Mutagenetix > Incidental Mutations

Incidental Mutation 'R2369:Ccdc33'

246432

Institutional Source

Beutler Lab

Gene Symbol

Ccdc33

Ensembl Gene

ENSMUSG00000037716

Gene Name

coiled-coil domain containing 33

Synonyms

LOC382077, 4930535E21Rik

MMRRC Submission

040349-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2369 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58028677-58118823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58076630 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 220 (S220T)

Ref Sequence

ENSEMBL: ENSMUSP00000112613 (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: S220T

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: S220T

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: S429T

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: S429T

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: S220T

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: S220T

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: S429T

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	A	T	1: 57,382,791	N109Y	possibly damaging	Het
9230112D13Rik	A	T	14: 34,511,956	I126N	unknown	Het
A2ml1	C	T	6: 128,580,386	A115T	probably benign	Het
Ahcyl1	T	C	3: 107,670,240	D288G	probably damaging	Het
Atxn7l1	T	C	12: 33,358,850		probably null	Het
Celsr3	G	A	9: 108,842,552	R2450H	probably benign	Het
Cubn	T	A	2: 13,491,217	K69N	probably damaging	Het
Dclk3	A	G	9: 111,488,542	R749G	probably benign	Het
Dip2a	T	C	10: 76,313,196	N207S	probably benign	Het
Dok6	G	C	18: 89,414,864	R274G	probably null	Het
Esco2	G	A	14: 65,821,740	A496V	probably damaging	Het
Gbp5	A	T	3: 142,500,719	M55L	possibly damaging	Het
Grik5	T	C	7: 25,058,537	Y373C	probably damaging	Het
Hbs1l	T	A	10: 21,307,745	S128R	probably benign	Het
Ing3	A	G	6: 21,950,091	M28V	probably damaging	Het
Lmtk3	A	T	7: 45,795,088		probably benign	Het
Met	G	A	6: 17,531,528	V602I	probably benign	Het
Ndufaf7	C	A	17: 78,945,032	A290E	probably damaging	Het
Notch4	A	G	17: 34,585,950	Q1593R	probably benign	Het
Npl	A	G	1: 153,518,877		probably null	Het
Paqr6	T	C	3: 88,365,953	L84P	probably damaging	Het
Pros1	A	G	16: 62,928,069	Y635C	probably damaging	Het
Rad1	C	A	15: 10,486,659	N47K	probably damaging	Het
Rassf4	A	G	6: 116,638,297	F304L	probably damaging	Het
Tmem232	A	T	17: 65,402,997	V432E	probably damaging	Het
Wdr72	A	G	9: 74,210,175	K723R	possibly damaging	Het
Xpo7	G	A	14: 70,687,731	R493*	probably null	Het
Zfp11	G	A	5: 129,656,465	P644L	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
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

Predicted Primers

PCR Primer
(F):5'- TTAGTATCTCTGGGAGCCCTG -3'
(R):5'- TGTTCCAACCAAGGTCCTG -3'

Sequencing Primer
(F):5'- AACGATCCTGGGCAGCAGTG -3'
(R):5'- AACCAAGGTCCTGGCCTAAGTG -3'

Posted On

2014-10-30