Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02524:Ccdc110'

296988

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

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL02524

Quality Score

Status

Chromosome

Chromosomal Location

46387656-46397182 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46394979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 290 (P290L)

Ref Sequence

ENSEMBL: ENSMUSP00000092964 (fasta)

Gene Model

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

AlphaFold

Q3V125

Predicted Effect

probably benign
Transcript: ENSMUST00000095326
AA Change: P290L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092964
Gene: ENSMUSG00000071104
AA Change: P290L

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,969,641 (GRCm39)		probably benign	Het
Acvr1	T	C	2: 58,338,319 (GRCm39)		probably benign	Het
Asap3	A	T	4: 135,965,927 (GRCm39)	T453S	probably damaging	Het
Ccdc127	A	G	13: 74,501,016 (GRCm39)	N11S	probably damaging	Het
Cd80	T	C	16: 38,303,045 (GRCm39)	V164A	probably benign	Het
Ctnna3	T	C	10: 64,096,605 (GRCm39)	I381T	possibly damaging	Het
Epha7	A	T	4: 28,821,494 (GRCm39)	T220S	possibly damaging	Het
Etnppl	A	G	3: 130,424,320 (GRCm39)		probably benign	Het
Far2	T	A	6: 148,052,156 (GRCm39)	L145Q	probably damaging	Het
Fdxr	A	G	11: 115,162,086 (GRCm39)		probably null	Het
Jmy	A	G	13: 93,609,268 (GRCm39)	V347A	probably damaging	Het
Kcns2	A	G	15: 34,838,981 (GRCm39)	I115V	probably benign	Het
Kif2a	A	G	13: 107,100,863 (GRCm39)	L627S	possibly damaging	Het
Krtap26-1	A	G	16: 88,444,367 (GRCm39)	S85P	possibly damaging	Het
Ldlr	C	A	9: 21,644,977 (GRCm39)	D168E	probably damaging	Het
Lrrc8e	T	G	8: 4,285,392 (GRCm39)	L539R	probably damaging	Het
Mmp8	A	G	9: 7,560,506 (GRCm39)	E61G	probably damaging	Het
Msh2	T	C	17: 87,985,785 (GRCm39)	F121L	probably benign	Het
Myh4	A	G	11: 67,140,066 (GRCm39)	K638E	possibly damaging	Het
Ndufaf6	A	G	4: 11,059,091 (GRCm39)	F246S	probably benign	Het
Nynrin	C	T	14: 56,108,931 (GRCm39)	A1346V	possibly damaging	Het
Or8k53	A	C	2: 86,177,686 (GRCm39)	C141W	probably damaging	Het
P2rx1	C	T	11: 72,900,474 (GRCm39)	P196L	probably damaging	Het
Pbx3	T	C	2: 34,260,830 (GRCm39)		probably benign	Het
Psen2	A	T	1: 180,073,232 (GRCm39)	S30T	probably benign	Het
Rack1	T	C	11: 48,694,298 (GRCm39)	V166A	probably benign	Het
Rpgrip1	A	G	14: 52,358,511 (GRCm39)	T206A	probably benign	Het
Rrp7a	A	G	15: 83,002,379 (GRCm39)		probably benign	Het
Slco1b2	C	T	6: 141,616,798 (GRCm39)	T377I	probably benign	Het
Spmip11	G	A	15: 98,469,006 (GRCm39)		probably null	Het
Sult2a6	A	T	7: 13,970,611 (GRCm39)	S162T	possibly damaging	Het
Syt2	A	G	1: 134,669,703 (GRCm39)	K115E	probably benign	Het
Tet1	A	G	10: 62,714,425 (GRCm39)	S457P	probably damaging	Het
Trbv3	A	G	6: 41,025,599 (GRCm39)	E63G	possibly damaging	Het
Unc13d	T	C	11: 115,961,145 (GRCm39)	Y404C	probably damaging	Het
Usp32	G	A	11: 84,900,837 (GRCm39)	R1128*	probably null	Het
Vps4a	G	A	8: 107,763,383 (GRCm39)		probably benign	Het
Ythdc2	T	A	18: 44,980,921 (GRCm39)	H505Q	probably damaging	Het
Ywhab	T	A	2: 163,858,057 (GRCm39)	L208Q	probably damaging	Het
Zfyve16	T	C	13: 92,641,022 (GRCm39)	K1241E	probably benign	Het

