Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00977:Ccdc80'

29200

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc80

Ensembl Gene

ENSMUSG00000022665

Gene Name

coiled-coil domain containing 80

Synonyms

DRO1, Urb, Ssg1, 2610001E17Rik

Accession Numbers

Essential gene?

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

Stock #

IGL00977

Quality Score

Status

Chromosome

Chromosomal Location

44913770-44948287 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 44916627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 461 (T461K)

Ref Sequence

ENSEMBL: ENSMUSP00000097097 (fasta)

Gene Model

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

AlphaFold

Q8R2G6

Predicted Effect

probably benign
Transcript: ENSMUST00000061050
AA Change: T461K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000058752
Gene: ENSMUSG00000022665
AA Change: T461K

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 benign
Transcript: ENSMUST00000099498
AA Change: T461K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000097097
Gene: ENSMUSG00000022665
AA Change: T461K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134924

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138048

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139509

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155800

Coding Region Coverage

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,349,284 (GRCm39)	F3619L	probably damaging	Het
Asic5	T	A	3: 81,911,953 (GRCm39)	V183E	possibly damaging	Het
Atp2b1	T	C	10: 98,822,837 (GRCm39)	V164A	possibly damaging	Het
Bend3	A	G	10: 43,386,945 (GRCm39)	Q446R	possibly damaging	Het
Cep350	T	A	1: 155,808,611 (GRCm39)	E655V	probably null	Het
Chi3l1	T	C	1: 134,115,711 (GRCm39)	F232L	possibly damaging	Het
Degs1	T	A	1: 182,106,774 (GRCm39)	I162F	probably benign	Het
Dhdds	A	T	4: 133,727,571 (GRCm39)		probably benign	Het
Herc4	A	T	10: 63,147,346 (GRCm39)	Y821F	probably damaging	Het
Hpf1	A	G	8: 61,358,753 (GRCm39)	H303R	probably benign	Het
Kcnk10	A	T	12: 98,484,792 (GRCm39)	C115S	probably damaging	Het
Map3k13	T	C	16: 21,740,514 (GRCm39)	S614P	probably benign	Het
Me2	A	T	18: 73,924,248 (GRCm39)	N321K	probably benign	Het
Med16	A	T	10: 79,743,459 (GRCm39)	M1K	probably null	Het
Mycbp2	A	G	14: 103,410,078 (GRCm39)	F2651L	probably damaging	Het
Prrc2b	C	T	2: 32,103,822 (GRCm39)	T1100I	probably benign	Het
Scn9a	T	A	2: 66,314,645 (GRCm39)	Q1680L	probably damaging	Het
Sh3rf2	A	G	18: 42,244,283 (GRCm39)	T250A	probably benign	Het
Sting1	C	T	18: 35,867,620 (GRCm39)	E359K	probably damaging	Het
Tpp2	T	C	1: 44,022,451 (GRCm39)	F950L	possibly damaging	Het
Vmn2r129	C	A	4: 156,686,491 (GRCm39)		noncoding transcript	Het

