Mutagenetix > Incidental Mutation

Incidental Mutation 'R1456:Camk4'

161829

Institutional Source

Beutler Lab

Gene Symbol

Camk4

Ensembl Gene

ENSMUSG00000038128

Gene Name

calcium/calmodulin-dependent protein kinase IV

Synonyms

D18Bwg0362e, CaMKIV/Gr, CaMKIV, Ca2+/calmodulin-dependent protein kinase type IV/Gr, A430110E23Rik

MMRRC Submission

039511-MU

Accession Numbers

Genbank: NM_009793; MGI: 88258

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R1456 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32939041-33195767 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 33129843 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000046539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042868]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000042868

SMART Domains

Protein: ENSMUSP00000046539
Gene: ENSMUSG00000038128

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
S_TKc	42	296	8.7e-106	SMART
low complexity region	318	344	N/A	INTRINSIC
low complexity region	373	390	N/A	INTRINSIC
low complexity region	415	428	N/A	INTRINSIC
low complexity region	441	454	N/A	INTRINSIC

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.9%

Validation Efficiency

98% (90/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This enzyme is a multifunctional serine/threonine protein kinase with limited tissue distribution, that has been implicated in transcriptional regulation in lymphocytes, neurons and male germ cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for different targeted mutations show variable phenotypes, including reduced viability, male and/or female sterility, and mild to severe neurological and spatial memory disorders. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted, knock-out(3) Targeted, other(1)

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,480,920		probably null	Het
4930563D23Rik	T	A	16: 92,320,665	Y245F	probably damaging	Het
4932414N04Rik	A	T	2: 68,716,214	E80V	possibly damaging	Het
Alkbh3	A	G	2: 94,001,419		probably null	Het
Ankar	A	T	1: 72,665,118	Y664N	probably benign	Het
Arhgap18	T	C	10: 26,916,440	I629T	probably benign	Het
Arhgef28	C	T	13: 98,075,002	E158K	probably benign	Het
Asxl2	C	T	12: 3,501,872	H1205Y	possibly damaging	Het
Birc6	A	G	17: 74,609,290	I427V	probably benign	Het
Ccdc178	A	T	18: 22,150,424	D16E	possibly damaging	Het
Cct6b	G	T	11: 82,753,620		probably benign	Het
Ccz1	A	G	5: 144,011,018		probably benign	Het
Cdh23	T	C	10: 60,487,120	N335S	possibly damaging	Het
Cemip	T	A	7: 83,998,510	S121C	possibly damaging	Het
Cers1	A	G	8: 70,331,188	E262G	probably damaging	Het
Clec11a	G	T	7: 44,306,450	P58T	possibly damaging	Het
Clec16a	T	C	16: 10,691,555	I797T	probably damaging	Het
Col4a1	A	C	8: 11,242,829		probably benign	Het
Colgalt2	G	A	1: 152,484,904	V231I	probably damaging	Het
D430041D05Rik	G	T	2: 104,208,083	N1580K	probably damaging	Het
Dcdc5	A	G	2: 106,351,565		noncoding transcript	Het
Ddx17	T	C	15: 79,530,376	D530G	probably benign	Het
Dhx9	A	T	1: 153,465,695	D601E	probably benign	Het
Dnah3	A	G	7: 120,047,630	Y1059H	probably damaging	Het
Dtx1	C	A	5: 120,710,504		probably benign	Het
Egfr	A	G	11: 16,863,065	S182G	probably benign	Het
Fads1	A	G	19: 10,185,752	N131S	probably benign	Het
Fancm	C	T	12: 65,118,351	A1490V	possibly damaging	Het
Fsd2	C	A	7: 81,559,591	E168*	probably null	Het
Gm20388	T	C	8: 122,841,948		probably benign	Het
Gm9772	A	T	17: 22,007,118	C62S	probably damaging	Het
H60c	C	T	10: 3,260,307	A81T	possibly damaging	Het
Hira	T	G	16: 18,925,663	S377A	probably benign	Het
Iffo1	T	C	6: 125,145,914	S220P	possibly damaging	Het
Itih4	A	G	14: 30,892,653	M491V	probably benign	Het
Khdrbs2	T	C	1: 32,520,696	R102G	possibly damaging	Het
Klhdc7a	T	G	4: 139,965,524	Y704S	possibly damaging	Het
Klk1b21	G	A	7: 44,105,499	V73I	probably benign	Het
Krt42	G	A	11: 100,269,609	A88V	probably benign	Het
Krt42	C	T	11: 100,269,610	A88T	probably benign	Het
Limk1	G	T	5: 134,657,510	D580E	probably benign	Het
Lipk	C	T	19: 34,046,785	P323S	probably damaging	Het
Lipo5	T	A	19: 33,465,873		probably benign	Het
Llgl2	A	G	11: 115,845,499	D166G	probably benign	Het
Mapk8ip3	A	T	17: 24,906,949	N439K	probably damaging	Het
Mapkbp1	C	T	2: 119,973,145	R32W	probably damaging	Het
Med23	T	A	10: 24,903,652		probably benign	Het
Mrgprb1	A	T	7: 48,448,029	M45K	probably damaging	Het
Mroh7	G	A	4: 106,695,141		probably benign	Het
Mrpl27	G	A	11: 94,653,833		probably benign	Het
Ms4a10	T	A	19: 10,964,733	T175S	possibly damaging	Het
Muc3	T	C	5: 137,137,951	H330R	probably benign	Het
Myo15	A	T	11: 60,508,202	I2787F	probably damaging	Het
Ndst1	A	G	18: 60,713,205	C11R	possibly damaging	Het
Obsl1	C	A	1: 75,487,656	G1669*	probably null	Het
Olfr477	A	G	7: 107,990,398	E11G	probably benign	Het
Olfr784	A	T	10: 129,387,783	D50V	probably damaging	Het
Olfr873	T	C	9: 20,300,838	Y214H	probably benign	Het
Pafah2	T	A	4: 134,404,157	I52N	probably damaging	Het
Pcsk6	A	T	7: 66,043,535	I693F	possibly damaging	Het
Pde4c	G	T	8: 70,746,613	R228L	probably benign	Het
Pdzd8	T	C	19: 59,300,472	N832S	probably benign	Het
Plbd1	T	A	6: 136,613,816	M451L	probably benign	Het
Pramef17	G	T	4: 143,993,281	D171E	probably benign	Het
Prom1	T	C	5: 44,037,623	D260G	probably damaging	Het
Ranbp17	A	G	11: 33,266,310	S813P	probably damaging	Het
Scn10a	T	C	9: 119,691,478	I119V	probably benign	Het
Sh3pxd2b	A	G	11: 32,415,967	T353A	probably damaging	Het
Shq1	A	T	6: 100,669,698		probably null	Het
Slc22a28	T	A	19: 8,071,858	H342L	possibly damaging	Het
Slco2b1	C	T	7: 99,664,907	E9K	probably null	Het
Specc1l	T	C	10: 75,246,284	F505L	probably damaging	Het
Sptan1	G	T	2: 29,980,203		probably null	Het
St6gal2	A	G	17: 55,490,931		probably benign	Het
Taok2	T	C	7: 126,880,141	I73V	probably benign	Het
Tax1bp1	C	T	6: 52,744,244	T478I	probably benign	Het
Tbc1d4	A	T	14: 101,507,106	N361K	probably damaging	Het
Tph1	A	T	7: 46,647,483	Y429*	probably null	Het
Tprkb	A	T	6: 85,924,421	R14W	probably damaging	Het
Trio	A	T	15: 27,753,804		probably benign	Het
Ttc23	T	C	7: 67,667,154		probably benign	Het
Vmn1r211	T	C	13: 22,852,245	Y84C	probably damaging	Het
Vmn2r22	C	G	6: 123,637,665	G322A	possibly damaging	Het
Wdr74	A	G	19: 8,740,412	Q330R	probably benign	Het
Wdtc1	C	A	4: 133,297,428	S486I	possibly damaging	Het
Zbtb24	T	C	10: 41,464,993	V673A	possibly damaging	Het
Zfpm2	A	T	15: 41,102,481	R655S	probably damaging	Het
Zkscan5	A	G	5: 145,220,988	N694D	probably benign	Het

