark4'

724143

Institutional Source

Beutler Lab

Gene Symbol

Mark4

Ensembl Gene

ENSMUSG00000030397

Gene Name

MAP/microtubule affinity regulating kinase 4

Synonyms

2410090P21Rik, Markl1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9610 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19158700-19192746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 19167338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 467 (R467L)

Ref Sequence

ENSEMBL: ENSMUSP00000082862 (fasta)

Gene Model

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

AlphaFold

Q8CIP4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085715
AA Change: R467L

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000082862
Gene: ENSMUSG00000030397
AA Change: R467L

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: ENSMUST00000209058

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	T	18: 59,023,399 (GRCm39)	T265S	probably benign	Het
Arhgef5	A	G	6: 43,257,890 (GRCm39)	I1311M	probably damaging	Het
Bcr	T	A	10: 74,990,743 (GRCm39)	Y750N	probably damaging	Het
Bcr	T	A	10: 74,990,745 (GRCm39)	Y750*	probably null	Het
Btbd16	T	A	7: 130,407,595 (GRCm39)	M295K	probably benign	Het
Ccdc88a	T	C	11: 29,427,316 (GRCm39)	L1007P	possibly damaging	Het
Cnep1r1	A	G	8: 88,860,457 (GRCm39)	*126W	probably null	Het
Cstf1	T	A	2: 172,214,984 (GRCm39)	I35N	probably benign	Het
Cstpp1	T	C	2: 91,135,127 (GRCm39)	D111G	probably damaging	Het
Cul9	A	G	17: 46,830,823 (GRCm39)	L1690P	possibly damaging	Het
Dnm2	A	T	9: 21,414,973 (GRCm39)	K677*	probably null	Het
Dscaml1	C	A	9: 45,579,522 (GRCm39)	N356K	possibly damaging	Het
Dvl3	A	G	16: 20,346,008 (GRCm39)	D446G	probably damaging	Het
Ecm2	A	G	13: 49,668,518 (GRCm39)	N74D	probably benign	Het
Ecm2	A	G	13: 49,681,216 (GRCm39)	I450M	probably damaging	Het
Emc1	T	A	4: 139,091,035 (GRCm39)	D460E	probably benign	Het
Fhip2b	T	C	14: 70,824,258 (GRCm39)	Y493C	probably benign	Het
Fuom	T	A	7: 139,679,828 (GRCm39)	E121V	possibly damaging	Het
Fyco1	T	C	9: 123,657,585 (GRCm39)	T864A	possibly damaging	Het
Galk2	T	C	2: 125,817,218 (GRCm39)	Y336H	probably damaging	Het
Gcsh	T	A	8: 117,720,125 (GRCm39)	Y14F	probably benign	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gucy2g	T	C	19: 55,194,605 (GRCm39)	I937M	probably damaging	Het
Hsp90ab1	T	C	17: 45,880,600 (GRCm39)	I370M	possibly damaging	Het
Hypk	T	C	2: 121,288,154 (GRCm39)	S72P	probably damaging	Het
Izumo1r	T	G	9: 14,811,840 (GRCm39)	I183L	possibly damaging	Het
Kctd13	G	T	7: 126,544,180 (GRCm39)	G293C	probably damaging	Het
Kmt2d	CTGTTG	CTG	15: 98,743,057 (GRCm39)		probably benign	Het
Krt13	T	C	11: 100,012,318 (GRCm39)	S2G	probably benign	Het
Mrps33	T	A	6: 39,779,422 (GRCm39)	K91M	probably damaging	Het
Muc5ac	T	A	7: 141,350,078 (GRCm39)	V608D	possibly damaging	Het
Myb	G	A	10: 21,030,627 (GRCm39)	Q57*	probably null	Het
Or51f1	T	G	7: 102,506,147 (GRCm39)	H114P	probably damaging	Het
Peg10	GCAC	GCACCAC	6: 4,756,452 (GRCm39)		probably benign	Het
Phldb3	G	A	7: 24,328,372 (GRCm39)	V639M	probably damaging	Het
Pip4k2c	A	C	10: 127,036,069 (GRCm39)	L266R	probably damaging	Het
Plg	T	C	17: 12,609,213 (GRCm39)	Y173H	probably benign	Het
Pmp22	G	T	11: 63,024,065 (GRCm39)	V25F	probably benign	Het
Ppp1r16b	T	A	2: 158,537,998 (GRCm39)	Y40N	probably damaging	Het
Prl5a1	A	G	13: 28,329,492 (GRCm39)	E57G	possibly damaging	Het
Psmb10	A	G	8: 106,664,144 (GRCm39)	F75S	probably benign	Het
Ptprm	C	A	17: 67,000,483 (GRCm39)	R1167M	probably damaging	Het
Rbm46	T	C	3: 82,771,541 (GRCm39)	H358R	probably benign	Het
Rgl1	A	G	1: 152,397,115 (GRCm39)	S684P	probably benign	Het
Rmnd5b	T	C	11: 51,517,869 (GRCm39)	I162V	probably damaging	Het
Sh3d19	T	C	3: 86,014,529 (GRCm39)	V440A	possibly damaging	Het
Sik1	T	A	17: 32,073,246 (GRCm39)	K70M	probably damaging	Het
Slc44a4	C	T	17: 35,147,793 (GRCm39)	S611F	probably benign	Het
Stk32a	A	G	18: 43,430,620 (GRCm39)	I177V	probably benign	Het
Syt7	G	A	19: 10,421,459 (GRCm39)	D548N	probably benign	Het
Tcf7l2	A	G	19: 55,899,038 (GRCm39)	D215G	probably null	Het
Tex14	T	A	11: 87,377,084 (GRCm39)	F143I	probably damaging	Het
Tjp3	A	G	10: 81,119,411 (GRCm39)	V26A	possibly damaging	Het
Tpx2	T	A	2: 152,715,124 (GRCm39)	V115D	probably benign	Het
Tubb2b	C	A	13: 34,311,742 (GRCm39)	K350N	probably damaging	Het
Usf3	T	C	16: 44,036,936 (GRCm39)	V472A	probably benign	Het
Vps13b	G	T	15: 35,642,555 (GRCm39)	G1389V	possibly damaging	Het
Vps39	T	C	2: 120,172,485 (GRCm39)	R183G	probably damaging	Het
Wnk4	G	T	11: 101,159,250 (GRCm39)	E556*	probably null	Het
Xpo7	T	A	14: 70,925,617 (GRCm39)	E474V	probably benign	Het
Zbtb18	A	G	1: 177,275,341 (GRCm39)	R234G	probably null	Het
Zc3h14	T	A	12: 98,737,663 (GRCm39)	I50N	possibly damaging	Het
Zfat	A	G	15: 68,051,655 (GRCm39)	V713A	possibly damaging	Het
Zfp462	T	C	4: 55,009,545 (GRCm39)	S504P	possibly damaging	Het
Zmiz1	T	C	14: 25,651,022 (GRCm39)	V502A	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
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
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
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'- AATTTCTGTGGTGAGAGGCAAG -3'
(R):5'- TTGTGTCTCTAGTGACCCCAGC -3'

Sequencing Primer
(F):5'- TGTATGCACACATAGTAAATGCTTG -3'
(R):5'- TAGTGACCCCAGCTCTAACTG -3'

Posted On

2022-09-12