Mutagenetix > Incidental Mutation

Incidental Mutation 'R5786:Ccdc33'

448025

Institutional Source

Beutler Lab

Gene Symbol

Ccdc33

Ensembl Gene

ENSMUSG00000037716

Gene Name

coiled-coil domain containing 33

Synonyms

LOC382077, 4930535E21Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5786 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

58028677-58118823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58029952 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 655 (S655P)

Ref Sequence

ENSEMBL: ENSMUSP00000112613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034874] [ENSMUST00000042205] [ENSMUST00000098682] [ENSMUST00000119665] [ENSMUST00000188539] [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

possibly damaging
Transcript: ENSMUST00000042205
AA Change: S656P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: S656P

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: S910P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: S910P

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: S655P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: S655P

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: ENSMUST00000143797

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153106

Predicted Effect

probably benign
Transcript: ENSMUST00000188539

SMART Domains

Protein: ENSMUSP00000140777
Gene: ENSMUSG00000032323

Domain	Start	End	E-Value	Type
Pfam:p450	23	279	2.6e-51	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215944
AA Change: S875P

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

Meta Mutation Damage Score

0.2136

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	A	6: 40,968,188	D200E	probably damaging	Het
4930578I06Rik	C	A	14: 63,973,242	R179L	probably damaging	Het
Abhd5	A	G	9: 122,363,803		probably null	Het
Ankrd60	TGGCCACGCGG	TGG	2: 173,578,089		probably null	Het
Ano5	G	A	7: 51,566,318	D348N	possibly damaging	Het
Apob	C	T	12: 8,015,304	T4091I	possibly damaging	Het
Avil	G	A	10: 127,016,499		probably null	Het
C530008M17Rik	T	C	5: 76,866,196		probably null	Het
Cacna1a	T	C	8: 84,415,721		probably benign	Het
Capn7	T	C	14: 31,360,145	L436P	probably damaging	Het
Ccr6	T	C	17: 8,256,412	S150P	probably damaging	Het
Cd1d1	T	C	3: 86,998,788	N60S	probably benign	Het
Ckap5	A	G	2: 91,616,296		probably null	Het
Col15a1	A	G	4: 47,280,865	E753G	possibly damaging	Het
Col1a2	C	T	6: 4,530,223	R699W	unknown	Het
Csf2rb	T	C	15: 78,348,955	Y821H	probably damaging	Het
Cyp3a11	A	G	5: 145,862,474	I301T	possibly damaging	Het
Dpp3	C	T	19: 4,918,322	G241R	possibly damaging	Het
Dpyd	G	T	3: 119,427,237	M952I	probably damaging	Het
Dsg3	A	T	18: 20,521,571	I111L	possibly damaging	Het
Ect2	A	G	3: 27,146,953	F123L	probably damaging	Het
Ehmt2	G	C	17: 34,910,743	D961H	probably damaging	Het
Esp1	A	G	17: 40,730,918	I34V	probably benign	Het
Fam171b	G	A	2: 83,878,236	V361I	probably benign	Het
Flnc	T	A	6: 29,459,537	Y2545*	probably null	Het
Fmo4	C	T	1: 162,803,717	G227D	probably benign	Het
Grn	C	T	11: 102,434,043	Q153*	probably null	Het
H2-DMb1	T	G	17: 34,153,434	S12R	possibly damaging	Het
Ica1	G	T	6: 8,672,391	N203K	possibly damaging	Het
Kdm4c	C	A	4: 74,359,485	T792K	probably damaging	Het
Kif19a	T	A	11: 114,779,223	Y81*	probably null	Het
Kifc2	G	T	15: 76,664,378	C440F	probably damaging	Het
Lpin2	A	G	17: 71,230,273	T234A	probably benign	Het
Lysmd2	C	A	9: 75,635,603	P164Q	probably benign	Het
Maea	T	A	5: 33,368,683	D234E	probably benign	Het
Map4k1	T	A	7: 29,000,020	V572E	probably damaging	Het
Med6	C	T	12: 81,573,959	G166R	probably null	Het
Mtmr10	T	C	7: 64,337,710	I666T	probably damaging	Het
Myh14	T	A	7: 44,613,463	K1777M	probably benign	Het
Naip6	G	T	13: 100,300,216	Q600K	probably benign	Het
Obscn	A	G	11: 59,032,691	S6461P	probably damaging	Het
Olfr350	T	C	2: 36,850,049	M1T	probably null	Het
Osbpl7	T	A	11: 97,065,832	V567E	probably damaging	Het
Rad51ap2	A	T	12: 11,456,920	D281V	probably damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rpl24	C	A	16: 55,967,153	H59N	possibly damaging	Het
Rtl1	G	A	12: 109,592,619	L929F	possibly damaging	Het
Runx3	C	T	4: 135,163,264	T159I	probably damaging	Het
Serpine2	T	C	1: 79,816,920	I99V	probably benign	Het
Slc12a6	C	A	2: 112,284,722	P12Q	probably benign	Het
Slc25a18	T	C	6: 120,792,074	L184P	probably damaging	Het
Smg1	T	C	7: 118,212,897	D57G	probably benign	Het
Spdye4c	T	A	2: 128,596,841	*340K	probably null	Het
Srsf5	G	A	12: 80,949,537	E162K	possibly damaging	Het
Ssc5d	T	C	7: 4,936,818	V751A	probably benign	Het
Tcf3	T	C	10: 80,419,499	N157S	probably benign	Het
Tdrd7	T	C	4: 45,989,082	V71A	probably benign	Het
Tex14	T	C	11: 87,514,295	C678R	probably damaging	Het
Tgm3	A	T	2: 130,026,784	K214*	probably null	Het
Vps53	A	G	11: 76,063,007	I659T	probably benign	Het
Zfp597	A	T	16: 3,866,159	C244*	probably null	Het
Zfp933	T	A	4: 147,828,407		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
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
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
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'- CACATGATTTTCTCAGGGCCCC -3'
(R):5'- ACTGGACTCCATACCAAGTGC -3'

Sequencing Primer
(F):5'- TCTCAGGGCCCCAAGATTTG -3'
(R):5'- CAGAGAAGATCCGACTGTGTCTTG -3'

Posted On

2016-12-15