Mutagenetix > Incidental Mutation

Incidental Mutation 'R7237:Ccdc87'

562934

Institutional Source

Beutler Lab

Gene Symbol

Ccdc87

Ensembl Gene

ENSMUSG00000067872

Gene Name

coiled-coil domain containing 87

Synonyms

4931419P11Rik

MMRRC Submission

045344-MU

Accession Numbers

Essential gene?

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

Stock #

R7237 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4889394-4892556 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4889790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 94 (N94S)

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: N94S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000086028
Gene: ENSMUSG00000067872
AA Change: N94S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (83/85)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap21	A	T	2: 20,854,783 (GRCm39)	C1536*	probably null	Het
Armc9	C	A	1: 86,092,571 (GRCm39)	Q169K	possibly damaging	Het
Aspm	T	A	1: 139,405,667 (GRCm39)	M1518K	possibly damaging	Het
AU018091	A	G	7: 3,209,006 (GRCm39)	I360T	probably benign	Het
BB014433	C	A	8: 15,091,765 (GRCm39)	V363L	probably benign	Het
Bcam	T	C	7: 19,503,232 (GRCm39)		probably null	Het
Cacna1g	T	C	11: 94,328,705 (GRCm39)	S1071G	probably benign	Het
Card9	A	T	2: 26,246,787 (GRCm39)	S354T	probably benign	Het
Cdc27	A	G	11: 104,408,245 (GRCm39)	V555A	probably benign	Het
Coro1a	T	A	7: 126,299,478 (GRCm39)	D411V	probably benign	Het
Cybrd1	GGTCCTGCAC	G	2: 70,948,553 (GRCm39)		probably benign	Het
Cyth1	A	T	11: 118,076,321 (GRCm39)	I95N	probably damaging	Het
Dnah7b	A	T	1: 46,179,126 (GRCm39)	E933V	probably damaging	Het
Dync2h1	A	T	9: 6,993,966 (GRCm39)	I3968N	probably benign	Het
Fam184a	T	C	10: 53,510,489 (GRCm39)		probably benign	Het
Fat3	G	A	9: 16,288,510 (GRCm39)	L338F	probably damaging	Het
Fcgr3	A	G	1: 170,886,870 (GRCm39)	L18P	probably damaging	Het
Gbp5	T	C	3: 142,213,461 (GRCm39)	V459A	probably benign	Het
Gja4	A	T	4: 127,205,956 (GRCm39)	M269K	probably benign	Het
Gm4787	A	G	12: 81,424,442 (GRCm39)	V572A	probably damaging	Het
Grin2d	G	T	7: 45,515,600 (GRCm39)	S131*	probably null	Het
Gys1	A	G	7: 45,104,586 (GRCm39)	D671G	probably benign	Het
Haspin	T	C	11: 73,027,712 (GRCm39)	N459S	probably benign	Het
Hdac10	G	T	15: 89,009,580 (GRCm39)	Q451K	probably benign	Het
Hdac9	T	C	12: 34,424,139 (GRCm39)		probably null	Het
Hmcn1	A	G	1: 150,598,394 (GRCm39)	V1636A	probably damaging	Het
Hpca	A	G	4: 129,012,407 (GRCm39)	L43P	probably damaging	Het
Hycc2	G	A	1: 58,569,107 (GRCm39)	Q491*	probably null	Het
Insm1	C	A	2: 146,064,448 (GRCm39)	A88E	possibly damaging	Het
Itga9	A	G	9: 118,465,670 (GRCm39)	K175E	probably benign	Het
Kif13a	A	G	13: 46,962,632 (GRCm39)		probably null	Het
Kif20b	T	A	19: 34,928,005 (GRCm39)	L1089H	probably damaging	Het
Lamp5	A	T	2: 135,901,755 (GRCm39)	H152L	probably benign	Het
Lrp4	T	C	2: 91,303,528 (GRCm39)	F76L	probably benign	Het
Magi3	T	C	3: 103,935,227 (GRCm39)	D902G	probably damaging	Het
Map10	C	T	8: 126,397,963 (GRCm39)	P452L	probably benign	Het
Mapk6	A	G	9: 75,304,895 (GRCm39)	L174P	probably damaging	Het
Meak7	C	T	8: 120,489,054 (GRCm39)	G410S	probably damaging	Het
