Mutagenetix > Incidental Mutations

Incidental Mutation 'R2227:Ccdc33'

239796

Institutional Source

Beutler Lab

Gene Symbol

Ccdc33

Ensembl Gene

ENSMUSG00000037716

Gene Name

coiled-coil domain containing 33

Synonyms

LOC382077, 4930535E21Rik

MMRRC Submission

040228-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2227 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58028677-58118823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58082022 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 123 (S123P)

Ref Sequence

ENSEMBL: ENSMUSP00000112613 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000042205
AA Change: S123P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: S123P

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

possibly damaging
Transcript: ENSMUST00000098682
AA Change: S368P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: S368P

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 damaging
Transcript: ENSMUST00000119665
AA Change: S123P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: S123P

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: ENSMUST00000123746

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

possibly damaging
Transcript: ENSMUST00000215944
AA Change: S368P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.2635

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563I02Rik	T	A	14: 60,088,219		probably benign	Het
Abtb1	A	C	6: 88,836,367	L439R	probably damaging	Het
Adcy10	A	G	1: 165,518,260	T293A	probably damaging	Het
Agl	A	T	3: 116,788,312	V306D	possibly damaging	Het
Alpk2	T	A	18: 65,378,076	T17S	probably damaging	Het
Ar	T	A	X: 98,151,331	M517K	probably benign	Het
Atg9b	A	G	5: 24,386,395	V735A	possibly damaging	Het
BB014433	C	A	8: 15,041,717	A379S	probably benign	Het
BC005561	T	A	5: 104,519,420	Y603N	probably damaging	Het
Ccl2	G	T	11: 82,036,601		probably null	Het
Cct2	T	C	10: 117,053,017	R526G	probably null	Het
Cep55	T	C	19: 38,062,634	M164T	probably benign	Het
Clec2d	G	A	6: 129,184,251	A104T	probably benign	Het
Cyp3a11	A	G	5: 145,868,547	L220P	possibly damaging	Het
Dgkk	T	A	X: 6,875,248	D102E	probably damaging	Het
Emcn	T	C	3: 137,404,017	I140T	possibly damaging	Het
Exoc2	T	A	13: 30,864,884	I729L	probably benign	Het
Fbxl20	T	C	11: 98,090,849	I338V	probably benign	Het
Gm4985	T	A	X: 23,958,934	M1L	probably null	Het
Gm6614	T	G	6: 141,992,361	E277D	possibly damaging	Het
Gucy2c	G	A	6: 136,702,760	T943I	probably damaging	Het
Hdac9	C	T	12: 34,407,802	V251I	probably benign	Het
Hoxa10	T	C	6: 52,232,636	E52G	probably damaging	Het
Il17rb	A	T	14: 30,006,081	S56R	probably benign	Het
Knl1	A	G	2: 119,072,000	D1394G	probably damaging	Het
Kpna1	G	A	16: 36,031,221	A392T	probably damaging	Het
Krt6b	A	G	15: 101,679,122	V179A	probably damaging	Het
Lpar5	A	T	6: 125,081,135		probably null	Het
March7	A	G	2: 60,229,846	R106G	probably benign	Het
Mtus1	C	T	8: 41,082,775	V635M	probably damaging	Het
Myl1	T	C	1: 66,944,815	K31E	possibly damaging	Het
Myt1l	T	A	12: 29,826,970	L207I	unknown	Het
Naalad2	A	T	9: 18,376,533	V267E	possibly damaging	Het
Pkhd1l1	T	C	15: 44,512,792	I950T	possibly damaging	Het
Ppp1r9a	G	T	6: 5,154,074	R1081L	probably benign	Het
Rc3h1	T	C	1: 160,963,542	I932T	probably benign	Het
Rubcnl	G	A	14: 75,042,392	R405Q	probably benign	Het
Sgsm3	A	G	15: 81,003,868	E53G	probably damaging	Het
Spin2g	A	T	X: 34,237,275	I171N	possibly damaging	Het
Srsf6	G	A	2: 162,931,699	S10N	probably damaging	Het
Tex45	A	G	8: 3,479,249	T245A	probably benign	Het
Tnn	A	T	1: 160,147,465	C131S	probably damaging	Het
Tnnt2	A	G	1: 135,843,791		probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Vmn1r86	T	C	7: 13,102,920	I10V	probably benign	Het
Xpot	T	C	10: 121,622,860	R20G	probably damaging	Het
Zfp735	T	A	11: 73,711,396	L389I	possibly damaging	Het
Zfp735	T	G	11: 73,711,397	L389*	probably null	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
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	intron	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
R7951:Ccdc33	UTSW	9	58069091	missense	probably benign
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'- TACTCCACATCTCTGGCTTGGG -3'
(R):5'- CACCAGAAAAGAGTGTTACAATGC -3'

Sequencing Primer
(F):5'- CTTGGGAGGAGCATCACCTAGAC -3'
(R):5'- TGCTAAGAAAATAGCTGCACAG -3'

Posted On

2014-10-15