Mutagenetix > Incidental Mutation

Incidental Mutation 'R2140:Ccdc80'

236173

Institutional Source

Beutler Lab

Gene Symbol

Ccdc80

Ensembl Gene

ENSMUSG00000022665

Gene Name

coiled-coil domain containing 80

Synonyms

DRO1, Urb, Ssg1, 2610001E17Rik

MMRRC Submission

040143-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R2140 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45093402-45128077 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45127446 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 929 (Y929F)

Ref Sequence

ENSEMBL: ENSMUSP00000097097 (fasta)

Gene Model

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

AlphaFold

Q8R2G6

Predicted Effect

probably damaging
Transcript: ENSMUST00000061050
AA Change: Y929F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058752
Gene: ENSMUSG00000022665
AA Change: Y929F

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: Y929F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097097
Gene: ENSMUSG00000022665
AA Change: Y929F

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

Meta Mutation Damage Score

0.2494

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (96/96)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	T	C	14: 4,348,902	I21T	probably damaging	Het
9230110C19Rik	T	C	9: 8,022,477	D248G	probably damaging	Het
Adgrf1	A	C	17: 43,300,802	E186D	probably damaging	Het
Adgrf4	C	T	17: 42,666,898	R518Q	possibly damaging	Het
Afdn	A	G	17: 13,810,433	E202G	probably damaging	Het
Agfg2	T	A	5: 137,667,116	R126W	probably damaging	Het
Alkbh2	C	T	5: 114,125,716	V77I	probably benign	Het
Alppl2	A	G	1: 87,087,697	S381P	probably benign	Het
Aqp2	A	G	15: 99,579,366	T72A	probably damaging	Het
Atp9b	A	G	18: 80,736,087	C1123R	probably damaging	Het
AU016765	T	A	17: 64,520,000		noncoding transcript	Het
Bscl2	T	C	19: 8,845,320		probably null	Het
Cenpj	T	C	14: 56,526,932	D1341G	probably damaging	Het
Cir1	A	T	2: 73,312,437	S18T	probably damaging	Het
Clcn6	A	G	4: 148,024,137	F145S	possibly damaging	Het
Cnksr1	A	G	4: 134,229,628	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,122,806		probably null	Het
Crb1	T	C	1: 139,237,012	I1125V	probably benign	Het
Cyp3a13	A	T	5: 137,921,454	V20D	possibly damaging	Het
Dars	T	A	1: 128,372,162	M362L	probably benign	Het
Dck	T	C	5: 88,772,723	C101R	probably damaging	Het
Dnah11	T	C	12: 118,008,810	T2880A	probably benign	Het
Dnah7b	T	A	1: 46,268,670	M3048K	probably damaging	Het
Eef1a2	C	T	2: 181,148,742	E374K	probably benign	Het
Eif3a	A	T	19: 60,775,394		probably benign	Het
Esco1	A	G	18: 10,574,873		probably null	Het
Exoc8	C	T	8: 124,897,415	R71Q	possibly damaging	Het
Fam208a	C	T	14: 27,480,035	T1462I	probably damaging	Het
Far1	G	A	7: 113,566,460	V445M	possibly damaging	Het
Fbn1	C	A	2: 125,343,810	C1648F	probably damaging	Het
Fmn1	A	G	2: 113,595,048	K1189R	probably benign	Het
Foxl2	C	A	9: 98,956,487	P276H	unknown	Het
Fpr3	T	A	17: 17,970,617	V50E	probably damaging	Het
Garem1	T	A	18: 21,129,374	R794S	probably damaging	Het
Gemin4	G	C	11: 76,211,050	P962A	probably damaging	Het
Glyatl3	T	C	17: 40,911,084	D93G	probably benign	Het
Gm14124	A	T	2: 150,269,361	H657L	probably benign	Het
Gm4787	A	G	12: 81,378,562	I274T	probably benign	Het
Gucy1a1	C	T	3: 82,118,886		probably null	Het
Hook1	GATGAATGA	GATGA	4: 96,013,312	503	probably null	Het
