Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02471:Ccdc110'

294719

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc110

Ensembl Gene

ENSMUSG00000071104

Gene Name

coiled-coil domain containing 110

Synonyms

LOC212392

Accession Numbers

Genbank: NM_001033246; MGI: 2685018

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL02471

Quality Score

Status

Chromosome

Chromosomal Location

45934619-45944145 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45941756 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 228 (D228G)

Ref Sequence

ENSEMBL: ENSMUSP00000092964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095326] [ENSMUST00000174815]

Predicted Effect

probably benign
Transcript: ENSMUST00000095326
AA Change: D228G

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000092964
Gene: ENSMUSG00000071104
AA Change: D228G

Domain	Start	End	E-Value	Type
coiled coil region	442	794	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174815

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,258,198	H2378N	probably benign	Het
Btaf1	C	A	19: 37,000,192	A1470E	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cldn18	T	C	9: 99,696,075	D205G	probably benign	Het
Clip2	T	C	5: 134,518,022	T231A	probably benign	Het
Cltc	A	G	11: 86,718,034	V723A	probably damaging	Het
Cpa3	C	T	3: 20,228,807		probably null	Het
Cyfip2	T	G	11: 46,200,803	T1097P	possibly damaging	Het
Dnah9	T	A	11: 65,947,618	R667*	probably null	Het
Dock10	T	C	1: 80,515,622	E1878G	probably damaging	Het
Ermap	G	A	4: 119,179,963	H353Y	probably damaging	Het
Etfa	A	T	9: 55,486,700		probably null	Het
F5	C	T	1: 164,174,291	P188S	probably damaging	Het
Foxq1	G	A	13: 31,559,343	E143K	possibly damaging	Het
Gsr	C	T	8: 33,682,584		probably benign	Het
Hebp1	T	A	6: 135,155,276	Y31F	probably benign	Het
Ighv1-14	T	C	12: 114,646,837		noncoding transcript	Het
Lamb1	T	A	12: 31,320,908	D1319E	probably damaging	Het
Lrp5	A	T	19: 3,602,408	V1154E	probably benign	Het
Manba	G	A	3: 135,507,008		probably benign	Het
Mknk2	A	T	10: 80,668,121	F319I	probably damaging	Het
Mup6	A	T	4: 60,003,971		probably benign	Het
Nalcn	T	C	14: 123,323,314	T784A	probably benign	Het
Nt5dc1	T	C	10: 34,403,725	E107G	probably benign	Het
Olfr1497	G	A	19: 13,795,225	P129S	probably damaging	Het
Olfr688	T	A	7: 105,289,045	F317L	probably benign	Het
Olfr745	A	T	14: 50,642,757	I159F	probably benign	Het
Phldb1	T	C	9: 44,711,233	E41G	probably damaging	Het
Ptk2	T	C	15: 73,298,187	D309G	probably benign	Het
Rab11fip5	A	G	6: 85,348,225	S367P	probably damaging	Het
Rb1cc1	T	A	1: 6,240,051	N224K	probably benign	Het
Rchy1	A	T	5: 91,957,546	C65*	probably null	Het
Rgs18	T	C	1: 144,774,621	D56G	probably benign	Het
Rtraf	A	C	14: 19,812,228	L197R	probably damaging	Het
Slc44a5	G	T	3: 154,256,576	W382L	probably damaging	Het
Snx24	C	T	18: 53,385,169		probably benign	Het
Sphkap	T	C	1: 83,276,176	D1284G	probably damaging	Het
Tmem54	A	G	4: 129,108,318	M53V	probably benign	Het
Trip6	G	A	5: 137,310,356	P414S	probably benign	Het
Vmn1r38	A	G	6: 66,776,767	Y122H	probably benign	Het
Wapl	T	A	14: 34,691,920	N246K	possibly damaging	Het
Zfp12	G	A	5: 143,244,796	G293R	probably damaging	Het
Zfp13	C	T	17: 23,576,098	A493T	probably benign	Het
Zfp446	T	G	7: 12,982,254	V209G	probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het

