Mutagenetix > Incidental Mutation

Incidental Mutation 'R9803:Ccdc110'

735321

Institutional Source

Beutler Lab

Gene Symbol

Ccdc110

Ensembl Gene

ENSMUSG00000071104

Gene Name

coiled-coil domain containing 110

Synonyms

LOC212392

MMRRC Submission

Accession Numbers

Genbank: NM_001033246; MGI: 2685018

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R9803 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45934619-45944145 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45942589 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 506 (S506G)

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: S506G

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

SMART Domains

Protein: ENSMUSP00000092964
Gene: ENSMUSG00000071104
AA Change: S506G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174815

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	G	5: 113,703,903	S52P	unknown	Het
Ank2	A	G	3: 126,959,077	M330T	possibly damaging	Het
Ankar	C	T	1: 72,659,181	V905I	possibly damaging	Het
Anln	G	T	9: 22,372,222	D438E	probably damaging	Het
C1ql3	T	C	2: 13,004,389	N215S	probably damaging	Het
Ccdc87	A	G	19: 4,841,147	T556A	probably benign	Het
Cma1	A	T	14: 55,941,729	N236K	probably benign	Het
Csmd2	T	C	4: 128,369,193	F724S		Het
Cts8	T	C	13: 61,253,322	K130R	possibly damaging	Het
Daam1	A	T	12: 71,944,148	T179S	unknown	Het
Fancd2os	T	C	6: 113,597,977	T23A	possibly damaging	Het
Gbgt1	T	A	2: 28,504,854	I168N	probably damaging	Het
Gckr	G	A	5: 31,300,024	G127D	probably damaging	Het
Gm11444	G	A	11: 85,846,873	Q164*	probably null	Het
Gm28042	T	A	2: 120,038,503	V526E	possibly damaging	Het
Gm8947	T	C	1: 151,192,971	V185A	possibly damaging	Het
Hoxd13	C	A	2: 74,668,903	H198Q	possibly damaging	Het
Hps6	T	A	19: 46,005,508	L628*	probably null	Het
Igha	G	A	12: 113,259,139	H221Y		Het
Ighm	A	G	12: 113,419,015	S453P		Het
Inpp5f	A	C	7: 128,676,791	D435A	possibly damaging	Het
Lfng	A	G	5: 140,607,773	T120A	probably damaging	Het
Lrrc4	C	T	6: 28,662,200	A172T	probably benign	Het
Lrrc56	A	G	7: 141,207,607	T386A	probably benign	Het
Mapkbp1	A	T	2: 120,010,775	H81L	probably benign	Het
Mfsd14b	C	A	13: 65,073,600	V293L	probably benign	Het
Mrto4	T	A	4: 139,349,070	N70I	probably damaging	Het
Mxra8	C	T	4: 155,839,825		probably benign	Het
Myo1h	A	G	5: 114,345,936	E548G		Het
Ncan	C	T	8: 70,108,101	D739N	probably benign	Het
Olfr315	T	C	11: 58,778,769	V214A	probably benign	Het
Oxgr1	T	C	14: 120,022,151	T215A	possibly damaging	Het
Pcdhgb7	T	A	18: 37,752,035	V86E	probably damaging	Het
Pclo	G	A	5: 14,712,615	V416M		Het
Phf3	G	T	1: 30,830,791	T392K	probably benign	Het
Pkhd1	A	T	1: 20,566,849	V379E	probably damaging	Het
Ppfia3	T	C	7: 45,341,115	Y1080C	probably benign	Het
Ptprs	C	A	17: 56,422,217	G1254C	probably damaging	Het
Qsox1	A	T	1: 155,782,670	D384E	probably benign	Het
Rergl	A	G	6: 139,500,763	F23L	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Sidt2	A	G	9: 45,943,614	Y588H	probably damaging	Het
Tas2r139	T	A	6: 42,141,132	I66K	probably damaging	Het
Tbc1d30	T	A	10: 121,272,075	D474V	probably damaging	Het
Tenm4	G	A	7: 96,553,478	G100D	probably damaging	Het
Tmem258	G	A	19: 10,207,273	V75I	probably benign	Het
Tmem91	G	T	7: 25,670,563	H95N	probably damaging	Het
Trps1	T	C	15: 50,846,694	K87E	possibly damaging	Het
Tspan11	T	A	6: 127,943,717	M209K	probably benign	Het
Tspan17	C	A	13: 54,793,279	Q124K	probably benign	Het
Uts2b	G	A	16: 27,360,942	R105*	probably null	Het
Vmn2r110	T	A	17: 20,583,468	T282S	probably benign	Het
Xdh	T	A	17: 73,922,460	M333L	probably benign	Het
Zbtb3	A	G	19: 8,804,469	E482G	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
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
R8099:Ccdc110	UTSW	8	45942093	missense	probably damaging	1.00
R8114:Ccdc110	UTSW	8	45943103	missense	probably damaging	1.00
R8151:Ccdc110	UTSW	8	45942793	missense	probably damaging	1.00
R8295:Ccdc110	UTSW	8	45943379	missense	probably damaging	0.97
R8532:Ccdc110	UTSW	8	45942995	missense	probably damaging	1.00
R9072:Ccdc110	UTSW	8	45942838	missense	probably benign	0.00
R9073:Ccdc110	UTSW	8	45942838	missense	probably benign	0.00
R9088:Ccdc110	UTSW	8	45941845	missense	probably damaging	0.99
X0053:Ccdc110	UTSW	8	45942961	missense	possibly damaging	0.56
X0054:Ccdc110	UTSW	8	45941843	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCGTCGCCAAAATTCATTAC -3'
(R):5'- GCCATGTCACTTTGGGACTTG -3'

Sequencing Primer
(F):5'- GTCGCCAAAATTCATTACCTACAG -3'
(R):5'- CCATGTCACTTTGGGACTTGTGTTC -3'

Posted On

2022-11-14