Mutagenetix > Incidental Mutation

Incidental Mutation 'RF008:Ccdc85c'

603004

Institutional Source

Beutler Lab

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: 0.174) question?

Stock #

RF008 (G1)

Quality Score

138.468

Status

Not validated

Chromosome

Chromosomal Location

108169861-108241684 bp(-) (GRCm39)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

CC to CCGGC at 108240887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152421 (fasta)

Gene Model

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

AlphaFold

E9Q6B2

Predicted Effect

probably benign
Transcript: ENSMUST00000136175

SMART Domains

Protein: ENSMUSP00000125757
Gene: ENSMUSG00000084883

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

Predicted Effect

probably benign
Transcript: ENSMUST00000222310

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

100% (45/45)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	CCACGACC	CCACGACCACGACC	16: 56,447,952 (GRCm39)		probably benign	Het
Acan	T	G	7: 78,742,148 (GRCm39)	V515G	possibly damaging	Het
Acap3	TGG	TGGACTGCTGCATCCAGG	4: 155,989,555 (GRCm39)		probably benign	Het
AI837181	G	GGCT	19: 5,475,266 (GRCm39)		probably benign	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,693,977 (GRCm39)		probably benign	Het
Anks1b	G	A	10: 89,869,087 (GRCm39)	G49D	probably damaging	Het
Arid1b	GCG	GCGACG	17: 5,045,869 (GRCm39)		probably benign	Het
Arid1b	CGG	CGGAGG	17: 5,045,870 (GRCm39)		probably benign	Het
Begain	G	GCCGCCC	12: 108,999,363 (GRCm39)		probably null	Het
Cacna1e	A	G	1: 154,317,882 (GRCm39)	M1500T	probably damaging	Het
Casp16	C	A	17: 23,774,201 (GRCm39)		probably benign	Het
Ccdc174	T	C	6: 91,876,347 (GRCm39)	S395P	possibly damaging	Het
Ccdc7a	T	G	8: 129,691,434 (GRCm39)	Q396H	probably damaging	Het
Cemip	T	C	7: 83,610,843 (GRCm39)	T704A	probably damaging	Het
Cfap68	C	T	9: 50,677,067 (GRCm39)	R8H	probably benign	Het
Col7a1	C	T	9: 108,793,547 (GRCm39)	P1370S	unknown	Het
Cts8	T	C	13: 61,397,102 (GRCm39)	I273V	probably benign	Het
Cyp2c50	T	A	19: 40,078,268 (GRCm39)	I42N	probably damaging	Het
Dbt	T	G	3: 116,341,717 (GRCm39)	Y439*	probably null	Het
Dennd1b	T	A	1: 138,981,135 (GRCm39)	D116E	probably damaging	Het
Dkk2	T	A	3: 131,883,863 (GRCm39)	H254Q	probably damaging	Het
Dpy30	C	A	17: 74,622,902 (GRCm39)	V27F	possibly damaging	Het
Efhd2	GCCGCC	GCCGCCCCCGCC	4: 141,602,069 (GRCm39)		probably benign	Het
Eif4g3	A	T	4: 137,903,235 (GRCm39)	E1020V	probably damaging	Het
Elmo1	T	A	13: 20,458,706 (GRCm39)	S156T	probably benign	Het
Fancd2os	T	C	6: 113,574,881 (GRCm39)	T42A	probably damaging	Het
Fbrsl1	TGTGC	TGTGCGGGTGTGGGTGC	5: 110,525,984 (GRCm39)		probably benign	Het
Fsip2	T	C	2: 82,808,184 (GRCm39)	V1501A	probably benign	Het
Gabrb2	A	G	11: 42,517,705 (GRCm39)	Y509C	probably damaging	Het
Gm8369	GTGT	GTGTTTGT	19: 11,489,118 (GRCm39)		probably null	Het
Gpr139	T	C	7: 118,744,090 (GRCm39)	D165G	probably benign	Het
Grik2	T	C	10: 49,120,480 (GRCm39)	E603G	probably damaging	Het
H13	G	A	2: 152,511,589 (GRCm39)	E30K	probably damaging	Het
