Mutagenetix > Incidental Mutation

Incidental Mutation 'R3714:Ccdc87'

259825

Institutional Source

Beutler Lab

Gene Symbol

Ccdc87

Ensembl Gene

ENSMUSG00000067872

Gene Name

coiled-coil domain containing 87

Synonyms

MMRRC Submission

040707-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R3714 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4839366-4842528 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4840259 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 260 (S260G)

Ref Sequence

ENSEMBL: ENSMUSP00000086028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037246] [ENSMUST00000088653]

AlphaFold

Q8CDL9

Predicted Effect

probably benign
Transcript: ENSMUST00000037246

SMART Domains

Protein: ENSMUSP00000035486
Gene: ENSMUSG00000034108

Domain	Start	End	E-Value	Type
Pfam:HMA	15	72	2.4e-12	PFAM
Pfam:Sod_Cu	93	230	6.7e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000088653
AA Change: S260G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000086028
Gene: ENSMUSG00000067872
AA Change: S260G

Domain	Start	End	E-Value	Type
low complexity region	25	38	N/A	INTRINSIC
low complexity region	287	296	N/A	INTRINSIC
low complexity region	326	341	N/A	INTRINSIC
low complexity region	373	386	N/A	INTRINSIC
low complexity region	619	632	N/A	INTRINSIC
Pfam:MAP65_ASE1	669	855	2.1e-17	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,947,976	T595A	possibly damaging	Het
Abcd4	C	T	12: 84,611,759	M223I	probably benign	Het
Adck5	G	A	15: 76,593,938	V229I	probably damaging	Het
AF366264	T	G	8: 13,836,736	I452L	probably benign	Het
Ankk1	T	G	9: 49,421,713	D157A	possibly damaging	Het
Atp1a2	A	G	1: 172,278,984	I817T	probably damaging	Het
Cers3	G	T	7: 66,786,075	A261S	probably benign	Het
Cntnap5c	C	T	17: 57,892,067	Q119*	probably null	Het
Cpb2	T	A	14: 75,283,217		probably null	Het
Ddx47	T	A	6: 135,019,062	I329K	probably damaging	Het
Elavl3	G	T	9: 22,018,599	D336E	probably benign	Het
Fam92b	C	T	8: 120,174,837	R43H	probably damaging	Het
Fras1	T	C	5: 96,645,970		probably null	Het
Fuk	G	T	8: 110,887,259	D723E	probably damaging	Het
Garem1	T	A	18: 21,148,890	E136D	probably damaging	Het
Haus6	A	G	4: 86,602,867	I178T	probably benign	Het
Igkv3-2	T	G	6: 70,698,496	V10G	possibly damaging	Het
Jrkl	A	C	9: 13,244,231	I475R	possibly damaging	Het
Lcmt1	C	T	7: 123,404,460	H146Y	probably damaging	Het
Lipk	A	G	19: 34,040,429	N289S	probably damaging	Het
Mb	A	G	15: 77,017,589	V102A	probably benign	Het
Mc4r	T	A	18: 66,859,821	N74Y	probably damaging	Het
Mink1	G	T	11: 70,608,950	R773L	possibly damaging	Het
Mroh2b	A	G	15: 4,943,649	I1045V	probably benign	Het
Myo15	A	T	11: 60,479,231	E939V	possibly damaging	Het
Ndufs7	T	C	10: 80,252,421	I14T	probably benign	Het
Nlrp4b	T	C	7: 10,714,881	V337A	probably benign	Het
Npm2	T	C	14: 70,652,620		probably null	Het
Olfr1240	G	A	2: 89,439,383	L299F	probably damaging	Het
Olfr479	T	C	7: 108,055,435	F151S	probably damaging	Het
Olfr92	A	G	17: 37,111,335	Y216H	probably damaging	Het
Prdm9	T	A	17: 15,557,361	K154*	probably null	Het
Prkch	C	T	12: 73,775,516	P630S	probably damaging	Het
Ptprn	T	C	1: 75,252,767		probably null	Het
Rnf31	T	A	14: 55,603,394	D884E	probably damaging	Het
Slc22a27	A	T	19: 7,926,450	N107K	possibly damaging	Het
Spata5	G	A	3: 37,433,209	V407I	probably benign	Het
Tln1	G	T	4: 43,540,597	A1468D	probably damaging	Het
Tmem185b	T	A	1: 119,527,051	F181I	possibly damaging	Het
Tmem63a	G	A	1: 180,963,114	D446N	possibly damaging	Het
Trappc11	T	C	8: 47,505,316		probably benign	Het
Vmn1r218	A	T	13: 23,136,911	N63Y	probably damaging	Het
Vps37c	A	G	19: 10,706,268	D18G	probably damaging	Het

