Mutagenetix > Incidental Mutation

Incidental Mutation 'R0721:Ccdc110'

63539

Institutional Source

Beutler Lab

Gene Symbol

Ccdc110

Ensembl Gene

ENSMUSG00000071104

Gene Name

coiled-coil domain containing 110

Synonyms

LOC212392

MMRRC Submission

038903-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R0721 (G1)

Quality Score

123

Status

Not validated

Chromosome

Chromosomal Location

46387656-46397182 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46395026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 306 (M306L)

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: M306L

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

SMART Domains

Protein: ENSMUSP00000092964
Gene: ENSMUSG00000071104
AA Change: M306L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174815

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 5 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cyp4f18	A	G	8: 72,754,979 (GRCm39)	V117A	probably benign	Het
Glmp	G	T	3: 88,233,452 (GRCm39)	E136*	probably null	Het
Myrf	C	T	19: 10,193,444 (GRCm39)	V773M	probably damaging	Het
Plb1	T	A	5: 32,521,539 (GRCm39)	S1463R	unknown	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	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
IGL02524:Ccdc110	APN	8	46,394,979 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TGCAAACTTAGACGACATCTGCCAC -3'
(R):5'- GCTGACTATGAACGCTTGGCCTTC -3'

Sequencing Primer
(F):5'- TCTGCCACTCGATCAAGC -3'
(R):5'- CTCGGGAGTGGAACTTTAAATCC -3'

Posted On

2013-07-30