Mutagenetix > Incidental Mutation

Incidental Mutation 'R9688:Camk1g'

728951

Institutional Source

Beutler Lab

Gene Symbol

Camk1g

Ensembl Gene

ENSMUSG00000016179

Gene Name

calcium/calmodulin-dependent protein kinase I gamma

Synonyms

CLICK-III, CaMKIgamma

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R9688 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

193028654-193052606 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 193031029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 305 (R305W)

Ref Sequence

ENSEMBL: ENSMUSP00000016323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016315] [ENSMUST00000016323] [ENSMUST00000159955] [ENSMUST00000169907] [ENSMUST00000194677]

AlphaFold

Q91VB2

Predicted Effect

probably benign
Transcript: ENSMUST00000016315

SMART Domains

Protein: ENSMUSP00000016315
Gene: ENSMUSG00000026639

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
LamNT	20	248	7.63e-84	SMART
EGF_Lam	250	310	1.67e-7	SMART
EGF_Lam	313	373	1.14e-9	SMART
EGF_Lam	376	425	5.56e-13	SMART
EGF_Lam	428	475	6.05e-14	SMART
EGF_Lam	478	528	5e-6	SMART
EGF_Lam	531	575	3.01e-9	SMART
low complexity region	662	673	N/A	INTRINSIC
low complexity region	727	763	N/A	INTRINSIC
coiled coil region	830	879	N/A	INTRINSIC
coiled coil region	949	979	N/A	INTRINSIC
coiled coil region	1037	1090	N/A	INTRINSIC
low complexity region	1116	1126	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000016323
AA Change: R305W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000016323
Gene: ENSMUSG00000016179
AA Change: R305W

Domain	Start	End	E-Value	Type
S_TKc	23	277	9.53e-112	SMART
low complexity region	376	389	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159955

SMART Domains

Protein: ENSMUSP00000123875
Gene: ENSMUSG00000026639

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
LamNT	20	248	7.63e-84	SMART
EGF_Lam	250	310	1.67e-7	SMART
EGF_Lam	313	373	1.14e-9	SMART
EGF_Lam	376	425	5.56e-13	SMART
EGF_Lam	428	475	6.05e-14	SMART
EGF_Lam	478	528	5e-6	SMART
EGF_Lam	531	575	3.01e-9	SMART
low complexity region	662	673	N/A	INTRINSIC
low complexity region	727	763	N/A	INTRINSIC
coiled coil region	830	879	N/A	INTRINSIC
coiled coil region	949	979	N/A	INTRINSIC
coiled coil region	1037	1090	N/A	INTRINSIC
low complexity region	1116	1126	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163202

SMART Domains

Protein: ENSMUSP00000131451
Gene: ENSMUSG00000016179

Domain	Start	End	E-Value	Type
S_TKc	2	238	5.19e-72	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000169907
AA Change: R305W

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128143
Gene: ENSMUSG00000016179
AA Change: R305W

Domain	Start	End	E-Value	Type
S_TKc	23	277	9.53e-112	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000194677

