Mutagenetix > Incidental Mutation

Incidental Mutation 'R9680:Camk1g'

728455

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 #

R9680 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

193028654-193052606 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 193030483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 409 (Q409K)

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 benign
Transcript: ENSMUST00000016323
AA Change: Q409K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000016323
Gene: ENSMUSG00000016179
AA Change: Q409K

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: 99.7%
20x: 99.1%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	T	A	8: 41,208,239 (GRCm39)	Y502N	probably damaging	Het
Adam6a	T	A	12: 113,509,484 (GRCm39)	L619*	probably null	Het
Akap9	A	T	5: 4,011,587 (GRCm39)	R763S	probably benign	Het
Akt3	G	A	1: 176,958,639 (GRCm39)	P24S	probably damaging	Het
Ano2	A	T	6: 125,857,382 (GRCm39)		probably null	Het
B4galnt4	G	A	7: 140,647,957 (GRCm39)	R491Q	possibly damaging	Het
Bahcc1	A	G	11: 120,163,286 (GRCm39)	D528G	possibly damaging	Het
Cdh3	T	A	8: 107,274,396 (GRCm39)	N638K	probably benign	Het
Cgnl1	T	A	9: 71,562,632 (GRCm39)	E882D	possibly damaging	Het
Cplane1	A	G	15: 8,231,785 (GRCm39)	N1077S	possibly damaging	Het
Cpxm2	C	T	7: 131,661,651 (GRCm39)	E379K	probably damaging	Het
Cyp3a16	A	G	5: 145,389,690 (GRCm39)	L225P	probably damaging	Het
Dchs1	T	C	7: 105,411,625 (GRCm39)	E1497G	probably damaging	Het
Denr	T	A	5: 124,065,117 (GRCm39)	S157T	possibly damaging	Het
Disp3	A	G	4: 148,356,101 (GRCm39)	I253T	probably damaging	Het
Dlgap2	C	T	8: 14,896,653 (GRCm39)	T1043M	probably damaging	Het
Epb41l5	T	C	1: 119,535,804 (GRCm39)	T355A	probably damaging	Het
Etv6	G	A	6: 134,013,062 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,310,484 (GRCm39)	I141V	probably benign	Het
Fsip2	T	G	2: 82,819,272 (GRCm39)	S5002A	probably benign	Het
Gbf1	T	G	19: 46,271,837 (GRCm39)	V1576G	probably damaging	Het
Gmfg	T	A	7: 28,140,733 (GRCm39)		probably null	Het
Gsdmc4	T	C	15: 63,774,706 (GRCm39)	E25G	possibly damaging	Het
Igkv6-23	A	T	6: 70,237,884 (GRCm39)	L12M	possibly damaging	Het
Kank1	G	A	19: 25,388,138 (GRCm39)	V604M	probably damaging	Het
Kctd1	A	G	18: 15,140,822 (GRCm39)	V40A	probably damaging	Het
Krt222	T	C	11: 99,127,065 (GRCm39)	K185R	possibly damaging	Het
Ldc1	A	G	4: 130,115,527 (GRCm39)	V7A	probably benign	Het
Lipm	T	C	19: 34,089,494 (GRCm39)	F151L	probably damaging	Het
Lrrc2	A	T	9: 110,791,710 (GRCm39)	N154I	probably damaging	Het
Map1a	T	A	2: 121,132,865 (GRCm39)	M1227K	probably damaging	Het
Med1	T	C	11: 98,071,114 (GRCm39)	T78A	probably damaging	Het
Mrm1	A	G	11: 84,710,144 (GRCm39)	S19P	possibly damaging	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Nap1l1	A	G	10: 111,330,657 (GRCm39)	Y354C	probably damaging	Het
Npr1	A	G	3: 90,368,448 (GRCm39)	V474A	probably benign	Het
Nyap1	A	T	5: 137,733,840 (GRCm39)	S398T	probably damaging	Het
Obox7	C	T	7: 14,398,067 (GRCm39)	Q36*	probably null	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Or6c8	A	T	10: 128,915,358 (GRCm39)	I158N	probably benign	Het
P3h1	T	A	4: 119,090,428 (GRCm39)	L92H	probably benign	Het
Pappa2	T	C	1: 158,609,818 (GRCm39)	T1548A	possibly damaging	Het
Pnisr	A	G	4: 21,873,586 (GRCm39)	E443G	probably damaging	Het
Prdm2	A	G	4: 142,859,079 (GRCm39)	S1404P	possibly damaging	Het
Prom1	A	T	5: 44,190,284 (GRCm39)		probably null	Het
Rbm27	A	T	18: 42,455,186 (GRCm39)	Q646H	probably damaging	Het
Scamp3	C	T	3: 89,087,561 (GRCm39)	R134*	probably null	Het
Scrt2	T	C	2: 151,924,018 (GRCm39)	C17R	probably benign	Het
Setbp1	A	G	18: 78,902,498 (GRCm39)	S390P	probably benign	Het
Shank2	A	T	7: 143,964,837 (GRCm39)	D815V	probably damaging	Het
Sirt7	G	A	11: 120,511,296 (GRCm39)	T285M		Het
Sis	T	G	3: 72,863,621 (GRCm39)	S206R	probably benign	Het
Slc24a4	T	G	12: 102,193,334 (GRCm39)	D206E	possibly damaging	Het
Slc26a4	C	A	12: 31,585,292 (GRCm39)	G501C	probably damaging	Het
Sptb	T	C	12: 76,677,489 (GRCm39)	N115S	probably damaging	Het
Srprb	T	C	9: 103,074,807 (GRCm39)	T112A	possibly damaging	Het
Tbk1	G	T	10: 121,389,841 (GRCm39)	A537E	probably benign	Het
Tbx19	T	A	1: 164,970,067 (GRCm39)	H274L	probably damaging	Het
Tmem130	A	G	5: 144,674,233 (GRCm39)	S394P	probably damaging	Het
Tmem40	A	G	6: 115,718,517 (GRCm39)	S104P	possibly damaging	Het
Tmprss2	T	A	16: 97,379,826 (GRCm39)	Q158L	probably damaging	Het
Tnip1	A	T	11: 54,828,876 (GRCm39)	V97D	possibly damaging	Het
Tpr	T	A	1: 150,314,887 (GRCm39)	S1985T	probably benign	Het
Traf7	CA	CAA	17: 24,746,737 (GRCm39)		probably benign	Het
Trio	G	T	15: 27,744,158 (GRCm39)	N2591K	possibly damaging	Het
Ushbp1	A	T	8: 71,838,573 (GRCm39)	C618S	possibly damaging	Het
Usp34	A	G	11: 23,317,385 (GRCm39)	S834G	possibly damaging	Het
Vmn2r103	C	A	17: 20,019,525 (GRCm39)	C536*	probably null	Het
Vmn2r124	T	A	17: 18,293,758 (GRCm39)	V615D	probably damaging	Het
Zbtb38	G	A	9: 96,570,397 (GRCm39)	T229I	probably benign	Het
Zfhx4	T	A	3: 5,465,656 (GRCm39)	V1963E	probably damaging	Het
Zfp142	G	A	1: 74,610,933 (GRCm39)	T954M	probably benign	Het
Zgrf1	A	G	3: 127,409,216 (GRCm39)	Y1730C	probably benign	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
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'- GCTACCTATTAGTGGACCTGGC -3'
(R):5'- ATGACAGCTCCATCACAGAGG -3'

Sequencing Primer
(F):5'- TGCAGTCACATTCTTCAGCAAG -3'
(R):5'- ACAGAGGCCCCCATCCTG -3'

Posted On

2022-10-06