Mutagenetix > Incidental Mutation

Incidental Mutation 'R7072:Ccdc33'

548968

Institutional Source

Beutler Lab

Gene Symbol

Ccdc33

Ensembl Gene

ENSMUSG00000037716

Gene Name

coiled-coil domain containing 33

Synonyms

LOC382077, 4930535E21Rik

MMRRC Submission

045168-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7072 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58028677-58118823 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 58111984 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 279 (*279R)

Ref Sequence

ENSEMBL: ENSMUSP00000096278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098681] [ENSMUST00000098682] [ENSMUST00000128021] [ENSMUST00000136154] [ENSMUST00000215944]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000098681
AA Change: *279R

Predicted Effect

probably benign
Transcript: ENSMUST00000098682

SMART Domains

Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716

Domain	Start	End	E-Value	Type
C2	281	385	5.79e-3	SMART
coiled coil region	598	636	N/A	INTRINSIC
coiled coil region	657	745	N/A	INTRINSIC
coiled coil region	884	922	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128021

SMART Domains

Protein: ENSMUSP00000117832
Gene: ENSMUSG00000032327

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	40	87	8.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136154

SMART Domains

Protein: ENSMUSP00000119062
Gene: ENSMUSG00000032327

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	40	199	1.7e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215944

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,173,943	L2214Q	probably damaging	Het
Acbd3	T	C	1: 180,726,369	F90L	probably benign	Het
Ahnak2	T	A	12: 112,788,166	Q23L		Het
Anpep	A	T	7: 79,835,379	L620I	possibly damaging	Het
Bpi	T	C	2: 158,272,078	S299P	probably damaging	Het
Bpifa2	A	G	2: 154,011,373	D132G	probably damaging	Het
Brd7	T	A	8: 88,346,987	E258D	probably benign	Het
Btc	T	C	5: 91,402,937		probably benign	Het
Cacna1c	A	G	6: 118,596,106	V2039A		Het
Calm4	T	A	13: 3,838,275	V127E	probably benign	Het
Casp8ap2	T	A	4: 32,644,766	S1280T	probably damaging	Het
Cc2d2b	T	C	19: 40,760,359	V80A	unknown	Het
Cercam	T	A	2: 29,881,924	H585Q	probably benign	Het
Cnnm1	A	G	19: 43,440,857	D138G	probably benign	Het
Cox4i2	T	C	2: 152,760,653	F89S	probably damaging	Het
Crb1	G	A	1: 139,237,275	T1098I	probably damaging	Het
Csnk1e	C	T	15: 79,438,767		probably null	Het
Ctsj	C	A	13: 61,003,083	E187*	probably null	Het
D730001G18Rik	C	T	15: 74,772,270	V66M		Het
Dagla	A	T	19: 10,256,295		probably null	Het
Dnah7a	G	A	1: 53,419,753	T3742I	probably benign	Het
Dnajc6	A	C	4: 101,615,615	H381P	probably damaging	Het
