Mutagenetix > Incidental Mutation

Incidental Mutation 'R2224:Ccdc33'

241554

Institutional Source

Beutler Lab

Gene Symbol

Ccdc33

Ensembl Gene

ENSMUSG00000037716

Gene Name

coiled-coil domain containing 33

Synonyms

LOC382077, 4930535E21Rik

MMRRC Submission

040225-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2224 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58028677-58118823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58082022 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 123 (S123P)

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 damaging
Transcript: ENSMUST00000042205
AA Change: S123P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: S123P

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: S368P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: S368P

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: S123P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: S123P

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: ENSMUST00000123746

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

possibly damaging
Transcript: ENSMUST00000215944
AA Change: S368P

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

Meta Mutation Damage Score

0.2635

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	G	16: 14,472,068	L1416R	probably damaging	Het
Aen	C	A	7: 78,902,451	T15K	probably benign	Het
Ahnak	G	A	19: 9,012,991		probably benign	Het
Ar	T	A	X: 98,151,331	M517K	probably benign	Het
Arsb	T	A	13: 93,794,171	F216I	probably damaging	Het
Atg9b	A	G	5: 24,386,395	V735A	possibly damaging	Het
BC051142	C	A	17: 34,448,763		probably null	Het
Brinp3	C	T	1: 146,901,920	Q702*	probably null	Het
Btbd9	C	A	17: 30,527,346	A169S	probably damaging	Het
Cacna1h	T	C	17: 25,385,943	N1132S	probably benign	Het
Cep250	A	C	2: 155,991,817	E1886D	possibly damaging	Het
Chd9	A	C	8: 91,011,285	H1515P	probably benign	Het
Cyp2c68	A	G	19: 39,735,582	C213R	probably benign	Het
Ddx41	G	A	13: 55,531,401	T544I	probably damaging	Het
Dgkk	T	A	X: 6,875,248	D102E	probably damaging	Het
Eea1	T	A	10: 96,020,012	V637D	probably damaging	Het
Emcn	T	C	3: 137,404,017	I140T	possibly damaging	Het
Exo1	A	G	1: 175,886,688		probably null	Het
Fbxo21	T	G	5: 118,008,123	Y597D	probably damaging	Het
Fbxw20	G	C	9: 109,233,582	Q59E	possibly damaging	Het
Fpr3	T	A	17: 17,971,193	V242D	probably damaging	Het
Fyb	A	G	15: 6,652,383	Y737C	probably damaging	Het
Gm17661	GG	GGG	2: 90,917,708		noncoding transcript	Het
Gm4985	T	A	X: 23,958,934	M1L	probably null	Het
Hdac9	C	T	12: 34,407,802	V251I	probably benign	Het
Hoxa10	T	C	6: 52,232,636	E52G	probably damaging	Het
Il17f	A	G	1: 20,779,375	V55A	probably damaging	Het
Inpp1	T	A	1: 52,790,131	E243V	probably benign	Het
Leap2	A	G	11: 53,422,807	L46P	probably damaging	Het
Map4k3	A	T	17: 80,630,454	D339E	probably benign	Het
Met	A	G	6: 17,563,722		probably null	Het
Mgam	G	T	6: 40,764,274		probably null	Het
Mrgpra1	A	G	7: 47,335,106	V275A	possibly damaging	Het
Mrgprx2	T	A	7: 48,482,860	Q70L	probably benign	Het
Mtus1	C	T	8: 41,082,775	V635M	probably damaging	Het
Mup18	G	T	4: 61,671,891	F133L	possibly damaging	Het
Naalad2	A	T	9: 18,376,533	V267E	possibly damaging	Het
Nin	A	T	12: 70,061,230	I196N	probably damaging	Het
Nkpd1	A	T	7: 19,519,820	Y37F	probably benign	Het
Odc1	A	G	12: 17,547,335	I13V	probably benign	Het
Olfr1024	T	A	2: 85,904,755	I100F	probably benign	Het
Olfr1200	A	T	2: 88,767,586	M243K	possibly damaging	Het
Olfr1377	T	C	11: 50,985,232	F177S	probably damaging	Het
Pard3	A	G	8: 127,359,776	I286V	probably damaging	Het
Pcx	T	C	19: 4,617,998	I516T	possibly damaging	Het
Ppp1r9a	G	T	6: 5,154,074	R1081L	probably benign	Het
Prpf40b	C	T	15: 99,303,291		probably benign	Het
Rnmt	C	T	18: 68,305,783		probably benign	Het
Sfxn1	A	G	13: 54,085,517	T20A	possibly damaging	Het
Sirt2	A	G	7: 28,772,212		probably null	Het
Spata31d1a	T	A	13: 59,703,715	I200L	probably benign	Het
Spin2g	A	T	X: 34,237,275	I171N	possibly damaging	Het
Tex45	A	G	8: 3,479,249	T245A	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Uqcrc2	T	A	7: 120,641,714	V73E	probably damaging	Het
Vmn2r100	A	G	17: 19,522,372	K336R	probably benign	Het
Vmn2r108	A	T	17: 20,481,033	Y68*	probably null	Het
Zbtb4	C	T	11: 69,776,358	T163I	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
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
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'- ATACTCCACATCTCTGGCTTGG -3'
(R):5'- CACCAGAAAAGAGTGTTACAATGC -3'

Sequencing Primer
(F):5'- CTTGGGAGGAGCATCACCTAGAC -3'
(R):5'- TGCTAAGAAAATAGCTGCACAG -3'

Posted On

2014-10-15