Mutagenetix > Incidental Mutation

Incidental Mutation 'R4685:Ccdc85c'

353629

Institutional Source

Beutler Lab

Gene Symbol

Ccdc85c

Ensembl Gene

ENSMUSG00000084883

Gene Name

coiled-coil domain containing 85C

Synonyms

hhy, Gm9010

MMRRC Submission

041936-MU

Accession Numbers

Essential gene?

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

Stock #

R4685 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108169861-108241684 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108173434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 387 (C387S)

Ref Sequence

ENSEMBL: ENSMUSP00000125757 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101055] [ENSMUST00000136175] [ENSMUST00000221167] [ENSMUST00000222310]

AlphaFold

E9Q6B2

Predicted Effect

probably benign
Transcript: ENSMUST00000101055

SMART Domains

Protein: ENSMUSP00000098616
Gene: ENSMUSG00000021258

Domain	Start	End	E-Value	Type
CYCLIN	55	149	6.67e-16	SMART
Cyclin_C	158	278	4.83e-1	SMART
CYCLIN	162	256	1.23e-1	SMART
low complexity region	342	361	N/A	INTRINSIC
low complexity region	365	392	N/A	INTRINSIC
low complexity region	404	427	N/A	INTRINSIC
low complexity region	428	446	N/A	INTRINSIC
low complexity region	457	471	N/A	INTRINSIC
low complexity region	476	576	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136175
AA Change: C387S

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125757
Gene: ENSMUSG00000084883
AA Change: C387S

