Mutagenetix > Incidental Mutation

Incidental Mutation 'R5659:Ccdc87'

444012

Institutional Source

Beutler Lab

Gene Symbol

Ccdc87

Ensembl Gene

ENSMUSG00000067872

Gene Name

coiled-coil domain containing 87

Synonyms

4931419P11Rik

MMRRC Submission

043303-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R5659 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4889394-4892556 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4890878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 457 (S457P)

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 damaging
Transcript: ENSMUST00000088653
AA Change: S457P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000086028
Gene: ENSMUSG00000067872
AA Change: S457P

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: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	T	C	18: 36,694,103 (GRCm39)	S105P	probably damaging	Het
Ano5	G	A	7: 51,233,562 (GRCm39)	R658H	possibly damaging	Het
Ap3b2	T	A	7: 81,126,500 (GRCm39)	I367F	probably damaging	Het
Apaf1	A	T	10: 90,898,015 (GRCm39)	C247*	probably null	Het
Aqp8	G	A	7: 123,065,889 (GRCm39)	W228*	probably null	Het
Arhgap32	T	A	9: 32,093,256 (GRCm39)	V178D	probably damaging	Het
Atp10b	T	A	11: 43,136,252 (GRCm39)	W1127R	probably damaging	Het
Bcl6	A	T	16: 23,787,159 (GRCm39)	C580*	probably null	Het
Brd1	T	C	15: 88,597,584 (GRCm39)	T568A	probably benign	Het
Brsk1	C	T	7: 4,718,371 (GRCm39)	P665L	possibly damaging	Het
Cblc	A	G	7: 19,526,857 (GRCm39)	L125P	probably damaging	Het
Cxcr5	C	T	9: 44,424,690 (GRCm39)	M322I	probably benign	Het
Cyb5r4	T	A	9: 86,937,881 (GRCm39)	F300Y	probably benign	Het
Cyp3a25	T	C	5: 145,928,356 (GRCm39)	T230A	possibly damaging	Het
Dhx9	A	G	1: 153,347,481 (GRCm39)	V409A	probably damaging	Het
Dnah7b	A	G	1: 46,392,009 (GRCm39)	D3790G	probably damaging	Het
Gin1	A	G	1: 97,703,257 (GRCm39)	T27A	possibly damaging	Het
Gipc1	A	T	8: 84,390,755 (GRCm39)	M287L	probably benign	Het
Kat6a	T	A	8: 23,428,176 (GRCm39)	L1177*	probably null	Het
Klhl20	A	G	1: 160,918,040 (GRCm39)	V82A	probably damaging	Het
Kmt2e	T	C	5: 23,702,805 (GRCm39)	I995T	probably damaging	Het
Lpin1	A	T	12: 16,590,990 (GRCm39)	V814E	probably damaging	Het
Luzp1	T	A	4: 136,269,787 (GRCm39)	V670D	probably damaging	Het
Lyst	C	A	13: 13,809,212 (GRCm39)	A294E	possibly damaging	Het
Olr1	T	A	6: 129,476,992 (GRCm39)	E91V	probably damaging	Het
Or1j1	A	T	2: 36,702,966 (GRCm39)	I46N	probably damaging	Het
Or2k2	A	T	4: 58,785,672 (GRCm39)	F17I	probably damaging	Het
Or8b55	C	T	9: 38,727,072 (GRCm39)	T91I	probably benign	Het
Pam	T	C	1: 97,770,024 (GRCm39)	Y476C	probably damaging	Het
Pcdhac1	T	C	18: 37,225,470 (GRCm39)	L761P	probably damaging	Het
Phf21b	C	T	15: 84,678,101 (GRCm39)	W300*	probably null	Het
Pld2	T	C	11: 70,448,387 (GRCm39)	*945Q	probably null	Het
Ppp1r37	C	T	7: 19,269,448 (GRCm39)	V145M	probably damaging	Het
Rasgrf1	T	A	9: 89,866,342 (GRCm39)	N593K	probably damaging	Het
Rhot1	T	G	11: 80,141,181 (GRCm39)		probably null	Het
Rmnd1	A	T	10: 4,377,382 (GRCm39)	M99K	probably benign	Het
Ros1	G	A	10: 52,019,482 (GRCm39)	T697I	possibly damaging	Het
Scgb1b10	G	T	7: 31,800,303 (GRCm39)	A4S	probably benign	Het
Shc3	T	C	13: 51,670,630 (GRCm39)	Y39C	probably damaging	Het
Slc25a23	A	G	17: 57,352,500 (GRCm39)		probably benign	Het
Slc5a8	C	T	10: 88,755,290 (GRCm39)	L466F	possibly damaging	Het
Sqor	G	A	2: 122,629,523 (GRCm39)	C127Y	probably benign	Het
Sv2a	G	C	3: 96,097,619 (GRCm39)	W467S	possibly damaging	Het
Togaram2	G	T	17: 71,994,667 (GRCm39)	D39Y	probably damaging	Het
Tspan11	T	A	6: 127,915,240 (GRCm39)		probably null	Het
Usp32	A	G	11: 84,968,240 (GRCm39)	V141A	possibly damaging	Het
Zbtb38	T	C	9: 96,569,473 (GRCm39)	H537R	probably damaging	Het
Zfat	T	C	15: 67,990,862 (GRCm39)	Y1008C	probably damaging	Het
Zfp637	G	A	6: 117,820,291 (GRCm39)	G3E	probably damaging	Het
Zfp788	T	A	7: 41,299,540 (GRCm39)	Y673*	probably null	Het
Zhx2	T	C	15: 57,685,704 (GRCm39)	S358P	probably benign	Het