Ift20	G	A	11: 78,540,034	E68K	probably damaging	Het
Ints13	A	G	6: 146,576,431	S7P	probably damaging	Het
Kat5	T	A	19: 5,605,685		probably null	Het
Kcnma1	A	C	14: 23,314,220	L988R	probably damaging	Het
Kcnq3	C	A	15: 66,005,978		probably benign	Het
Kctd16	A	G	18: 40,259,178	E273G	possibly damaging	Het
Krt82	T	A	15: 101,545,156	Q265L	probably damaging	Het
Lama2	A	T	10: 27,054,694		probably null	Het
Laptm4b	G	T	15: 34,238,332	M3I	probably benign	Het
Lmtk2	A	G	5: 144,147,615	Y156C	probably damaging	Het
Lrrc58	G	A	16: 37,881,409	E350K	probably damaging	Het
Lrrk1	A	T	7: 66,330,750	D227E	probably damaging	Het
Macf1	C	T	4: 123,355,102	C7210Y	probably damaging	Het
Madd	A	G	2: 91,152,509	I1363T	possibly damaging	Het
Mcm3	A	G	1: 20,813,110	V295A	probably benign	Het
Mki67	A	G	7: 135,695,592	I2571T	possibly damaging	Het
Mtrr	C	T	13: 68,568,940	A385T	possibly damaging	Het
Myh7b	A	G	2: 155,620,123	Y313C	probably damaging	Het
Myot	A	T	18: 44,354,125	H343L	possibly damaging	Het
Myt1	C	A	2: 181,825,979	Q1069K	probably damaging	Het
Nid1	T	A	13: 13,499,668	D877E	probably damaging	Het
Nle1	A	G	11: 82,905,568	V159A	probably damaging	Het
Nmbr	C	A	10: 14,770,442	Y353*	probably null	Het
Nos1ap	T	A	1: 170,329,166	D241V	probably damaging	Het
Nostrin	A	C	2: 69,166,003	Y209S	probably damaging	Het
Olfr1099	A	T	2: 86,959,281	M59K	probably damaging	Het
Olfr115	T	G	17: 37,610,471	E93D	probably benign	Het
Olfr1168	A	T	2: 88,185,095	S73C	probably benign	Het
Olfr1240	C	T	2: 89,439,583	R232H	probably benign	Het
Olfr283	G	A	15: 98,378,396	T238I	possibly damaging	Het
Olfr378	A	T	11: 73,425,881	M34K	probably damaging	Het
Pcdh7	T	A	5: 58,128,996	V1138E	probably damaging	Het
Pglyrp3	T	G	3: 92,026,567	V173G	probably benign	Het
Plec	T	C	15: 76,183,174	T1331A	probably benign	Het
Plxnb2	T	C	15: 89,156,562	D1787G	probably benign	Het
Pms1	T	A	1: 53,281,988	I29F	probably damaging	Het
Ptprt	G	A	2: 161,811,988	T574I	probably damaging	Het
R3hdm1	A	G	1: 128,190,693	Y561C	probably damaging	Het
Rab17	A	G	1: 90,960,078	F120S	probably benign	Het
Rab7b	T	A	1: 131,698,419	W62R	probably damaging	Het
Ryr2	C	T	13: 11,560,607	G4835E	probably damaging	Het
Ryr3	A	G	2: 112,875,148	V807A	probably benign	Het
Sept4	A	T	11: 87,583,436	Q60L	probably benign	Het
Slc23a1	C	T	18: 35,626,434	R26Q	unknown	Het
Slc7a4	C	A	16: 17,574,544	R342L	possibly damaging	Het
Slfn9	C	T	11: 82,984,655	C367Y	possibly damaging	Het
Slitrk6	T	G	14: 110,750,794	T494P	probably benign	Het
Tiam1	A	G	16: 89,849,645		probably benign	Het
Tiparp	C	A	3: 65,529,252		probably benign	Het
Tmem39b	T	C	4: 129,678,688	T374A	probably benign	Het
Trim5	G	A	7: 104,276,791	R188*	probably null	Het
Ttn	C	T	2: 76,813,339	G11436R	probably damaging	Het
Ubr4	C	T	4: 139,477,207	T4810M	probably damaging	Het
Vmn2r26	A	T	6: 124,061,237	E590D	probably benign	Het
Wwc1	A	G	11: 35,870,528	F650S	probably benign	Het
Xrcc6	T	A	15: 82,022,977	F167I	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
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
R8034:Ccdc80	UTSW	16	45122875	missense	probably damaging	0.96
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'- GAGCCCAGAGTACTTCTCCATG -3'
(R):5'- GTCTTAATAACAAGTCATGAGTAGGGG -3'

Sequencing Primer
(F):5'- CCATGCTTCTAGTTGGAAAAGATGGC -3'
(R):5'- CAAGTCATGAGTAGGGGAAAGTTTAC -3'

Posted On

2014-10-01