Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02516:Ccdc85c'

296787

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc85c

Ensembl Gene

ENSMUSG00000084883

Gene Name

coiled-coil domain containing 85C

Synonyms

hhy, Gm9010

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

IGL02516

Quality Score

Status

Chromosome

Chromosomal Location

108169861-108241684 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108241160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 78 (N78S)

Ref Sequence

ENSEMBL: ENSMUSP00000152421 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000136175] [ENSMUST00000222310]

AlphaFold

E9Q6B2

Predicted Effect

unknown
Transcript: ENSMUST00000136175
AA Change: N78S

SMART Domains

Protein: ENSMUSP00000125757
Gene: ENSMUSG00000084883
AA Change: N78S

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
Pfam:DUF2216	16	220	6.9e-99	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000222310
AA Change: N78S

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutant mice display hydrocephalus, intracranial hemorrhage due to ventricular dilatation, and heterotopia in the subcortical regions. Hydroencephaly usually becomes evident before 15 weeks of age and affected animals die within several days after notice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	C	T	8: 25,388,612 (GRCm39)	S364N	probably damaging	Het
Ano8	C	T	8: 71,937,721 (GRCm39)	G47D	probably damaging	Het
App	T	C	16: 84,752,305 (GRCm39)	T743A	probably damaging	Het
Armc3	A	G	2: 19,305,317 (GRCm39)	K692E	possibly damaging	Het
Arpp21	T	C	9: 112,014,729 (GRCm39)	N25S	probably damaging	Het
Avpr1b	G	A	1: 131,528,367 (GRCm39)	V297I	probably damaging	Het
Bpi	A	G	2: 158,109,651 (GRCm39)	I200V	possibly damaging	Het
Cacna2d4	C	T	6: 119,248,831 (GRCm39)		probably benign	Het
Cbarp	A	G	10: 79,971,379 (GRCm39)	Y149H	probably damaging	Het
Cdcp1	G	T	9: 123,002,702 (GRCm39)	L790M	possibly damaging	Het
Cdkn2d	T	A	9: 21,200,439 (GRCm39)	I111F	probably benign	Het
Ctsr	A	G	13: 61,310,992 (GRCm39)	V18A	probably benign	Het
Dapk1	A	G	13: 60,844,161 (GRCm39)	D60G	probably damaging	Het
Daw1	A	C	1: 83,186,949 (GRCm39)	N253T	probably benign	Het
Dcaf7	T	A	11: 105,942,698 (GRCm39)	I215N	probably damaging	Het
Ddc	A	C	11: 11,779,125 (GRCm39)	L333R	probably damaging	Het
Dennd1a	A	G	2: 37,742,406 (GRCm39)		probably null	Het
Dnah10	C	A	5: 124,864,395 (GRCm39)	T2200K	probably damaging	Het
Dock6	T	C	9: 21,713,881 (GRCm39)	Y1883C	probably damaging	Het
Ecpas	T	C	4: 58,877,102 (GRCm39)	E111G	probably damaging	Het
Eif2ak4	T	A	2: 118,266,735 (GRCm39)	I752N	probably damaging	Het
Fcho2	A	G	13: 98,866,720 (GRCm39)	I740T	probably benign	Het
Flnc	A	G	6: 29,450,840 (GRCm39)	D1496G	probably damaging	Het
Fn1	A	G	1: 71,676,482 (GRCm39)	V583A	possibly damaging	Het
Greb1l	A	C	18: 10,537,064 (GRCm39)	T1010P	probably benign	Het
Hs3st6	T	C	17: 24,977,105 (GRCm39)	L195P	probably damaging	Het
Hyi	A	G	4: 118,219,680 (GRCm39)	E239G	probably damaging	Het
Ighv2-3	G	T	12: 113,574,818 (GRCm39)	Y112*	probably null	Het
Ints3	A	G	3: 90,310,415 (GRCm39)	F495S	probably damaging	Het
Itih2	T	A	2: 10,102,728 (GRCm39)	H802L	probably benign	Het
Jag2	C	T	12: 112,874,186 (GRCm39)	V990M	probably damaging	Het
Kat6b	T	C	14: 21,659,936 (GRCm39)		probably benign	Het
Krtap4-8	C	T	11: 99,671,168 (GRCm39)		probably benign	Het
Lhx4	A	G	1: 155,578,003 (GRCm39)	S380P	probably damaging	Het
Morn3	C	A	5: 123,175,363 (GRCm39)	E33*	probably null	Het
Mug2	C	T	6: 122,047,802 (GRCm39)	A771V	probably damaging	Het
N4bp3	A	T	11: 51,535,161 (GRCm39)	S343T	probably benign	Het
Nlrp1a	T	C	11: 71,005,286 (GRCm39)	N643S	probably damaging	Het
Or2c1	A	C	16: 3,657,200 (GRCm39)	D121A	probably damaging	Het
Or2h1b	T	A	17: 37,462,163 (GRCm39)	R79S	possibly damaging	Het
Or6c8	T	A	10: 128,915,662 (GRCm39)	M57L	possibly damaging	Het
Phc3	A	G	3: 31,002,942 (GRCm39)	F192S	probably damaging	Het
Pigq	C	T	17: 26,156,221 (GRCm39)	R69H	probably benign	Het
Plk3	A	G	4: 116,989,186 (GRCm39)	C222R	probably damaging	Het
Pomt2	T	C	12: 87,166,420 (GRCm39)	T490A	probably benign	Het
Prss29	T	C	17: 25,539,875 (GRCm39)	I91T	probably damaging	Het
Ralgapb	A	T	2: 158,307,735 (GRCm39)		probably benign	Het
Sccpdh	G	A	1: 179,509,256 (GRCm39)	G75D	probably damaging	Het
Serpine2	T	C	1: 79,772,714 (GRCm39)		probably benign	Het
Sfr1	T	G	19: 47,721,429 (GRCm39)		probably null	Het
Slc22a23	C	A	13: 34,387,938 (GRCm39)	C386F	probably benign	Het
Slc22a27	T	C	19: 7,842,176 (GRCm39)	K433R	probably damaging	Het
Slc39a12	T	C	2: 14,405,146 (GRCm39)	L246P	probably damaging	Het
Slc4a11	A	G	2: 130,533,313 (GRCm39)	I191T	possibly damaging	Het
Slc9c1	A	G	16: 45,398,238 (GRCm39)	N668D	probably damaging	Het
Supt16	A	T	14: 52,421,421 (GRCm39)	D41E	possibly damaging	Het
Tamalin	G	A	15: 101,126,932 (GRCm39)	V137I	probably damaging	Het
Ugt2b37	A	G	5: 87,388,741 (GRCm39)	S491P	probably damaging	Het
Urb1	G	T	16: 90,569,583 (GRCm39)	T1381N	possibly damaging	Het
Usp8	A	G	2: 126,584,094 (GRCm39)	I423M	probably benign	Het
Vmn1r191	T	A	13: 22,363,710 (GRCm39)	I15F	probably benign	Het
Zbtb5	A	T	4: 44,993,798 (GRCm39)	Y529N	probably damaging	Het
Zfp541	T	A	7: 15,816,918 (GRCm39)		probably null	Het

