Mutagenetix > Incidental Mutations

Incidental Mutation 'R7239:Ccdc33'

563085

Institutional Source

Beutler Lab

Gene Symbol

Ccdc33

Ensembl Gene

ENSMUSG00000037716

Gene Name

coiled-coil domain containing 33

Synonyms

LOC382077, 4930535E21Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7239 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58028677-58118823 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 58032909 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 713 (Q713*)

Ref Sequence

ENSEMBL: ENSMUSP00000096279 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000042205
AA Change: Q528*

SMART Domains

Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: Q528*

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 null
Transcript: ENSMUST00000098682
AA Change: Q713*

SMART Domains

Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: Q713*

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 null
Transcript: ENSMUST00000119665
AA Change: Q527*

SMART Domains

Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: Q527*

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

probably null
Transcript: ENSMUST00000215944
AA Change: Q713*

Meta Mutation Damage Score

0.9752

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (76/77)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	A	G	16: 21,653,518	V144A	probably damaging	Het
4930402H24Rik	C	A	2: 130,806,788	R258L	unknown	Het
Abca5	A	T	11: 110,326,704	Y109N	possibly damaging	Het
Abcb5	T	C	12: 118,928,725	Q433R	probably benign	Het
Adamts7	G	A	9: 90,186,557		probably null	Het
Adgrv1	T	C	13: 81,476,612	D3746G	possibly damaging	Het
Arhgap29	C	T	3: 121,988,950	S159L	probably benign	Het
Arhgap5	T	A	12: 52,517,376	C377S	probably benign	Het
Atp1a3	G	A	7: 25,000,704	P77L	probably damaging	Het
B4galt1	T	C	4: 40,812,754	D257G	probably damaging	Het
Bin1	T	A	18: 32,406,171	N52K	probably damaging	Het
Catsperg2	A	G	7: 29,710,082	M562T	probably benign	Het
Cd96	A	T	16: 46,109,114	L156Q	probably damaging	Het
Clpb	A	G	7: 101,711,455	T231A	probably damaging	Het
Dnmt3a	A	T	12: 3,872,850	Q151L	probably benign	Het
Dock2	C	T	11: 34,231,677	V1629M	probably benign	Het
Edem1	G	A	6: 108,854,380	D601N	probably benign	Het
Eno2	C	T	6: 124,768,265	V20M	probably damaging	Het
Eny2	A	C	15: 44,433,854	D52A	probably benign	Het
Esp36	T	C	17: 38,417,241	R93G	possibly damaging	Het
Fam227a	A	G	15: 79,634,062		probably null	Het
Fat4	C	A	3: 38,983,840	H3880Q	possibly damaging	Het
Fbxw24	A	T	9: 109,605,530	V334E	possibly damaging	Het
Flrt1	T	C	19: 7,095,964	Q406R	probably benign	Het
Frmpd2	A	G	14: 33,552,077	N1092S	probably benign	Het
Gm904	C	A	13: 50,645,251	T82K	probably benign	Het
Gnas	G	C	2: 174,298,615	G252R	unknown	Het
Gpatch2l	A	G	12: 86,260,575		probably null	Het
Hist1h2ac	A	T	13: 23,683,610	I103N	probably damaging	Het
Ift74	T	C	4: 94,652,950	V204A	probably benign	Het
Ikzf4	A	G	10: 128,641,244	L119P	probably damaging	Het
Ing3	G	A	6: 21,952,194	E56K	probably damaging	Het
Klhl25	T	C	7: 75,866,768	I474T	probably benign	Het
Klhl5	T	C	5: 65,161,186	V556A	probably damaging	Het
Krt14	A	T	11: 100,204,255	M382K	probably benign	Het
Lmcd1	T	C	6: 112,315,784	V199A	possibly damaging	Het
Lpcat4	T	A	2: 112,242,707	F200I	possibly damaging	Het
Lrp1b	T	C	2: 41,004,713	T2282A		Het
Lrrk1	T	C	7: 66,262,155	T1886A	probably benign	Het
Meis2	T	C	2: 116,059,003		probably null	Het
Mki67	C	T	7: 135,700,176	R1043K	possibly damaging	Het
Myct1	G	T	10: 5,604,601	R156L	possibly damaging	Het
Nckap5l	G	T	15: 99,426,209	H804Q	probably damaging	Het
Ndst3	T	G	3: 123,606,906	E450D	probably damaging	Het
Nipbl	A	T	15: 8,292,135		probably null	Het
Npy	A	G	6: 49,823,607	N4D	probably benign	Het
Olfr855	A	T	9: 19,585,191	Y218F	probably damaging	Het
Osgin2	T	C	4: 16,008,748	S18G	probably benign	Het
Pcdha9	T	G	18: 36,998,498	F207V	probably benign	Het
Pcdhb13	A	T	18: 37,444,644	I692F	probably damaging	Het
Pde3b	T	A	7: 114,416,149	V200E	probably damaging	Het
Ppp6r3	A	T	19: 3,493,981	L345I	probably benign	Het
Psd2	G	A	18: 35,980,419	A315T	probably damaging	Het
Rnf111	G	A	9: 70,469,373	T328I	probably damaging	Het
Rnf213	T	C	11: 119,458,788	L3825P		Het
Rtl1	C	T	12: 109,592,475	V977I	probably benign	Het
Scn1a	G	A	2: 66,277,656		probably null	Het
Slc25a2	G	T	18: 37,637,695	N260K	probably benign	Het
Sprtn	T	C	8: 124,900,244	V121A	probably damaging	Het
Ssx2ip	T	G	3: 146,428,016	L260W	probably damaging	Het
Syde1	G	A	10: 78,588,781	R406C	probably damaging	Het
Tab1	A	G	15: 80,133,171	R6G	probably benign	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Tenm4	G	A	7: 96,735,813	V526I	possibly damaging	Het
Tfap2b	T	C	1: 19,234,180	F405L	probably damaging	Het
Trbv13-1	C	A	6: 41,116,391	T87K	probably benign	Het
Trmt44	G	T	5: 35,574,786	A87E	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,399,157		probably null	Het
Ttn	T	C	2: 76,787,290	D16279G	probably damaging	Het
Ttn	G	A	2: 76,881,328	R8290C	unknown	Het
Ugt2b37	T	A	5: 87,254,731	I14L	probably benign	Het
Vmn1r13	A	T	6: 57,210,626	M257L	probably benign	Het
Vmn1r184	C	T	7: 26,267,177	P116L	possibly damaging	Het
Zfp426	T	C	9: 20,470,591	T367A	probably benign	Het
Zfp647	A	T	15: 76,911,756	C235S	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
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
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
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'- ACCCACCCATGATAGGCTTC -3'
(R):5'- GCTGGAGTAACTCTCATGGATC -3'

Sequencing Primer
(F):5'- CATGATAGGCTTCCCCTGTGG -3'
(R):5'- ATGGATCCCATGTGTGCCC -3'

Posted On

2019-06-26