Other mutations in Camk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
7510:Camk4	UTSW	18	33156839	missense	probably null	0.99
R0244:Camk4	UTSW	18	33179625	critical splice donor site	probably null
R0408:Camk4	UTSW	18	33129792	missense	probably damaging	1.00
R0744:Camk4	UTSW	18	32939454	missense	unknown
R0836:Camk4	UTSW	18	32939454	missense	unknown
R0903:Camk4	UTSW	18	33182330	missense	probably benign	0.08
R1449:Camk4	UTSW	18	32939475	missense	probably damaging	0.99
R1677:Camk4	UTSW	18	33176222	missense	probably damaging	1.00
R1733:Camk4	UTSW	18	33078021	missense	possibly damaging	0.54
R1909:Camk4	UTSW	18	33158816	splice site	probably null
R2186:Camk4	UTSW	18	33182341	missense	probably damaging	0.99
R2291:Camk4	UTSW	18	33107943	critical splice donor site	probably null
R3874:Camk4	UTSW	18	33158854	missense	possibly damaging	0.70
R3968:Camk4	UTSW	18	33179581	missense	possibly damaging	0.94
R3969:Camk4	UTSW	18	33179581	missense	possibly damaging	0.94
R3970:Camk4	UTSW	18	33179581	missense	possibly damaging	0.94
R4858:Camk4	UTSW	18	33176213	missense	probably damaging	0.98
R5251:Camk4	UTSW	18	33184879	missense	probably benign	0.31
R5343:Camk4	UTSW	18	33078069	missense	probably damaging	0.99
R5972:Camk4	UTSW	18	33107926	missense	probably damaging	1.00
R6155:Camk4	UTSW	18	32939447	missense	unknown
R6728:Camk4	UTSW	18	33184939	missense	probably benign
R7088:Camk4	UTSW	18	32939531	missense	probably benign	0.02
R7135:Camk4	UTSW	18	33107943	critical splice donor site	probably null
R7372:Camk4	UTSW	18	33185125	missense	probably benign	0.34
R7490:Camk4	UTSW	18	32939545	critical splice donor site	probably null
R7525:Camk4	UTSW	18	33185032	missense	probably benign	0.04
R7890:Camk4	UTSW	18	33185005	missense	probably benign	0.01
R8446:Camk4	UTSW	18	33156757	missense	probably damaging	0.99
R9038:Camk4	UTSW	18	33158900	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GAATCTTTCCCCTGGTGGTGGAAAC -3'
(R):5'- GGCAACAATCTCTATGCTTTAGGACCC -3'

Sequencing Primer
(F):5'- GGTGGAAACGCTGTTGC -3'
(R):5'- AGGACCCATATGTATCTTACTCGAC -3'

Posted On

2014-03-14