Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02174:Ccdc33'

283046

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 #

IGL02174

Quality Score

Status

Chromosome

Chromosomal Location

58028677-58118823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58033655 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 435 (K435E)

Ref Sequence

ENSEMBL: ENSMUSP00000112613 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000042205
AA Change: K435E

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000040899
Gene: ENSMUSG00000037716
AA Change: K435E

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: K620E

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000096279
Gene: ENSMUSG00000037716
AA Change: K620E

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: K435E

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112613
Gene: ENSMUSG00000037716
AA Change: K435E

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: ENSMUST00000215944
AA Change: K620E

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,500,742	I1199V	probably damaging	Het
Adgrv1	G	A	13: 81,427,664	T4861I	probably benign	Het
Ampd2	T	C	3: 108,080,285	D108G	probably damaging	Het
Azin1	A	G	15: 38,493,486	F298L	probably benign	Het
Bag1	T	A	4: 40,941,555	E123D	possibly damaging	Het
Cabs1	A	G	5: 87,980,480	E330G	probably benign	Het
Clip2	T	G	5: 134,494,264	K943T	probably damaging	Het
Cmya5	T	C	13: 93,048,907	I3527V	possibly damaging	Het
Cyp2w1	C	T	5: 139,355,629	R244C	probably benign	Het
Dcaf13	C	A	15: 39,138,149	A284E	probably damaging	Het
Ddx31	T	A	2: 28,859,029	L279Q	probably damaging	Het
Dgki	A	G	6: 37,032,921	L497P	probably damaging	Het
Dnah12	A	T	14: 26,706,917	I233F	probably benign	Het
Dpp6	G	T	5: 27,721,087	G720*	probably null	Het
E430018J23Rik	G	A	7: 127,392,353	T154I	possibly damaging	Het
Emc1	T	C	4: 139,371,668	Y821H	possibly damaging	Het
Esr1	C	T	10: 4,998,003	R519W	probably damaging	Het
Gamt	A	T	10: 80,258,396	V227E	possibly damaging	Het
Habp2	A	G	19: 56,311,737	Q206R	probably damaging	Het
Ihh	A	G	1: 74,950,946	I90T	probably damaging	Het
Kif20b	T	C	19: 34,934,458		probably benign	Het
Lcp2	T	C	11: 34,050,966		probably benign	Het
Lyrm2	A	G	4: 32,800,649	I29V	probably benign	Het
Macf1	T	C	4: 123,491,794	D1168G	probably damaging	Het
Mocos	T	C	18: 24,695,896	S753P	probably benign	Het
Myo3a	A	G	2: 22,332,393	E367G	probably benign	Het
Ndor1	G	A	2: 25,249,194	A255V	possibly damaging	Het
Nfat5	C	T	8: 107,339,051	P148S	probably damaging	Het
Olfr1043	T	A	2: 86,162,098	M284L	possibly damaging	Het
Olfr1226	A	T	2: 89,193,368	F222Y	probably benign	Het
Olfr5	T	C	7: 6,480,439	Y239C	probably benign	Het
Olfr890	A	T	9: 38,143,785	T217S	possibly damaging	Het
Pappa2	C	T	1: 158,761,618	C1679Y	probably damaging	Het
Pcdhb2	T	A	18: 37,296,498	I508N	probably damaging	Het
Pkd2l1	G	A	19: 44,157,268	T172I	probably benign	Het
Pld5	A	G	1: 176,274,744	V44A	possibly damaging	Het
Prss44	T	C	9: 110,817,131	W309R	probably damaging	Het
Rc3h2	A	T	2: 37,411,225	N88K	probably benign	Het
Rspry1	A	G	8: 94,633,140	I102M	possibly damaging	Het
Stab2	A	G	10: 86,859,742		probably null	Het
Tbx3	C	A	5: 119,675,584	Y228*	probably null	Het
Tcf15	G	T	2: 152,144,145		probably benign	Het
Tmem41b	A	G	7: 109,978,796	S94P	possibly damaging	Het
Trmt10b	A	T	4: 45,308,508	I223F	possibly damaging	Het
Tyrp1	G	T	4: 80,844,826	G317*	probably null	Het
Urod	T	A	4: 116,990,282		probably benign	Het
Vwf	G	T	6: 125,555,395	R52L	probably damaging	Het
Wnk2	C	A	13: 49,057,167	Q232H	probably damaging	Het
Zbtb10	C	A	3: 9,251,812	P228Q	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
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
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

2015-04-16