Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01063:Camk1'

51233

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Camk1

Ensembl Gene

ENSMUSG00000030272

Gene Name

calcium/calmodulin-dependent protein kinase I

Synonyms

CaMKIalpha, D6Ertd263e, Camk

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01063

Quality Score

Status

Chromosome

Chromosomal Location

113311085-113320883 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113315333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 155 (D155V)

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: D155V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032409
Gene: ENSMUSG00000030272
AA Change: D155V

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

noncoding transcript
Transcript: ENSMUST00000147945

SMART Domains

Protein: ENSMUSP00000116265
Gene: ENSMUSG00000030271

Domain	Start	End	E-Value	Type
Blast:ENDO3c	7	75	7e-46	BLAST
PDB:1KO9\|A	7	104	1e-55	PDB
SCOP:d1ko9a1	8	82	1e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149497

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153067

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155543
AA Change: D111V

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000117749
Gene: ENSMUSG00000030272
AA Change: D111V

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

noncoding transcript
Transcript: ENSMUST00000156512

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156853

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

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
4930444P10Rik	A	T	1: 16,148,870 (GRCm39)	L61*	probably null	Het
Abca7	T	C	10: 79,847,131 (GRCm39)	I1705T	probably damaging	Het
Ablim1	T	A	19: 57,049,760 (GRCm39)	I393F	probably damaging	Het
Adamts5	A	G	16: 85,696,722 (GRCm39)	L145P	probably damaging	Het
Ano6	T	C	15: 95,846,310 (GRCm39)	I537T	probably damaging	Het
AU018091	T	C	7: 3,212,153 (GRCm39)	I190V	possibly damaging	Het
Cdh6	A	C	15: 13,064,581 (GRCm39)	I103S	probably damaging	Het
Cntnap1	A	G	11: 101,072,614 (GRCm39)	D537G	probably benign	Het
Col6a3	T	C	1: 90,730,054 (GRCm39)	K1144E	probably damaging	Het
Cpeb1	T	A	7: 81,021,929 (GRCm39)	E71D	probably benign	Het
Cps1	T	C	1: 67,234,325 (GRCm39)	L904P	possibly damaging	Het
Cyfip1	T	A	7: 55,553,958 (GRCm39)	F700I	probably damaging	Het
Dmp1	G	A	5: 104,354,965 (GRCm39)	M1I	probably null	Het
Efcab6	A	T	15: 83,938,713 (GRCm39)	M1K	probably null	Het
Extl2	A	T	3: 115,821,131 (GRCm39)	H312L	possibly damaging	Het
Fat4	C	A	3: 38,944,728 (GRCm39)	A1207D	possibly damaging	Het
Flnb	T	C	14: 7,926,518 (GRCm38)		probably benign	Het
Hdac10	G	T	15: 89,008,071 (GRCm39)	A593E	possibly damaging	Het
Hdhd2	T	C	18: 77,052,969 (GRCm39)		probably null	Het
Kcnq2	A	G	2: 180,751,582 (GRCm39)		probably benign	Het
Kdm7a	A	G	6: 39,142,064 (GRCm39)	F405L	probably damaging	Het
Lypd6b	C	A	2: 49,833,642 (GRCm39)		probably benign	Het
Mki67	A	T	7: 135,296,651 (GRCm39)	D2794E	possibly damaging	Het
Mtmr14	T	A	6: 113,243,287 (GRCm39)	F40I	probably damaging	Het
Or2y3	G	T	17: 38,393,544 (GRCm39)	S108R	possibly damaging	Het
Or5p55	A	T	7: 107,566,741 (GRCm39)	I46F	probably damaging	Het
Or6d13	T	A	6: 116,517,968 (GRCm39)	C185S	probably damaging	Het
Or6x1	A	T	9: 40,099,052 (GRCm39)	I214F	probably benign	Het
Ppargc1a	C	A	5: 51,631,664 (GRCm39)	V322L	probably benign	Het
Ppfibp1	T	A	6: 146,931,195 (GRCm39)	M917K	probably benign	Het
Prkg2	C	T	5: 99,117,795 (GRCm39)		probably null	Het
Rfx4	A	G	10: 84,704,246 (GRCm39)	E296G	possibly damaging	Het
Rfx8	T	A	1: 39,722,110 (GRCm39)	K292*	probably null	Het
Scamp3	C	A	3: 89,084,973 (GRCm39)		probably benign	Het
Scn4a	A	T	11: 106,221,190 (GRCm39)	I823N	possibly damaging	Het
Sdk2	A	G	11: 113,721,668 (GRCm39)	V1316A	probably damaging	Het
Setd2	T	C	9: 110,402,741 (GRCm39)	V1794A	probably damaging	Het
Stard8	G	T	X: 98,116,694 (GRCm39)	R983L	probably damaging	Het
Tbc1d23	A	T	16: 57,013,038 (GRCm39)	D311E	probably benign	Het
Tex21	T	C	12: 76,245,592 (GRCm39)	H568R	probably benign	Het
Tex35	T	C	1: 156,932,667 (GRCm39)		probably benign	Het
Tgs1	T	A	4: 3,591,292 (GRCm39)	F442I	possibly damaging	Het
Traf2	C	A	2: 25,414,931 (GRCm39)	C303F	probably benign	Het
Trim56	A	T	5: 137,143,354 (GRCm39)	V54D	possibly damaging	Het
Yars2	C	T	16: 16,124,406 (GRCm39)	R338*	probably null	Het
Zfp668	A	T	7: 127,465,454 (GRCm39)	C577S	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
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
R7686:Camk1	UTSW	6	113,313,158 (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

Posted On

2013-06-21