Mutagenetix > Incidental Mutation

Incidental Mutation 'R8737:Camk1g'

663065

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

068584-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R8737 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

193028654-193052606 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 193030794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000016323

SMART Domains

Protein: ENSMUSP00000016323
Gene: ENSMUSG00000016179

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 benign
Transcript: ENSMUST00000169907

SMART Domains

Protein: ENSMUSP00000128143
Gene: ENSMUSG00000016179

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (67/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	T	A	1: 38,308,810 (GRCm39)	D375V	probably damaging	Het
Agfg1	C	G	1: 82,871,243 (GRCm39)	P492A	probably benign	Het
Asb13	T	C	13: 3,692,089 (GRCm39)	V23A	probably damaging	Het
Atxn1l	A	T	8: 110,460,230 (GRCm39)	C11S	probably damaging	Het
Bbs9	T	G	9: 22,590,244 (GRCm39)	S661A	probably benign	Het
Btrc	T	C	19: 45,496,198 (GRCm39)	V211A	probably damaging	Het
Capn11	A	T	17: 45,943,801 (GRCm39)	L578I	probably benign	Het
Cd82	A	T	2: 93,252,239 (GRCm39)	I124N	probably damaging	Het
Cdkl4	G	T	17: 80,858,258 (GRCm39)	H120Q	probably benign	Het
Cftr	T	C	6: 18,319,728 (GRCm39)	V1393A	probably damaging	Het
Col14a1	A	T	15: 55,318,706 (GRCm39)	R1402*	probably null	Het
Col6a3	T	G	1: 90,727,747 (GRCm39)	Y1960S	probably benign	Het
Col9a1	A	T	1: 24,224,127 (GRCm39)	Y103F	unknown	Het
Cux1	A	G	5: 136,311,796 (GRCm39)	V1180A	probably damaging	Het
Cyp17a1	A	T	19: 46,658,166 (GRCm39)	C249S	probably benign	Het
Derl1	A	T	15: 57,755,568 (GRCm39)	W42R	probably benign	Het
Dhx36	C	A	3: 62,386,747 (GRCm39)	M668I	probably benign	Het
Dnah6	T	C	6: 73,044,428 (GRCm39)	K3228E	possibly damaging	Het
Dst	C	T	1: 34,267,750 (GRCm39)	A3050V	probably benign	Het
Efr3b	A	G	12: 4,049,594 (GRCm39)	Y70H	probably damaging	Het
Epb42	T	A	2: 120,856,324 (GRCm39)	T407S	possibly damaging	Het
Fads2b	T	A	2: 85,324,387 (GRCm39)		probably benign	Het
Fap	T	A	2: 62,342,777 (GRCm39)	I608L	probably benign	Het
Fblim1	A	G	4: 141,310,387 (GRCm39)	Y292H	probably benign	Het
Fmod	A	G	1: 133,968,043 (GRCm39)	I28V	probably benign	Het
Gad2	T	A	2: 22,524,985 (GRCm39)	Y256*	probably null	Het
Gapdh	G	A	6: 125,139,017 (GRCm39)	A353V	probably benign	Het
Gm5460	T	G	14: 33,739,149 (GRCm39)	W44G	unknown	Het
Ino80e	A	T	7: 126,460,974 (GRCm39)	V91D	probably benign	Het
Iqgap2	G	A	13: 95,802,258 (GRCm39)	P896S	probably damaging	Het
Kif26b	T	A	1: 178,692,430 (GRCm39)	I457N	probably damaging	Het
Klc2	T	A	19: 5,168,477 (GRCm39)		probably benign	Het
Ldlrap1	C	A	4: 134,495,147 (GRCm39)	W22L	probably benign	Het
Matn3	A	G	12: 9,017,665 (GRCm39)	D439G	possibly damaging	Het
Met	T	C	6: 17,540,510 (GRCm39)	L812P	probably benign	Het
Mki67	A	T	7: 135,315,504 (GRCm39)	I90N	probably damaging	Het
Mptx2	A	C	1: 173,105,256 (GRCm39)	S12A	probably benign	Het
Mrgpra9	G	T	7: 46,885,624 (GRCm39)	N14K	probably benign	Het
Nbeal2	G	A	9: 110,456,949 (GRCm39)	R2350C	probably damaging	Het
Nsmaf	A	G	4: 6,396,748 (GRCm39)	I913T	probably benign	Het
Nuggc	G	T	14: 65,882,535 (GRCm39)	C760F	probably benign	Het
Or10a3m	T	A	7: 108,312,964 (GRCm39)	F135I	probably damaging	Het
Or1j13	T	A	2: 36,369,629 (GRCm39)	N171I	probably benign	Het
Or2y1f	T	A	11: 49,184,965 (GRCm39)	F272L	probably damaging	Het
Or4c110	C	A	2: 88,832,351 (GRCm39)	E94*	probably null	Het
Or51b6	A	G	7: 103,555,913 (GRCm39)	N86S		Het
Pdgfrb	C	T	18: 61,214,073 (GRCm39)	P953S	probably damaging	Het
Pemt	T	G	11: 59,874,285 (GRCm39)	I102L	probably benign	Het
Pla2g4c	G	T	7: 13,069,154 (GRCm39)	M109I	probably benign	Het
Pla2g4d	T	A	2: 120,100,466 (GRCm39)	Y622F	probably damaging	Het
Pmpca	T	A	2: 26,283,531 (GRCm39)	V400D	probably damaging	Het
Pnpt1	G	C	11: 29,104,815 (GRCm39)		probably null	Het
Pramel29	A	C	4: 143,935,192 (GRCm39)	L183R	probably damaging	Het
Prrc1	T	A	18: 57,496,408 (GRCm39)	S120T	possibly damaging	Het
Prrx2	T	G	2: 30,768,578 (GRCm39)	V135G	probably damaging	Het
Qrfprl	A	G	6: 65,433,260 (GRCm39)	K360R	probably benign	Het
Recql4	T	C	15: 76,593,054 (GRCm39)	N352S	probably benign	Het
Sftpa1	T	C	14: 40,856,044 (GRCm39)	S130P	probably damaging	Het
Slc35e2	T	C	4: 155,695,042 (GRCm39)	L136P	probably benign	Het
Tarbp2	T	A	15: 102,430,202 (GRCm39)	S155T	probably benign	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tmem116	A	T	5: 121,620,433 (GRCm39)	Y146F		Het
Ttc17	C	T	2: 94,206,374 (GRCm39)		probably null	Het
Vmn2r114	G	A	17: 23,529,142 (GRCm39)	T320I	probably benign	Het
Vmn2r69	A	T	7: 85,055,783 (GRCm39)	V785D	probably damaging	Het
Vmn2r89	T	A	14: 51,693,722 (GRCm39)	N357K	probably damaging	Het
Zfp811	A	T	17: 33,017,197 (GRCm39)	L281Q	possibly damaging	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
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
R9688:Camk1g	UTSW	1	193,031,029 (GRCm39)	missense	probably damaging	1.00
Z1176:Camk1g	UTSW	1	193,044,408 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACCAGGCAGTTGAGTGAG -3'
(R):5'- CCAGATTCAGAAGAACTTTGCC -3'

Sequencing Primer
(F):5'- AGTTGAGTGAGCGGCCAC -3'
(R):5'- TTCAGAAGAACTTTGCCAAGAGC -3'

Posted On

2021-03-08