Mutagenetix > Incidental Mutation

Incidental Mutation 'R6610:Ccdc33'

525905

Institutional Source

Beutler Lab

Gene Symbol

Ccdc33

Ensembl Gene

ENSMUSG00000037716

Gene Name

coiled-coil domain containing 33

Synonyms

LOC382077, 4930535E21Rik

MMRRC Submission

044733-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6610 (G1)

Quality Score

115.008

Status

Validated

Chromosome

Chromosomal Location

58028677-58118823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58069136 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 532 (T532S)

Ref Sequence

ENSEMBL: ENSMUSP00000149337 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042205
AA Change: T323S

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: T323S

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: T532S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: T532S

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

possibly damaging
Transcript: ENSMUST00000119665
AA Change: T323S

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: T323S

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: ENSMUST00000145886

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146741

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215944
AA Change: T532S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Meta Mutation Damage Score

0.0934

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	A	T	9: 21,526,265	M1L	probably benign	Het
Adam26b	T	C	8: 43,521,153	K271E	probably damaging	Het
Ankrd44	A	G	1: 54,655,087	I914T	probably benign	Het
Atp12a	A	G	14: 56,374,556	R396G	probably damaging	Het
C2cd3	A	G	7: 100,455,298	K2173E	probably benign	Het
Cbx2	A	G	11: 119,024,210	D51G	probably damaging	Het
Ccnt1	T	C	15: 98,565,101	I63M	probably damaging	Het
Cdc20b	C	T	13: 113,064,262	T172I	probably benign	Het
Ces2f	T	G	8: 104,950,106		probably null	Het
Cfh	A	T	1: 140,101,748	C597*	probably null	Het
Cntnap2	A	T	6: 46,015,257	T373S	probably benign	Het
Cyb5r4	T	G	9: 87,059,417	C64G	probably benign	Het
Cyp2c23	A	G	19: 44,007,081	F416L	probably damaging	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Eif4e1b	A	G	13: 54,784,315		probably benign	Het
Etl4	G	A	2: 20,713,369	R256K	probably damaging	Het
Fhad1	A	G	4: 141,916,396	L1054P	possibly damaging	Het
Fopnl	TTGTG	TTG	16: 14,300,145		probably null	Het
Grik1	A	G	16: 88,034,312	I190T	probably damaging	Het
Gsdmc2	T	C	15: 63,825,008	N438S	probably benign	Het
Igkv15-103	A	T	6: 68,437,633	R19*	probably null	Het
Ikbkap	A	G	4: 56,758,236	V1227A	probably benign	Het
Kcnc2	G	C	10: 112,271,856	G51R	probably benign	Het
Lhcgr	A	T	17: 88,769,879	I93K	possibly damaging	Het
Muc6	G	C	7: 141,640,433		probably benign	Het
Mymk	G	T	2: 27,067,393	S29R	possibly damaging	Het
Nab2	A	T	10: 127,664,338	I295N	probably damaging	Het
Neu2	A	T	1: 87,596,685	T131S	probably benign	Het
Pdcd7	T	A	9: 65,354,683	M129K	possibly damaging	Het
Ptar1	A	G	19: 23,717,844	H225R	probably benign	Het
Pygb	T	A	2: 150,823,966		probably null	Het
Rpap3	T	C	15: 97,688,168	D314G	probably benign	Het
Scara3	A	G	14: 65,931,221	S316P	probably damaging	Het
Sec24a	C	T	11: 51,696,656	V1051I	probably benign	Het
Setdb1	G	T	3: 95,328,577	A841D	probably damaging	Het
Stk32b	G	A	5: 37,448,678	T407I	probably benign	Het
Tcte2	G	A	17: 13,727,988	Q10*	probably null	Het
Tgm2	C	A	2: 158,143,100	E29*	probably null	Het
Trim32	G	A	4: 65,615,071	V622M	probably damaging	Het
Ttn	G	A	2: 76,749,329	T23740M	probably damaging	Het
Tyk2	G	T	9: 21,108,016	Q1014K	probably benign	Het
Vmn1r123	A	G	7: 21,162,590	N136D	probably benign	Het
Vmn2r31	A	T	7: 7,384,589	V661E	probably damaging	Het
Vmn2r85	A	T	10: 130,425,969	F166L	probably damaging	Het
Zfp426	T	C	9: 20,473,093	K98R	probably damaging	Het
Zfp534	C	T	4: 147,674,490	R574K	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
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
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'- CCCTGATAGAGGCTGCTAAGAAG -3'
(R):5'- AGCTATGTGTCCATAACCAAGG -3'

Sequencing Primer
(F):5'- AGCTACATTTACCCGGATGG -3'
(R):5'- TGTGTCCATAACCAAGGATAGAGTC -3'

Posted On

2018-06-22