Mutagenetix > Incidental Mutation

Incidental Mutation 'R8215:Ccdc33'

636374

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 #

R8215 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58028677-58118823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58032712 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 749 (S749T)

Ref Sequence

ENSEMBL: ENSMUSP00000096279 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000042205
AA Change: S564T

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: S564T

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

probably benign
Transcript: ENSMUST00000098682
AA Change: S749T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: S749T

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: ENSMUST00000119665
AA Change: S563T

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: S563T

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 93.8%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	T	15: 82,065,100	R1066L	probably benign	Het
Abca14	A	C	7: 120,294,202	I1292L	probably benign	Het
Adamtsl1	T	G	4: 86,343,145	F1206V	probably benign	Het
Agl	T	C	3: 116,788,644	H243R	probably damaging	Het
Btn2a2	A	C	13: 23,481,870	L264R	probably damaging	Het
Cd55b	CTTTT	CTTTTT	1: 130,419,600		probably null	Het
Cdh8	A	G	8: 99,030,866	I700T	possibly damaging	Het
Cfap65	A	G	1: 74,910,743	L1201P	probably damaging	Het
Chsy3	C	T	18: 59,175,869	Q65*	probably null	Het
Clic5	T	A	17: 44,275,341	L239*	probably null	Het
Corin	T	C	5: 72,305,018	D957G	probably damaging	Het
Cped1	A	T	6: 22,132,278	Y486F	probably damaging	Het
Csnk1g3	C	T	18: 53,948,079	T374M	probably benign	Het
D930020B18Rik	T	A	10: 121,667,524	C201*	probably null	Het
Dnah2	A	G	11: 69,435,367	F3653L	probably damaging	Het
F11r	GGTGTG	GGTGTGTG	1: 171,463,088		probably null	Het
Foxj3	T	G	4: 119,621,611	S455R	unknown	Het
Gcnt3	T	C	9: 70,034,173	D371G	probably damaging	Het
Gm10837	A	G	14: 122,490,781	E23G	unknown	Het
Gm38394	G	T	1: 133,658,792	A269E	probably damaging	Het
Gm5346	T	A	8: 43,626,501	T229S	probably benign	Het
Hivep3	T	C	4: 120,122,901	V1712A	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hoxa2	A	G	6: 52,163,061	V315A	probably damaging	Het
Irx5	A	T	8: 92,359,613	Y108F	possibly damaging	Het
Itsn1	T	C	16: 91,812,108	I248T	probably damaging	Het
Kcnb1	T	C	2: 167,104,441	K829R	probably benign	Het
Klhl17	A	G	4: 156,230,053	V635A	unknown	Het
Krr1	C	T	10: 111,979,929	R234*	probably null	Het
Lrrc7	A	T	3: 158,209,750	D209E	probably benign	Het
Mcm2	T	C	6: 88,897,311	E71G	probably damaging	Het
Mroh5	C	A	15: 73,819,290	K10N	probably damaging	Het
Myh3	A	G	11: 67,101,179	E1850G	probably damaging	Het
Nedd9	T	C	13: 41,338,843	I64V	probably benign	Het
Nisch	A	G	14: 31,186,701	S456P	possibly damaging	Het
Nrcam	T	C	12: 44,564,113	V532A	probably benign	Het
Olfr1048	C	T	2: 86,236,518	V106M	probably benign	Het
Olfr470	T	G	7: 107,844,917	D272A	probably damaging	Het
Olfr639	T	C	7: 104,012,123	D193G	possibly damaging	Het
Olfr851	T	C	9: 19,497,500	F251L	probably damaging	Het
Plekhg1	C	T	10: 3,957,521	P868S		Het
Ptf1a	A	G	2: 19,445,949	Q30R	possibly damaging	Het
Ptgs1	G	T	2: 36,251,167	C542F	probably damaging	Het
Rere	T	A	4: 150,616,967	M1268K	possibly damaging	Het
Rp1	A	G	1: 4,245,095	F485L	unknown	Het
Samd14	A	T	11: 95,014,387	E8D	probably benign	Het
Serpinh1	A	G	7: 99,346,338	Y346H	possibly damaging	Het
Shq1	A	T	6: 100,671,060	M1K	probably null	Het
Tfrc	T	C	16: 32,625,030	S551P	probably damaging	Het
Tnr	A	C	1: 159,888,290	N874T	possibly damaging	Het
Trak1	C	A	9: 121,469,030	T667N	probably damaging	Het
Trpv2	A	C	11: 62,590,931	T423P	probably damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Vmn2r24	A	G	6: 123,779,118	T50A	probably benign	Het
Xirp2	T	A	2: 67,516,509	D3031E	probably benign	Het
Zbtb4	A	C	11: 69,778,772	I774L	probably benign	Het
Zfhx3	A	G	8: 108,950,717	T2800A	probably benign	Het
Zfp651	T	C	9: 121,767,278	S604P	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
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'- AGATCACCATGGAAGCTCTCAG -3'
(R):5'- TGCAGAAGATGAAGGCCCTG -3'

Sequencing Primer
(F):5'- ACCATGGAAGCTCTCAGTACTTG -3'
(R):5'- TGGAGGACACTGTACGGCAC -3'

Posted On

2020-07-13