Mutagenetix > Incidental Mutations

Incidental Mutation 'R5754:Camk1d'

444929

Institutional Source

Beutler Lab

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 #

R5754 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5293457-5714515 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5445097 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 91 (P91Q)

Ref Sequence

ENSEMBL: ENSMUSP00000037028 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000044009
AA Change: P91Q

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000037028
Gene: ENSMUSG00000039145
AA Change: P91Q

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 benign
Transcript: ENSMUST00000114987
AA Change: P83Q

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

SMART Domains

Protein: ENSMUSP00000110638
Gene: ENSMUSG00000039145
AA Change: P83Q

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

Meta Mutation Damage Score

0.0759

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

98% (61/62)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,269,541	S609P	probably damaging	Het
Abcb4	T	A	5: 8,934,320	N683K	probably benign	Het
Atad2b	T	A	12: 5,010,351	H915Q	probably benign	Het
Card11	T	C	5: 140,899,769	E345G	probably damaging	Het
Ccdc58	A	G	16: 36,085,057	N63S	probably benign	Het
Ccpg1	G	T	9: 73,013,244	V714L	possibly damaging	Het
Chst9	T	C	18: 15,453,197	E103G	possibly damaging	Het
Cnga1	C	T	5: 72,605,272	V300I	probably benign	Het
Crb1	T	C	1: 139,231,599	Y1295C	probably damaging	Het
Dnah5	A	G	15: 28,401,868	T3392A	probably benign	Het
Elp3	C	A	14: 65,547,990	R473L	probably damaging	Het
Epgn	T	A	5: 91,033,948	I145N	probably benign	Het
Fam107b	G	A	2: 3,778,420	G220D	probably damaging	Het
Fbn2	A	G	18: 58,124,311	V328A	probably benign	Het
Fn1	A	T	1: 71,600,322	I1770N	probably damaging	Het
Fndc1	T	A	17: 7,769,753	Y1159F	unknown	Het
Frem2	A	G	3: 53,537,258	L2484P	probably damaging	Het
Grk2	C	T	19: 4,290,468	R295H	probably damaging	Het
Gtf3c1	A	T	7: 125,644,065	V1789D	possibly damaging	Het
Hmgcl	T	C	4: 135,950,587	V33A	probably damaging	Het
Ighv7-1	A	G	12: 113,896,619	F51S	probably damaging	Het
Kcna6	A	G	6: 126,739,725	L67P	probably damaging	Het
Lamc1	A	T	1: 153,247,284	V720E	probably benign	Het
Lrch1	T	C	14: 74,817,118	D312G	probably damaging	Het
Nav2	A	G	7: 49,557,046	T1540A	probably damaging	Het
Nisch	A	T	14: 31,191,416		probably benign	Het
Nos1ap	T	A	1: 170,349,399	K145M	probably damaging	Het
Npc1l1	A	G	11: 6,227,839	Y524H	probably damaging	Het
Nrap	T	C	19: 56,389,484	T25A	possibly damaging	Het
Nusap1	A	G	2: 119,647,099	K363R	probably damaging	Het
Olfr1019	T	C	2: 85,841,312	T160A	probably damaging	Het
Olfr1489	A	G	19: 13,633,993	E294G	probably damaging	Het
Olfr873	T	A	9: 20,301,094	L298Q	probably damaging	Het
Pde4d	T	C	13: 109,938,013	I384T	probably damaging	Het
Pkhd1	T	A	1: 20,523,651	R1413*	probably null	Het
Plcd3	T	A	11: 103,073,766	Y593F	possibly damaging	Het
Plxna1	A	T	6: 89,333,105	I1026N	possibly damaging	Het
Podxl	T	A	6: 31,524,394	I409F	probably damaging	Het
Polq	A	C	16: 37,017,263	Q179P	probably benign	Het
Pomt1	T	C	2: 32,247,590	V401A	probably damaging	Het
Qdpr	C	T	5: 45,439,385	G146S	probably damaging	Het
Shc4	T	A	2: 125,670,298	Q2L	probably damaging	Het
Skint8	T	A	4: 111,950,190	C358S	probably benign	Het
Smc5	T	C	19: 23,244,103	E354G	possibly damaging	Het
Snx30	T	C	4: 59,868,275	V129A	probably damaging	Het
Sp110	G	C	1: 85,577,202		probably benign	Het
Spag6	T	A	2: 18,698,802		probably benign	Het
Trim28	T	A	7: 13,029,109	Y450N	probably benign	Het
Trip11	C	T	12: 101,885,665	W428*	probably null	Het
Umodl1	T	A	17: 30,994,787	V966E	probably damaging	Het
Utf1	A	G	7: 139,944,791		probably benign	Het
Vmn1r72	T	C	7: 11,669,849	Y224C	probably damaging	Het
Whrn	A	G	4: 63,416,588	S748P	probably damaging	Het
Zbtb41	T	A	1: 139,432,078		probably null	Het
Zfhx3	T	C	8: 108,800,332	F954L	probably damaging	Het
Zfp456	A	T	13: 67,366,240	I449K	probably benign	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
IGL02826:Camk1d	APN	2	5565760	missense	possibly damaging	0.56
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	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

Predicted Primers

PCR Primer
(F):5'- ATGACTGTGTGCCCCATGTG -3'
(R):5'- TCAATCCAGTGTTGGCTGTG -3'

Sequencing Primer
(F):5'- CCATGTGGGGGCCATCTTAG -3'
(R):5'- CTTATCACAGTGTGTGCG -3'

Posted On

2016-11-21