Ifitm10	T	A	7: 141,882,330 (GRCm39)	M147L	unknown	Het
Itpkb	C	T	1: 180,160,887 (GRCm39)	R338W	probably damaging	Het
Kif1b	T	A	4: 149,336,195 (GRCm39)		probably null	Het
Krtap28-10	ACCACAGCCACAGCCACCACAGCCACAGCCACCACAGC	ACCACAGCCACAGCCACCACAGCCACAGCCACCACAGCCACAGCCACCACAGC	1: 83,019,974 (GRCm39)		probably benign	Het
Krtap28-10	AGCCACCACAGC	AGCCACCACAGCCACCGCCACCACAGC	1: 83,020,000 (GRCm39)		probably benign	Het
Krtap28-10	CAGCCA	CAGCCATAGCCA	1: 83,019,849 (GRCm39)		probably benign	Het
Krtap28-10	AGCCAC	AGCCACCGCCAC	1: 83,019,856 (GRCm39)		probably benign	Het
Las1l	AGTGG	AGTGGTGG	X: 94,984,422 (GRCm39)		probably benign	Het
Mical2	T	C	7: 111,922,833 (GRCm39)	Y613H	probably damaging	Het
Mlf2	C	A	6: 124,911,259 (GRCm39)	H91Q	probably benign	Het
Nat9	A	T	11: 115,074,212 (GRCm39)	I152N	probably damaging	Het
Or10d4c	T	C	9: 39,558,559 (GRCm39)	M179T	probably benign	Het
Or4a75	A	T	2: 89,447,711 (GRCm39)	I275N	possibly damaging	Het
Pdik1l	CACCAC	CACCACAACCAC	4: 134,006,822 (GRCm39)		probably benign	Het
Phldb2	T	C	16: 45,583,337 (GRCm39)	S1054G	probably damaging	Het
Pkhd1l1	TTTT	TTTTTTTTTTGTTT	15: 44,421,901 (GRCm39)		probably benign	Het
Plcg2	T	A	8: 118,300,263 (GRCm39)		probably null	Het
Polr1has	CACCACCACCACCACCAC	CACCACCACCACCACCACCACAACCACCACCACCACCAC	17: 37,275,946 (GRCm39)		probably benign	Het
Prdm16	T	A	4: 154,426,452 (GRCm39)	R444S	probably damaging	Het
Rgs6	T	C	12: 83,110,223 (GRCm39)	F163L	probably damaging	Het
Rnaseh2a	A	T	8: 85,686,687 (GRCm39)	L154*	probably null	Het
Rpp38	A	G	2: 3,330,072 (GRCm39)	S277P	unknown	Het
Setd1a	GGTAGTGGT	GGTAGTGGTTGTAGTGGT	7: 127,384,486 (GRCm39)		probably benign	Het
Shisa6	CGACAGCAGCAGAG	CG	11: 66,416,749 (GRCm39)		probably benign	Het
Slc27a2	T	A	2: 126,395,175 (GRCm39)	L34Q	possibly damaging	Het
Slc7a6	G	A	8: 106,922,030 (GRCm39)	V386I	probably benign	Het
Spry1	C	T	3: 37,697,264 (GRCm39)	T169I	possibly damaging	Het
Sry	TGCTGCTGCTG	TGCTGCTGCTGCTG	Y: 2,662,826 (GRCm39)		probably benign	Het
Stk24	A	T	14: 121,532,172 (GRCm39)	I275N	probably benign	Het
Strn	TC	TCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGGC	17: 78,984,716 (GRCm39)		probably null	Het
Tcp11l2	C	A	10: 84,449,388 (GRCm39)	P451Q	probably damaging	Het
Tfeb	AGC	AGCTGC	17: 48,097,027 (GRCm39)		probably benign	Het
Trappc9	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,673,138 (GRCm39)		probably benign	Het
V1ra8	A	G	6: 90,180,591 (GRCm39)	T265A	probably benign	Het
Zfp106	CTCCTGGCAGT	CT	2: 120,355,026 (GRCm39)		probably benign	Het
Zfp612	C	A	8: 110,816,193 (GRCm39)	H467N	probably damaging	Het
Zfp777	A	T	6: 48,018,982 (GRCm39)	Y317*	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
IGL02516:Ccdc85c	APN	12	108,241,160 (GRCm39)	missense	unknown
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
RF044:Ccdc85c	UTSW	12	108,240,871 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGACAGGTCATCCAGAGAC -3'
(R):5'- TCTGCTGTTTCCTGGACGAC -3'

Sequencing Primer
(F):5'- TTGCCGTCCGGAACCTTG -3'
(R):5'- TGTTTCCTGGACGACGACCG -3'

Posted On

2019-12-04