Mutagenetix > Incidental Mutation

Incidental Mutation 'R9204:Ccdc33'

698389

Institutional Source

Beutler Lab

Gene Symbol

Ccdc33

Ensembl Gene

ENSMUSG00000037716

Gene Name

coiled-coil domain containing 33

Synonyms

LOC382077, 4930535E21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9204 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58028677-58118823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58031105 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 861 (V861A)

Ref Sequence

ENSEMBL: ENSMUSP00000096279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034874] [ENSMUST00000042205] [ENSMUST00000098682] [ENSMUST00000119665] [ENSMUST00000215944]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034874

SMART Domains

Protein: ENSMUSP00000034874
Gene: ENSMUSG00000032323

Domain	Start	End	E-Value	Type
low complexity region	30	41	N/A	INTRINSIC
Pfam:p450	49	507	1.8e-120	PFAM

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
AA Change: V861A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: V861A

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

probably benign
Transcript: ENSMUST00000215944

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	T	A	7: 127,385,160	I257L	unknown	Het
9930021J03Rik	A	G	19: 29,719,538	S852P	possibly damaging	Het
Aadat	T	C	8: 60,543,532	V389A	possibly damaging	Het
Adgrl1	T	C	8: 83,933,890	F792S	probably benign	Het
Angptl2	A	T	2: 33,228,330	I39F	probably benign	Het
Aprt	A	G	8: 122,576,616	I29T	probably damaging	Het
Arhgap21	A	T	2: 20,881,005	S464T	probably damaging	Het
Atic	T	C	1: 71,564,477	Y151H	probably damaging	Het
BB014433	T	C	8: 15,042,623	T77A	unknown	Het
Boc	C	A	16: 44,487,714	C926F		Het
Cabin1	C	T	10: 75,694,716	R1544Q	probably benign	Het
Ccdc88c	T	C	12: 100,938,063	T230A	unknown	Het
Cdc42bpa	T	A	1: 180,111,895		probably null	Het
Chrnb2	T	C	3: 89,760,821	M396V	probably benign	Het
Chst2	A	G	9: 95,405,102	V397A	probably damaging	Het
Cit	T	A	5: 115,988,439	N1643K	probably damaging	Het
Ckb	T	A	12: 111,671,435	D113V	probably benign	Het
Cyp2c68	A	T	19: 39,739,127	M136K	probably damaging	Het
Epas1	G	T	17: 86,809,445	R181L	probably damaging	Het
Flnc	A	C	6: 29,452,354	I1726L	possibly damaging	Het
Fras1	G	A	5: 96,735,163	R2518H	probably damaging	Het
Gid4	T	C	11: 60,417,828	V58A	probably benign	Het
Hmcn1	T	A	1: 150,734,511	N1469I	probably benign	Het
Hmcn2	A	G	2: 31,388,365	E1693G	probably damaging	Het
Irx4	C	G	13: 73,268,530	C348W	probably damaging	Het
Lrig2	A	G	3: 104,480,122	S410P	possibly damaging	Het
Lsm11	A	G	11: 45,933,962	V246A	probably benign	Het
Ltbp1	G	T	17: 75,363,430	V1489F	probably damaging	Het
Mc2r	T	C	18: 68,407,596	T209A	probably benign	Het
Mms22l	T	C	4: 24,581,153	L821P	probably damaging	Het
Mtus2	A	T	5: 148,301,483	E1206V	probably damaging	Het
Muc5b	T	A	7: 141,856,392	H1234Q	unknown	Het
Naip5	A	T	13: 100,222,500	F743I	probably damaging	Het
Nphp3	G	A	9: 104,042,106	V1318I	probably benign	Het
Olfr1257	T	G	2: 89,881,138	L104W	probably damaging	Het
Olfr484	A	T	7: 108,124,728	N178K	possibly damaging	Het
Olfr628	A	G	7: 103,732,849	K308E	possibly damaging	Het
Olfr826	G	C	10: 130,180,697	P61R	probably damaging	Het
Olfr844	T	C	9: 19,318,699	L61P	probably damaging	Het
Olfr878	C	A	9: 37,919,374	T239K	probably damaging	Het
Paqr5	G	A	9: 61,961,544	R246C	probably benign	Het
Pdgfb	T	C	15: 80,001,755	Q128R	probably damaging	Het
Prr3	T	A	17: 35,974,727	I88F	possibly damaging	Het
Ptprd	C	G	4: 75,954,078	A1134P	possibly damaging	Het
R3hcc1l	G	A	19: 42,563,862	D433N	probably benign	Het
Scnn1b	A	T	7: 121,899,299	T21S	probably benign	Het
Smcr8	A	G	11: 60,778,031	I2V	probably damaging	Het
Stk33	T	C	7: 109,341,479	D8G	probably benign	Het
Tbc1d22a	T	C	15: 86,214,602	F10L	probably benign	Het
Tmem126a	T	A	7: 90,452,818	I58F	possibly damaging	Het
Ttf2	T	C	3: 100,962,564	K398E	probably benign	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Usp53	G	T	3: 122,947,419	N727K	probably benign	Het
Vmn2r25	T	G	6: 123,853,133	I20L	probably benign	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
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
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'- ATACATGGTATGTGGTTAAACTGGAGG -3'
(R):5'- ACCTTCTGGGATTGGTGCAG -3'

Sequencing Primer
(F):5'- GGTCTTTTGTAGCATAAAGGCTCATC -3'
(R):5'- AGCCTTGGAGAGCCCTTTTC -3'

Posted On

2022-02-07