SMART Domains

Protein: ENSMUSP00000142053
Gene: ENSMUSG00000026639

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
LamNT	20	248	7.63e-84	SMART
EGF_Lam	250	310	1.67e-7	SMART
EGF_Lam	313	373	1.14e-9	SMART
EGF_Lam	376	425	5.56e-13	SMART
EGF_Lam	428	475	6.05e-14	SMART
EGF_Lam	478	528	5e-6	SMART
EGF_Lam	531	575	3.01e-9	SMART
low complexity region	662	673	N/A	INTRINSIC
low complexity region	727	763	N/A	INTRINSIC
coiled coil region	830	879	N/A	INTRINSIC
coiled coil region	949	979	N/A	INTRINSIC
coiled coil region	1037	1090	N/A	INTRINSIC
low complexity region	1116	1126	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein similar to calcium/calmodulin dependent protein kinase, however, its exact function is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired dendritogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	G	11: 23,469,067 (GRCm39)		probably null	Het
Abca2	G	C	2: 25,324,459 (GRCm39)	A272P	possibly damaging	Het
Adarb1	T	A	10: 77,147,099 (GRCm39)	D479V	probably damaging	Het
Amz2	T	C	11: 109,320,765 (GRCm39)	F162S	probably damaging	Het
Ano4	A	T	10: 89,180,506 (GRCm39)	M1K	probably null	Het
Antxr1	G	A	6: 87,114,334 (GRCm39)	R478C	probably damaging	Het
Apobr	T	C	7: 126,186,663 (GRCm39)	S725P	probably benign	Het
Arap2	A	T	5: 62,872,109 (GRCm39)	D506E	probably damaging	Het
Ash1l	T	G	3: 88,892,024 (GRCm39)	I1301S	probably damaging	Het
Ces2g	A	T	8: 105,691,304 (GRCm39)	I147F	probably benign	Het
Cfap61	T	C	2: 145,878,758 (GRCm39)	F505L	probably damaging	Het
Cndp1	G	C	18: 84,655,982 (GRCm39)	N62K	probably benign	Het
Cog6	G	T	3: 52,916,528 (GRCm39)	Q214K	probably benign	Het
Depdc5	T	A	5: 33,055,276 (GRCm39)	Y226*	probably null	Het
Elp5	T	A	11: 69,861,425 (GRCm39)	I185F	probably damaging	Het
Ercc6	A	C	14: 32,297,755 (GRCm39)	H1334P	probably benign	Het
Ern1	T	C	11: 106,349,836 (GRCm39)	T27A	possibly damaging	Het
Esf1	A	T	2: 140,010,095 (GRCm39)	D80E	probably damaging	Het
Evpl	T	C	11: 116,124,986 (GRCm39)	K159E	probably damaging	Het
Gbx1	T	C	5: 24,731,510 (GRCm39)	Y102C	probably damaging	Het
Gjd2	A	G	2: 113,842,109 (GRCm39)	S123P	probably benign	Het
H2-M11	A	G	17: 36,859,054 (GRCm39)	Y198C	probably damaging	Het
Hps1	A	C	19: 42,755,147 (GRCm39)	V265G	probably benign	Het
Ifna16	C	A	4: 88,594,874 (GRCm39)	E74*	probably null	Het
Inca1	C	T	11: 70,579,810 (GRCm39)		probably null	Het
Jag2	A	G	12: 112,872,564 (GRCm39)	V1230A	probably benign	Het
Jam3	G	A	9: 27,010,204 (GRCm39)	T260M	probably benign	Het
Klhl5	A	T	5: 65,321,930 (GRCm39)	D652V	probably damaging	Het
L3mbtl1	A	T	2: 162,790,697 (GRCm39)	I81L	possibly damaging	Het
Lgalsl	C	T	11: 20,779,442 (GRCm39)	A68T	probably benign	Het
Map3k14	T	A	11: 103,130,059 (GRCm39)	D286V	possibly damaging	Het
Mdn1	A	G	4: 32,745,590 (GRCm39)	I4083V	probably damaging	Het
Ms4a5	T	C	19: 11,254,058 (GRCm39)	I136M	possibly damaging	Het
Mtcl3	T	C	10: 29,072,691 (GRCm39)	V661A	possibly damaging	Het
Naa16	A	T	14: 79,573,309 (GRCm39)	Y820*	probably null	Het
Nbea	G	T	3: 55,557,165 (GRCm39)	N2537K	probably benign	Het
Ncapd3	A	G	9: 26,967,349 (GRCm39)	S562G	probably benign	Het
Or5t5	A	C	2: 86,617,005 (GRCm39)	K310N	probably damaging	Het
Or6c1b	C	A	10: 129,272,967 (GRCm39)	C95*	probably null	Het
Pcdhac2	A	G	18: 37,277,628 (GRCm39)	S203G	probably benign	Het
Pds5a	A	T	5: 65,812,196 (GRCm39)	F309I	probably benign	Het
Pdzd8	G	A	19: 59,333,683 (GRCm39)	L113F	probably benign	Het
Pex12	T	C	11: 83,189,257 (GRCm39)	Y4C	possibly damaging	Het
Ppfibp2	A	G	7: 107,318,448 (GRCm39)	D332G	probably benign	Het
Psg23	A	T	7: 18,344,547 (GRCm39)	W303R	probably damaging	Het
Pyy	T	A	11: 101,998,099 (GRCm39)	D27V	probably damaging	Het
Rc3h1	A	G	1: 160,770,234 (GRCm39)	Q302R	probably damaging	Het
Rhoh	A	G	5: 66,049,656 (GRCm39)		probably benign	Het
Samd9l	A	G	6: 3,377,087 (GRCm39)	M58T	probably damaging	Het
Scaf11	A	C	15: 96,313,808 (GRCm39)	H1324Q	probably damaging	Het
Serinc2	C	A	4: 130,158,133 (GRCm39)	A105S	probably damaging	Het
Setx	A	T	2: 29,036,328 (GRCm39)	S938C	probably damaging	Het
Sgo2a	A	T	1: 58,056,737 (GRCm39)	T974S	probably damaging	Het
Sh3rf1	T	C	8: 61,679,348 (GRCm39)	V130A	probably benign	Het
Slc43a2	T	C	11: 75,434,112 (GRCm39)	F97L	probably damaging	Het
Slc9a9	C	A	9: 95,111,107 (GRCm39)	Q642K	probably benign	Het
Sox6	G	T	7: 115,076,225 (GRCm39)	D804E	probably benign	Het
Tbx15	A	T	3: 99,233,708 (GRCm39)	R290S	possibly damaging	Het
Tent4a	A	G	13: 69,655,199 (GRCm39)	L425P	probably damaging	Het
Terf2	A	G	8: 107,821,543 (GRCm39)	S176P	probably damaging	Het
Ttc6	A	T	12: 57,720,602 (GRCm39)	H956L	possibly damaging	Het
Tti2	T	C	8: 31,644,279 (GRCm39)	V292A	probably damaging	Het
Vmn1r29	A	T	6: 58,284,739 (GRCm39)	E153V	probably benign	Het
Vmn1r55	G	T	7: 5,149,669 (GRCm39)	H251Q	probably benign	Het
Yeats4	T	C	10: 117,051,586 (GRCm39)	T224A	probably benign	Het
Yipf4	T	A	17: 74,806,078 (GRCm39)	F239Y	probably benign	Het
Zan	T	C	5: 137,466,717 (GRCm39)	D380G	probably damaging	Het
Zbtb9	T	C	17: 27,193,894 (GRCm39)	F433S	probably damaging	Het
Zic5	T	C	14: 122,701,435 (GRCm39)	K432R	unknown	Het

