Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01898:Ccdc110'

179461

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 #

IGL01898

Quality Score

Status

Chromosome

Chromosomal Location

45934619-45944145 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 45942124 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 351 (S351A)

Ref Sequence

ENSEMBL: ENSMUSP00000092964 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095326
AA Change: S351A

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000092964
Gene: ENSMUSG00000071104
AA Change: S351A

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	A	T	2: 154,552,713	D195V	probably damaging	Het
Aqp11	A	G	7: 97,726,663	W260R	probably benign	Het
Atp8a2	T	C	14: 60,023,513	T390A	probably damaging	Het
Atp8b4	T	C	2: 126,389,361	N431S	probably benign	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Cntnap4	T	C	8: 112,856,307	F1006L	possibly damaging	Het
Ddr2	A	G	1: 169,998,156	F292L	possibly damaging	Het
F830104G03Rik	G	A	3: 56,890,216	Q97*	probably null	Het
Fam171a2	T	C	11: 102,439,756	T267A	possibly damaging	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Igkv5-45	T	A	6: 69,775,892	K69*	probably null	Het
Mios	T	C	6: 8,222,668	I534T	probably benign	Het
Nus1	A	G	10: 52,430,067	D185G	probably benign	Het
Proc	A	G	18: 32,133,145		probably null	Het
Psma3	T	A	12: 70,984,674	H36Q	probably benign	Het
Sh3rf3	G	T	10: 59,049,530	A412S	probably damaging	Het
Smgc	A	T	15: 91,844,524		probably null	Het
Spta1	T	A	1: 174,213,862	S1297R	probably benign	Het
Steap3	T	C	1: 120,241,574	D293G	probably benign	Het
Tbx18	A	T	9: 87,707,859	M342K	possibly damaging	Het
Trip11	T	C	12: 101,885,676	M425V	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het

Other mutations in Ccdc110

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02175:Ccdc110	APN	8	45940623	missense	probably benign	0.07
IGL02471:Ccdc110	APN	8	45941756	missense	probably benign	0.14
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

2014-05-07