Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02028:Ccdc33'

184272

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc33

Ensembl Gene

ENSMUSG00000037716

Gene Name

coiled-coil domain containing 33

Synonyms

LOC382077, 4930535E21Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02028

Quality Score

Status

Chromosome

Chromosomal Location

58028677-58118823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58076578 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 446 (N446S)

Ref Sequence

ENSEMBL: ENSMUSP00000149337 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042205] [ENSMUST00000098682] [ENSMUST00000119665] [ENSMUST00000128021] [ENSMUST00000136154] [ENSMUST00000215944]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000042205
AA Change: N237S

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: N237S

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: N446S

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: N446S

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
AA Change: N237S

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: N237S

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: 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

noncoding transcript
Transcript: ENSMUST00000145886

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146741

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151404

Predicted Effect

probably benign
Transcript: ENSMUST00000215944
AA Change: N446S

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	A	G	1: 60,434,283	Y53C	probably damaging	Het
Acacb	T	A	5: 114,166,015	D166E	probably damaging	Het
Akap8l	T	C	17: 32,338,521		probably null	Het
Arl6ip5	A	G	6: 97,229,650	Y97C	probably damaging	Het
Atad5	T	A	11: 80,134,110	S1772R	probably benign	Het
Ccdc106	A	G	7: 5,059,646	Q155R	probably damaging	Het
Cd3eap	T	C	7: 19,357,078	K368R	probably damaging	Het
Cdh2	T	C	18: 16,650,420	D84G	probably benign	Het
Cntn6	A	G	6: 104,859,426	K918E	probably damaging	Het
Dock6	T	C	9: 21,838,826	D521G	probably damaging	Het
Etv6	C	T	6: 134,248,733	A309V	probably benign	Het
Ezh1	G	T	11: 101,199,340	H529Q	probably damaging	Het
Figla	T	C	6: 86,017,363	L40P	probably damaging	Het
Gabra4	T	A	5: 71,633,596	Q301L	probably damaging	Het
Glt1d1	G	A	5: 127,706,920	V313M	possibly damaging	Het
Gm28778	T	A	1: 53,317,961	I94K	possibly damaging	Het
Gm4847	T	C	1: 166,642,196	K103E	probably benign	Het
Gne	A	G	4: 44,066,852	S23P	probably damaging	Het
Hipk2	A	G	6: 38,818,756	C186R	possibly damaging	Het
Lrp1b	C	T	2: 41,511,452	V283I	probably damaging	Het
Mcm10	A	T	2: 5,008,700	D40E	possibly damaging	Het
Morc2b	T	A	17: 33,137,413	I462F	possibly damaging	Het
Myh1	T	A	11: 67,210,615	I711N	probably damaging	Het
Oit3	A	G	10: 59,438,655	F108L	probably damaging	Het
Olfr1289	T	C	2: 111,483,471	F14L	probably benign	Het
Olfr913	T	A	9: 38,594,419	L66*	probably null	Het
Rbm19	A	G	5: 120,120,236	D172G	probably damaging	Het
Ribc2	A	G	15: 85,143,335	D339G	possibly damaging	Het
Rras2	C	A	7: 114,060,362	V56L	probably benign	Het
Scn2a	A	G	2: 65,763,658	E1617G	probably damaging	Het
Slc13a1	T	A	6: 24,118,031	M236L	probably benign	Het
Snrnp27	C	T	6: 86,682,973	R13H	unknown	Het
Srgap2	T	C	1: 131,296,435	K92E	probably damaging	Het
Suco	T	C	1: 161,856,859	K231E	possibly damaging	Het
Tll2	C	A	19: 41,098,649	E588*	probably null	Het
Tmem215	A	T	4: 40,473,940	I6L	possibly damaging	Het
Tnc	A	C	4: 63,966,672		probably benign	Het
Tob1	G	A	11: 94,214,226	G196D	probably benign	Het
Ubtfl1	T	A	9: 18,409,553	Y126N	possibly damaging	Het
Uck1	G	T	2: 32,258,137	Q192K	probably damaging	Het
Vdac3-ps1	A	G	13: 18,030,884		noncoding transcript	Het
Vmn1r88	C	T	7: 13,177,792	S25L	probably benign	Het
Vmn2r109	T	G	17: 20,541,080	I672L	probably benign	Het
Vmn2r23	T	C	6: 123,741,860	F724S	probably damaging	Het
Vmn2r54	A	T	7: 12,632,161	F282Y	probably damaging	Het
Vmn2r82	A	T	10: 79,379,223	I347F	probably benign	Het
Wasf2	G	A	4: 133,195,801	R474H	probably damaging	Het
Wdr60	C	A	12: 116,256,061	R87L	probably benign	Het
Zmym5	T	C	14: 56,804,160	H162R	possibly 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
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
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

Posted On

2014-05-07