Mutagenetix > Incidental Mutation

Incidental Mutation 'R7315:Camk1d'

567856

Institutional Source

Beutler Lab

Gene Symbol

Camk1d

Ensembl Gene

ENSMUSG00000039145

Gene Name

calcium/calmodulin-dependent protein kinase ID

Synonyms

E030025C11Rik, CKLiK, A630059D12Rik, CaMKIdelta

MMRRC Submission

045368-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7315 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5298268-5719326 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5344041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 198 (Y198C)

Ref Sequence

ENSEMBL: ENSMUSP00000037028 (fasta)

Gene Model

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

AlphaFold

Q8BW96

Predicted Effect

probably damaging
Transcript: ENSMUST00000044009
AA Change: Y198C

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

SMART Domains

Protein: ENSMUSP00000037028
Gene: ENSMUSG00000039145
AA Change: Y198C

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 damaging
Transcript: ENSMUST00000114987
AA Change: Y190C

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

SMART Domains

Protein: ENSMUSP00000110638
Gene: ENSMUSG00000039145
AA Change: Y190C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	C	7: 119,893,341 (GRCm39)	I1264L	probably benign	Het
Abcg8	C	A	17: 85,004,142 (GRCm39)	D484E	probably damaging	Het
Abhd13	T	A	8: 10,037,970 (GRCm39)	L189H	probably damaging	Het
Acox2	T	C	14: 8,256,139 (GRCm38)	D60G	probably damaging	Het
Acp3	A	G	9: 104,193,423 (GRCm39)		probably null	Het
Agpat4	C	T	17: 12,429,185 (GRCm39)	R146C	probably damaging	Het
Antxrl	T	C	14: 33,793,504 (GRCm39)	S411P	unknown	Het
B4galt5	A	G	2: 167,143,296 (GRCm39)	V376A	probably damaging	Het
Cd1d1	C	T	3: 86,905,420 (GRCm39)	R191H	possibly damaging	Het
Cd93	A	G	2: 148,284,461 (GRCm39)	V295A	probably damaging	Het
Cdc27	G	A	11: 104,406,270 (GRCm39)	T615I	possibly damaging	Het
Cfap74	T	C	4: 155,547,476 (GRCm39)	Y1221H	unknown	Het
Col24a1	G	A	3: 145,137,625 (GRCm39)	S896N	possibly damaging	Het
Crppa	A	G	12: 36,440,373 (GRCm39)	T94A	probably benign	Het
Cst7	C	A	2: 150,412,503 (GRCm39)	P22Q	probably benign	Het
Dnah6	C	T	6: 73,061,743 (GRCm39)	A2781T	probably damaging	Het
Dscaml1	G	A	9: 45,656,423 (GRCm39)	A1588T	probably benign	Het
Dsg2	A	T	18: 20,712,217 (GRCm39)	I118F	probably damaging	Het
Eif1ad2	A	G	12: 87,786,473 (GRCm39)	E128G	unknown	Het
Eme2	G	A	17: 25,113,840 (GRCm39)	R62W	probably damaging	Het
Epha3	A	T	16: 63,372,972 (GRCm39)	D910E	probably benign	Het
Ext1	T	C	15: 52,936,783 (GRCm39)	D654G	probably damaging	Het
Fnip2	A	G	3: 79,413,512 (GRCm39)		probably null	Het
Gon4l	T	A	3: 88,802,486 (GRCm39)	H1032Q	probably benign	Het
Kitl	G	A	10: 99,851,974 (GRCm39)	R31H	unknown	Het
Lcp2	G	A	11: 34,019,906 (GRCm39)		probably null	Het
Lrp2	T	C	2: 69,322,166 (GRCm39)	H1921R	probably damaging	Het
Lvrn	A	G	18: 47,010,051 (GRCm39)	T400A	probably benign	Het
Mak16	G	A	8: 31,654,766 (GRCm39)	R143*	probably null	Het
Mettl23	A	G	11: 116,739,928 (GRCm39)	I159V	probably benign	Het
