Mutagenetix > Incidental Mutation

Incidental Mutation 'R7686:Camk1'

593088

Institutional Source

Beutler Lab

Gene Symbol

Camk1

Ensembl Gene

ENSMUSG00000030272

Gene Name

calcium/calmodulin-dependent protein kinase I

Synonyms

CaMKIalpha, D6Ertd263e, Camk

MMRRC Submission

045751-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7686 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113311085-113320883 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113313158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 297 (N297Y)

Ref Sequence

ENSEMBL: ENSMUSP00000032409 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032406] [ENSMUST00000032409] [ENSMUST00000136263] [ENSMUST00000155543] [ENSMUST00000204834]

AlphaFold

Q91YS8

Predicted Effect

probably benign
Transcript: ENSMUST00000032406

SMART Domains

Protein: ENSMUSP00000032406
Gene: ENSMUSG00000030271

Domain	Start	End	E-Value	Type
Pfam:OGG_N	25	141	4e-38	PFAM
ENDO3c	146	316	4.84e-35	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000032409
AA Change: N297Y

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

SMART Domains

Protein: ENSMUSP00000032409
Gene: ENSMUSG00000030272
AA Change: N297Y

Domain	Start	End	E-Value	Type
S_TKc	20	276	5.03e-111	SMART
low complexity region	319	336	N/A	INTRINSIC
low complexity region	358	370	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136263

SMART Domains

Protein: ENSMUSP00000144792
Gene: ENSMUSG00000030271

Domain	Start	End	E-Value	Type
Pfam:OGG_N	25	130	3e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155543

SMART Domains

Protein: ENSMUSP00000117749
Gene: ENSMUSG00000030272

Domain	Start	End	E-Value	Type
Pfam:Pkinase	8	162	1.4e-45	PFAM
Pfam:Pkinase_Tyr	9	162	1.7e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204834

