Mutagenetix > Incidental Mutation

Incidental Mutation 'R7723:Camkk1'

595357

Institutional Source

Beutler Lab

Gene Symbol

Camkk1

Ensembl Gene

ENSMUSG00000020785

Gene Name

calcium/calmodulin-dependent protein kinase kinase 1, alpha

Synonyms

CaMKKalpha

MMRRC Submission

045779-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7723 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72909834-72932899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 72928058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 363 (R363L)

Ref Sequence

ENSEMBL: ENSMUSP00000090613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092937] [ENSMUST00000145834]

AlphaFold

Q8VBY2

Predicted Effect

probably benign
Transcript: ENSMUST00000092937
AA Change: R363L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000090613
Gene: ENSMUSG00000020785
AA Change: R363L

Domain	Start	End	E-Value	Type
S_TKc	128	409	7.77e-94	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145834
AA Change: R243L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000123441
Gene: ENSMUSG00000020785
AA Change: R243L

Domain	Start	End	E-Value	Type
S_TKc	8	291	2.15e-87	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and grossly normal but exhibit context fear deficits during both conditioning and long-term follow-up testing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apbb1ip	G	A	2: 22,761,574 (GRCm39)		probably null	Het
Brinp3	C	T	1: 146,577,409 (GRCm39)	T148I	probably damaging	Het
C1qa	A	T	4: 136,623,744 (GRCm39)	C153*	probably null	Het
Ccdc80	T	G	16: 44,946,798 (GRCm39)		probably null	Het
Cenpu	T	C	8: 47,029,349 (GRCm39)	S351P	probably damaging	Het
Chd9	C	T	8: 91,741,837 (GRCm39)	L1609F	unknown	Het
Cnr1	T	A	4: 33,944,416 (GRCm39)	I268N	probably damaging	Het
Cyp3a59	A	T	5: 146,016,154 (GRCm39)	I4F	probably benign	Het
Dph6	A	G	2: 114,475,236 (GRCm39)	V93A	probably damaging	Het
Egf	T	A	3: 129,499,786 (GRCm39)	M785L	probably benign	Het
Fbn1	A	T	2: 125,223,954 (GRCm39)	C598*	probably null	Het
Fer	T	C	17: 64,203,273 (GRCm39)	S68P	probably damaging	Het
Herc1	C	T	9: 66,279,158 (GRCm39)	T22I	probably benign	Het
Kat2b	A	G	17: 53,945,415 (GRCm39)	D278G	possibly damaging	Het
Kdm1a	C	T	4: 136,285,060 (GRCm39)	V520I	probably benign	Het
Lrrc4c	G	T	2: 97,460,999 (GRCm39)	V542L	possibly damaging	Het
Lrrtm3	T	C	10: 63,924,427 (GRCm39)	T247A	possibly damaging	Het
Macf1	T	C	4: 123,326,717 (GRCm39)	S4929G	probably benign	Het
Mbd4	A	T	6: 115,822,324 (GRCm39)	H428Q	possibly damaging	Het
Mink1	C	G	11: 70,503,736 (GRCm39)	Q1183E	probably benign	Het
Myo9a	C	T	9: 59,687,141 (GRCm39)	P82L	probably damaging	Het
Nts	T	C	10: 102,320,784 (GRCm39)	T102A	probably damaging	Het
Nup35	T	C	2: 80,486,375 (GRCm39)	I230T	possibly damaging	Het
Nwd2	A	T	5: 63,965,347 (GRCm39)	T1644S	possibly damaging	Het
Nynrin	T	A	14: 56,109,502 (GRCm39)	N1536K	possibly damaging	Het
Or10d5j	A	T	9: 39,867,920 (GRCm39)	Y104N	possibly damaging	Het
Or13p10	A	G	4: 118,522,914 (GRCm39)	S67G	probably benign	Het
Or2at4	A	G	7: 99,384,884 (GRCm39)	Y178C	possibly damaging	Het
Or2l13b	A	T	16: 19,349,358 (GRCm39)	L104*	probably null	Het
Or5d44	A	C	2: 88,141,819 (GRCm39)	V107G	possibly damaging	Het
Palld	C	T	8: 62,164,492 (GRCm39)	V400I	probably damaging	Het
Pank2	T	C	2: 131,122,258 (GRCm39)	V261A	probably damaging	Het
Pcdhb3	C	A	18: 37,435,565 (GRCm39)	N510K	probably damaging	Het
Pfkfb2	A	T	1: 130,635,325 (GRCm39)	Y79N	probably damaging	Het
Phc2	C	T	4: 128,616,882 (GRCm39)	A385V	probably benign	Het
Prob1	T	C	18: 35,785,942 (GRCm39)	T771A	possibly damaging	Het
Psmb6	T	C	11: 70,417,396 (GRCm39)	V109A	possibly damaging	Het
Ptcd1	T	C	5: 145,091,639 (GRCm39)	T487A	probably damaging	Het
Ralgapa1	A	T	12: 55,788,298 (GRCm39)	M595K	probably benign	Het
Rps12	A	T	10: 23,662,752 (GRCm39)	V14D	probably benign	Het
Scn3b	C	A	9: 40,199,693 (GRCm39)	S203*	probably null	Het
Serinc1	G	A	10: 57,403,918 (GRCm39)	P15L	probably benign	Het
Six2	A	G	17: 85,995,103 (GRCm39)	I93T	probably benign	Het
Slco1a1	T	A	6: 141,854,795 (GRCm39)	I619F	probably damaging	Het
Snx25	A	C	8: 46,491,516 (GRCm39)	V858G	probably damaging	Het
Sspo	G	A	6: 48,441,572 (GRCm39)	C1903Y	probably damaging	Het
Tas2r116	T	A	6: 132,832,867 (GRCm39)	I156N	probably benign	Het
Tasp1	G	T	2: 139,827,051 (GRCm39)	T189K	probably damaging	Het
Tdrd6	A	T	17: 43,936,851 (GRCm39)	M1399K	probably benign	Het
Tecta	C	A	9: 42,278,232 (GRCm39)	C1092F	probably damaging	Het
Tmem150a	G	A	6: 72,336,057 (GRCm39)	V215I	probably damaging	Het
Tmem176b	C	T	6: 48,812,869 (GRCm39)	V109I	probably benign	Het
Trav8d-1	T	A	14: 53,016,321 (GRCm39)	I69K	probably damaging	Het
Ttn	A	T	2: 76,638,419 (GRCm39)	L13954I	probably damaging	Het
Veph1	C	A	3: 66,113,093 (GRCm39)	C237F	possibly damaging	Het
Vmn1r121	G	A	7: 20,832,119 (GRCm39)	T107I	probably damaging	Het
Zdhhc13	G	A	7: 48,458,567 (GRCm39)	M300I	probably benign	Het
Zfp608	T	C	18: 55,030,673 (GRCm39)	D1089G	probably damaging	Het

