Mutagenetix > Incidental Mutation

Incidental Mutation 'R1180:Camk1d'

101448

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

039252-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1180 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5298268-5719326 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 5366836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 126 (Y126*)

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: Y134*

SMART Domains

Protein: ENSMUSP00000037028
Gene: ENSMUSG00000039145
AA Change: Y134*

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: Y126*

SMART Domains

Protein: ENSMUSP00000110638
Gene: ENSMUSG00000039145
AA Change: Y126*

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

0.9755

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.5%
20x: 87.5%

Validation Efficiency

98% (55/56)

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
2610021A01Rik	T	A	7: 41,275,141 (GRCm39)	D281E	probably benign	Het
Adam24	T	G	8: 41,134,467 (GRCm39)	V645G	probably damaging	Het
Apcdd1	A	T	18: 63,070,168 (GRCm39)	Y145F	probably damaging	Het
Cadps	A	G	14: 12,457,836 (GRCm38)		probably benign	Het
Chd8	A	C	14: 52,458,565 (GRCm39)	S848A	probably damaging	Het
Col6a3	T	C	1: 90,709,577 (GRCm39)	K1873R	unknown	Het
Cpd	T	C	11: 76,692,579 (GRCm39)	T753A	possibly damaging	Het
Cxcr2	A	T	1: 74,197,527 (GRCm39)	D7V	probably benign	Het
Dock4	A	G	12: 40,690,413 (GRCm39)	E173G	possibly damaging	Het
EU599041	G	A	7: 42,875,731 (GRCm39)		noncoding transcript	Het
Fer1l6	G	A	15: 58,474,160 (GRCm39)		probably benign	Het
Flt3	T	C	5: 147,278,048 (GRCm39)	D842G	probably damaging	Het
Foxp4	G	C	17: 48,191,278 (GRCm39)		probably benign	Het
Fsip2	T	C	2: 82,805,570 (GRCm39)	Y630H	probably damaging	Het
Gprin3	C	A	6: 59,331,921 (GRCm39)	V129F	possibly damaging	Het
Gstm1	A	G	3: 107,922,127 (GRCm39)	F170S	probably damaging	Het
Hoxa3	A	C	6: 52,147,382 (GRCm39)	Y290*	probably null	Het
Htra4	G	T	8: 25,523,735 (GRCm39)	L277I	probably damaging	Het
Jak2	A	G	19: 29,259,899 (GRCm39)	Y266C	probably damaging	Het
Kif6	T	A	17: 50,139,284 (GRCm39)		probably benign	Het
Kiz	C	T	2: 146,811,927 (GRCm39)	R679C	unknown	Het
Kyat3	A	C	3: 142,443,531 (GRCm39)		probably null	Het
Mipep	G	A	14: 61,071,505 (GRCm39)	V537I	probably damaging	Het
Mrpl44	T	A	1: 79,755,677 (GRCm39)	N94K	probably damaging	Het
Mstn	A	T	1: 53,103,167 (GRCm39)	T168S	possibly damaging	Het
Mx2	G	A	16: 97,357,209 (GRCm39)	R434H	probably damaging	Het
Myh6	A	G	14: 55,181,925 (GRCm39)	I1792T	possibly damaging	Het
Myo16	T	C	8: 10,446,908 (GRCm39)	S450P	probably damaging	Het
Nherf4	T	A	9: 44,160,543 (GRCm39)	D284V	probably benign	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Or3a1b	A	G	11: 74,012,406 (GRCm39)	Y97C	probably benign	Het
Or5d16	G	A	2: 87,773,490 (GRCm39)	L161F	probably benign	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Pkhd1	C	T	1: 20,655,381 (GRCm39)		probably null	Het
Psmd8	A	T	7: 28,874,825 (GRCm39)	V248E	probably benign	Het
Ranbp2	A	G	10: 58,301,285 (GRCm39)	Y646C	probably damaging	Het
Samsn1	C	T	16: 75,670,536 (GRCm39)	G189E	probably damaging	Het
Sec61g	A	C	11: 16,454,722 (GRCm39)		probably benign	Het
Sfmbt2	C	T	2: 10,406,877 (GRCm39)	H59Y	probably damaging	Het
Shb	T	C	4: 45,423,996 (GRCm39)	I486V	possibly damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Spag16	G	A	1: 69,962,817 (GRCm39)		probably benign	Het
Spink13	A	G	18: 62,741,241 (GRCm39)		probably benign	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tk1	A	G	11: 117,712,921 (GRCm39)		probably null	Het
Tnni3k	A	T	3: 154,581,150 (GRCm39)	H600Q	probably damaging	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Ube2q2	T	C	9: 55,102,700 (GRCm39)		probably benign	Het
Utp14b	C	A	1: 78,643,162 (GRCm39)	N353K	probably damaging	Het
Zfp474	C	T	18: 52,771,814 (GRCm39)	Q156*	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
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

Predicted Primers

PCR Primer
(F):5'- CAAAACTGCACAACTGCTCTTTCCG -3'
(R):5'- TTAGCCAGGGAGGCCATTTTGAC -3'

Sequencing Primer
(F):5'- GCCTCTCTCTTCTCAAAACATATC -3'
(R):5'- ATTGCTGTGCCACAAAGCTTG -3'

Posted On

2014-01-15