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: ENSMUST00000221167

Predicted Effect

probably benign
Transcript: ENSMUST00000222310
AA Change: C374S

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0650

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (71/73)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	T	C	12: 17,057,185 (GRCm39)	D104G	probably damaging	Het
2810021J22Rik	T	C	11: 58,771,750 (GRCm39)	S411P	probably damaging	Het
Adcy2	T	C	13: 68,876,024 (GRCm39)	R493G	probably benign	Het
Adcy8	A	G	15: 64,609,287 (GRCm39)	I874T	probably benign	Het
Ano2	G	T	6: 125,957,087 (GRCm39)	E619*	probably null	Het
Apob	A	G	12: 8,056,456 (GRCm39)	K1613R	probably benign	Het
Arhgef10	T	A	8: 15,006,963 (GRCm39)	F476Y	probably damaging	Het
Bmf	G	A	2: 118,377,283 (GRCm39)	A74V	probably damaging	Het
Cadps	T	C	14: 12,467,139 (GRCm38)	E925G	possibly damaging	Het
Ccdc162	T	C	10: 41,557,682 (GRCm39)	D181G	possibly damaging	Het
Cntnap5a	T	C	1: 116,374,410 (GRCm39)	V974A	possibly damaging	Het
Cplx3	T	A	9: 57,516,483 (GRCm39)	I407F	probably damaging	Het
Dnah7b	T	C	1: 46,250,488 (GRCm39)	F1703S	probably damaging	Het
Dsg3	C	A	18: 20,672,793 (GRCm39)	D821E	probably benign	Het
Ecel1	G	T	1: 87,080,668 (GRCm39)		probably null	Het
Edn1	A	T	13: 42,458,729 (GRCm39)		probably null	Het
Egfr	G	A	11: 16,808,980 (GRCm39)	C58Y	probably damaging	Het
Fam184a	T	C	10: 53,574,596 (GRCm39)	N282D	probably benign	Het
Fhit	T	A	14: 9,870,091 (GRCm38)	Q63L	probably damaging	Het
Gabarapl2	T	C	8: 112,669,150 (GRCm39)	V36A	probably benign	Het
Glis1	T	C	4: 107,424,842 (GRCm39)	V151A	probably benign	Het
Gm12695	A	G	4: 96,650,217 (GRCm39)	S210P	probably damaging	Het
Gpat4	TAGAAGA	TAGA	8: 23,672,865 (GRCm39)		probably benign	Het
H2-M10.4	G	A	17: 36,772,688 (GRCm39)	A98V	probably benign	Het
Hhat	C	A	1: 192,277,362 (GRCm39)	G366C	probably damaging	Het
Hydin	C	A	8: 111,189,154 (GRCm39)	A1186E	probably damaging	Het
Itgb2	T	A	10: 77,385,937 (GRCm39)		probably null	Het
Kank1	C	T	19: 25,387,398 (GRCm39)	A329V	possibly damaging	Het
Kdm4b	T	A	17: 56,708,675 (GRCm39)	S1070T	probably benign	Het
Kyat1	A	G	2: 30,078,277 (GRCm39)	Y101H	probably damaging	Het
Map4k5	T	C	12: 69,858,140 (GRCm39)	K679R	probably benign	Het
Mill1	A	T	7: 17,989,853 (GRCm39)	D45V	probably damaging	Het
Myo3a	T	A	2: 22,412,233 (GRCm39)	Y743N	probably damaging	Het
Nox4	C	G	7: 86,946,716 (GRCm39)	I137M	probably benign	Het
Odf4	A	G	11: 68,813,665 (GRCm39)		probably null	Het
Ostf1	A	T	19: 18,558,652 (GRCm39)	D210E	probably damaging	Het
Paxip1	A	T	5: 27,966,675 (GRCm39)		probably null	Het
Pitrm1	A	G	13: 6,606,578 (GRCm39)	T211A	probably benign	Het
Pla2g4f	A	G	2: 120,135,496 (GRCm39)	S393P	probably damaging	Het
Plppr3	T	C	10: 79,703,359 (GRCm39)	T42A	probably damaging	Het
Plxna4	C	A	6: 32,142,779 (GRCm39)	G1559W	probably damaging	Het
Ppp1r13l	T	C	7: 19,109,308 (GRCm39)		probably null	Het
Prex1	C	T	2: 166,480,252 (GRCm39)	V163M	probably damaging	Het
Prl6a1	A	G	13: 27,500,307 (GRCm39)	T93A	probably benign	Het
Psg16	T	C	7: 16,824,459 (GRCm39)	V81A	probably benign	Het
Rbm33	A	T	5: 28,613,280 (GRCm39)		probably benign	Het
Rest	C	T	5: 77,423,090 (GRCm39)	P298L	possibly damaging	Het
Rhobtb3	G	A	13: 76,027,051 (GRCm39)	R441*	probably null	Het
Rims4	T	A	2: 163,706,914 (GRCm39)	K155*	probably null	Het
Rps6kb1	C	T	11: 86,410,713 (GRCm39)		probably null	Het
Ryr2	T	C	13: 11,707,532 (GRCm39)	D2835G	probably damaging	Het
Sc5d	C	T	9: 42,169,946 (GRCm39)	V92I	probably benign	Het
Sell	A	T	1: 163,893,829 (GRCm39)	I175F	probably damaging	Het
Serpinb6d	A	G	13: 33,855,211 (GRCm39)	D295G	probably damaging	Het
Sphk1	A	G	11: 116,426,106 (GRCm39)	D96G	probably damaging	Het
Spns3	A	T	11: 72,428,096 (GRCm39)	V228D	probably damaging	Het
Sspo	A	G	6: 48,469,828 (GRCm39)	S4500G	probably damaging	Het
Syt9	T	A	7: 107,035,678 (GRCm39)	C232S	possibly damaging	Het
Terf1	A	G	1: 15,889,185 (GRCm39)	I176V	possibly damaging	Het
Tln2	C	T	9: 67,209,854 (GRCm39)	A428T	probably damaging	Het
Tmprss7	T	C	16: 45,499,711 (GRCm39)	N321S	probably benign	Het
Tomm40	A	G	7: 19,435,761 (GRCm39)	I323T	probably benign	Het
Try5	T	A	6: 41,288,233 (GRCm39)	Q240L	possibly damaging	Het
Vmn1r213	A	T	13: 23,195,800 (GRCm39)	I128L	probably benign	Het
Vmn2r80	T	C	10: 79,030,162 (GRCm39)	F663L	possibly damaging	Het
Znfx1	T	A	2: 166,880,950 (GRCm39)	Y278F	probably damaging	Het
Zpbp2	A	G	11: 98,442,117 (GRCm39)		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CATAGCTAAGCCAGTGAGAAGC -3'
(R):5'- TTGTGCAGGGACACTCAGTC -3'

Sequencing Primer
(F):5'- AAGCAGGTGGCCACATTC -3'
(R):5'- AGTGACTGCCGTGTCCAAC -3'

Posted On

2015-10-21