Other mutations in Ccdc87

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02321:Ccdc87	APN	19	4841031	missense	probably damaging	1.00
IGL02754:Ccdc87	APN	19	4839861	missense	probably damaging	1.00
IGL03124:Ccdc87	APN	19	4841054	missense	probably damaging	0.99
IGL03151:Ccdc87	APN	19	4841557	missense	probably benign	0.01
R1572:Ccdc87	UTSW	19	4840313	missense	probably benign	0.03
R2031:Ccdc87	UTSW	19	4841687	missense	probably damaging	1.00
R3734:Ccdc87	UTSW	19	4841923	missense	probably damaging	1.00
R3854:Ccdc87	UTSW	19	4839518	missense	probably benign	0.36
R4643:Ccdc87	UTSW	19	4841849	missense	probably damaging	1.00
R4820:Ccdc87	UTSW	19	4840551	missense	probably damaging	1.00
R5039:Ccdc87	UTSW	19	4840401	splice site	probably null
R5634:Ccdc87	UTSW	19	4840665	missense	probably benign	0.00
R5659:Ccdc87	UTSW	19	4840850	missense	probably damaging	0.99
R6065:Ccdc87	UTSW	19	4841240	missense	probably benign
R6237:Ccdc87	UTSW	19	4841379	missense	probably benign	0.15
R6337:Ccdc87	UTSW	19	4839801	missense	probably benign	0.00
R6349:Ccdc87	UTSW	19	4841319	missense	probably damaging	1.00
R6429:Ccdc87	UTSW	19	4841235	missense	probably benign	0.06
R6520:Ccdc87	UTSW	19	4841789	missense	probably damaging	0.99
R7131:Ccdc87	UTSW	19	4841757	missense	probably damaging	1.00
R7237:Ccdc87	UTSW	19	4839762	missense	probably benign	0.00
R7349:Ccdc87	UTSW	19	4841840	missense	probably damaging	0.98
R7848:Ccdc87	UTSW	19	4841508	missense	probably damaging	1.00
R8382:Ccdc87	UTSW	19	4839990	missense	possibly damaging	0.88
R8421:Ccdc87	UTSW	19	4841285	missense	possibly damaging	0.79
R8560:Ccdc87	UTSW	19	4841873	missense	probably damaging	1.00
R8747:Ccdc87	UTSW	19	4841618	missense	probably benign	0.01
R9457:Ccdc87	UTSW	19	4841631	missense	probably damaging	1.00
R9679:Ccdc87	UTSW	19	4841271	missense	probably benign	0.05
R9803:Ccdc87	UTSW	19	4841147	missense	probably benign	0.00
Z1088:Ccdc87	UTSW	19	4840722	missense	probably benign	0.02
Z1176:Ccdc87	UTSW	19	4841923	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTTAAAGCACGCCCAGGGAG -3'
(R):5'- CCTCATGAAGACAAGGCATGG -3'

Sequencing Primer
(F):5'- GGCATAGTCAAATTGCGTCC -3'
(R):5'- ATGGACTGGCCCCTTTGGAG -3'

Posted On

2015-01-23