SMART Domains

Protein: ENSMUSP00000144905
Gene: ENSMUSG00000030271

Domain	Start	End	E-Value	Type
Pfam:OGG_N	25	134	1.2e-27	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (78/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calcium/calmodulin-dependent protein kinase I is expressed in many tissues and is a component of a calmodulin-dependent protein kinase cascade. Calcium/calmodulin directly activates calcium/calmodulin-dependent protein kinase I by binding to the enzyme and indirectly promotes the phosphorylation and synergistic activation of the enzyme by calcium/calmodulin-dependent protein kinase I kinase. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	A	T	1: 66,887,557 (GRCm39)		probably null	Het
Adgrg5	A	T	8: 95,664,430 (GRCm39)	I347F		Het
Agmo	T	C	12: 37,469,973 (GRCm39)	V431A	probably benign	Het
Arl14epl	A	G	18: 47,065,523 (GRCm39)	D96G	probably damaging	Het
Asxl1	C	T	2: 153,233,534 (GRCm39)	S113F	probably damaging	Het
Axdnd1	A	T	1: 156,223,034 (GRCm39)	C81*	probably null	Het
Bloc1s3	C	T	7: 19,241,531 (GRCm39)		probably benign	Het
Bmper	C	G	9: 23,310,840 (GRCm39)	L425V	probably benign	Het
Bok	A	T	1: 93,622,822 (GRCm39)	T194S	probably benign	Het
Bpifa5	A	T	2: 154,007,432 (GRCm39)	I125L	probably benign	Het
Brcc3dc	T	C	10: 108,535,301 (GRCm39)	E218G	probably damaging	Het
Brd10	A	T	19: 29,694,870 (GRCm39)	I1541N	probably benign	Het
Brpf3	T	C	17: 29,025,908 (GRCm39)	I327T	probably damaging	Het
Catsper2	C	T	2: 121,227,937 (GRCm39)		probably null	Het
Ccdc171	A	T	4: 83,575,556 (GRCm39)	N480I	unknown	Het
Cd83	A	G	13: 43,938,848 (GRCm39)	M22V	probably benign	Het
Col1a2	A	G	6: 4,518,964 (GRCm39)	D243G	unknown	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Ctla4	A	T	1: 60,951,752 (GRCm39)	T94S	probably benign	Het
Cyp2b19	T	C	7: 26,461,768 (GRCm39)	F196S	probably damaging	Het
Dhx32	A	T	7: 133,361,430 (GRCm39)	M1K	probably null	Het
Epha3	T	A	16: 63,593,651 (GRCm39)	I146F	probably damaging	Het
Erbb2	T	A	11: 98,326,399 (GRCm39)	S1008T	probably benign	Het
Esp34	A	G	17: 38,870,534 (GRCm39)	R143G	possibly damaging	Het
Fam135b	T	C	15: 71,335,233 (GRCm39)	K654E	possibly damaging	Het
Fgr	T	C	4: 132,725,324 (GRCm39)	M343T	probably benign	Het
Fibcd1	T	G	2: 31,723,880 (GRCm39)	D253A	probably damaging	Het
Foxk1	C	T	5: 142,387,625 (GRCm39)	S116L	probably damaging	Het
Gimap8	G	A	6: 48,633,006 (GRCm39)	G275E	probably damaging	Het
Glp1r	T	C	17: 31,144,633 (GRCm39)	Y269H	probably damaging	Het
H2ac20	T	C	3: 96,127,886 (GRCm39)	E92G	probably damaging	Het
Lbr	A	G	1: 181,645,086 (GRCm39)	F522S	probably damaging	Het
Lca5	T	C	9: 83,277,292 (GRCm39)	N684S	probably benign	Het
Leng8	C	A	7: 4,146,504 (GRCm39)	S372*	probably null	Het
Lrp2	A	G	2: 69,319,581 (GRCm39)	Y1981H	probably damaging	Het
Lrrc37a	T	G	11: 103,389,062 (GRCm39)	Q2121P	unknown	Het
Lrrn2	A	G	1: 132,866,332 (GRCm39)	T466A	probably benign	Het
Map3k19	A	T	1: 127,749,985 (GRCm39)	L1122*	probably null	Het
Mfsd6	T	C	1: 52,701,554 (GRCm39)	E632G	probably benign	Het
Mfsd6l	C	T	11: 68,448,052 (GRCm39)	A301V	probably benign	Het
Mro	A	T	18: 74,010,510 (GRCm39)	M197L	probably benign	Het
Ncam2	A	T	16: 81,418,342 (GRCm39)	E799V	probably damaging	Het
Nek9	A	T	12: 85,350,433 (GRCm39)	D880E	probably benign	Het
Ntng1	T	A	3: 109,842,330 (GRCm39)	I148L	possibly damaging	Het
Or1ad6	A	G	11: 50,860,582 (GRCm39)	T246A	possibly damaging	Het
Or5ac23	T	A	16: 59,149,379 (GRCm39)	R164S	probably damaging	Het
P2ry13	C	T	3: 59,117,439 (GRCm39)	G113D	probably damaging	Het
Pnpt1	A	T	11: 29,107,070 (GRCm39)	T687S	probably damaging	Het
Pou2af1	T	C	9: 51,149,486 (GRCm39)	Y193H	probably damaging	Het
Ppp1r14c	T	A	10: 3,413,396 (GRCm39)	I143N	probably damaging	Het
Ppp1r16a	A	T	15: 76,578,783 (GRCm39)	S496C	probably benign	Het
Prdm12	G	A	2: 31,530,229 (GRCm39)	R40Q	probably damaging	Het
Rabepk	C	T	2: 34,669,308 (GRCm39)	G362S	probably damaging	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf26rt	A	T	6: 76,474,013 (GRCm39)	L201H	probably damaging	Het
Robo2	C	A	16: 73,755,293 (GRCm39)	V743F	probably damaging	Het
Scart1	T	A	7: 139,802,116 (GRCm39)	C148*	probably null	Het
Scart2	A	G	7: 139,828,965 (GRCm39)	N208S	probably benign	Het
Smg1	A	T	7: 117,767,081 (GRCm39)	Y1804N	unknown	Het
Ssh2	A	G	11: 77,316,150 (GRCm39)	E257G	possibly damaging	Het
Stoml3	T	C	3: 53,410,589 (GRCm39)	I101T	probably damaging	Het
Stxbp5	T	C	10: 9,645,154 (GRCm39)	D950G	probably damaging	Het
Syt10	T	C	15: 89,698,360 (GRCm39)	D328G	probably damaging	Het
Taf3	T	C	2: 9,956,299 (GRCm39)	K623E	probably damaging	Het
Tas2r134	T	A	2: 51,518,255 (GRCm39)	S245T	possibly damaging	Het
Tfap2b	G	C	1: 19,284,511 (GRCm39)	D140H	probably damaging	Het
Tjp3	C	T	10: 81,113,885 (GRCm39)	V458I	probably benign	Het
Tnpo3	G	T	6: 29,562,899 (GRCm39)	S606*	probably null	Het
Tram1l1	T	C	3: 124,114,959 (GRCm39)	F40L	probably benign	Het
Ttc29	A	T	8: 79,119,759 (GRCm39)	T464S	probably benign	Het
Txndc9	A	T	1: 38,026,849 (GRCm39)	M192K	probably benign	Het
Urb2	C	A	8: 124,771,911 (GRCm39)	A1444E	probably benign	Het
Uty	G	A	Y: 1,158,075 (GRCm39)	T657I	possibly damaging	Het
Vmn1r1	A	T	1: 181,985,590 (GRCm39)	V25D	probably damaging	Het
Vmn2r65	A	T	7: 84,589,744 (GRCm39)	I724N	probably damaging	Het
Xkr6	C	T	14: 63,844,295 (GRCm39)	T106M	possibly damaging	Het
Zc3h18	G	A	8: 123,140,615 (GRCm39)	R850Q	unknown	Het
Zfp341	A	G	2: 154,466,781 (GRCm39)	E50G	probably damaging	Het
Zfp62	C	A	11: 49,107,985 (GRCm39)	A692E	probably damaging	Het

