Mutagenetix > Incidental Mutation

Incidental Mutation 'R8034:Ccdc80'

618149

Institutional Source

Beutler Lab

Gene Symbol

Ccdc80

Ensembl Gene

ENSMUSG00000022665

Gene Name

coiled-coil domain containing 80

Synonyms

DRO1, Urb, Ssg1, 2610001E17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R8034 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45093402-45128077 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45122875 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 783 (I783V)

Ref Sequence

ENSEMBL: ENSMUSP00000058752 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061050] [ENSMUST00000099498]

AlphaFold

Q8R2G6

Predicted Effect

probably damaging
Transcript: ENSMUST00000061050
AA Change: I783V

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000058752
Gene: ENSMUSG00000022665
AA Change: I783V

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:DUF4174	141	270	2.2e-31	PFAM
low complexity region	294	308	N/A	INTRINSIC
low complexity region	335	380	N/A	INTRINSIC
low complexity region	482	497	N/A	INTRINSIC
coiled coil region	554	587	N/A	INTRINSIC
Pfam:DUF4174	614	748	3.1e-36	PFAM
Pfam:DUF4174	770	901	2.1e-36	PFAM
low complexity region	917	940	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000099498
AA Change: I783V

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097097
Gene: ENSMUSG00000022665
AA Change: I783V

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:DUF4174	140	271	8.9e-34	PFAM
low complexity region	294	308	N/A	INTRINSIC
low complexity region	335	380	N/A	INTRINSIC
low complexity region	482	497	N/A	INTRINSIC
coiled coil region	554	587	N/A	INTRINSIC
Pfam:DUF4174	613	749	1.4e-21	PFAM
Pfam:DUF4174	769	902	3.5e-39	PFAM
low complexity region	917	940	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit increased adiposity, hyperglycemia, glucose intolerance, impaired insulin secretion, and altered energy intake and expenditure when fed a high-fat diet. Mice homozygous for a different null allele develop thyroid adenomas and ovarian carcinomas. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	A	G	7: 101,394,773	T680A	probably damaging	Het
Asb3	C	A	11: 31,081,554	Y391*	probably null	Het
BC067074	A	T	13: 113,342,511	I1530F		Het
Bean1	CT	C	8: 104,182,032		probably null	Het
C130026I21Rik	T	A	1: 85,254,160	T180S	probably benign	Het
Ccnf	A	G	17: 24,231,831	V391A	probably damaging	Het
Cd5l	C	A	3: 87,365,964	A80E	possibly damaging	Het
Chmp2b	A	T	16: 65,546,883	M96K	probably benign	Het
Dennd4a	T	C	9: 64,888,568	S725P	probably benign	Het
Dnah6	T	C	6: 73,129,225	N1843S	probably damaging	Het
Dpy19l3	A	G	7: 35,749,856	F41L	probably benign	Het
Eif3e	A	T	15: 43,272,307	M112K	probably benign	Het
Faim	T	C	9: 98,992,733	V111A	possibly damaging	Het
Fat1	A	G	8: 44,951,691	E493G	probably benign	Het
Fsip2	A	G	2: 82,989,355	D5144G	possibly damaging	Het
Fuz	T	C	7: 44,896,260	M1T	probably null	Het
Ggcx	T	C	6: 72,428,604	V529A	possibly damaging	Het
Gm7145	A	T	1: 117,986,164	T259S	probably benign	Het
Gria2	T	G	3: 80,801,699	T59P	probably damaging	Het
H2-Q10	A	T	17: 35,470,441	I47F	probably damaging	Het
Heatr6	A	G	11: 83,753,909	N63D	probably benign	Het
Ints7	CCGGATCG	CCGGATCGGATCG	1: 191,613,068		probably null	Het
Ints7	GATCG	GATCGTATCG	1: 191,613,071		probably null	Het
Lcn6	T	A	2: 25,676,871	L19*	probably null	Het
Lhcgr	T	C	17: 88,742,356	T581A	probably damaging	Het
Map4k1	T	C	7: 28,988,148	I203T	probably damaging	Het
Mctp1	G	C	13: 76,891,551	L783F	probably damaging	Het
Mlf1	A	T	3: 67,384,588	M29L	probably damaging	Het
Npas3	T	A	12: 53,640,529	I159N	probably damaging	Het
Nup98	T	C	7: 102,145,723		probably null	Het
Olfr1238	A	G	2: 89,406,737	V114A	probably benign	Het
Olfr1464-ps1	A	G	19: 13,282,851	F69S	probably damaging	Het
Olfr572	A	T	7: 102,928,566	K313*	probably null	Het
Olfr734	T	C	14: 50,320,566	K90E	probably damaging	Het
Olfr867	A	G	9: 20,055,005	F35L	probably benign	Het
Olfr890	T	C	9: 38,143,677	Y176H	probably damaging	Het
Otud3	T	C	4: 138,895,800	S377G	probably benign	Het
Pclo	T	A	5: 14,521,200	S200T	probably damaging	Het
Pex6	G	C	17: 46,722,399	G616A	possibly damaging	Het
Pkhd1	T	A	1: 20,381,438	H2211L	possibly damaging	Het
Sec13	T	C	6: 113,735,089	K95R	probably benign	Het
Sema3c	T	C	5: 17,727,482	V661A	probably damaging	Het
Sema5a	A	G	15: 32,574,841	Y365C	probably damaging	Het
Sprr2h	A	T	3: 92,386,813	E61V	unknown	Het
Tead3	A	C	17: 28,333,229	V365G	probably damaging	Het
Trpm7	T	A	2: 126,846,199	N236I	probably damaging	Het
Ubxn2b	A	G	4: 6,191,167	E13G	probably benign	Het
Zfp639	C	A	3: 32,520,066	A280E	probably damaging	Het