Mr1	T	C	1: 155,005,036 (GRCm39)	N335D	probably benign	Het
Muc2	T	C	7: 141,276,645 (GRCm39)	C12R	probably damaging	Het
Myom1	T	C	17: 71,387,892 (GRCm39)		probably null	Het
Nav2	A	G	7: 49,198,037 (GRCm39)	N33S	possibly damaging	Het
Ninl	A	G	2: 150,791,970 (GRCm39)	V851A	probably benign	Het
Nmt1	A	G	11: 102,951,009 (GRCm39)	N367D	probably benign	Het
Noc2l	T	G	4: 156,325,817 (GRCm39)	S354R	probably damaging	Het
Opn1sw	A	T	6: 29,379,362 (GRCm39)	I214N	probably damaging	Het
Or12d14-ps1	G	T	17: 37,673,551 (GRCm39)	C181F	probably damaging	Het
Or13e8	T	A	4: 43,696,961 (GRCm39)	I71F	probably damaging	Het
Or14c40	T	C	7: 86,313,445 (GRCm39)	S192P	probably damaging	Het
Or4k52	T	C	2: 111,611,004 (GRCm39)	V113A	probably damaging	Het
Or5ac16	A	G	16: 59,022,496 (GRCm39)	F98L	probably benign	Het
Or7e169	G	T	9: 19,757,131 (GRCm39)	S261R	probably damaging	Het
Or8a1	T	C	9: 37,641,872 (GRCm39)	M136V	probably benign	Het
Or8b9	A	T	9: 37,766,543 (GRCm39)	Y143F	probably benign	Het
Papss2	T	C	19: 32,616,625 (GRCm39)	V217A	possibly damaging	Het
Pes1	A	G	11: 3,926,085 (GRCm39)	I291M	probably benign	Het
Ptprb	T	A	10: 116,198,284 (GRCm39)	I1660N	possibly damaging	Het
Rapgef1	C	A	2: 29,624,504 (GRCm39)	T1030K	probably damaging	Het
Rassf8	A	G	6: 145,761,477 (GRCm39)	M268V	probably benign	Het
Rbl2	A	T	8: 91,802,640 (GRCm39)	T154S	probably damaging	Het
Rgs1	A	G	1: 144,124,637 (GRCm39)		probably null	Het
Rpgrip1	C	T	14: 52,358,458 (GRCm39)	T188I	not run	Het
Rrp1b	T	A	17: 32,277,545 (GRCm39)	F608L	probably benign	Het
Sbp	C	T	17: 24,164,280 (GRCm39)	A154V	probably benign	Het
Scara3	C	T	14: 66,168,889 (GRCm39)	E243K	probably damaging	Het
Serpinb6b	A	T	13: 33,156,240 (GRCm39)	D110V	probably benign	Het
Skic2	T	A	17: 35,060,145 (GRCm39)	D875V	probably benign	Het
Slc2a4	G	C	11: 69,837,259 (GRCm39)	T59R	probably damaging	Het
Slc4a1	A	G	11: 102,247,310 (GRCm39)	S462P	probably damaging	Het
Slc66a1	G	A	4: 139,029,181 (GRCm39)	T101M	probably damaging	Het
Snx33	C	T	9: 56,833,151 (GRCm39)	R306H	probably damaging	Het
Srf	T	C	17: 46,862,720 (GRCm39)		probably null	Het
Steap3	A	G	1: 120,155,642 (GRCm39)	V439A	probably benign	Het
Syt10	C	T	15: 89,698,541 (GRCm39)	D268N	probably damaging	Het
Tent5b	C	T	4: 133,214,395 (GRCm39)	T422I	probably damaging	Het
Terf2	T	C	8: 107,807,849 (GRCm39)	N242S	probably benign	Het
Tex15	A	G	8: 34,071,544 (GRCm39)	T2364A	probably benign	Het
Tgfbr2	A	T	9: 115,938,806 (GRCm39)	H365Q	possibly damaging	Het
Tnrc6c	T	G	11: 117,614,354 (GRCm39)	N837K	probably benign	Het
Trim67	T	A	8: 125,521,069 (GRCm39)	S144T	probably benign	Het
Zc3hav1l	T	G	6: 38,272,082 (GRCm39)	D229A	possibly damaging	Het
Zmym4	A	T	4: 126,776,385 (GRCm39)	V1184E	probably benign	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
IGL02138:Camk1d	APN	2	5,449,895 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CAGTACTGCAGAGGACAGAC -3'
(R):5'- AACCCAGGACTGTTAGCAGG -3'

Sequencing Primer
(F):5'- GTACTGCAGAGGACAGACTTCATAC -3'
(R):5'- CAAGGCTGTGAGTCTTCT -3'

Posted On

2019-06-26