Other mutations in Camkk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01762:Camkk1	APN	11	72,921,627 (GRCm39)	critical splice acceptor site	probably null
IGL02019:Camkk1	APN	11	72,928,027 (GRCm39)	missense	probably damaging	0.99
IGL02054:Camkk1	APN	11	72,916,708 (GRCm39)	missense	probably damaging	1.00
IGL02547:Camkk1	APN	11	72,929,259 (GRCm39)	missense	probably benign	0.22
IGL02628:Camkk1	APN	11	72,919,995 (GRCm39)	splice site	probably benign
PIT4651001:Camkk1	UTSW	11	72,916,647 (GRCm39)	missense	probably benign
R1449:Camkk1	UTSW	11	72,924,710 (GRCm39)	missense	probably damaging	0.96
R1573:Camkk1	UTSW	11	72,918,307 (GRCm39)	missense	probably damaging	0.99
R3912:Camkk1	UTSW	11	72,924,642 (GRCm39)	missense	probably benign	0.16
R4084:Camkk1	UTSW	11	72,928,691 (GRCm39)	missense	probably damaging	1.00
R5284:Camkk1	UTSW	11	72,928,381 (GRCm39)	missense	probably benign	0.00
R6556:Camkk1	UTSW	11	72,924,696 (GRCm39)	missense	probably benign	0.32
R7329:Camkk1	UTSW	11	72,917,873 (GRCm39)	missense	probably damaging	0.99
R7330:Camkk1	UTSW	11	72,917,873 (GRCm39)	missense	probably damaging	0.99
R7787:Camkk1	UTSW	11	72,917,412 (GRCm39)	missense	probably benign	0.14
R8300:Camkk1	UTSW	11	72,918,266 (GRCm39)	missense	probably benign	0.34
R8932:Camkk1	UTSW	11	72,924,734 (GRCm39)	missense	probably damaging	1.00
R9432:Camkk1	UTSW	11	72,928,757 (GRCm39)	missense	probably damaging	1.00
X0066:Camkk1	UTSW	11	72,928,030 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTTACATTTGCTGAGCCCTTGC -3'
(R):5'- TCCTCAGATGGACGGACAGAAG -3'

Sequencing Primer
(F):5'- CCTTGCTGTGTGTCCTGAACAAG -3'
(R):5'- AGAAGGCCTCCCATCTGCTC -3'

Posted On

2019-11-12