Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02826:Camk1d'

361204

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Camk1d

Ensembl Gene

ENSMUSG00000039145

Gene Name

calcium/calmodulin-dependent protein kinase ID

Synonyms

E030025C11Rik, CaMKIdelta, CKLiK, A630059D12Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02826

Quality Score

Status

Chromosome

Chromosomal Location

5293457-5714515 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5565760 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 30 (V30A)

Ref Sequence

ENSEMBL: ENSMUSP00000110638 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044009] [ENSMUST00000114987]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044009
AA Change: V38A

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037028
Gene: ENSMUSG00000039145
AA Change: V38A

Domain	Start	End	E-Value	Type
S_TKc	23	279	5.87e-112	SMART
low complexity region	326	343	N/A	INTRINSIC
low complexity region	358	368	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114987
AA Change: V30A

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110638
Gene: ENSMUSG00000039145
AA Change: V30A

Domain	Start	End	E-Value	Type
S_TKc	23	271	1.35e-102	SMART
low complexity region	318	335	N/A	INTRINSIC
low complexity region	350	360	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155927

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the calcium/calmodulin-dependent protein kinase 1 family, a subfamily of the serine/threonine kinases. The encoded protein is a component of the calcium-regulated calmodulin-dependent protein kinase cascade. It has been associated with multiple processes including regulation of granulocyte function, activation of CREB-dependent gene transcription, aldosterone synthesis, differentiation and activation of neutrophil cells, and apoptosis of erythroleukemia cells. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jan 2015]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	A	C	16: 90,926,062	D261E	probably benign	Het
1810041L15Rik	A	G	15: 84,420,129		probably benign	Het
4930404N11Rik	A	G	10: 81,364,736		probably benign	Het
A3galt2	T	C	4: 128,761,509		probably benign	Het
Alk	C	T	17: 71,869,536	G1591D	probably damaging	Het
Angptl2	T	C	2: 33,228,315	S34P	probably benign	Het
Atp2a2	A	G	5: 122,489,291	V137A	probably benign	Het
Atp8b5	A	G	4: 43,366,770	M845V	probably damaging	Het
Ceacam19	G	A	7: 19,882,610	T193I	probably benign	Het
Chst15	T	A	7: 132,266,746	D315V	probably damaging	Het
Cux1	G	T	5: 136,308,003	P885Q	probably damaging	Het
Cyth1	C	T	11: 118,185,481	E88K	possibly damaging	Het
Dido1	A	G	2: 180,683,958	V479A	probably benign	Het
Dlc1	G	T	8: 36,570,275		probably benign	Het
H2-Ab1	G	A	17: 34,264,911	R82Q	probably damaging	Het
Hps6	T	A	19: 46,006,041	*806K	probably null	Het
Ilf3	T	C	9: 21,398,044	S486P	probably benign	Het
Kdm1b	C	A	13: 47,080,467	T759K	probably damaging	Het
Kirrel	C	A	3: 87,088,485	V381F	probably damaging	Het
Kmt2b	A	T	7: 30,577,144	V1701E	probably damaging	Het
Lrmda	T	C	14: 22,828,737	Y100H	probably damaging	Het
Mastl	T	C	2: 23,145,409	I169V	probably damaging	Het
Mroh2b	A	G	15: 4,962,148	E1576G	probably damaging	Het
Nek3	A	T	8: 22,160,368		probably null	Het
Nipal3	G	T	4: 135,468,550	Y247*	probably null	Het
Nt5e	A	C	9: 88,355,705	K229N	probably damaging	Het
Olfr237-ps1	A	G	6: 43,153,577	I91V	possibly damaging	Het
Olfr974	G	T	9: 39,942,958	G233C	probably damaging	Het
Opa1	A	G	16: 29,610,887	M290V	probably null	Het
Parp2	T	A	14: 50,815,415	I155K	probably benign	Het
Pde4dip	G	T	3: 97,767,087	A171E	probably damaging	Het
Prom2	C	T	2: 127,531,116	E678K	probably benign	Het
Rab12	A	G	17: 66,498,116		probably benign	Het
Rgs8	A	T	1: 153,670,799	T13S	probably damaging	Het
Setd3	A	G	12: 108,112,124		probably benign	Het
Slx4ip	G	A	2: 137,004,973	V53I	probably damaging	Het
Stil	A	G	4: 115,024,098	D613G	probably benign	Het
Tjp3	T	A	10: 81,273,689	S858C	probably damaging	Het
Tmem215	A	G	4: 40,474,632	*236W	probably null	Het
Ttbk1	A	G	17: 46,470,660	V389A	probably benign	Het
Wdfy4	A	G	14: 32,971,750	F2706S	possibly damaging	Het
Xpo4	C	A	14: 57,629,420	V222L	possibly damaging	Het
Zfc3h1	A	G	10: 115,400,904	S428G	probably benign	Het
Zfp286	T	C	11: 62,787,960	Q47R	probably damaging	Het
Zfp318	A	G	17: 46,398,754	K468E	probably damaging	Het

Other mutations in Camk1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00827:Camk1d	APN	2	5311073	splice site	probably benign
IGL02138:Camk1d	APN	2	5445084	nonsense	probably null
IGL02999:Camk1d	APN	2	5354705	missense	probably benign	0.44
R0432:Camk1d	UTSW	2	5445135	missense	probably damaging	1.00
R1180:Camk1d	UTSW	2	5362025	nonsense	probably null
R1448:Camk1d	UTSW	2	5362025	nonsense	probably null
R1628:Camk1d	UTSW	2	5311037	missense	probably damaging	0.99
R1850:Camk1d	UTSW	2	5362015	missense	probably benign	0.08
R1998:Camk1d	UTSW	2	5362025	nonsense	probably null
R2000:Camk1d	UTSW	2	5362025	nonsense	probably null
R2513:Camk1d	UTSW	2	5714236	start codon destroyed	probably null	0.15
R4065:Camk1d	UTSW	2	5565773	missense	probably damaging	1.00
R4201:Camk1d	UTSW	2	5354776	missense	probably benign	0.03
R4581:Camk1d	UTSW	2	5354704	missense	probably benign	0.21
R4760:Camk1d	UTSW	2	5362056	missense	probably damaging	1.00
R4894:Camk1d	UTSW	2	5354728	missense	probably damaging	1.00
R5001:Camk1d	UTSW	2	5313101	missense	possibly damaging	0.50
R5394:Camk1d	UTSW	2	5303366	missense	probably benign	0.10
R5754:Camk1d	UTSW	2	5445097	missense	probably benign	0.10
R5754:Camk1d	UTSW	2	5445099	missense	probably damaging	1.00
R5877:Camk1d	UTSW	2	5565665	missense	probably benign	0.00
R6444:Camk1d	UTSW	2	5313145	missense	probably damaging	1.00
R7315:Camk1d	UTSW	2	5339230	missense	probably damaging	1.00

Posted On

2015-12-18