Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02158:Ccdc33'

282338

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02158

Quality Score

Status

Chromosome

Chromosomal Location

58028677-58118823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58030419 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 623 (D623G)

Ref Sequence

ENSEMBL: ENSMUSP00000112613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034874] [ENSMUST00000042205] [ENSMUST00000098682] [ENSMUST00000119665] [ENSMUST00000215944]

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

probably damaging
Transcript: ENSMUST00000042205
AA Change: D624G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: D624G

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: D878G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: D878G

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: D623G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: D623G

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

possibly damaging
Transcript: ENSMUST00000215944
AA Change: D843G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,256,619		probably null	Het
Abca2	A	G	2: 25,447,879		probably benign	Het
Abcb11	A	T	2: 69,299,925	S262R	probably damaging	Het
Abhd12	T	A	2: 150,848,421	Q118L	probably benign	Het
Adam1a	A	T	5: 121,518,971	L753*	probably null	Het
Ahctf1	A	T	1: 179,779,652	I699N	possibly damaging	Het
Arl11	C	A	14: 61,311,038	A99E	probably damaging	Het
Atp5o	G	A	16: 91,930,401	R16W	probably damaging	Het
AW551984	T	C	9: 39,599,325	H238R	probably null	Het
Bpifb9a	C	A	2: 154,266,813		probably benign	Het
Carhsp1	A	G	16: 8,663,713		probably benign	Het
Chd6	C	A	2: 161,026,292	R378L	possibly damaging	Het
Chn2	T	C	6: 54,300,245		probably benign	Het
Clgn	T	G	8: 83,423,136	I422S	probably damaging	Het
Col15a1	T	A	4: 47,300,606		probably null	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cyp2c39	T	C	19: 39,568,130	I470T	probably benign	Het
Dcaf11	T	A	14: 55,564,523		probably null	Het
Dnah1	G	T	14: 31,300,967	T1071K	probably benign	Het
Dnah2	T	A	11: 69,458,123	M2513L	probably benign	Het
Dqx1	A	G	6: 83,058,910		probably benign	Het
Gm1587	T	C	14: 77,798,842	E8G	unknown	Het
Hydin	T	C	8: 110,609,966	I5125T	possibly damaging	Het
Ighv5-9	G	T	12: 113,661,943	P60Q	probably damaging	Het
Itga7	T	G	10: 128,953,782	L993R	possibly damaging	Het
Itpr3	A	G	17: 27,098,442	N857S	probably damaging	Het
Krt23	C	T	11: 99,492,664		probably benign	Het
Lrp1	T	C	10: 127,554,271	N3093S	probably benign	Het
Mms22l	T	C	4: 24,505,349	F203S	probably damaging	Het
Morn5	A	G	2: 36,057,076	D122G	probably damaging	Het
Mpp2	G	T	11: 102,063,262	L220I	probably benign	Het
Mrgpra6	A	T	7: 47,185,952	Y240*	probably null	Het
Mtmr12	T	C	15: 12,237,930	I165T	probably damaging	Het
Mylk2	C	A	2: 152,919,157	N428K	probably damaging	Het
Nfil3	A	G	13: 52,968,152	Y239H	probably damaging	Het
Notch1	A	G	2: 26,460,339	L2263P	probably damaging	Het
Olfr130	T	A	17: 38,067,267	I32N	probably damaging	Het
Olfr888	A	G	9: 38,109,129	M148V	probably benign	Het
P3h3	A	T	6: 124,853,092	Y387N	probably damaging	Het
Pdcd6ip	A	T	9: 113,680,053	Y324*	probably null	Het
Plcb2	C	A	2: 118,711,363	R922L	probably benign	Het
Pml	T	C	9: 58,247,003	T196A	probably benign	Het
Ppp2r1b	C	A	9: 50,861,609	Q65K	probably benign	Het
Ric8a	A	G	7: 140,862,357	T507A	probably benign	Het
Sec16a	A	G	2: 26,416,632		probably null	Het
Slc46a3	G	T	5: 147,886,234	T266N	probably damaging	Het
Smg1	A	G	7: 118,212,946	S41P	possibly damaging	Het
Snrnp200	T	A	2: 127,237,483	N1837K	probably benign	Het
Sptan1	A	G	2: 30,030,324	T2318A	probably damaging	Het
St7l	C	T	3: 104,874,832	T175I	possibly damaging	Het
Tmc7	G	A	7: 118,538,211	R703C	probably damaging	Het
Urah	A	G	7: 140,836,886		probably benign	Het
Vmn1r42	A	T	6: 89,845,314	I91N	probably damaging	Het
Yy1	T	A	12: 108,814,599		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
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
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

2015-04-16