Mutagenetix > Incidental Mutation

Incidental Mutation 'R0744:Camk4'

70897

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

038925-MU

Accession Numbers

Genbank: NM_009793; MGI: 88258

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R0744 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32939041-33195767 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 32939454 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 20 (S20I)

Ref Sequence

ENSEMBL: ENSMUSP00000046539 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000042868
AA Change: S20I

SMART Domains

Protein: ENSMUSP00000046539
Gene: ENSMUSG00000038128
AA Change: S20I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180941

Meta Mutation Damage Score

0.1176

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

98% (91/93)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,165,069	L41P	probably damaging	Het
A930003A15Rik	T	C	16: 19,883,872		noncoding transcript	Het
Abca8a	A	T	11: 110,040,564	D1253E	possibly damaging	Het
Acsm3	T	C	7: 119,777,100	I350T	possibly damaging	Het
Adcy9	T	C	16: 4,419,271	D92G	possibly damaging	Het
Aebp2	T	G	6: 140,642,364		probably null	Het
AI987944	T	C	7: 41,376,859	Y6C	probably damaging	Het
Ascc3	T	C	10: 50,845,666	W2072R	probably benign	Het
Asxl3	A	G	18: 22,516,040	D362G	probably damaging	Het
Baiap2l1	T	A	5: 144,266,641	D479V	probably benign	Het
Bdp1	A	T	13: 100,035,825	H2094Q	probably benign	Het
Bptf	C	A	11: 107,110,812		probably null	Het
Ccdc36	A	T	9: 108,404,801	C563S	probably benign	Het
Ccdc85a	T	A	11: 28,583,296	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,802,394	M336K	probably benign	Het
Cd209e	G	T	8: 3,853,205	D62E	probably benign	Het
Cd226	A	C	18: 89,207,020		probably benign	Het
Clip1	T	C	5: 123,630,721	D605G	probably benign	Het
Crtc1	A	G	8: 70,393,013	V306A	probably benign	Het
D130043K22Rik	G	A	13: 24,863,580		probably benign	Het
Dmxl1	T	C	18: 49,833,148	V20A	probably damaging	Het
Dzip3	A	G	16: 48,959,675	Y301H	probably damaging	Het
Ephb4	T	A	5: 137,365,667	N600K	probably damaging	Het
Erich6	T	A	3: 58,636,122		probably benign	Het
Fbn1	T	C	2: 125,314,814		probably benign	Het
Fryl	A	T	5: 73,089,081		probably benign	Het
Galnt17	T	A	5: 131,150,916	D131V	probably damaging	Het
Gm13089	A	T	4: 143,698,486	M129K	probably benign	Het
Gm597	A	G	1: 28,777,821	S377P	possibly damaging	Het
Gm6619	T	A	6: 131,490,334	L54Q	probably damaging	Het
Herc2	T	C	7: 56,206,036		probably benign	Het
Hic1	T	A	11: 75,165,801	Q754L	possibly damaging	Het
Hnf4g	A	T	3: 3,651,629	D286V	possibly damaging	Het
Itgb5	A	G	16: 33,900,583	K339R	probably damaging	Het
Itih1	A	T	14: 30,941,555	V164E	probably damaging	Het
Jak3	A	C	8: 71,683,978	N643T	probably damaging	Het
Lamp1	T	A	8: 13,172,654	F279L	probably damaging	Het
Lrfn5	A	C	12: 61,839,668	T81P	probably damaging	Het
Lrrc58	A	G	16: 37,878,573		probably benign	Het
March6	T	C	15: 31,480,291	Y562C	probably benign	Het
Mark1	T	A	1: 184,921,608	I166F	probably damaging	Het
Mark2	A	G	19: 7,285,824	Y193H	probably damaging	Het
Mast4	C	G	13: 102,737,387	Q1632H	probably damaging	Het
