Mutagenetix > Incidental Mutation

Incidental Mutation 'R5015:Ccdc33'

385507

Institutional Source

Beutler Lab

Gene Symbol

Ccdc33

Ensembl Gene

ENSMUSG00000037716

Gene Name

coiled-coil domain containing 33

Synonyms

LOC382077, 4930535E21Rik

MMRRC Submission

042606-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5015 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58028677-58118823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 58118635 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 37 (F37C)

Ref Sequence

ENSEMBL: ENSMUSP00000149337 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098681] [ENSMUST00000098682] [ENSMUST00000128021] [ENSMUST00000136154] [ENSMUST00000215944]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000098681
AA Change: F37C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000098682
AA Change: F37C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: F37C

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: ENSMUST00000128021

SMART Domains

Protein: ENSMUSP00000117832
Gene: ENSMUSG00000032327

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	40	87	8.1e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131007

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

probably damaging
Transcript: ENSMUST00000215944
AA Change: F37C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.2%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	T	A	8: 40,754,634	F312L	probably benign	Het
Adprm	A	G	11: 67,042,030	F18L	possibly damaging	Het
Ampd1	T	G	3: 103,099,665	N735K	possibly damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atp1a4	T	C	1: 172,254,082	M168V	probably damaging	Het
Bcl6	G	A	16: 23,974,850	H116Y	probably damaging	Het
Bmpr2	T	A	1: 59,851,224	N338K	probably damaging	Het
Bms1	A	T	6: 118,404,263	Y697*	probably null	Het
Ccdc60	T	A	5: 116,288,448	Q30L	probably benign	Het
Cndp1	C	A	18: 84,631,911	R219L	probably damaging	Het
D13Ertd608e	T	A	13: 119,836,938		probably null	Het
Daam2	C	A	17: 49,476,522	D627Y	probably damaging	Het
Dffb	T	C	4: 153,972,959	D87G	possibly damaging	Het
Dnah2	T	G	11: 69,497,882	T892P	possibly damaging	Het
Dqx1	A	G	6: 83,066,111	T610A	probably benign	Het
Dspp	A	T	5: 104,177,060	I430L	possibly damaging	Het
Dytn	T	A	1: 63,633,695	K516N	probably benign	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fmnl2	T	A	2: 53,103,761	N389K	possibly damaging	Het
Fn1	G	A	1: 71,626,177	T927I	probably damaging	Het
Foxn1	T	C	11: 78,371,163	K127E	probably damaging	Het
Fpr-rs6	A	G	17: 20,182,346	F251S	probably damaging	Het
Frrs1	A	G	3: 116,878,439	D62G	probably damaging	Het
Fut10	T	A	8: 31,236,120	V301D	probably damaging	Het
Gk5	A	G	9: 96,177,417		probably null	Het
Glipr1l1	T	A	10: 112,078,374	N213K	probably benign	Het
Gm1110	A	G	9: 26,881,866	F538S	probably benign	Het
Gm11492	C	T	11: 87,567,217	S139F	possibly damaging	Het
Gm5483	T	C	16: 36,186,467		probably null	Het
Gm7347	T	A	5: 26,057,368	T52S	probably benign	Het
Gsap	T	C	5: 21,222,408	I178T	probably damaging	Het
Hcn1	A	T	13: 117,603,020	Q106L	unknown	Het
Hils1	C	A	11: 94,968,102	N74K	probably damaging	Het
Isg20l2	G	T	3: 87,931,981	L166F	possibly damaging	Het
Kcnq3	T	A	15: 66,004,763	E510D	probably damaging	Het
Kif26b	G	T	1: 178,928,330	R2003L	probably damaging	Het
Kiss1r	T	C	10: 79,918,807	V45A	probably damaging	Het
Krt14	G	A	11: 100,207,206	R84*	probably null	Het
Mbd5	T	C	2: 49,258,196	M806T	possibly damaging	Het
Mdga1	A	T	17: 29,839,873	I13N	possibly damaging	Het
Mfsd4b5	T	C	10: 39,974,762	K73E	probably benign	Het
Mterf2	C	T	10: 85,119,732	G343R	probably benign	Het
Mto1	T	A	9: 78,461,621	F522I	probably benign	Het
Myo18b	T	C	5: 112,790,057	E1734G	probably damaging	Het
Myoz1	T	C	14: 20,653,719	T53A	probably benign	Het
Naxd	T	C	8: 11,513,032	L324P	probably damaging	Het
Nos1	T	A	5: 117,867,269	V18D	probably damaging	Het
Nova1	T	C	12: 46,816,955	T71A	unknown	Het
Olfr1417	T	C	19: 11,828,118	R303G	probably benign	Het
Olfr389	C	G	11: 73,777,181	V49L	probably benign	Het
Olfr419	A	G	1: 174,250,882	L15S	possibly damaging	Het
Olfr531	T	C	7: 140,400,170	D292G	probably damaging	Het
Olfr690	A	G	7: 105,329,604	V196A	possibly damaging	Het
Otof	T	A	5: 30,382,894	Y981F	probably damaging	Het
Peg10	C	CTCA	6: 4,756,453		probably benign	Het
Pex1	A	G	5: 3,620,597	K7E	probably damaging	Het
Pi4ka	A	G	16: 17,303,082	S73P	possibly damaging	Het
Plxnb1	T	A	9: 109,100,430	I118N	possibly damaging	Het
Prcc	T	C	3: 87,872,253	D158G	probably damaging	Het
Ptpn7	C	A	1: 135,139,139	R245S	possibly damaging	Het
Ptpre	C	T	7: 135,669,132	H346Y	probably benign	Het
Pwp2	A	G	10: 78,182,693	C86R	probably benign	Het
Rfng	T	G	11: 120,783,050	D178A	probably damaging	Het
Rhpn1	T	C	15: 75,708,241	I51T	probably damaging	Het
Rnasel	G	T	1: 153,754,097	E120*	probably null	Het
Sall2	T	G	14: 52,315,655	S26R	possibly damaging	Het
Scn10a	A	G	9: 119,622,921	V1312A	possibly damaging	Het
Sdk2	C	A	11: 113,793,761	R1958L	probably damaging	Het
Slc52a2	T	A	15: 76,540,551	C330S	probably damaging	Het
Smarca2	T	A	19: 26,691,388	I987N	possibly damaging	Het
Srrt	A	T	5: 137,296,009	Y486N	probably damaging	Het
Stat5b	A	T	11: 100,805,005	N50K	possibly damaging	Het
Strip2	T	A	6: 29,931,266	D405E	probably benign	Het
Tnc	A	T	4: 64,006,502	D986E	probably damaging	Het
Tph2	T	C	10: 115,079,716	N473S	probably benign	Het
Tpp1	C	T	7: 105,752,025		probably benign	Het
Trpm3	T	C	19: 22,711,712	Y2H	probably damaging	Het
Ttc21a	A	T	9: 119,966,129	E1072V	probably damaging	Het
Zfat	T	C	15: 68,178,913	D753G	probably damaging	Het
Zmym2	T	A	14: 56,921,594	S609T	probably 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
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
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
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'- TACCTTTGGGCAGAGTGAAG -3'
(R):5'- CCCCAAGTGCCTAATCTGTC -3'

Sequencing Primer
(F):5'- GGCAGAGTGAAGATAAATTTGTTCC -3'
(R):5'- TTTCCGACTGGACCCAGGATG -3'

Posted On

2016-05-10