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, CaMKIdelta, CKLiK, A630059D12Rik

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

5293457-5714515 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5339230 bp (GRCm38)

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: 120,294,118 (GRCm38)	I1264L	probably benign	Het
Abcg8	C	A	17: 84,696,714 (GRCm38)	D484E	probably damaging	Het
Abhd13	T	A	8: 9,987,970 (GRCm38)	L189H	probably damaging	Het
Acox2	T	C	14: 8,256,139 (GRCm38)	D60G	probably damaging	Het
Acpp	A	G	9: 104,316,224 (GRCm38)		probably null	Het
Agpat4	C	T	17: 12,210,298 (GRCm38)	R146C	probably damaging	Het
Antxrl	T	C	14: 34,071,547 (GRCm38)	S411P	unknown	Het
B4galt5	A	G	2: 167,301,376 (GRCm38)	V376A	probably damaging	Het
BB287469	A	G	12: 87,819,703 (GRCm38)	E128G	unknown	Het
Cd1d1	C	T	3: 86,998,113 (GRCm38)	R191H	possibly damaging	Het
Cd93	A	G	2: 148,442,541 (GRCm38)	V295A	probably damaging	Het
Cdc27	G	A	11: 104,515,444 (GRCm38)	T615I	possibly damaging	Het
Cfap74	T	C	4: 155,463,019 (GRCm38)	Y1221H	unknown	Het
Col24a1	G	A	3: 145,431,870 (GRCm38)	S896N	possibly damaging	Het
Cst7	C	A	2: 150,570,583 (GRCm38)	P22Q	probably benign	Het
Dnah6	C	T	6: 73,084,760 (GRCm38)	A2781T	probably damaging	Het
Dscaml1	G	A	9: 45,745,125 (GRCm38)	A1588T	probably benign	Het
Dsg2	A	T	18: 20,579,160 (GRCm38)	I118F	probably damaging	Het
Eme2	G	A	17: 24,894,866 (GRCm38)	R62W	probably damaging	Het
Epha3	A	T	16: 63,552,609 (GRCm38)	D910E	probably benign	Het
Ext1	T	C	15: 53,073,387 (GRCm38)	D654G	probably damaging	Het
Fam46b	C	T	4: 133,487,084 (GRCm38)	T422I	probably damaging	Het
Fnip2	A	G	3: 79,506,205 (GRCm38)		probably null	Het
Gon4l	T	A	3: 88,895,179 (GRCm38)	H1032Q	probably benign	Het
Ispd	A	G	12: 36,390,374 (GRCm38)	T94A	probably benign	Het
Kitl	G	A	10: 100,016,112 (GRCm38)	R31H	unknown	Het
Lcp2	G	A	11: 34,069,906 (GRCm38)		probably null	Het
Lrp2	T	C	2: 69,491,822 (GRCm38)	H1921R	probably damaging	Het
Lvrn	A	G	18: 46,876,984 (GRCm38)	T400A	probably benign	Het
Mak16	G	A	8: 31,164,738 (GRCm38)	R143*	probably null	Het
Mettl23	A	G	11: 116,849,102 (GRCm38)	I159V	probably benign	Het
Mr1	T	C	1: 155,129,290 (GRCm38)	N335D	probably benign	Het
Muc2	T	C	7: 141,690,402 (GRCm38)	C12R	probably damaging	Het
Myom1	T	C	17: 71,080,897 (GRCm38)		probably null	Het
Nav2	A	G	7: 49,548,289 (GRCm38)	N33S	possibly damaging	Het
Ninl	A	G	2: 150,950,050 (GRCm38)	V851A	probably benign	Het
Nmt1	A	G	11: 103,060,183 (GRCm38)	N367D	probably benign	Het
Noc2l	T	G	4: 156,241,360 (GRCm38)	S354R	probably damaging	Het
Olfr104-ps	G	T	17: 37,362,660 (GRCm38)	C181F	probably damaging	Het
Olfr1302	T	C	2: 111,780,659 (GRCm38)	V113A	probably damaging	Het
Olfr151	T	C	9: 37,730,576 (GRCm38)	M136V	probably benign	Het
Olfr198	A	G	16: 59,202,133 (GRCm38)	F98L	probably benign	Het
Olfr293	T	C	7: 86,664,237 (GRCm38)	S192P	probably damaging	Het
Olfr70	T	A	4: 43,696,961 (GRCm38)	I71F	probably damaging	Het
Olfr860	G	T	9: 19,845,835 (GRCm38)	S261R	probably damaging	Het
Olfr877	A	T	9: 37,855,247 (GRCm38)	Y143F	probably benign	Het
Opn1sw	A	T	6: 29,379,363 (GRCm38)	I214N	probably damaging	Het
Papss2	T	C	19: 32,639,225 (GRCm38)	V217A	possibly damaging	Het
Pes1	A	G	11: 3,976,085 (GRCm38)	I291M	probably benign	Het
Pqlc2	G	A	4: 139,301,870 (GRCm38)	T101M	probably damaging	Het
Ptprb	T	A	10: 116,362,379 (GRCm38)	I1660N	possibly damaging	Het
Rapgef1	C	A	2: 29,734,492 (GRCm38)	T1030K	probably damaging	Het
Rassf8	A	G	6: 145,815,751 (GRCm38)	M268V	probably benign	Het
Rbl2	A	T	8: 91,076,012 (GRCm38)	T154S	probably damaging	Het
Rgs1	A	G	1: 144,248,899 (GRCm38)		probably null	Het
Rpgrip1	C	T	14: 52,121,001 (GRCm38)	T188I	not run	Het
Rrp1b	T	A	17: 32,058,571 (GRCm38)	F608L	probably benign	Het
Sbp	C	T	17: 23,945,306 (GRCm38)	A154V	probably benign	Het
Scara3	C	T	14: 65,931,440 (GRCm38)	E243K	probably damaging	Het
Serpinb6b	A	T	13: 32,972,257 (GRCm38)	D110V	probably benign	Het
Skiv2l	T	A	17: 34,841,169 (GRCm38)	D875V	probably benign	Het
Slc2a4	G	C	11: 69,946,433 (GRCm38)	T59R	probably damaging	Het
Slc4a1	A	G	11: 102,356,484 (GRCm38)	S462P	probably damaging	Het
Snx33	C	T	9: 56,925,867 (GRCm38)	R306H	probably damaging	Het
Srf	T	C	17: 46,551,794 (GRCm38)		probably null	Het
Steap3	A	G	1: 120,227,912 (GRCm38)	V439A	probably benign	Het
Syt10	C	T	15: 89,814,338 (GRCm38)	D268N	probably damaging	Het
Terf2	T	C	8: 107,081,217 (GRCm38)	N242S	probably benign	Het
Tex15	A	G	8: 33,581,516 (GRCm38)	T2364A	probably benign	Het
Tgfbr2	A	T	9: 116,109,738 (GRCm38)	H365Q	possibly damaging	Het
Tnrc6c	T	G	11: 117,723,528 (GRCm38)	N837K	probably benign	Het
Trim67	T	A	8: 124,794,330 (GRCm38)	S144T	probably benign	Het
Zc3hav1l	T	G	6: 38,295,147 (GRCm38)	D229A	possibly damaging	Het
Zmym4	A	T	4: 126,882,592 (GRCm38)	V1184E	probably benign	Het