Mcrs1	T	C	15: 99,243,449		probably benign	Het
Mgst3	A	G	1: 167,373,805	Y104H	probably damaging	Het
Mlxipl	C	T	5: 135,132,475	T416I	possibly damaging	Het
Mthfd2l	T	C	5: 90,946,942	V90A	probably damaging	Het
Mtnr1a	A	T	8: 45,087,937	I312F	probably benign	Het
Muc1	C	A	3: 89,230,328	P159Q	possibly damaging	Het
Myom2	A	T	8: 15,132,924	K1454*	probably null	Het
Myt1	TGAGGAGGAGGAGGAGGAGG	TGAGGAGGAGGAGGAGG	2: 181,797,505		probably benign	Het
Olfr1513	T	C	14: 52,349,378	I223V	probably benign	Het
Olfr329-ps	T	A	11: 58,543,162	M105L	possibly damaging	Het
Olfr504	T	C	7: 108,564,998	T266A	possibly damaging	Het
Olfr629	T	C	7: 103,740,925	H105R	probably damaging	Het
Olfr905	A	T	9: 38,472,785	I13F	probably benign	Het
Pdcd6	A	G	13: 74,316,324		probably benign	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Pzp	A	G	6: 128,516,195		probably benign	Het
Rab27b	T	C	18: 69,987,041		probably benign	Het
Rapgef3	G	A	15: 97,761,585		probably benign	Het
Rapsn	T	C	2: 91,036,808	Y152H	probably damaging	Het
Rgs11	T	A	17: 26,203,318	M29K	probably damaging	Het
Rictor	A	G	15: 6,764,278		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rims1	T	C	1: 22,427,459		probably null	Het
Samd9l	T	C	6: 3,372,725	E1512G	possibly damaging	Het
Sgsm1	C	T	5: 113,279,184	A127T	probably benign	Het
Slc22a28	T	C	19: 8,116,833	Y245C	possibly damaging	Het
Slc25a1	T	A	16: 17,927,436	H78L	probably benign	Het
Slc26a1	T	A	5: 108,673,523	T167S	probably benign	Het
Slc2a12	T	C	10: 22,702,016		probably benign	Het
Slc44a5	T	C	3: 154,265,474	S654P	probably damaging	Het
Slc51a	T	A	16: 32,475,849	T306S	probably benign	Het
Slc6a13	T	G	6: 121,302,867	W67G	probably damaging	Het
Sowahc	GGGAGGAGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGAGGAGGA	10: 59,223,491		probably benign	Het
Sp100	A	T	1: 85,699,744	I86L	probably damaging	Het
Supt20	T	A	3: 54,714,701	Y409N	probably damaging	Het
Synrg	C	T	11: 84,024,305	Q1046*	probably null	Het
Tab2	T	C	10: 7,907,581		probably benign	Het
Tcof1	T	C	18: 60,845,832	D48G	probably damaging	Het
Tex24	A	T	8: 27,344,720	H92L	possibly damaging	Het
Tgm6	T	C	2: 130,151,761	V640A	probably benign	Het
Tle2	T	C	10: 81,588,947	F667L	probably damaging	Het
Tnfaip3	C	A	10: 19,002,949	A704S	probably benign	Het
Tomm34	T	C	2: 164,070,976	N22D	probably benign	Het
Trabd2b	A	G	4: 114,580,322	Q232R	probably benign	Het
Trim62	A	G	4: 128,884,215	S16G	probably damaging	Het
Ttc28	T	A	5: 111,231,081	I1144N	probably damaging	Het
Unc5a	C	A	13: 55,003,933	N56K	possibly damaging	Het
Ush2a	C	T	1: 188,814,406		probably benign	Het
Wrn	A	G	8: 33,295,006	I446T	possibly damaging	Het
Zbed5	T	A	5: 129,902,272	V354E	possibly damaging	Het
Zfp266	G	A	9: 20,499,799	H361Y	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
R0408:Camk4	UTSW	18	33129792	missense	probably damaging	1.00
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
R9038:Camk4	UTSW	18	33158900	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTAGTGGCTTCCCCAGGCAAATG -3'
(R):5'- GTGTCGCAGCTAGAGGGACAAC -3'

Sequencing Primer
(F):5'- ggaagggagagcacaggg -3'
(R):5'- CTAGAGGGACAACTAGCGTG -3'

Posted On

2013-09-30