Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02138:Camk1d'

281406

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Camk1d

Ensembl Gene

ENSMUSG00000039145

Gene Name

calcium/calmodulin-dependent protein kinase ID

Synonyms

E030025C11Rik, CKLiK, A630059D12Rik, CaMKIdelta

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02138

Quality Score

Status

Chromosome

Chromosomal Location

5298268-5719326 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 5449895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 87 (Y87*)

Ref Sequence

ENSEMBL: ENSMUSP00000110638 (fasta)

Gene Model

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

AlphaFold

Q8BW96

Predicted Effect

probably null
Transcript: ENSMUST00000044009
AA Change: Y95*

SMART Domains

Protein: ENSMUSP00000037028
Gene: ENSMUSG00000039145
AA Change: Y95*

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

probably null
Transcript: ENSMUST00000114987
AA Change: Y87*

SMART Domains

Protein: ENSMUSP00000110638
Gene: ENSMUSG00000039145
AA Change: Y87*

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

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	G	14: 32,384,672 (GRCm39)	D431A	possibly damaging	Het
Adgrb1	T	C	15: 74,401,631 (GRCm39)	M209T	probably damaging	Het
Ano8	T	C	8: 71,937,486 (GRCm39)	H86R	probably damaging	Het
Capza3	A	G	6: 139,987,872 (GRCm39)	D157G	probably benign	Het
Ckmt2	A	T	13: 92,009,947 (GRCm39)	D124E	probably benign	Het
Col14a1	C	A	15: 55,284,231 (GRCm39)	Q831K	unknown	Het
Copb2	C	T	9: 98,469,605 (GRCm39)	P829S	probably benign	Het
Dlg5	A	G	14: 24,208,419 (GRCm39)	V929A	probably benign	Het
Dolk	A	G	2: 30,175,991 (GRCm39)	V18A	probably benign	Het
Ecm2	G	T	13: 49,676,304 (GRCm39)	L340F	probably damaging	Het
Hacl1	A	G	14: 31,352,940 (GRCm39)	L149P	probably benign	Het
Higd2a	A	T	13: 54,738,235 (GRCm39)		probably null	Het
Hspa12a	A	T	19: 58,816,730 (GRCm39)	S28R	probably benign	Het
Igkv5-37	A	G	6: 69,940,435 (GRCm39)	Y70H	probably damaging	Het
Iho1	G	A	9: 108,283,820 (GRCm39)	T208I	probably benign	Het
Kif11	T	C	19: 37,373,057 (GRCm39)	V92A	probably damaging	Het
Kif26a	T	C	12: 112,141,284 (GRCm39)	S696P	probably damaging	Het
Kng1	A	T	16: 22,886,558 (GRCm39)	N168Y	probably damaging	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Lepr	A	G	4: 101,625,264 (GRCm39)	D473G	probably damaging	Het
Lipt1	G	A	1: 37,914,867 (GRCm39)	E308K	possibly damaging	Het
Luc7l3	A	T	11: 94,194,792 (GRCm39)	F76Y	probably benign	Het
Mapk1	A	G	16: 16,841,316 (GRCm39)	I163V	probably benign	Het
Matn3	A	G	12: 9,017,638 (GRCm39)	E430G	possibly damaging	Het
Med13	A	T	11: 86,177,591 (GRCm39)	S1502T	probably damaging	Het
Mlf1	A	T	3: 67,307,046 (GRCm39)	H237L	probably benign	Het
Mss51	A	C	14: 20,534,923 (GRCm39)	Y282*	probably null	Het
Ncoa3	A	G	2: 165,897,182 (GRCm39)	T658A	probably benign	Het
Or1p1c	A	T	11: 74,160,544 (GRCm39)	M110L	probably benign	Het
Or7d11	A	T	9: 19,966,196 (GRCm39)	S188T	probably benign	Het
Phrf1	T	A	7: 140,839,196 (GRCm39)		probably benign	Het
Ppme1	C	T	7: 99,983,139 (GRCm39)	M335I	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Sntg2	T	A	12: 30,357,230 (GRCm39)		probably null	Het
Spryd3	T	C	15: 102,027,354 (GRCm39)		probably benign	Het
Srpx	A	G	X: 9,933,662 (GRCm39)		probably null	Het
St8sia1	G	T	6: 142,909,504 (GRCm39)		probably benign	Het
Stab1	A	G	14: 30,865,470 (GRCm39)		probably null	Het
Sycp2	A	T	2: 178,000,047 (GRCm39)	S976R	probably benign	Het
Sycp2	T	A	2: 178,043,783 (GRCm39)	K108*	probably null	Het
Tagap1	T	C	17: 7,223,485 (GRCm39)	T404A	probably damaging	Het
Tg	C	T	15: 66,589,082 (GRCm39)	T21I	probably benign	Het
Tlr4	A	T	4: 66,759,202 (GRCm39)	Y665F	probably damaging	Het
Tmc8	T	G	11: 117,682,081 (GRCm39)	S525A	probably benign	Het
Tor4a	A	T	2: 25,084,810 (GRCm39)	D364E	probably benign	Het
Trim44	T	C	2: 102,211,253 (GRCm39)	I236V	probably benign	Het
Ube2o	A	G	11: 116,434,226 (GRCm39)		probably benign	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Xirp2	A	T	2: 67,347,300 (GRCm39)	R3180S	probably benign	Het
Zfp335	A	G	2: 164,735,724 (GRCm39)	C1077R	probably damaging	Het