Dyrk3	A	T	1: 131,129,728	L236Q	probably damaging	Het
Edc4	T	A	8: 105,888,002	D105E	probably damaging	Het
Frmd5	A	T	2: 121,557,870	L241Q	probably damaging	Het
Gcc2	A	G	10: 58,270,927	T662A	probably benign	Het
Gins1	C	T	2: 150,909,751		probably null	Het
Gli3	T	A	13: 15,725,695	N1222K	possibly damaging	Het
Gm15922	C	G	7: 3,737,320	A301P	probably damaging	Het
Gm4302	G	T	10: 100,341,659	Q268H	unknown	Het
Grin2d	A	T	7: 45,857,498	W518R	probably damaging	Het
Grm5	A	T	7: 88,074,304	I601F	probably damaging	Het
Gtpbp10	A	T	5: 5,546,365	N193K	probably benign	Het
Igdcc4	T	G	9: 65,130,731	V798G	probably damaging	Het
Igkv8-19	A	T	6: 70,341,412	F13I	probably benign	Het
Kctd11	T	A	11: 69,879,795	N139I	probably benign	Het
Lmo7	G	A	14: 101,898,700		probably null	Het
Lrrk2	A	T	15: 91,801,920	M2155L	probably benign	Het
Mettl24	A	C	10: 40,683,513	H53P	probably benign	Het
Mier2	A	G	10: 79,540,299	M264T	unknown	Het
Mplkip	T	C	13: 17,695,537	I18T	unknown	Het
Mtmr2	T	C	9: 13,788,620	V101A	probably benign	Het
Nbeal2	G	T	9: 110,626,051	T2593K	probably benign	Het
Neu3	A	T	7: 99,814,197	C106*	probably null	Het
Nutm1	T	C	2: 112,251,847	T295A	probably benign	Het
Olfr753-ps1	A	G	17: 37,170,378	I90T	probably benign	Het
Pcdhga7	G	T	18: 37,717,276	V779L	probably benign	Het
Pde10a	A	G	17: 8,943,026	E231G	probably benign	Het
Plcg2	T	A	8: 117,589,835		probably null	Het
Pofut2	T	C	10: 77,259,429	L36P	probably benign	Het
Pou6f2	T	C	13: 18,125,169	N635S		Het
Pramef17	A	C	4: 143,994,128	I81R	probably damaging	Het
Ptpra	T	C	2: 130,553,430	Y818H	probably damaging	Het
Rad18	T	C	6: 112,681,440	E168G	probably benign	Het
Rev1	C	A	1: 38,067,545	E634*	probably null	Het
Sec24d	A	G	3: 123,330,351	D403G	probably damaging	Het
Sema5a	C	A	15: 32,574,959	H404Q	possibly damaging	Het
Shank1	A	G	7: 44,344,946	S844G	unknown	Het
Slc32a1	T	A	2: 158,611,496	Y85*	probably null	Het
Slc39a4	T	C	15: 76,613,258	T485A	probably damaging	Het
Sp5	A	C	2: 70,476,730	Q253P	probably benign	Het
Sspo	A	T	6: 48,454,979	D709V	probably damaging	Het
Sucnr1	A	G	3: 60,086,183	Y44C	probably damaging	Het
Taar8b	A	G	10: 24,091,978	L106P	possibly damaging	Het
Tbc1d9	A	G	8: 83,264,865	D922G	probably damaging	Het
Tbx6	A	T	7: 126,784,740	D322V	probably benign	Het
Tex15	T	A	8: 33,575,431	S1630T	possibly damaging	Het
Ube2o	G	A	11: 116,541,501	P880S	probably benign	Het
Uck1	C	T	2: 32,258,166	R182Q	probably damaging	Het
Utrn	T	A	10: 12,465,213	H2840L	probably damaging	Het
Vps8	A	G	16: 21,581,579	T1266A	probably benign	Het
Wnk1	A	T	6: 119,937,861	I1909N	unknown	Het
Zfp352	C	T	4: 90,224,424	T267I	probably benign	Het
Zfp773	A	T	7: 7,132,875	C241S	probably benign	Het
Zfp934	T	C	13: 62,520,525	D8G	probably damaging	Het