Other mutations in Camk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Camk1	APN	6	113,313,172 (GRCm39)	missense	probably benign	0.00
IGL01063:Camk1	APN	6	113,315,333 (GRCm39)	missense	probably damaging	0.98
R0415:Camk1	UTSW	6	113,318,852 (GRCm39)	nonsense	probably null
R0944:Camk1	UTSW	6	113,315,352 (GRCm39)	missense	probably damaging	1.00
R2342:Camk1	UTSW	6	113,318,942 (GRCm39)	splice site	probably benign
R5646:Camk1	UTSW	6	113,316,301 (GRCm39)	missense	probably damaging	0.99
R6734:Camk1	UTSW	6	113,311,345 (GRCm39)	missense	probably benign	0.00
R6749:Camk1	UTSW	6	113,311,486 (GRCm39)	missense	probably benign	0.02
R7015:Camk1	UTSW	6	113,318,887 (GRCm39)	missense	probably benign
R7041:Camk1	UTSW	6	113,316,475 (GRCm39)	missense	probably benign	0.03
R7355:Camk1	UTSW	6	113,315,307 (GRCm39)	missense	probably damaging	1.00
R7575:Camk1	UTSW	6	113,315,325 (GRCm39)	missense	probably damaging	1.00
R7748:Camk1	UTSW	6	113,317,289 (GRCm39)	missense	probably damaging	0.96
R8725:Camk1	UTSW	6	113,315,109 (GRCm39)	missense	probably damaging	0.99
R9622:Camk1	UTSW	6	113,318,850 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- TCCCATGGGCTACATCATGTC -3'
(R):5'- CGACATTTGATGGAGAAAGACCC -3'

Sequencing Primer
(F):5'- TCTCTCTGGAGATGGAACCCAG -3'
(R):5'- ACCCGGAGAAGAGGTTTACC -3'

Posted On

2019-11-12