Other mutations in Ccdc80

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01781:Ccdc80	APN	16	44,946,493 (GRCm39)	missense	probably damaging	1.00
IGL01945:Ccdc80	APN	16	44,938,608 (GRCm39)	missense	probably damaging	0.99
IGL02163:Ccdc80	APN	16	44,916,477 (GRCm39)	missense	probably benign
IGL02223:Ccdc80	APN	16	44,915,966 (GRCm39)	missense	probably damaging	1.00
IGL02573:Ccdc80	APN	16	44,915,952 (GRCm39)	missense	probably damaging	1.00
IGL02675:Ccdc80	APN	16	44,936,695 (GRCm39)	missense	probably damaging	1.00
IGL02689:Ccdc80	APN	16	44,916,772 (GRCm39)	nonsense	probably null
R0219:Ccdc80	UTSW	16	44,916,846 (GRCm39)	missense	probably damaging	1.00
R0383:Ccdc80	UTSW	16	44,915,732 (GRCm39)	missense	probably damaging	1.00
R1537:Ccdc80	UTSW	16	44,916,299 (GRCm39)	missense	probably benign	0.21
R1726:Ccdc80	UTSW	16	44,916,368 (GRCm39)	missense	probably benign	0.04
R1885:Ccdc80	UTSW	16	44,917,083 (GRCm39)	missense	probably benign	0.09
R2021:Ccdc80	UTSW	16	44,943,275 (GRCm39)	missense	probably damaging	1.00
R2140:Ccdc80	UTSW	16	44,947,809 (GRCm39)	missense	probably damaging	1.00
R2186:Ccdc80	UTSW	16	44,938,468 (GRCm39)	missense	probably damaging	1.00
R3896:Ccdc80	UTSW	16	44,916,984 (GRCm39)	missense	probably benign	0.11
R3941:Ccdc80	UTSW	16	44,916,455 (GRCm39)	missense	probably benign
R3971:Ccdc80	UTSW	16	44,916,183 (GRCm39)	missense	probably benign	0.22
R4082:Ccdc80	UTSW	16	44,943,290 (GRCm39)	missense	probably damaging	1.00
R4322:Ccdc80	UTSW	16	44,915,951 (GRCm39)	missense	probably damaging	1.00
R4578:Ccdc80	UTSW	16	44,915,849 (GRCm39)	missense	probably damaging	1.00
R4604:Ccdc80	UTSW	16	44,915,928 (GRCm39)	missense	probably damaging	1.00
R4868:Ccdc80	UTSW	16	44,924,776 (GRCm39)	missense	probably damaging	1.00
R4896:Ccdc80	UTSW	16	44,916,261 (GRCm39)	missense	probably benign
R4921:Ccdc80	UTSW	16	44,938,530 (GRCm39)	missense	probably damaging	1.00
R4979:Ccdc80	UTSW	16	44,936,650 (GRCm39)	missense	possibly damaging	0.90
R5452:Ccdc80	UTSW	16	44,938,528 (GRCm39)	missense	probably damaging	1.00
R5454:Ccdc80	UTSW	16	44,947,588 (GRCm39)	nonsense	probably null
R5594:Ccdc80	UTSW	16	44,936,626 (GRCm39)	missense	probably benign	0.00
R5661:Ccdc80	UTSW	16	44,947,808 (GRCm39)	missense	probably damaging	1.00
R5701:Ccdc80	UTSW	16	44,936,741 (GRCm39)	missense	possibly damaging	0.51
R6106:Ccdc80	UTSW	16	44,917,073 (GRCm39)	missense	probably benign	0.00
R6393:Ccdc80	UTSW	16	44,916,828 (GRCm39)	missense	possibly damaging	0.88
R6633:Ccdc80	UTSW	16	44,915,271 (GRCm39)	missense	possibly damaging	0.95
R6943:Ccdc80	UTSW	16	44,915,445 (GRCm39)	missense	probably benign	0.00
R7021:Ccdc80	UTSW	16	44,924,804 (GRCm39)	missense	probably damaging	1.00
R7030:Ccdc80	UTSW	16	44,943,252 (GRCm39)	missense	possibly damaging	0.60
R7208:Ccdc80	UTSW	16	44,917,073 (GRCm39)	missense	probably benign	0.12
R7486:Ccdc80	UTSW	16	44,946,542 (GRCm39)	missense	probably damaging	1.00
R7490:Ccdc80	UTSW	16	44,916,763 (GRCm39)	missense	probably damaging	1.00
R7539:Ccdc80	UTSW	16	44,915,445 (GRCm39)	missense	probably benign	0.01
R7562:Ccdc80	UTSW	16	44,943,266 (GRCm39)	missense	probably damaging	1.00
R7723:Ccdc80	UTSW	16	44,946,798 (GRCm39)	splice site	probably null
R7739:Ccdc80	UTSW	16	44,916,186 (GRCm39)	missense	probably benign	0.06
R7740:Ccdc80	UTSW	16	44,924,888 (GRCm39)	missense	possibly damaging	0.67
R8034:Ccdc80	UTSW	16	44,943,238 (GRCm39)	missense	probably damaging	0.96
R8150:Ccdc80	UTSW	16	44,947,792 (GRCm39)	missense	probably damaging	1.00
R8420:Ccdc80	UTSW	16	44,915,612 (GRCm39)	missense	possibly damaging	0.70
R8843:Ccdc80	UTSW	16	44,947,470 (GRCm39)	intron	probably benign
R8983:Ccdc80	UTSW	16	44,924,780 (GRCm39)	missense	possibly damaging	0.92
R9263:Ccdc80	UTSW	16	44,915,949 (GRCm39)	missense	probably damaging	0.99
R9570:Ccdc80	UTSW	16	44,915,449 (GRCm39)	missense	probably benign	0.13
R9584:Ccdc80	UTSW	16	44,915,675 (GRCm39)	missense	probably damaging	0.99
X0012:Ccdc80	UTSW	16	44,916,788 (GRCm39)	missense	probably benign	0.26
Z1176:Ccdc80	UTSW	16	44,936,707 (GRCm39)	missense	probably damaging	1.00
Z1176:Ccdc80	UTSW	16	44,916,570 (GRCm39)	missense	probably benign	0.43
Z1176:Ccdc80	UTSW	16	44,916,149 (GRCm39)	nonsense	probably null

Posted On

2013-04-17