Other mutations in Ccdc87

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02321:Ccdc87	APN	19	4,891,059 (GRCm39)	missense	probably damaging	1.00
IGL02754:Ccdc87	APN	19	4,889,889 (GRCm39)	missense	probably damaging	1.00
IGL03124:Ccdc87	APN	19	4,891,082 (GRCm39)	missense	probably damaging	0.99
IGL03151:Ccdc87	APN	19	4,891,585 (GRCm39)	missense	probably benign	0.01
R1572:Ccdc87	UTSW	19	4,890,341 (GRCm39)	missense	probably benign	0.03
R2031:Ccdc87	UTSW	19	4,891,715 (GRCm39)	missense	probably damaging	1.00
R3714:Ccdc87	UTSW	19	4,890,287 (GRCm39)	missense	probably benign	0.00
R3734:Ccdc87	UTSW	19	4,891,951 (GRCm39)	missense	probably damaging	1.00
R3854:Ccdc87	UTSW	19	4,889,546 (GRCm39)	missense	probably benign	0.36
R4643:Ccdc87	UTSW	19	4,891,877 (GRCm39)	missense	probably damaging	1.00
R4820:Ccdc87	UTSW	19	4,890,579 (GRCm39)	missense	probably damaging	1.00
R5039:Ccdc87	UTSW	19	4,890,429 (GRCm39)	splice site	probably null
R5634:Ccdc87	UTSW	19	4,890,693 (GRCm39)	missense	probably benign	0.00
R6065:Ccdc87	UTSW	19	4,891,268 (GRCm39)	missense	probably benign
R6237:Ccdc87	UTSW	19	4,891,407 (GRCm39)	missense	probably benign	0.15
R6337:Ccdc87	UTSW	19	4,889,829 (GRCm39)	missense	probably benign	0.00
R6349:Ccdc87	UTSW	19	4,891,347 (GRCm39)	missense	probably damaging	1.00
R6429:Ccdc87	UTSW	19	4,891,263 (GRCm39)	missense	probably benign	0.06
R6520:Ccdc87	UTSW	19	4,891,817 (GRCm39)	missense	probably damaging	0.99
R7131:Ccdc87	UTSW	19	4,891,785 (GRCm39)	missense	probably damaging	1.00
R7237:Ccdc87	UTSW	19	4,889,790 (GRCm39)	missense	probably benign	0.00
R7349:Ccdc87	UTSW	19	4,891,868 (GRCm39)	missense	probably damaging	0.98
R7848:Ccdc87	UTSW	19	4,891,536 (GRCm39)	missense	probably damaging	1.00
R8382:Ccdc87	UTSW	19	4,890,018 (GRCm39)	missense	possibly damaging	0.88
R8421:Ccdc87	UTSW	19	4,891,313 (GRCm39)	missense	possibly damaging	0.79
R8560:Ccdc87	UTSW	19	4,891,901 (GRCm39)	missense	probably damaging	1.00
R8747:Ccdc87	UTSW	19	4,891,646 (GRCm39)	missense	probably benign	0.01
R9457:Ccdc87	UTSW	19	4,891,659 (GRCm39)	missense	probably damaging	1.00
R9679:Ccdc87	UTSW	19	4,891,299 (GRCm39)	missense	probably benign	0.05
R9803:Ccdc87	UTSW	19	4,891,175 (GRCm39)	missense	probably benign	0.00
Z1088:Ccdc87	UTSW	19	4,890,750 (GRCm39)	missense	probably benign	0.02
Z1176:Ccdc87	UTSW	19	4,891,951 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAAATGATCAAAAGCCTGCAG -3'
(R):5'- TCTTGGTGTAGAAAAGATGAGGCC -3'

Sequencing Primer
(F):5'- CCTGCAGGAGGAAGAAGCC -3'
(R):5'- GGACCAATCTTTATCTGCTGAAGGC -3'

Posted On

2016-11-09