Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01714:Ccdc33'

104882

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01714

Quality Score

Status

Chromosome

Chromosomal Location

58028677-58118823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58029870 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 682 (N682S)

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: N683S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: N683S

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: N937S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: N937S

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: N682S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: N682S

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

probably benign
Transcript: ENSMUST00000215944
AA Change: N902S

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 72,455,569		probably null	Het
Acvrl1	T	A	15: 101,137,370	I259N	probably damaging	Het
Ahctf1	A	G	1: 179,795,877	S59P	probably damaging	Het
Bcas1	T	C	2: 170,384,182		probably benign	Het
Celf1	T	C	2: 91,009,207	S326P	possibly damaging	Het
Cntn1	T	A	15: 92,253,989	C436*	probably null	Het
Cyp2d40	T	G	15: 82,761,240	D142A	possibly damaging	Het
Dnhd1	C	T	7: 105,720,942	L4525F	probably damaging	Het
Drosha	A	G	15: 12,878,784	Y732C	probably damaging	Het
Edn1	A	G	13: 42,305,014	N101S	probably benign	Het
Faxc	C	T	4: 21,936,688	P108S	probably damaging	Het
Glb1l2	C	T	9: 26,768,418		probably null	Het
Gm20498	A	G	12: 81,510,890	I47T	probably damaging	Het
Gm4952	G	T	19: 12,624,711	R161L	probably benign	Het
Hipk2	A	T	6: 38,819,182	Y51N	probably damaging	Het
Id4	T	G	13: 48,261,790	I98S	probably damaging	Het
Klf6	T	C	13: 5,866,659	S268P	probably benign	Het
Kmt2c	G	T	5: 25,313,400	T2427N	probably benign	Het
Lrp3	T	G	7: 35,206,071		probably null	Het
Lrrc66	A	G	5: 73,629,977	I10T	probably benign	Het
Mapkap1	T	G	2: 34,518,843	V281G	probably damaging	Het
Ncor1	T	A	11: 62,334,584	I1054F	possibly damaging	Het
Olfr1061	T	C	2: 86,413,800	N84S	probably benign	Het
Ppp1r9b	C	A	11: 95,005,354	T817N	probably damaging	Het
Prkd2	T	A	7: 16,863,942	I659N	probably damaging	Het
Radil	T	C	5: 142,543,397		probably benign	Het
Smarcd1	C	T	15: 99,712,421	T474I	probably damaging	Het
Srd5a1	C	T	13: 69,611,062	W62*	probably null	Het
St5	A	G	7: 109,570,062	S9P	probably damaging	Het
St6galnac2	C	T	11: 116,685,119	D169N	probably damaging	Het
Ttn	T	A	2: 76,857,179		probably benign	Het
Vmn1r77	A	T	7: 12,041,350	I18F	probably benign	Het
Xrcc5	A	T	1: 72,329,984	K332N	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
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
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

Posted On

2014-01-21