Mutagenetix > Incidental Mutation

Incidental Mutation 'R1029:Ccdc110'

95149

Institutional Source

Beutler Lab

Gene Symbol

Ccdc110

Ensembl Gene

ENSMUSG00000071104

Gene Name

coiled-coil domain containing 110

Synonyms

LOC212392

MMRRC Submission

039131-MU

Accession Numbers

Essential gene?

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

Stock #

R1029 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46387656-46397182 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46394817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 236 (F236S)

Ref Sequence

ENSEMBL: ENSMUSP00000092964 (fasta)

Gene Model

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

AlphaFold

Q3V125

Predicted Effect

probably damaging
Transcript: ENSMUST00000095326
AA Change: F236S

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092964
Gene: ENSMUSG00000071104
AA Change: F236S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174815

Meta Mutation Damage Score

0.5610

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.2%
20x: 94.5%

Validation Efficiency

92% (36/39)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	A	G	11: 30,376,177 (GRCm39)	L230S	probably damaging	Het
4930505A04Rik	A	G	11: 30,396,389 (GRCm39)		probably benign	Het
Atg2b	A	G	12: 105,602,032 (GRCm39)	I1648T	probably damaging	Het
Ccdc178	T	C	18: 22,230,782 (GRCm39)	D363G	possibly damaging	Het
Cntn5	T	A	9: 9,831,577 (GRCm39)	D601V	probably damaging	Het
Cog7	C	T	7: 121,529,752 (GRCm39)		probably null	Het
Dnah7c	A	G	1: 46,651,881 (GRCm39)	K1365E	probably damaging	Het
Dock9	T	C	14: 121,837,096 (GRCm39)		probably null	Het
Ehd3	T	A	17: 74,123,321 (GRCm39)	I108N	probably benign	Het
Erbb4	A	G	1: 68,348,773 (GRCm39)	S535P	probably damaging	Het
Fam170a	T	C	18: 50,414,741 (GRCm39)	V129A	probably damaging	Het
Gfra3	T	C	18: 34,823,892 (GRCm39)	T361A	probably benign	Het
Gm10295	A	T	7: 71,000,448 (GRCm39)	I44K	unknown	Het
Gm10553	T	C	1: 85,078,170 (GRCm39)	S96P	probably benign	Het
Gm21738	T	A	14: 19,415,957 (GRCm38)	Y194F	probably benign	Het
Hspa13	A	T	16: 75,562,125 (GRCm39)	Y25N	probably damaging	Het
Lrfn3	G	A	7: 30,055,347 (GRCm39)	P533S	probably damaging	Het
Lrp4	A	G	2: 91,317,372 (GRCm39)		probably benign	Het
Mical3	T	C	6: 120,911,639 (GRCm39)	D1991G	probably benign	Het
Myoz1	A	G	14: 20,700,600 (GRCm39)	Y206H	probably damaging	Het
Or2at1	A	T	7: 99,416,431 (GRCm39)	I21F	probably benign	Het
Otog	A	G	7: 45,924,019 (GRCm39)	E1126G	probably damaging	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 142,526,889 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,472,613 (GRCm39)		probably benign	Het
Pttg1ip2	C	T	5: 5,505,919 (GRCm39)	A121T	probably benign	Het
Rab7	A	G	6: 87,990,624 (GRCm39)	S17P	probably damaging	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Sppl2a	A	G	2: 126,765,514 (GRCm39)	S203P	probably benign	Het
Taar7a	A	G	10: 23,868,439 (GRCm39)	I314T	possibly damaging	Het
Tgs1	T	C	4: 3,593,471 (GRCm39)	I453T	probably damaging	Het
Tmem117	C	A	15: 94,909,217 (GRCm39)	T210N	probably benign	Het
Trim55	A	G	3: 19,698,906 (GRCm39)	N45S	probably damaging	Het
Ugt2b34	G	C	5: 87,052,246 (GRCm39)	S250*	probably null	Het
Vmn2r67	G	A	7: 84,785,974 (GRCm39)	T677I	probably damaging	Het
Zfp335	C	G	2: 164,734,598 (GRCm39)		probably benign	Het
Znrf1	T	A	8: 112,263,986 (GRCm39)	Y72N	probably damaging	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
R0721:Ccdc110	UTSW	8	46,395,026 (GRCm39)	missense	probably benign
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'- GGCCTGAGAACTACCGCTGATAAC -3'
(R):5'- CATGCAGTTTTGACACCGTGTCC -3'

Sequencing Primer
(F):5'- TACCGCTGATAACTCACCTCC -3'
(R):5'- AGCAGTTTGCTCACTAAGGC -3'

Posted On

2014-01-05