Mutagenetix > Incidental Mutation

Incidental Mutation 'R9321:Mark4'

706200

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 #

R9321 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19158700-19192746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 19170901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 323 (T323K)

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: T323K

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000082862
Gene: ENSMUSG00000030397
AA Change: T323K

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,460,475 (GRCm39)	S4162G	probably benign	Het
Acvr2b	T	C	9: 119,257,351 (GRCm39)	I152T	probably benign	Het
Adam15	T	A	3: 89,254,794 (GRCm39)		probably null	Het
Adam34	C	T	8: 44,105,243 (GRCm39)	G134D	probably damaging	Het
Aifm2	C	T	10: 61,571,410 (GRCm39)	Q315*	probably null	Het
Akap10	A	G	11: 61,791,235 (GRCm39)	F408S	probably damaging	Het
Ap3b2	T	C	7: 81,114,252 (GRCm39)		probably null	Het
Btbd2	A	C	10: 80,483,675 (GRCm39)	V181G	probably damaging	Het
Carmil3	G	T	14: 55,741,425 (GRCm39)	G1070V		Het
Ceacam2	G	T	7: 25,230,089 (GRCm39)	D172E	possibly damaging	Het
Crtc3	G	A	7: 80,259,650 (GRCm39)	A203V	probably benign	Het
Dclre1a	A	G	19: 56,531,100 (GRCm39)	S749P	probably damaging	Het
Dnah2	C	T	11: 69,338,939 (GRCm39)		probably null	Het
Eif2ak4	G	A	2: 118,292,798 (GRCm39)	V1341M	possibly damaging	Het
Enpp5	T	C	17: 44,393,689 (GRCm39)	V295A	possibly damaging	Het
Gm1110	T	A	9: 26,831,891 (GRCm39)	M87L	probably benign	Het
Gm57858	A	T	3: 36,073,139 (GRCm39)	V381E	probably damaging	Het
H2-Ab1	T	C	17: 34,486,969 (GRCm39)	L241P	probably damaging	Het
Hmx2	A	G	7: 131,157,320 (GRCm39)	T145A	probably benign	Het
Irag1	A	G	7: 110,524,534 (GRCm39)	S138P	probably benign	Het
Itpripl1	T	C	2: 126,984,000 (GRCm39)	S41G	probably benign	Het
Kcnb2	G	A	1: 15,779,793 (GRCm39)	D222N	possibly damaging	Het
Ldb3	C	A	14: 34,266,099 (GRCm39)	G499*	probably null	Het
Lig1	T	C	7: 13,034,935 (GRCm39)	F577S	probably damaging	Het
Lnx1	T	C	5: 74,780,991 (GRCm39)	I177V	probably damaging	Het
Mroh5	A	G	15: 73,661,113 (GRCm39)	V301A	probably benign	Het
Mtx3	T	A	13: 92,984,097 (GRCm39)	W125R	probably damaging	Het
Myo18a	G	A	11: 77,733,370 (GRCm39)	G1404R	probably damaging	Het
Myom2	C	T	8: 15,172,464 (GRCm39)	P1188S	possibly damaging	Het
Nars1	C	T	18: 64,637,950 (GRCm39)	E335K	probably damaging	Het
Nfya	A	T	17: 48,707,494 (GRCm39)	V16E	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Nme5	T	G	18: 34,704,597 (GRCm39)	I83L	probably benign	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nptx1	A	G	11: 119,438,378 (GRCm39)	L13P	unknown	Het
Or11g27	G	A	14: 50,771,471 (GRCm39)	V201I	probably benign	Het
Or13c25	G	T	4: 52,911,314 (GRCm39)	T160N	probably damaging	Het
Or13m2-ps1	T	A	6: 42,777,792 (GRCm39)	V39D	possibly damaging	Het
Or4k44	A	G	2: 111,368,434 (GRCm39)	S67P	probably damaging	Het
Or5j3	A	T	2: 86,128,297 (GRCm39)	I46F	probably benign	Het
Or6d13	T	C	6: 116,518,370 (GRCm39)	Y319H	probably benign	Het
Pdzd2	T	C	15: 12,386,023 (GRCm39)	T916A	probably benign	Het
Plekha6	A	G	1: 133,209,549 (GRCm39)	N615S	probably damaging	Het
Prorp	A	G	12: 55,351,434 (GRCm39)	I248V	possibly damaging	Het
Rad52	T	C	6: 119,889,969 (GRCm39)	Y32H	probably damaging	Het
Slc22a16	T	A	10: 40,450,047 (GRCm39)	I161N	probably damaging	Het
Slx4	A	G	16: 3,804,654 (GRCm39)	M720T	probably benign	Het
Spem1	T	C	11: 69,712,661 (GRCm39)	H58R	probably benign	Het
Spg7	C	A	8: 123,803,688 (GRCm39)	D239E	probably benign	Het
Tas2r123	A	T	6: 132,825,095 (GRCm39)	M331L	probably benign	Het
Tcaf1	T	C	6: 42,656,290 (GRCm39)	T229A	probably benign	Het
Tdrd1	T	C	19: 56,848,767 (GRCm39)	L939P	probably damaging	Het
Timd2	T	C	11: 46,577,916 (GRCm39)	T72A	probably benign	Het
Tmem179	G	T	12: 112,477,390 (GRCm39)	N31K	probably damaging	Het
Tpd52l1	T	C	10: 31,214,189 (GRCm39)	S165G		Het
Tubgcp6	T	C	15: 88,992,186 (GRCm39)	T600A	probably damaging	Het
Txlna	T	A	4: 129,528,246 (GRCm39)	E230D	probably damaging	Het
Ush2a	A	T	1: 188,089,148 (GRCm39)	I368F	probably damaging	Het
Vmn1r76	A	T	7: 11,665,094 (GRCm39)	M40K	possibly damaging	Het
Zfp592	C	T	7: 80,691,226 (GRCm39)	S1135L	possibly damaging	Het
Zfp606	A	G	7: 12,226,610 (GRCm39)	T244A	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
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
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'- CACACAGCTCGAACATGGTG -3'
(R):5'- GCTCTTAGGATGATTACAGGGTGC -3'

Sequencing Primer
(F):5'- TGCTGGGAGAGACATTCCTCAAC -3'
(R):5'- ATTACAGGGTGCTGGGGAC -3'

Posted On

2022-04-18