Other mutations in Ccdc110

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01898:Ccdc110	APN	8	45942124	missense	possibly damaging	0.76
IGL02175:Ccdc110	APN	8	45940623	missense	probably benign	0.07
IGL02524:Ccdc110	APN	8	45941942	missense	probably benign
IGL02887:Ccdc110	APN	8	45943184	missense	probably benign	0.01
IGL03227:Ccdc110	APN	8	45941549	missense	probably damaging	1.00
IGL03238:Ccdc110	APN	8	45941822	missense	probably benign	0.00
droll	UTSW	8	45942827	missense	probably benign	0.10
humorless	UTSW	8	45943450	missense	probably benign	0.03
R0049:Ccdc110	UTSW	8	45942626	missense	probably damaging	1.00
R0049:Ccdc110	UTSW	8	45942626	missense	probably damaging	1.00
R0110:Ccdc110	UTSW	8	45935157	missense	probably benign	0.00
R0189:Ccdc110	UTSW	8	45935082	missense	probably damaging	0.98
R0218:Ccdc110	UTSW	8	45934724	splice site	probably benign
R0280:Ccdc110	UTSW	8	45943450	missense	probably benign	0.03
R0332:Ccdc110	UTSW	8	45942964	nonsense	probably null
R0371:Ccdc110	UTSW	8	45942806	missense	possibly damaging	0.86
R0469:Ccdc110	UTSW	8	45935157	missense	probably benign	0.00
R0502:Ccdc110	UTSW	8	45934724	splice site	probably benign
R0510:Ccdc110	UTSW	8	45935157	missense	probably benign	0.00
R0534:Ccdc110	UTSW	8	45935138	missense	possibly damaging	0.73
R0647:Ccdc110	UTSW	8	45943388	missense	probably damaging	0.99
R0714:Ccdc110	UTSW	8	45943010	missense	possibly damaging	0.71
R0721:Ccdc110	UTSW	8	45941989	missense	probably benign
R1029:Ccdc110	UTSW	8	45941780	missense	probably damaging	0.98
R1147:Ccdc110	UTSW	8	45944084	missense	possibly damaging	0.64
R1147:Ccdc110	UTSW	8	45944084	missense	possibly damaging	0.64
R1170:Ccdc110	UTSW	8	45941885	missense	probably benign	0.22
R1340:Ccdc110	UTSW	8	45942181	missense	probably benign	0.02
R1540:Ccdc110	UTSW	8	45942325	nonsense	probably null
R1587:Ccdc110	UTSW	8	45941746	missense	probably benign	0.01
R1602:Ccdc110	UTSW	8	45938918	missense	probably benign	0.12
R1629:Ccdc110	UTSW	8	45942127	missense	probably benign	0.08
R1842:Ccdc110	UTSW	8	45940568	missense	probably damaging	1.00
R1933:Ccdc110	UTSW	8	45943250	missense	probably damaging	1.00
R1934:Ccdc110	UTSW	8	45943250	missense	probably damaging	1.00
R2006:Ccdc110	UTSW	8	45943312	missense	probably damaging	1.00
R2043:Ccdc110	UTSW	8	45942827	missense	probably benign	0.10
R2093:Ccdc110	UTSW	8	45942077	missense	probably damaging	1.00
R2165:Ccdc110	UTSW	8	45942839	missense	probably benign	0.00
R3613:Ccdc110	UTSW	8	45942806	missense	possibly damaging	0.86
R3923:Ccdc110	UTSW	8	45942389	missense	probably damaging	1.00
R4648:Ccdc110	UTSW	8	45942668	missense	possibly damaging	0.95
R4773:Ccdc110	UTSW	8	45943208	missense	probably damaging	1.00
R4901:Ccdc110	UTSW	8	45943400	missense	probably benign	0.35
R4911:Ccdc110	UTSW	8	45942907	missense	probably benign	0.00
R4923:Ccdc110	UTSW	8	45943423	missense	probably benign	0.29
R5104:Ccdc110	UTSW	8	45942692	missense	probably damaging	0.99
R5561:Ccdc110	UTSW	8	45940609	missense	probably benign	0.02
R5966:Ccdc110	UTSW	8	45942536	missense	probably damaging	1.00
R5976:Ccdc110	UTSW	8	45943499	missense	possibly damaging	0.71
R6141:Ccdc110	UTSW	8	45941770	missense	possibly damaging	0.89
R6326:Ccdc110	UTSW	8	45942041	missense	probably damaging	1.00
R6366:Ccdc110	UTSW	8	45943388	missense	probably damaging	0.99
R6405:Ccdc110	UTSW	8	45941697	nonsense	probably null
R6482:Ccdc110	UTSW	8	45942788	missense	probably benign	0.00
R6815:Ccdc110	UTSW	8	45941987	missense	probably benign	0.19
R7387:Ccdc110	UTSW	8	45942196	missense	probably benign	0.00
R7680:Ccdc110	UTSW	8	45941651	missense	possibly damaging	0.64
X0053:Ccdc110	UTSW	8	45942961	missense	possibly damaging	0.56
X0054:Ccdc110	UTSW	8	45941843	missense	probably damaging	1.00

Posted On

2015-04-16