Other mutations in Ccdc33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Ccdc33	APN	9	58069974	splice site	probably benign
IGL01403:Ccdc33	APN	9	58117385	missense	probably damaging	1.00
IGL01411:Ccdc33	APN	9	58117636	splice site	probably benign
IGL01714:Ccdc33	APN	9	58029870	missense	possibly damaging	0.91
IGL02028:Ccdc33	APN	9	58076578	missense	probably benign	0.13
IGL02158:Ccdc33	APN	9	58030419	missense	probably damaging	0.99
IGL02174:Ccdc33	APN	9	58033655	missense	probably benign	0.45
IGL02805:Ccdc33	APN	9	58098591	missense	probably benign	0.43
R0276:Ccdc33	UTSW	9	58058392	missense	probably damaging	0.99
R0537:Ccdc33	UTSW	9	58117454	missense	probably damaging	1.00
R0737:Ccdc33	UTSW	9	58082048	missense	probably damaging	0.99
R0789:Ccdc33	UTSW	9	58117214	splice site	probably benign
R0791:Ccdc33	UTSW	9	58028763	missense	possibly damaging	0.66
R0920:Ccdc33	UTSW	9	58033672	missense	probably damaging	0.99
R1541:Ccdc33	UTSW	9	58117466	missense	probably damaging	0.99
R1759:Ccdc33	UTSW	9	58117446	missense	possibly damaging	0.84
R1857:Ccdc33	UTSW	9	58032708	missense	possibly damaging	0.66
R1976:Ccdc33	UTSW	9	58117162	nonsense	probably null
R1982:Ccdc33	UTSW	9	58117168	missense	probably benign	0.07
R2044:Ccdc33	UTSW	9	58031112	missense	possibly damaging	0.93
R2224:Ccdc33	UTSW	9	58082022	missense	probably damaging	1.00
R2225:Ccdc33	UTSW	9	58082022	missense	probably damaging	1.00
R2227:Ccdc33	UTSW	9	58082022	missense	probably damaging	1.00
R2369:Ccdc33	UTSW	9	58076630	missense	probably benign	0.44
R3899:Ccdc33	UTSW	9	58032917	missense	probably damaging	0.99
R4468:Ccdc33	UTSW	9	58029952	missense	possibly damaging	0.93
R4468:Ccdc33	UTSW	9	58069872	missense	possibly damaging	0.67
R4703:Ccdc33	UTSW	9	58033670	missense	possibly damaging	0.86
R4705:Ccdc33	UTSW	9	58117557	missense	probably benign	0.01
R4790:Ccdc33	UTSW	9	58029957	missense	probably damaging	0.96
R4817:Ccdc33	UTSW	9	58067535	missense	probably damaging	0.98
R4879:Ccdc33	UTSW	9	58067556	missense	possibly damaging	0.86
R4931:Ccdc33	UTSW	9	58069851	missense	probably damaging	1.00
R5015:Ccdc33	UTSW	9	58118635	missense	probably damaging	1.00
R5223:Ccdc33	UTSW	9	58032984	missense	possibly damaging	0.91
R5327:Ccdc33	UTSW	9	58086577	missense	probably benign	0.00
R5528:Ccdc33	UTSW	9	58028795	missense	probably benign	0.06
R5534:Ccdc33	UTSW	9	58117167	missense	possibly damaging	0.83
R5786:Ccdc33	UTSW	9	58029952	missense	possibly damaging	0.93
R5844:Ccdc33	UTSW	9	58033206	splice site	probably benign
R5975:Ccdc33	UTSW	9	58117478	missense	possibly damaging	0.49
R6120:Ccdc33	UTSW	9	58086600	missense	probably damaging	1.00
R6256:Ccdc33	UTSW	9	58101918	splice site	probably null
R6363:Ccdc33	UTSW	9	58114335	missense	probably benign	0.00
R6610:Ccdc33	UTSW	9	58069136	missense	possibly damaging	0.66
R6767:Ccdc33	UTSW	9	58033244	missense	possibly damaging	0.96
R7121:Ccdc33	UTSW	9	58080884	missense	probably benign	0.00
R7182:Ccdc33	UTSW	9	58034173	splice site	probably null
R7239:Ccdc33	UTSW	9	58032909	nonsense	probably null
R7655:Ccdc33	UTSW	9	58118465	missense	probably damaging	0.97
R7656:Ccdc33	UTSW	9	58118465	missense	probably damaging	0.97
R7868:Ccdc33	UTSW	9	58069091	missense	probably benign
R8215:Ccdc33	UTSW	9	58032712	missense	probably benign	0.18
R9139:Ccdc33	UTSW	9	58076559	missense	probably benign	0.04
R9204:Ccdc33	UTSW	9	58031105	missense	probably benign	0.33
R9280:Ccdc33	UTSW	9	58058266	missense	probably benign
R9297:Ccdc33	UTSW	9	58086593	missense	possibly damaging	0.85
R9318:Ccdc33	UTSW	9	58086593	missense	possibly damaging	0.85
R9361:Ccdc33	UTSW	9	58117625	missense	possibly damaging	0.96
R9664:Ccdc33	UTSW	9	58086572	missense	possibly damaging	0.85
RF003:Ccdc33	UTSW	9	58058291	missense	probably benign	0.18
Z1176:Ccdc33	UTSW	9	58117416	missense	probably benign	0.01
Z1177:Ccdc33	UTSW	9	58118585	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- AGCATTTCTCATTGGGGAGAC -3'
(R):5'- TAGGCCCTTGGAATCTTGTCG -3'

Sequencing Primer
(F):5'- ATCTTGTTTTCTAGGTGCAGAAACG -3'
(R):5'- AATCTTGTCGTGGGGGCCC -3'

Posted On

2019-05-15