Other mutations in Camk1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00827:Camk1d	APN	2	5,315,884 (GRCm39)	splice site	probably benign
IGL02826:Camk1d	APN	2	5,570,571 (GRCm39)	missense	possibly damaging	0.56
IGL02999:Camk1d	APN	2	5,359,516 (GRCm39)	missense	probably benign	0.44
R0432:Camk1d	UTSW	2	5,449,946 (GRCm39)	missense	probably damaging	1.00
R1180:Camk1d	UTSW	2	5,366,836 (GRCm39)	nonsense	probably null
R1448:Camk1d	UTSW	2	5,366,836 (GRCm39)	nonsense	probably null
R1628:Camk1d	UTSW	2	5,315,848 (GRCm39)	missense	probably damaging	0.99
R1850:Camk1d	UTSW	2	5,366,826 (GRCm39)	missense	probably benign	0.08
R1998:Camk1d	UTSW	2	5,366,836 (GRCm39)	nonsense	probably null
R2000:Camk1d	UTSW	2	5,366,836 (GRCm39)	nonsense	probably null
R2513:Camk1d	UTSW	2	5,719,047 (GRCm39)	start codon destroyed	probably null	0.15
R4065:Camk1d	UTSW	2	5,570,584 (GRCm39)	missense	probably damaging	1.00
R4201:Camk1d	UTSW	2	5,359,587 (GRCm39)	missense	probably benign	0.03
R4581:Camk1d	UTSW	2	5,359,515 (GRCm39)	missense	probably benign	0.21
R4760:Camk1d	UTSW	2	5,366,867 (GRCm39)	missense	probably damaging	1.00
R4894:Camk1d	UTSW	2	5,359,539 (GRCm39)	missense	probably damaging	1.00
R5001:Camk1d	UTSW	2	5,317,912 (GRCm39)	missense	possibly damaging	0.50
R5394:Camk1d	UTSW	2	5,308,177 (GRCm39)	missense	probably benign	0.10
R5754:Camk1d	UTSW	2	5,449,910 (GRCm39)	missense	probably damaging	1.00
R5754:Camk1d	UTSW	2	5,449,908 (GRCm39)	missense	probably benign	0.10
R5877:Camk1d	UTSW	2	5,570,476 (GRCm39)	missense	probably benign	0.00
R6444:Camk1d	UTSW	2	5,317,956 (GRCm39)	missense	probably damaging	1.00
R7315:Camk1d	UTSW	2	5,344,041 (GRCm39)	missense	probably damaging	1.00
R9177:Camk1d	UTSW	2	5,303,901 (GRCm39)	missense	probably benign	0.21
R9268:Camk1d	UTSW	2	5,303,901 (GRCm39)	missense	probably benign	0.21
R9329:Camk1d	UTSW	2	5,449,954 (GRCm39)	missense	probably benign
R9433:Camk1d	UTSW	2	5,680,777 (GRCm39)	missense	unknown

Posted On

2015-04-16