Other mutations in Ccdc80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00977:Ccdc80	APN	16	45096264	missense	probably benign	0.07
IGL01781:Ccdc80	APN	16	45126130	missense	probably damaging	1.00
IGL01945:Ccdc80	APN	16	45118245	missense	probably damaging	0.99
IGL02163:Ccdc80	APN	16	45096114	missense	probably benign
IGL02223:Ccdc80	APN	16	45095603	missense	probably damaging	1.00
IGL02573:Ccdc80	APN	16	45095589	missense	probably damaging	1.00
IGL02675:Ccdc80	APN	16	45116332	missense	probably damaging	1.00
IGL02689:Ccdc80	APN	16	45096409	nonsense	probably null
R0219:Ccdc80	UTSW	16	45096483	missense	probably damaging	1.00
R0383:Ccdc80	UTSW	16	45095369	missense	probably damaging	1.00
R1537:Ccdc80	UTSW	16	45095936	missense	probably benign	0.21
R1726:Ccdc80	UTSW	16	45096005	missense	probably benign	0.04
R1885:Ccdc80	UTSW	16	45096720	missense	probably benign	0.09
R2021:Ccdc80	UTSW	16	45122912	missense	probably damaging	1.00
R2140:Ccdc80	UTSW	16	45127446	missense	probably damaging	1.00
R2186:Ccdc80	UTSW	16	45118105	missense	probably damaging	1.00
R3896:Ccdc80	UTSW	16	45096621	missense	probably benign	0.11
R3941:Ccdc80	UTSW	16	45096092	missense	probably benign
R3971:Ccdc80	UTSW	16	45095820	missense	probably benign	0.22
R4082:Ccdc80	UTSW	16	45122927	missense	probably damaging	1.00
R4322:Ccdc80	UTSW	16	45095588	missense	probably damaging	1.00
R4578:Ccdc80	UTSW	16	45095486	missense	probably damaging	1.00
R4604:Ccdc80	UTSW	16	45095565	missense	probably damaging	1.00
R4868:Ccdc80	UTSW	16	45104413	missense	probably damaging	1.00
R4896:Ccdc80	UTSW	16	45095898	missense	probably benign
R4921:Ccdc80	UTSW	16	45118167	missense	probably damaging	1.00
R4979:Ccdc80	UTSW	16	45116287	missense	possibly damaging	0.90
R5452:Ccdc80	UTSW	16	45118165	missense	probably damaging	1.00
R5454:Ccdc80	UTSW	16	45127225	nonsense	probably null
R5594:Ccdc80	UTSW	16	45116263	missense	probably benign	0.00
R5661:Ccdc80	UTSW	16	45127445	missense	probably damaging	1.00
R5701:Ccdc80	UTSW	16	45116378	missense	possibly damaging	0.51
R6106:Ccdc80	UTSW	16	45096710	missense	probably benign	0.00
R6393:Ccdc80	UTSW	16	45096465	missense	possibly damaging	0.88
R6633:Ccdc80	UTSW	16	45094908	missense	possibly damaging	0.95
R6943:Ccdc80	UTSW	16	45095082	missense	probably benign	0.00
R7021:Ccdc80	UTSW	16	45104441	missense	probably damaging	1.00
R7030:Ccdc80	UTSW	16	45122889	missense	possibly damaging	0.60
R7208:Ccdc80	UTSW	16	45096710	missense	probably benign	0.12
R7486:Ccdc80	UTSW	16	45126179	missense	probably damaging	1.00
R7490:Ccdc80	UTSW	16	45096400	missense	probably damaging	1.00
R7539:Ccdc80	UTSW	16	45095082	missense	probably benign	0.01
R7562:Ccdc80	UTSW	16	45122903	missense	probably damaging	1.00
R7723:Ccdc80	UTSW	16	45126435	splice site	probably null
R7739:Ccdc80	UTSW	16	45095823	missense	probably benign	0.06
R7740:Ccdc80	UTSW	16	45104525	missense	possibly damaging	0.67
R8150:Ccdc80	UTSW	16	45127429	missense	probably damaging	1.00
R8420:Ccdc80	UTSW	16	45095249	missense	possibly damaging	0.70
R8843:Ccdc80	UTSW	16	45127107	intron	probably benign
R8983:Ccdc80	UTSW	16	45104417	missense	possibly damaging	0.92
R9263:Ccdc80	UTSW	16	45095586	missense	probably damaging	0.99
R9570:Ccdc80	UTSW	16	45095086	missense	probably benign	0.13
R9584:Ccdc80	UTSW	16	45095312	missense	probably damaging	0.99
X0012:Ccdc80	UTSW	16	45096425	missense	probably benign	0.26
Z1176:Ccdc80	UTSW	16	45095786	nonsense	probably null
Z1176:Ccdc80	UTSW	16	45096207	missense	probably benign	0.43
Z1176:Ccdc80	UTSW	16	45116344	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACGGCTTTCAGAAACTGTGG -3'
(R):5'- CTGAGACAGTACTTTGAAAGCAAC -3'

Sequencing Primer
(F):5'- GCTTTCAGAAACTGTGGAAGAGTTC -3'
(R):5'- AATATGTGTCCGGGAATGTGCATC -3'

Posted On

2020-01-23