Mutagenetix > Incidental Mutation

Incidental Mutation 'R9101:Ccdc85c'

691704

Institutional Source

Beutler Lab

Gene Symbol

Ccdc85c

Ensembl Gene

ENSMUSG00000084883

Gene Name

coiled-coil domain containing 85C

Synonyms

hhy, Gm9010

MMRRC Submission

068915-MU

Accession Numbers

Essential gene?

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

Stock #

R9101 (G1)

Quality Score

86.0076

Status

Not validated

Chromosome

Chromosomal Location

108169861-108241684 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 108240917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 159 (R159L)

Ref Sequence

ENSEMBL: ENSMUSP00000125757 (fasta)

Gene Model

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

AlphaFold

E9Q6B2

Predicted Effect

unknown
Transcript: ENSMUST00000136175
AA Change: R159L

SMART Domains

Protein: ENSMUSP00000125757
Gene: ENSMUSG00000084883
AA Change: R159L

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: R159L

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (59/60)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	C	12: 113,455,376 (GRCm39)	V731A	probably benign	Het
Adamts7	T	C	9: 90,071,794 (GRCm39)		probably null	Het
Afdn	T	C	17: 14,043,706 (GRCm39)	V388A	probably damaging	Het
Alg3	A	G	16: 20,427,599 (GRCm39)	Y113H	possibly damaging	Het
Aox1	C	T	1: 58,371,796 (GRCm39)	P820L	probably benign	Het
Avil	A	G	10: 126,852,873 (GRCm39)	D731G	probably benign	Het
Blvra	C	T	2: 126,927,890 (GRCm39)	L47F	probably damaging	Het
Bmerb1	T	A	16: 13,867,259 (GRCm39)	I39N	probably damaging	Het
Clcn2	T	C	16: 20,525,979 (GRCm39)	D797G	probably benign	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Dclre1a	A	T	19: 56,532,738 (GRCm39)	F619I	possibly damaging	Het
Dnajb1	C	A	8: 84,335,119 (GRCm39)	D53E	probably benign	Het
Dnmt1	T	C	9: 20,852,839 (GRCm39)	D89G	probably damaging	Het
Gck	A	G	11: 5,856,516 (GRCm39)	Y214H	probably damaging	Het
Gm9507	A	G	10: 77,647,650 (GRCm39)	S10P	unknown	Het
Hacd2	G	A	16: 34,920,156 (GRCm39)	V138I	probably benign	Het
Hhip	A	T	8: 80,770,591 (GRCm39)	V272D	probably damaging	Het
Hoga1	A	C	19: 42,048,347 (GRCm39)	T72P	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Kif21b	G	A	1: 136,078,893 (GRCm39)	G414S	probably damaging	Het
Klk1b5	T	A	7: 43,500,205 (GRCm39)	D264E	probably benign	Het
Lars1	G	A	18: 42,376,942 (GRCm39)	R205C	probably damaging	Het
Ly6a	A	T	15: 74,869,419 (GRCm39)	L12Q	probably null	Het
Mastl	A	G	2: 23,008,449 (GRCm39)	*866Q	probably null	Het
Mpzl3	T	A	9: 44,981,983 (GRCm39)	M217K	possibly damaging	Het
Mroh2b	T	A	15: 4,929,935 (GRCm39)	M7K	probably benign	Het
Mtarc2	T	A	1: 184,554,687 (GRCm39)	R273W	probably null	Het
Nefh	A	G	11: 4,890,925 (GRCm39)	S565P	probably damaging	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Nsd1	C	T	13: 55,461,359 (GRCm39)	L2632F		Het
Or10d1	T	A	9: 39,483,805 (GRCm39)	Y250F	probably benign	Het
Or1a1b	C	T	11: 74,097,322 (GRCm39)	C240Y	probably damaging	Het
Or4a71	A	T	2: 89,358,721 (GRCm39)	I11N	possibly damaging	Het
Or51ac3	A	T	7: 103,213,680 (GRCm39)	F269I	possibly damaging	Het
Or51r1	T	C	7: 102,228,137 (GRCm39)	V145A	probably benign	Het
Or5m10b	A	G	2: 85,694,523 (GRCm39)		probably benign	Het
Or5w18	T	C	2: 87,632,924 (GRCm39)	Y60H	probably damaging	Het
Pcdhga6	T	C	18: 37,841,393 (GRCm39)	V371A	possibly damaging	Het
Pdss2	A	G	10: 43,269,945 (GRCm39)	K263E	possibly damaging	Het
Phf3	C	T	1: 30,843,026 (GRCm39)	A1978T	possibly damaging	Het
Phykpl	C	A	11: 51,483,741 (GRCm39)	T207K	probably benign	Het
Pkd2	T	A	5: 104,628,230 (GRCm39)	C435S	probably damaging	Het
Pramel11	T	A	4: 143,623,646 (GRCm39)	N176I	probably benign	Het
Pramel52-ps	G	A	5: 94,531,899 (GRCm39)	C261Y	probably damaging	Het
Prkra	T	A	2: 76,478,184 (GRCm39)	H6L	probably benign	Het
Prpf39	A	G	12: 65,090,078 (GRCm39)	K131E	probably damaging	Het
Prpf40a	A	G	2: 53,035,255 (GRCm39)	V762A	probably benign	Het
Prr27	C	T	5: 87,991,330 (GRCm39)	T314I	probably damaging	Het
Ptges3	A	G	10: 127,907,998 (GRCm39)	D116G	possibly damaging	Het
Rab11fip5	G	T	6: 85,317,675 (GRCm39)	F1071L	probably benign	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,229,114 (GRCm39)		probably benign	Het
Slc45a3	T	C	1: 131,905,175 (GRCm39)	V66A	possibly damaging	Het
Spata31e5	T	A	1: 28,815,740 (GRCm39)	D764V	probably benign	Het
Ten1	A	G	11: 116,096,562 (GRCm39)	Y72C	probably damaging	Het
Tenm3	A	G	8: 48,745,186 (GRCm39)	L1125S	probably damaging	Het
Thpo	T	A	16: 20,544,557 (GRCm39)	I159F	possibly damaging	Het
Tmppe	T	C	9: 114,234,309 (GRCm39)	S203P	probably damaging	Het
Ttc23l	A	T	15: 10,537,661 (GRCm39)	I203N	probably benign	Het
Vars2	A	G	17: 35,969,980 (GRCm39)	L803P	possibly damaging	Het
Vmn2r110	T	A	17: 20,794,471 (GRCm39)	I733F		Het
Xxylt1	T	C	16: 30,899,745 (GRCm39)	N137D	possibly damaging	Het
Zc3h13	G	A	14: 75,561,042 (GRCm39)	R544Q	unknown	Het
Zfhx4	C	T	3: 5,477,198 (GRCm39)	T3271I	probably benign	Het
Zfp943	T	A	17: 22,212,392 (GRCm39)	C493S	possibly damaging	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
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'- TGACAGGTCATCCAGAGACC -3'
(R):5'- AGCTCTGCTGTTTCCTGGAC -3'

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

Posted On

2021-12-30