Other mutations in Ccdc85c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01916:Ccdc85c	APN	12	108,174,103 (GRCm39)	missense	probably damaging	1.00
IGL02061:Ccdc85c	APN	12	108,188,002 (GRCm39)	missense	probably damaging	1.00
IGL02316:Ccdc85c	APN	12	108,177,829 (GRCm39)	missense	probably damaging	1.00
IGL03146:Ccdc85c	APN	12	108,173,395 (GRCm39)	nonsense	probably null
FR4304:Ccdc85c	UTSW	12	108,240,871 (GRCm39)	small insertion	probably benign
FR4449:Ccdc85c	UTSW	12	108,240,875 (GRCm39)	small insertion	probably benign
R4685:Ccdc85c	UTSW	12	108,173,434 (GRCm39)	missense	probably benign	0.33
R5048:Ccdc85c	UTSW	12	108,187,966 (GRCm39)	critical splice donor site	probably null
R5516:Ccdc85c	UTSW	12	108,174,109 (GRCm39)	missense	probably damaging	1.00
R5588:Ccdc85c	UTSW	12	108,177,793 (GRCm39)	missense	probably damaging	1.00
R6054:Ccdc85c	UTSW	12	108,241,028 (GRCm39)	missense	unknown
R6318:Ccdc85c	UTSW	12	108,240,968 (GRCm39)	missense	unknown
R7094:Ccdc85c	UTSW	12	108,240,877 (GRCm39)	frame shift	probably null
R8167:Ccdc85c	UTSW	12	108,240,759 (GRCm39)	missense	unknown
R9101:Ccdc85c	UTSW	12	108,240,917 (GRCm39)	missense	unknown
RF008:Ccdc85c	UTSW	12	108,240,887 (GRCm39)	small insertion	probably benign
RF044:Ccdc85c	UTSW	12	108,240,871 (GRCm39)	small insertion	probably benign

Posted On

2015-04-16