Mutagenetix > Incidental Mutations

Incidental Mutation 'R0280:Ccdc110'

37461

Institutional Source

Beutler Lab

Gene Symbol

Ccdc110

Ensembl Gene

ENSMUSG00000071104

Gene Name

coiled-coil domain containing 110

Synonyms

LOC212392

MMRRC Submission

038502-MU

Accession Numbers

Genbank: NM_001033246; MGI: 2685018

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R0280 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45934619-45944145 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45943450 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 793 (N793Y)

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: N793Y

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000092964
Gene: ENSMUSG00000071104
AA Change: N793Y

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174815

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Adam18	C	T	8: 24,674,054	G38R	probably benign	Het
Ankrd16	T	G	2: 11,781,501	V187G	probably damaging	Het
AU019823	T	C	9: 50,609,379	T123A	probably damaging	Het
Ccdc170	T	C	10: 4,558,663	I629T	possibly damaging	Het
Clcn6	A	G	4: 148,008,715	L836P	probably damaging	Het
Colgalt2	G	T	1: 152,508,561	A551S	possibly damaging	Het
Crocc	T	C	4: 141,028,426	E1097G	probably damaging	Het
Csmd1	A	T	8: 16,271,602	V494E	probably damaging	Het
Drg1	A	T	11: 3,256,537		probably null	Het
Dscam	T	C	16: 97,039,006	K134E	possibly damaging	Het
Dyrk1b	T	C	7: 28,184,312	Y198H	probably damaging	Het
Esr1	A	G	10: 4,856,951	D289G	probably benign	Het
Esr1	G	T	10: 4,939,289	V396F	probably damaging	Het
Evi5l	T	C	8: 4,193,133	V339A	probably damaging	Het
Fat4	A	T	3: 38,890,816	Q1286L	probably benign	Het
Frem1	T	C	4: 82,969,444	H1118R	probably damaging	Het
Fuk	A	T	8: 110,894,748	V188D	probably damaging	Het
Fut9	C	T	4: 25,619,852	D321N	probably benign	Het
Gaa	T	G	11: 119,284,547	V917G	probably damaging	Het
Gm973	GCC	GC	1: 59,544,680		probably null	Het
Kidins220	A	G	12: 25,010,141	T767A	probably damaging	Het
Kif7	A	G	7: 79,698,823	S1257P	probably benign	Het
Ltn1	A	G	16: 87,397,838	L1391P	probably damaging	Het
Mast3	A	G	8: 70,783,795	Y681H	probably damaging	Het
Mast3	A	G	8: 70,787,920	V291A	possibly damaging	Het
Metrn	C	T	17: 25,795,135	R239H	probably benign	Het
Mphosph10	C	A	7: 64,376,703	K666N	possibly damaging	Het
Mtbp	C	T	15: 55,586,461	T433I	probably benign	Het
Mtmr2	A	G	9: 13,799,249	K365E	probably damaging	Het
Nanog	A	G	6: 122,713,398	D229G	probably damaging	Het
Npepps	T	C	11: 97,241,014	N338S	possibly damaging	Het
Nphp4	T	A	4: 152,551,936		probably benign	Het
Olfr1279	T	C	2: 111,307,072	F289S	possibly damaging	Het
Plcl2	A	G	17: 50,607,034	E357G	probably damaging	Het
Polb	A	T	8: 22,640,392	Y173N	probably damaging	Het
R3hdm1	T	A	1: 128,162,775	S74T	probably benign	Het
Raet1d	T	A	10: 22,370,883	C37S	probably damaging	Het
Reln	G	A	5: 22,227,513		probably benign	Het
Rps6kc1	T	C	1: 190,809,000	S369G	probably damaging	Het
Sgf29	A	G	7: 126,671,571	E108G	probably benign	Het
Sh3tc1	A	G	5: 35,706,017	L942P	probably damaging	Het
Slc22a27	A	T	19: 7,896,822	L188*	probably null	Het
Slc9a3	T	A	13: 74,159,424	I445N	probably damaging	Het
Sufu	A	T	19: 46,450,673		probably benign	Het
Tomm40	G	A	7: 19,713,751	T118I	probably damaging	Het
Ttc25	A	T	11: 100,550,265	K107N	probably damaging	Het
Ttn	C	T	2: 76,740,479	R26690H	probably damaging	Het
Vmn2r16	A	G	5: 109,340,139	I293V	possibly damaging	Het
Vmn2r68	T	A	7: 85,233,249		probably benign	Het
Vmn2r68	C	G	7: 85,233,258		probably null	Het
Vsig8	A	G	1: 172,561,538	D119G	probably benign	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
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'- CACCAAGTTCGAAAATAGCATCAGTCG -3'
(R):5'- TCCCAAAGACGCTAGGTAAACATTCAG -3'

Sequencing Primer
(F):5'- TCGGCTCACCGAAGACAAG -3'
(R):5'- aggcatccctgaaagaagac -3'

Posted On

2013-05-23