Mutagenetix > Incidental Mutation

Incidental Mutation 'R5844:Ccdc33'

450601

Institutional Source

Beutler Lab

Gene Symbol

Ccdc33

Ensembl Gene

ENSMUSG00000037716

Gene Name

coiled-coil domain containing 33

Synonyms

LOC382077, 4930535E21Rik

MMRRC Submission

044062-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5844 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58028677-58118823 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 58033206 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149337 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042205] [ENSMUST00000098682] [ENSMUST00000119665] [ENSMUST00000215944]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000042205

SMART Domains

Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716

Domain	Start	End	E-Value	Type
C2	36	140	5.79e-3	SMART
coiled coil region	413	451	N/A	INTRINSIC
coiled coil region	472	560	N/A	INTRINSIC
coiled coil region	630	668	N/A	INTRINSIC

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: ENSMUST00000119665

SMART Domains

Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716

Domain	Start	End	E-Value	Type
C2	36	140	5.79e-3	SMART
coiled coil region	413	559	N/A	INTRINSIC
coiled coil region	629	667	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143797

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153106

Predicted Effect

probably benign
Transcript: ENSMUST00000215944

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	T	15: 82,065,864	M1321L	probably benign	Het
Adra1a	C	T	14: 66,727,734	T391I	probably benign	Het
Atf7ip	C	A	6: 136,606,814	A1281D	probably damaging	Het
BC005624	T	C	2: 30,976,011	N141S	probably benign	Het
Catsperg2	A	T	7: 29,697,832	L1082Q	possibly damaging	Het
Cavin2	C	T	1: 51,289,839	R152C	probably damaging	Het
Cfap43	T	C	19: 47,795,696	D466G	probably benign	Het
Cfap46	C	A	7: 139,650,942	M923I	probably damaging	Het
Chd1l	T	A	3: 97,572,567	K621N	probably benign	Het
Cnksr1	A	G	4: 134,228,264		probably benign	Het
Cym	T	C	3: 107,219,764	H25R	probably benign	Het
Dagla	T	A	19: 10,271,125	D57V	probably damaging	Het
Dnah3	TTCCTC	TTC	7: 119,951,021		probably benign	Het
Dse	T	A	10: 34,153,042	D684V	probably damaging	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Fbxo10	A	T	4: 45,058,760	S326T	probably benign	Het
Galntl5	G	T	5: 25,186,093		probably benign	Het
Grm5	A	G	7: 87,804,024	R290G	possibly damaging	Het
Gtpbp3	A	G	8: 71,492,555	T425A	probably benign	Het
Hepacam2	A	G	6: 3,476,073	I284T	probably damaging	Het
Ifi205	A	C	1: 174,026,692		probably null	Het
Irs3	T	C	5: 137,644,286	T297A	probably benign	Het
Kmt2d	G	A	15: 98,852,109		probably benign	Het
Map4k4	T	A	1: 39,999,876		probably benign	Het
Mfsd6	T	C	1: 52,658,383	S782G	probably benign	Het
Mis18a	G	A	16: 90,727,081		silent	Het
Mtpn	C	T	6: 35,512,290	D100N	probably benign	Het
Myom2	G	A	8: 15,131,182		probably null	Het
Olfr1002	A	G	2: 85,647,895	V142A	probably benign	Het
Olfr211	A	T	6: 116,493,939	E110V	probably damaging	Het
Pde3b	C	T	7: 114,508,871	T568I	probably benign	Het
Pkhd1	G	T	1: 20,381,461	D2203E	probably benign	Het
Ppp1r36	A	G	12: 76,426,792	K66E	possibly damaging	Het
Rfc1	C	A	5: 65,293,787	M319I	probably benign	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Runx1t1	T	C	4: 13,881,068	V456A	probably damaging	Het
Rxfp2	A	G	5: 150,043,124	K109R	probably benign	Het
Sgo2a	T	G	1: 58,016,397	V580G	probably damaging	Het
Skint9	T	C	4: 112,413,883	Q110R	probably benign	Het
Slc38a9	A	G	13: 112,731,501	Y507C	probably damaging	Het
Smarca4	T	A	9: 21,677,942		probably benign	Het
Tmem55b	T	C	14: 50,929,042	T160A	probably benign	Het
Tmem88	C	G	11: 69,397,678	Q138H	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tns3	A	C	11: 8,434,580	F1413V	probably damaging	Het
Trpm8	T	C	1: 88,384,711	*1105Q	probably null	Het
Wdyhv1	A	G	15: 58,153,660	N157S	probably benign	Het
Zfp853	C	T	5: 143,288,669	V399M	unknown	Het
Zim1	T	C	7: 6,678,116	R183G	probably benign	Het
Zmiz1	T	C	14: 25,656,930	S871P	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
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
R7072:Ccdc33	UTSW	9	58111984	makesense	probably null
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'- CATTCTTCTGCAGGGTGGAG -3'
(R):5'- AGAAAATCCTGGGCCAAGC -3'

Sequencing Primer
(F):5'- CAATGGGTACATGAGAGTTCCCC -3'
(R):5'- CAAGCCCTAGAGCTGAGGTG -3'

Posted On

2016-12-20