Other mutations in Ccdc110

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01898:Ccdc110	APN	8	46,395,161 (GRCm39)	missense	possibly damaging	0.76
IGL02175:Ccdc110	APN	8	46,393,660 (GRCm39)	missense	probably benign	0.07
IGL02471:Ccdc110	APN	8	46,394,793 (GRCm39)	missense	probably benign	0.14
IGL02887:Ccdc110	APN	8	46,396,221 (GRCm39)	missense	probably benign	0.01
IGL03227:Ccdc110	APN	8	46,394,586 (GRCm39)	missense	probably damaging	1.00
IGL03238:Ccdc110	APN	8	46,394,859 (GRCm39)	missense	probably benign	0.00
droll	UTSW	8	46,395,864 (GRCm39)	missense	probably benign	0.10
humorless	UTSW	8	46,396,487 (GRCm39)	missense	probably benign	0.03
R0049:Ccdc110	UTSW	8	46,395,663 (GRCm39)	missense	probably damaging	1.00
R0049:Ccdc110	UTSW	8	46,395,663 (GRCm39)	missense	probably damaging	1.00
R0110:Ccdc110	UTSW	8	46,388,194 (GRCm39)	missense	probably benign	0.00
R0189:Ccdc110	UTSW	8	46,388,119 (GRCm39)	missense	probably damaging	0.98
R0218:Ccdc110	UTSW	8	46,387,761 (GRCm39)	splice site	probably benign
R0280:Ccdc110	UTSW	8	46,396,487 (GRCm39)	missense	probably benign	0.03
R0332:Ccdc110	UTSW	8	46,396,001 (GRCm39)	nonsense	probably null
R0371:Ccdc110	UTSW	8	46,395,843 (GRCm39)	missense	possibly damaging	0.86
R0469:Ccdc110	UTSW	8	46,388,194 (GRCm39)	missense	probably benign	0.00
R0502:Ccdc110	UTSW	8	46,387,761 (GRCm39)	splice site	probably benign
R0510:Ccdc110	UTSW	8	46,388,194 (GRCm39)	missense	probably benign	0.00
R0534:Ccdc110	UTSW	8	46,388,175 (GRCm39)	missense	possibly damaging	0.73
R0647:Ccdc110	UTSW	8	46,396,425 (GRCm39)	missense	probably damaging	0.99
R0714:Ccdc110	UTSW	8	46,396,047 (GRCm39)	missense	possibly damaging	0.71
R0721:Ccdc110	UTSW	8	46,395,026 (GRCm39)	missense	probably benign
R1029:Ccdc110	UTSW	8	46,394,817 (GRCm39)	missense	probably damaging	0.98
R1147:Ccdc110	UTSW	8	46,397,121 (GRCm39)	missense	possibly damaging	0.64
R1147:Ccdc110	UTSW	8	46,397,121 (GRCm39)	missense	possibly damaging	0.64
R1170:Ccdc110	UTSW	8	46,394,922 (GRCm39)	missense	probably benign	0.22
R1340:Ccdc110	UTSW	8	46,395,218 (GRCm39)	missense	probably benign	0.02
R1540:Ccdc110	UTSW	8	46,395,362 (GRCm39)	nonsense	probably null
R1587:Ccdc110	UTSW	8	46,394,783 (GRCm39)	missense	probably benign	0.01
R1602:Ccdc110	UTSW	8	46,391,955 (GRCm39)	missense	probably benign	0.12
R1629:Ccdc110	UTSW	8	46,395,164 (GRCm39)	missense	probably benign	0.08
R1842:Ccdc110	UTSW	8	46,393,605 (GRCm39)	missense	probably damaging	1.00
R1933:Ccdc110	UTSW	8	46,396,287 (GRCm39)	missense	probably damaging	1.00
