Mutagenetix > Incidental Mutation

Incidental Mutation 'R9297:Ccdc33'

704671

Institutional Source

Beutler Lab

Gene Symbol

Ccdc33

Ensembl Gene

ENSMUSG00000037716

Gene Name

coiled-coil domain containing 33

Synonyms

LOC382077, 4930535E21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9297 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58028677-58118823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58086593 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 335 (W335L)

Ref Sequence

ENSEMBL: ENSMUSP00000096279 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000042205
AA Change: W90L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: W90L

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: W335L

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: W335L

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: W90L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: W90L

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

possibly damaging
Transcript: ENSMUST00000215944
AA Change: W335L

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.3663

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (73/74)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	T	C	16: 85,802,646	Q22R	probably benign	Het
Adamts20	A	G	15: 94,403,440	S68P	possibly damaging	Het
Adcy6	A	T	15: 98,593,585	N1044K	possibly damaging	Het
Ak9	T	G	10: 41,423,085	M1594R	unknown	Het
Alkbh3	A	G	2: 94,004,737	S88P	probably damaging	Het
Angpt1	A	G	15: 42,438,355	I419T	probably benign	Het
Ankrd31	A	T	13: 96,878,577	L1451F	probably benign	Het
Ap1b1	T	C	11: 5,040,157	I860T	probably benign	Het
Apcdd1	C	T	18: 62,922,660		probably benign	Het
Astn2	T	C	4: 65,542,723	D1058G	possibly damaging	Het
Atg3	A	G	16: 45,167,008	H48R	possibly damaging	Het
Bnc2	A	C	4: 84,555,899		probably benign	Het
Cadps2	A	G	6: 23,496,888	Y453H	probably benign	Het
Catsperg1	T	C	7: 29,191,660	T653A	probably benign	Het
Ccdc102a	A	G	8: 94,911,492	S249P	possibly damaging	Het
Ccdc125	A	G	13: 100,696,412	Y499C	probably damaging	Het
Ccdc141	A	G	2: 77,011,684	F1468L	probably benign	Het
Ccdc162	C	A	10: 41,630,114	M893I	probably benign	Het
Chn2	T	A	6: 54,295,855	Y355N	probably damaging	Het
Clec4g	A	G	8: 3,716,500	M267T	probably damaging	Het
Cpa6	A	T	1: 10,484,048	D111E	possibly damaging	Het
Crlf3	A	G	11: 80,059,205	C200R	probably damaging	Het
Cyp4a10	T	C	4: 115,521,178	S164P	probably damaging	Het
Def6	A	G	17: 28,217,740	N126S	probably damaging	Het
Diaph1	G	A	18: 37,889,775	T782I	probably benign	Het
Dnah5	A	C	15: 28,203,908		probably benign	Het
Eme1	A	T	11: 94,650,788	S69R	probably benign	Het
Fat3	A	T	9: 15,997,700	D2335E	probably damaging	Het
Fstl4	A	G	11: 53,134,146	K282E	possibly damaging	Het
Galnt7	T	C	8: 57,542,521	E380G	probably damaging	Het
Gm973	A	T	1: 59,544,670	Y204F	probably damaging	Het
Hace1	T	A	10: 45,652,673	S337T	probably benign	Het
Ipo8	C	A	6: 148,801,578	C416F	possibly damaging	Het
Kcnt2	T	C	1: 140,425,195	I214T	probably damaging	Het
Kdelr3	C	A	15: 79,527,074	L203I	probably benign	Het
Kif26b	C	T	1: 178,715,809	Q336*	probably null	Het
Krt36	A	G	11: 100,103,445	Y269H	probably damaging	Het
Lamc1	G	T	1: 153,252,000	R386S	probably damaging	Het
Lipc	T	A	9: 70,820,454	D122V	probably damaging	Het
Lrba	A	G	3: 86,373,566	T1841A	probably damaging	Het
Lrit1	T	A	14: 37,062,036	D440E	probably damaging	Het
Map4	T	C	9: 110,053,412	I448T	probably benign	Het
Megf8	G	T	7: 25,331,086	C488F	probably damaging	Het
Mllt6	A	G	11: 97,672,488	E299G	probably damaging	Het
Mpst	G	T	15: 78,410,442	V125L	probably damaging	Het
Msx1	G	A	5: 37,824,412		probably benign	Het
Muc2	A	G	7: 141,749,022	E473G		Het
Myo15	A	G	11: 60,495,073	R602G	probably null	Het
Myod1	A	T	7: 46,376,932	H87L	probably damaging	Het
Nid1	T	C	13: 13,476,312	V478A	possibly damaging	Het
Obscn	A	T	11: 59,007,533	I6634N	unknown	Het
Olfr1054	A	G	2: 86,332,844	Y171H	probably benign	Het
Olfr598	T	A	7: 103,329,376	Y297N	probably damaging	Het
Olfr676	T	C	7: 105,035,623	Y142H	probably damaging	Het
Pdgfrl	C	T	8: 40,938,231	S66F	probably damaging	Het
Phf20	G	A	2: 156,273,770	R337H	probably benign	Het
Pkhd1	T	A	1: 20,222,894	Y2834F	probably benign	Het
Plekhg4	A	C	8: 105,379,275	E768A	probably damaging	Het
Prss37	A	T	6: 40,514,975	Y224N	probably damaging	Het
Ptprs	A	T	17: 56,458,257	V9E	probably damaging	Het
Ptprt	A	G	2: 161,575,778	L926S	probably benign	Het
Rgl1	G	A	1: 152,524,703	T649I	possibly damaging	Het
Serpinf1	A	G	11: 75,416,425	S29P	probably damaging	Het
Skint6	A	T	4: 112,811,520	D1119E	probably benign	Het
Snw1	T	C	12: 87,458,904	K255E	probably damaging	Het
Sox6	T	C	7: 115,662,322	I220V	probably benign	Het
Tas2r114	A	G	6: 131,689,324	I247T	probably damaging	Het
Tmem110	T	A	14: 30,866,682	V122E	probably damaging	Het
Tmem145	C	T	7: 25,308,832	T280M	probably damaging	Het
Usp48	G	A	4: 137,613,685	G332E	probably benign	Het
Zfp219	T	C	14: 52,009,037	H211R	probably damaging	Het
Zfp42	T	C	8: 43,295,735	N243S	possibly damaging	Het
Zkscan4	T	A	13: 21,484,031	S246R	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
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
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'- TTTTATCGGAGCCCAGGGAG -3'
(R):5'- AGAAGCTGGGCATCCATTAAG -3'

Sequencing Primer
(F):5'- AGGTGTTCAGCTGGCCTC -3'
(R):5'- TGGGCATCCATTAAGCCCAG -3'

Posted On

2022-03-25