Mutagenetix > Incidental Mutation

Incidental Mutation 'R7525:Camk4'

582950

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

Accession Numbers

Genbank: NM_009793; MGI: 88258

Essential gene?

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

Stock #

R7525 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32939041-33195767 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33185032 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 414 (V414A)

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
AA Change: V414A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000046539
Gene: ENSMUSG00000038128
AA Change: V414A

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

Validation Efficiency

100% (63/63)

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
2900026A02Rik	T	C	5: 113,183,355	T998A	probably damaging	Het
AI314180	A	G	4: 58,847,038	I508T	possibly damaging	Het
Akap9	C	G	5: 3,968,745	H1109D	probably benign	Het
Akt3	T	A	1: 177,020,107	K465*	probably null	Het
Ankar	T	C	1: 72,688,641	D371G	probably benign	Het
Ankib1	T	G	5: 3,755,734	N178H	possibly damaging	Het
Arhgap10	A	G	8: 77,420,070		probably null	Het
Arhgef4	A	G	1: 34,809,704	D286G	probably damaging	Het
Bsdc1	A	T	4: 129,461,684		probably benign	Het
Cyp2d9	T	A	15: 82,454,092	V139E	possibly damaging	Het
Dhrs13	C	A	11: 78,032,434	N21K	unknown	Het
Dopey1	C	T	9: 86,506,290	A439V	probably damaging	Het
Dpy19l4	G	A	4: 11,317,160	Q13*	probably null	Het
Eif2ak1	T	C	5: 143,886,898	S388P	probably damaging	Het
Emilin2	T	C	17: 71,274,979	S251G	probably benign	Het
Eml4	T	A	17: 83,445,950	L350Q	probably damaging	Het
Fblim1	A	T	4: 141,590,080	L98H	probably damaging	Het
Fcrl6	T	A	1: 172,597,672	N264I	probably benign	Het
Gm13124	A	G	4: 144,565,010	F42S	probably damaging	Het
Gzme	A	C	14: 56,119,333	D57E	probably benign	Het
H2-D1	A	G	17: 35,265,933	T257A	probably damaging	Het
Hectd4	C	A	5: 121,343,665	D3092E	possibly damaging	Het
Hrc	A	G	7: 45,336,379	E318G	probably benign	Het
Hspbp1	A	G	7: 4,663,436	L315P	probably damaging	Het
Insr	A	T	8: 3,192,642	Y591N	probably damaging	Het
Lrch4	T	A	5: 137,639,465	I582N	probably damaging	Het
Lrit2	A	G	14: 37,072,493	K505E	possibly damaging	Het
Lrp1b	A	T	2: 40,657,416	N4251K		Het
Mfsd13a	T	C	19: 46,369,277	F290S	probably damaging	Het
Mgam	T	G	6: 40,766,020	N1791K	probably benign	Het
Mroh7	A	T	4: 106,709,702	I450N	probably benign	Het
Mylk	G	A	16: 34,988,987	M1771I	probably benign	Het
Olfr1335	A	T	4: 118,809,494	F123L	probably damaging	Het
Olfr26	A	T	9: 38,855,238	M59L	possibly damaging	Het
Olfr612	A	T	7: 103,539,131	C34*	probably null	Het
Olfr972	T	A	9: 39,874,139	L288*	probably null	Het
Parp14	A	T	16: 35,857,491	H702Q	probably benign	Het
Pcdhga1	T	C	18: 37,662,228	L95P	probably damaging	Het
Pcsk5	T	C	19: 17,642,590	T373A	probably damaging	Het
Pdzph1	A	G	17: 58,967,341	V836A	possibly damaging	Het
Pgap1	T	A	1: 54,530,922	N322I	probably benign	Het
Pikfyve	C	T	1: 65,244,426	R741*	probably null	Het
Pip4k2c	A	G	10: 127,208,904	S80P	probably damaging	Het
Plekhh3	A	G	11: 101,166,619	F271L	probably damaging	Het
Prkdc	A	T	16: 15,672,327	Y565F	probably damaging	Het
Prom2	T	C	2: 127,532,781	R612G	probably benign	Het
Psap	T	C	10: 60,299,474	V303A	probably benign	Het
Ptch1	C	T	13: 63,511,714	R1375H	probably benign	Het
Slc24a3	A	C	2: 145,613,530	K446N	probably benign	Het
Slc39a12	T	A	2: 14,494,461	M661K	probably benign	Het
Slc6a16	T	C	7: 45,259,113	L39P	probably benign	Het
Syne1	T	G	10: 5,185,559		probably null	Het
Taar8c	T	C	10: 24,101,866	N16S	probably benign	Het
Tmem98	A	G	11: 80,817,518	T105A	probably damaging	Het
Tmub1	T	A	5: 24,446,013	Y216F	probably damaging	Het
Trim16	T	G	11: 62,820,754	C84G	probably damaging	Het
Ttn	T	A	2: 76,731,229	K28978*	probably null	Het
Usp38	A	G	8: 81,014,246	V64A	probably damaging	Het
Vmn2r63	A	T	7: 42,926,982	F469Y	possibly damaging	Het
Vmn2r74	A	G	7: 85,961,302	W61R	probably benign	Het
Whamm	G	T	7: 81,593,850	G607C	probably damaging	Het
Xkr6	G	T	14: 63,819,161	V430F	probably benign	Het
Zfp398	A	G	6: 47,865,818	D268G	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
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
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'- AATTGGCAATTTCCCCTGGG -3'
(R):5'- AGCCAGCTTAGTACTCTGGC -3'

Sequencing Primer
(F):5'- TCTCTCCAATCAGGCAGCG -3'
(R):5'- CAGCTTAGTACTCTGGCTGAATCG -3'

Posted On

2019-10-17