R1934:Ccdc110	UTSW	8	46,396,287 (GRCm39)	missense	probably damaging	1.00
R2006:Ccdc110	UTSW	8	46,396,349 (GRCm39)	missense	probably damaging	1.00
R2043:Ccdc110	UTSW	8	46,395,864 (GRCm39)	missense	probably benign	0.10
R2093:Ccdc110	UTSW	8	46,395,114 (GRCm39)	missense	probably damaging	1.00
R2165:Ccdc110	UTSW	8	46,395,876 (GRCm39)	missense	probably benign	0.00
R3613:Ccdc110	UTSW	8	46,395,843 (GRCm39)	missense	possibly damaging	0.86
R3923:Ccdc110	UTSW	8	46,395,426 (GRCm39)	missense	probably damaging	1.00
R4648:Ccdc110	UTSW	8	46,395,705 (GRCm39)	missense	possibly damaging	0.95
R4773:Ccdc110	UTSW	8	46,396,245 (GRCm39)	missense	probably damaging	1.00
R4901:Ccdc110	UTSW	8	46,396,437 (GRCm39)	missense	probably benign	0.35
R4911:Ccdc110	UTSW	8	46,395,944 (GRCm39)	missense	probably benign	0.00
R4923:Ccdc110	UTSW	8	46,396,460 (GRCm39)	missense	probably benign	0.29
R5104:Ccdc110	UTSW	8	46,395,729 (GRCm39)	missense	probably damaging	0.99
R5561:Ccdc110	UTSW	8	46,393,646 (GRCm39)	missense	probably benign	0.02
R5966:Ccdc110	UTSW	8	46,395,573 (GRCm39)	missense	probably damaging	1.00
R5976:Ccdc110	UTSW	8	46,396,536 (GRCm39)	missense	possibly damaging	0.71
R6141:Ccdc110	UTSW	8	46,394,807 (GRCm39)	missense	possibly damaging	0.89
R6326:Ccdc110	UTSW	8	46,395,078 (GRCm39)	missense	probably damaging	1.00
R6366:Ccdc110	UTSW	8	46,396,425 (GRCm39)	missense	probably damaging	0.99
R6405:Ccdc110	UTSW	8	46,394,734 (GRCm39)	nonsense	probably null
R6482:Ccdc110	UTSW	8	46,395,825 (GRCm39)	missense	probably benign	0.00
R6815:Ccdc110	UTSW	8	46,395,024 (GRCm39)	missense	probably benign	0.19
R7387:Ccdc110	UTSW	8	46,395,233 (GRCm39)	missense	probably benign	0.00
R7680:Ccdc110	UTSW	8	46,394,688 (GRCm39)	missense	possibly damaging	0.64
R8099:Ccdc110	UTSW	8	46,395,130 (GRCm39)	missense	probably damaging	1.00
R8114:Ccdc110	UTSW	8	46,396,140 (GRCm39)	missense	probably damaging	1.00
R8151:Ccdc110	UTSW	8	46,395,830 (GRCm39)	missense	probably damaging	1.00
R8295:Ccdc110	UTSW	8	46,396,416 (GRCm39)	missense	probably damaging	0.97
R8532:Ccdc110	UTSW	8	46,396,032 (GRCm39)	missense	probably damaging	1.00
R9072:Ccdc110	UTSW	8	46,395,875 (GRCm39)	missense	probably benign	0.00
R9073:Ccdc110	UTSW	8	46,395,875 (GRCm39)	missense	probably benign	0.00
R9088:Ccdc110	UTSW	8	46,394,882 (GRCm39)	missense	probably damaging	0.99
R9803:Ccdc110	UTSW	8	46,395,626 (GRCm39)	missense	probably benign
X0053:Ccdc110	UTSW	8	46,395,998 (GRCm39)	missense	possibly damaging	0.56
X0054:Ccdc110	UTSW	8	46,394,880 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16