Mutagenetix > Incidental Mutation

Incidental Mutation 'R1850:Camk1d'

207977

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

039874-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1850 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5298268-5719326 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5366826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 130 (M130V)

Ref Sequence

ENSEMBL: ENSMUSP00000110638 (fasta)

Gene Model

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

AlphaFold

Q8BW96

Predicted Effect

probably benign
Transcript: ENSMUST00000044009
AA Change: M138V

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000037028
Gene: ENSMUSG00000039145
AA Change: M138V

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: M130V

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000110638
Gene: ENSMUSG00000039145
AA Change: M130V

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

Meta Mutation Damage Score

0.1566

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

99% (67/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam28	T	A	14: 68,876,644 (GRCm39)	Q202L	probably benign	Het
Adgb	C	A	10: 10,318,246 (GRCm39)	V199F	probably damaging	Het
Aff1	G	T	5: 103,981,773 (GRCm39)	R645S	probably damaging	Het
Aoc1	C	T	6: 48,882,202 (GRCm39)	S48F	probably benign	Het
Atf6	A	T	1: 170,646,855 (GRCm39)	N339K	probably damaging	Het
Bpifb3	C	G	2: 153,771,264 (GRCm39)	S392C	possibly damaging	Het
Ces1a	T	A	8: 93,753,954 (GRCm39)	N350Y	probably damaging	Het
Cfap57	G	A	4: 118,457,091 (GRCm39)	R453C	probably damaging	Het
Chd4	T	A	6: 125,098,619 (GRCm39)	N1532K	probably damaging	Het
Chd5	T	C	4: 152,454,990 (GRCm39)	L824P	probably damaging	Het
Ckap5	G	A	2: 91,426,058 (GRCm39)	R1306H	probably damaging	Het
Crybg1	A	G	10: 43,873,670 (GRCm39)	F1146S	probably damaging	Het
Dusp12	G	A	1: 170,708,198 (GRCm39)	T173M	probably benign	Het
Dync2h1	T	C	9: 7,001,448 (GRCm39)	T3854A	probably benign	Het
Echdc1	A	T	10: 29,220,599 (GRCm39)	I252F	probably damaging	Het
Emc1	A	T	4: 139,086,684 (GRCm39)		probably benign	Het
Fbn2	C	A	18: 58,172,377 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,814,933 (GRCm39)	N3555K	possibly damaging	Het
Gabra1	T	A	11: 42,070,403 (GRCm39)	T20S	probably benign	Het
Igf1	A	C	10: 87,697,236 (GRCm39)	T2P	possibly damaging	Het
Insyn1	A	T	9: 58,406,392 (GRCm39)	M101L	probably benign	Het
Jcad	C	A	18: 4,675,730 (GRCm39)	T1164N	possibly damaging	Het
Kalrn	A	T	16: 33,796,293 (GRCm39)	S2830T	probably damaging	Het
Lepr	C	A	4: 101,590,620 (GRCm39)	A66E	possibly damaging	Het
Lmntd1	T	A	6: 145,359,206 (GRCm39)	M315L	probably benign	Het
Lrch3	A	G	16: 32,807,163 (GRCm39)	T479A	probably benign	Het
Macroh2a1	T	C	13: 56,244,052 (GRCm39)		probably benign	Het
Matr3	A	G	18: 35,715,110 (GRCm39)	N237D	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtif2	A	G	11: 29,490,683 (GRCm39)	I462M	probably benign	Het
Nrip1	T	C	16: 76,090,232 (GRCm39)	I442V	probably damaging	Het
Or11g25	G	A	14: 50,723,055 (GRCm39)	A47T	probably benign	Het
Or6b2b	T	A	1: 92,419,124 (GRCm39)	M118L	possibly damaging	Het
Or8k35	A	T	2: 86,424,448 (GRCm39)	C241*	probably null	Het
Otogl	T	A	10: 107,713,925 (GRCm39)	Y498F	probably damaging	Het
Pbx3	A	T	2: 34,066,832 (GRCm39)	F351I	probably benign	Het
Pcdh18	T	C	3: 49,710,854 (GRCm39)	T154A	probably benign	Het
Pex5l	A	T	3: 33,005,025 (GRCm39)		probably null	Het
Plec	T	C	15: 76,072,432 (GRCm39)	I718V	probably benign	Het
Pparg	T	A	6: 115,427,941 (GRCm39)	Y143N	probably damaging	Het
Prl2c5	A	G	13: 13,360,377 (GRCm39)	I12V	probably benign	Het
Rcor3	T	A	1: 191,804,411 (GRCm39)	Q246L	probably benign	Het
Rnf214	A	T	9: 45,780,746 (GRCm39)		probably benign	Het
S1pr5	A	T	9: 21,155,425 (GRCm39)	S334T	probably benign	Het
Scg3	C	T	9: 75,589,449 (GRCm39)	S35N	possibly damaging	Het
Septin5	A	T	16: 18,443,960 (GRCm39)	L19Q	probably damaging	Het
Serpinb7	T	C	1: 107,356,025 (GRCm39)	F16S	probably damaging	Het
Sipa1l3	A	T	7: 29,038,551 (GRCm39)	S365R	probably damaging	Het
Slc27a1	T	C	8: 72,033,347 (GRCm39)		probably null	Het
Slc2a10	C	A	2: 165,357,133 (GRCm39)	H264Q	probably benign	Het
Slc9a3	A	G	13: 74,309,889 (GRCm39)	I526V	probably benign	Het
Smchd1	T	C	17: 71,696,766 (GRCm39)	D1203G	probably damaging	Het
Spata6l	T	C	19: 28,916,571 (GRCm39)		probably null	Het
Sult1b1	A	G	5: 87,668,700 (GRCm39)	W181R	probably damaging	Het
Supt6	A	G	11: 78,110,703 (GRCm39)		probably benign	Het
Tcf12	C	A	9: 71,775,497 (GRCm39)	A418S	probably damaging	Het
Tesk1	C	T	4: 43,443,576 (GRCm39)	R48C	probably damaging	Het
Tiam2	A	G	17: 3,487,510 (GRCm39)	Q677R	probably damaging	Het
Tspan8	C	T	10: 115,669,130 (GRCm39)	A55V	probably damaging	Het
Txndc11	T	C	16: 10,906,268 (GRCm39)	N421D	probably damaging	Het
Vmn1r201	A	G	13: 22,658,801 (GRCm39)	N5S	probably benign	Het
Vmn2r120	T	A	17: 57,832,826 (GRCm39)	I118L	probably benign	Het
Vps13b	A	T	15: 35,675,105 (GRCm39)		probably benign	Het
Wdfy3	A	G	5: 102,042,865 (GRCm39)	V1962A	probably damaging	Het
Zswim8	C	T	14: 20,760,815 (GRCm39)	R107*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- AAGCTTGCAAACTATGGCCAAC -3'
(R):5'- CATGCATCATTTGGCAGCCC -3'

Sequencing Primer
(F):5'- AAGCTATGTCTGGGCCTCAAG -3'
(R):5'- ATCATTTGGCAGCCCTCCAG -3'

Posted On

2014-06-23