Mutagenetix > Incidental Mutations

Incidental Mutation 'R0408:Camk4'

40136

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

038610-MU

Accession Numbers

Genbank: NM_009793; MGI: 88258

Is this an essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R0408 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32939041-33195767 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33129792 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 136 (D136N)

Ref Sequence

ENSEMBL: ENSMUSP00000046539 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000042868
AA Change: D136N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046539
Gene: ENSMUSG00000038128
AA Change: D136N

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,853,446	N1032K	probably damaging	Het
Abcc8	A	G	7: 46,107,033	I1416T	probably damaging	Het
Aco2	T	C	15: 81,913,118		probably null	Het
Akap13	C	T	7: 75,746,796	L2514F	probably damaging	Het
Aldh1a3	A	G	7: 66,406,050	V331A	probably damaging	Het
Arid3a	T	A	10: 79,950,833	D473E	probably benign	Het
Atg9a	A	G	1: 75,185,295	S536P	probably damaging	Het
Atxn7	A	T	14: 14,100,317	S668C	probably damaging	Het
Bcar3	A	T	3: 122,508,384	I243F	probably damaging	Het
Bend6	G	A	1: 33,862,753	P183S	probably damaging	Het
Bfsp2	A	T	9: 103,480,100	S43T	probably benign	Het
Ceacam3	G	T	7: 17,151,883		probably benign	Het
Chrm3	T	C	13: 9,877,933	I356V	probably benign	Het
Clec9a	T	A	6: 129,419,569	I133N	possibly damaging	Het
Ctnnd2	T	C	15: 30,634,677	L157P	probably damaging	Het
Ddhd2	T	C	8: 25,739,587		probably null	Het
Def8	T	C	8: 123,459,917	V436A	probably damaging	Het
Dock10	T	C	1: 80,540,476	K1293R	probably benign	Het
Dync1h1	T	G	12: 110,631,692	D1772E	probably benign	Het
Ephx4	G	T	5: 107,413,521	G72C	probably damaging	Het
Fam136a	T	G	6: 86,366,725	V68G	possibly damaging	Het
Fam69c	T	A	18: 84,720,363		probably null	Het
Fcgrt	T	C	7: 45,101,939	E195G	probably damaging	Het
Fut9	T	A	4: 25,620,319	Q165L	possibly damaging	Het
Glb1l	T	C	1: 75,208,835	Y77C	probably damaging	Het
Gm16286	T	C	18: 80,211,814	S108P	probably damaging	Het
Gpr26	T	C	7: 131,967,520	V198A	possibly damaging	Het
Gpr26	C	A	7: 131,974,272		probably null	Het
Gsdma3	A	C	11: 98,635,338	E296A	probably benign	Het
Hyou1	G	T	9: 44,384,692	G385W	probably damaging	Het
Il17rb	T	C	14: 29,996,680	S482G	probably benign	Het
Itgb4	A	T	11: 116,007,602	R1715W	probably damaging	Het
Jak2	A	G	19: 29,286,317	S411G	probably benign	Het
Kdm3a	C	T	6: 71,611,679	D449N	probably benign	Het
Kif1bp	T	C	10: 62,566,053	I23M	probably benign	Het
Klhl26	T	C	8: 70,452,480	D226G	probably damaging	Het
Klra1	T	A	6: 130,377,774	I94F	probably benign	Het
Lama3	A	G	18: 12,456,837	D808G	probably benign	Het
Lrp1b	C	T	2: 40,677,591	M272I	probably damaging	Het
Masp2	A	G	4: 148,606,039	D251G	probably benign	Het
Mob3b	T	C	4: 35,083,991	D66G	probably damaging	Het
Myo7a	T	C	7: 98,056,781	Q1863R	probably damaging	Het
Olfr119	G	A	17: 37,701,299	V210I	probably benign	Het
Olfr1195	A	T	2: 88,683,655	F26I	probably benign	Het
Pdgfd	T	A	9: 6,293,928	Y167*	probably null	Het
Pfas	A	G	11: 69,001,105		probably null	Het
Plin1	T	A	7: 79,722,646	T393S	probably damaging	Het
Prdm15	A	T	16: 97,835,786	N110K	possibly damaging	Het
Prune2	T	A	19: 17,122,310	V1726D	probably benign	Het
Sestd1	T	A	2: 77,191,793	D518V	probably damaging	Het
Setd2	C	T	9: 110,594,242	P344S	probably damaging	Het
Slc22a1	A	T	17: 12,656,941	I462N	probably damaging	Het
Slc6a1	G	A	6: 114,302,800	V142I	probably benign	Het
Tbc1d14	G	T	5: 36,571,299	T241K	possibly damaging	Het
Uaca	T	C	9: 60,871,859	L1176P	possibly damaging	Het
Ube2g1	G	C	11: 72,672,965	G52A	probably damaging	Het
Utrn	A	G	10: 12,384,190	*957R	probably null	Het
Vmn2r125	A	T	4: 156,350,858	E177V	probably damaging	Het
Vmn2r86	A	G	10: 130,446,854	F631S	probably damaging	Het
Zc3h13	T	A	14: 75,292,186	C42*	probably null	Het
Zc3h14	T	G	12: 98,763,823	V13G	probably damaging	Het
Zfat	A	T	15: 68,180,292	V551D	probably benign	Het
Zfp618	C	T	4: 63,086,572	R70W	probably damaging	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
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
R1456:Camk4	UTSW	18	33129843	splice site	probably benign
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

Predicted Primers

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

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

Posted On

2013-05-23