Other mutations in Camk1g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Camk1g	APN	1	193,029,657 (GRCm39)	unclassified	probably benign
IGL02637:Camk1g	APN	1	193,030,696 (GRCm39)	missense	probably benign	0.38
G1patch:Camk1g	UTSW	1	193,032,628 (GRCm39)	missense	possibly damaging	0.80
I2288:Camk1g	UTSW	1	193,033,414 (GRCm39)	splice site	probably benign
R0375:Camk1g	UTSW	1	193,038,709 (GRCm39)	splice site	probably benign
R0433:Camk1g	UTSW	1	193,036,366 (GRCm39)	missense	probably damaging	0.99
R0967:Camk1g	UTSW	1	193,032,604 (GRCm39)	missense	probably damaging	1.00
R1161:Camk1g	UTSW	1	193,030,662 (GRCm39)	missense	probably benign
R1227:Camk1g	UTSW	1	193,029,741 (GRCm39)	missense	possibly damaging	0.73
R1469:Camk1g	UTSW	1	193,044,399 (GRCm39)	missense	possibly damaging	0.89
R1469:Camk1g	UTSW	1	193,044,399 (GRCm39)	missense	possibly damaging	0.89
R1641:Camk1g	UTSW	1	193,038,665 (GRCm39)	missense	probably benign	0.25
R3109:Camk1g	UTSW	1	193,037,301 (GRCm39)	missense	probably damaging	1.00
R3160:Camk1g	UTSW	1	193,042,115 (GRCm39)	missense	possibly damaging	0.66
R3161:Camk1g	UTSW	1	193,042,115 (GRCm39)	missense	possibly damaging	0.66
R3162:Camk1g	UTSW	1	193,042,115 (GRCm39)	missense	possibly damaging	0.66
R3162:Camk1g	UTSW	1	193,042,115 (GRCm39)	missense	possibly damaging	0.66
R4638:Camk1g	UTSW	1	193,038,667 (GRCm39)	missense	probably damaging	1.00
R4642:Camk1g	UTSW	1	193,038,667 (GRCm39)	missense	probably damaging	1.00
R4644:Camk1g	UTSW	1	193,038,667 (GRCm39)	missense	probably damaging	1.00
R4756:Camk1g	UTSW	1	193,044,393 (GRCm39)	missense	probably benign	0.03
R4781:Camk1g	UTSW	1	193,038,652 (GRCm39)	missense	probably benign	0.00
R4987:Camk1g	UTSW	1	193,030,783 (GRCm39)	missense	probably damaging	0.99
R5224:Camk1g	UTSW	1	193,037,342 (GRCm39)	missense	probably damaging	1.00
R5407:Camk1g	UTSW	1	193,029,680 (GRCm39)	splice site	probably null
R5932:Camk1g	UTSW	1	193,036,347 (GRCm39)	missense	probably benign	0.25
R6725:Camk1g	UTSW	1	193,032,628 (GRCm39)	missense	possibly damaging	0.80
R7071:Camk1g	UTSW	1	193,042,117 (GRCm39)	missense	probably benign	0.10
R7808:Camk1g	UTSW	1	193,032,593 (GRCm39)	missense	possibly damaging	0.51
R7908:Camk1g	UTSW	1	193,042,082 (GRCm39)	missense	probably damaging	1.00
R8135:Camk1g	UTSW	1	193,036,335 (GRCm39)	missense	possibly damaging	0.79
R8355:Camk1g	UTSW	1	193,033,355 (GRCm39)	missense	probably damaging	1.00
R8737:Camk1g	UTSW	1	193,030,794 (GRCm39)	critical splice acceptor site	probably null
R8811:Camk1g	UTSW	1	193,044,408 (GRCm39)	missense	probably damaging	1.00
R9506:Camk1g	UTSW	1	193,030,363 (GRCm39)	critical splice donor site	probably null
R9680:Camk1g	UTSW	1	193,030,483 (GRCm39)	missense	probably benign	0.00
Z1176:Camk1g	UTSW	1	193,044,408 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGAAGGCTTGCTGAGGAAG -3'
(R):5'- AACTCAACATGGCCCTGCATG -3'

Sequencing Primer
(F):5'- AGAGGCTGCTGGGTTCC -3'
(R):5'- TGCATGCACAGAGCCCTG -3'

Posted On

2022-10-06