Other mutations in Camk1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00827:Camk1d	APN	2	5,311,073 (GRCm38)	splice site	probably benign
IGL02138:Camk1d	APN	2	5,445,084 (GRCm38)	nonsense	probably null
IGL02826:Camk1d	APN	2	5,565,760 (GRCm38)	missense	possibly damaging	0.56
IGL02999:Camk1d	APN	2	5,354,705 (GRCm38)	missense	probably benign	0.44
R0432:Camk1d	UTSW	2	5,445,135 (GRCm38)	missense	probably damaging	1.00
R1180:Camk1d	UTSW	2	5,362,025 (GRCm38)	nonsense	probably null
R1448:Camk1d	UTSW	2	5,362,025 (GRCm38)	nonsense	probably null
R1628:Camk1d	UTSW	2	5,311,037 (GRCm38)	missense	probably damaging	0.99
R1850:Camk1d	UTSW	2	5,362,015 (GRCm38)	missense	probably benign	0.08
R1998:Camk1d	UTSW	2	5,362,025 (GRCm38)	nonsense	probably null
R2000:Camk1d	UTSW	2	5,362,025 (GRCm38)	nonsense	probably null
R2513:Camk1d	UTSW	2	5,714,236 (GRCm38)	start codon destroyed	probably null	0.15
R4065:Camk1d	UTSW	2	5,565,773 (GRCm38)	missense	probably damaging	1.00
R4201:Camk1d	UTSW	2	5,354,776 (GRCm38)	missense	probably benign	0.03
R4581:Camk1d	UTSW	2	5,354,704 (GRCm38)	missense	probably benign	0.21
R4760:Camk1d	UTSW	2	5,362,056 (GRCm38)	missense	probably damaging	1.00
R4894:Camk1d	UTSW	2	5,354,728 (GRCm38)	missense	probably damaging	1.00
R5001:Camk1d	UTSW	2	5,313,101 (GRCm38)	missense	possibly damaging	0.50
R5394:Camk1d	UTSW	2	5,303,366 (GRCm38)	missense	probably benign	0.10
R5754:Camk1d	UTSW	2	5,445,099 (GRCm38)	missense	probably damaging	1.00
R5754:Camk1d	UTSW	2	5,445,097 (GRCm38)	missense	probably benign	0.10
R5877:Camk1d	UTSW	2	5,565,665 (GRCm38)	missense	probably benign	0.00
R6444:Camk1d	UTSW	2	5,313,145 (GRCm38)	missense	probably damaging	1.00
R9177:Camk1d	UTSW	2	5,299,090 (GRCm38)	missense	probably benign	0.21
R9268:Camk1d	UTSW	2	5,299,090 (GRCm38)	missense	probably benign	0.21
R9329:Camk1d	UTSW	2	5,445,143 (GRCm38)	missense	probably benign
R9433:Camk1d	UTSW	2	5,675,966 (GRCm38)	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