Ndufa4	C	T	6: 11,906,018 (GRCm39)		probably null	Het
Nedd4	A	T	9: 72,632,346 (GRCm39)	E393D	probably benign	Het
Nlrp4b	G	A	7: 10,449,143 (GRCm39)	V449I	probably benign	Het
Nufip2	T	A	11: 77,583,596 (GRCm39)	N503K	probably benign	Het
Or10ac1	T	C	6: 42,515,581 (GRCm39)	D125G	probably damaging	Het
Or6y1	C	T	1: 174,276,905 (GRCm39)	R239C	probably benign	Het
P4ha1	A	G	10: 59,184,065 (GRCm39)	T176A	probably benign	Het
Palm3	A	G	8: 84,756,117 (GRCm39)	K543R	probably benign	Het
Parvg	G	A	15: 84,225,557 (GRCm39)	A302T	probably benign	Het
Pcdh15	A	G	10: 74,420,023 (GRCm39)	D1227G	possibly damaging	Het
Pdzd8	C	T	19: 59,333,571 (GRCm39)	G150D	probably damaging	Het
Pitpnm2	A	G	5: 124,263,360 (GRCm39)		probably null	Het
Pld5	T	C	1: 176,102,301 (GRCm39)	Q47R	possibly damaging	Het
Ppp2r5d	T	C	17: 46,997,206 (GRCm39)	S329G	possibly damaging	Het
Prss56	T	C	1: 87,112,637 (GRCm39)	V144A	probably damaging	Het
Psg28	A	T	7: 18,161,769 (GRCm39)	Y245N	possibly damaging	Het
Ptpn3	C	T	4: 57,239,625 (GRCm39)	V302I	probably damaging	Het
Ptprn2	A	G	12: 117,125,347 (GRCm39)	H627R	probably benign	Het
Rasgrp2	A	T	19: 6,454,838 (GRCm39)	H226L	possibly damaging	Het
Rbm20	C	T	19: 53,839,930 (GRCm39)	T973M	probably benign	Het
Rigi	T	A	4: 40,205,938 (GRCm39)	I885F	probably benign	Het
Riok2	T	A	17: 17,598,045 (GRCm39)	L44Q	probably damaging	Het
Rusc1	G	T	3: 88,998,805 (GRCm39)	Q326K	possibly damaging	Het
Rxylt1	A	T	10: 121,917,523 (GRCm39)	L330*	probably null	Het
Sart3	A	T	5: 113,892,307 (GRCm39)	H397Q	possibly damaging	Het
Sec31b	T	A	19: 44,506,147 (GRCm39)	T920S	probably damaging	Het
Serpinb13	A	G	1: 106,926,679 (GRCm39)	E225G	probably damaging	Het
Slc25a47	T	C	12: 108,821,386 (GRCm39)	L165P	probably damaging	Het
Slc2a10	G	A	2: 165,357,197 (GRCm39)	V286I	probably benign	Het
Slc39a13	G	T	2: 90,895,979 (GRCm39)	T174N	probably benign	Het
Slc7a13	T	A	4: 19,839,364 (GRCm39)	N322K	probably benign	Het
Stk38	T	C	17: 29,193,620 (GRCm39)	T326A	possibly damaging	Het
Sult1a1	T	C	7: 126,272,622 (GRCm39)	M244V	probably benign	Het
Tas2r144	C	T	6: 42,192,800 (GRCm39)	T180I	probably damaging	Het
Tbc1d12	T	A	19: 38,887,346 (GRCm39)	M366K	probably benign	Het
Terb1	T	C	8: 105,221,959 (GRCm39)	I147V	possibly damaging	Het
Tnik	T	C	3: 28,692,568 (GRCm39)	Y820H	probably damaging	Het
Tnxb	C	A	17: 34,901,170 (GRCm39)	L995I	possibly damaging	Het
Trim34b	A	G	7: 103,978,794 (GRCm39)	T14A	possibly damaging	Het
Urb1	T	C	16: 90,588,054 (GRCm39)	E418G	probably damaging	Het
Vmn1r12	T	A	6: 57,136,550 (GRCm39)	C216S	possibly damaging	Het
Vmn2r90	T	A	17: 17,924,249 (GRCm39)	V16E	possibly damaging	Het
Vps11	A	T	9: 44,265,803 (GRCm39)	V492D	probably damaging	Het
Wdr62	A	C	7: 29,969,869 (GRCm39)		probably null	Het
Zc3h14	T	A	12: 98,746,408 (GRCm39)	M539K	probably benign	Het
Zfp871	A	T	17: 32,994,289 (GRCm39)	H295Q	probably damaging	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
R5659:Ccdc87	UTSW	19	4,890,878 (GRCm39)	missense	probably damaging	0.99
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
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'- TTTACCACCGGTTGCTGAGTC -3'
(R):5'- GGCTGATTCAGTGAAGACCC -3'

Sequencing Primer
(F):5'- TCTTCCCCAGCAAGGCGAAG -3'
(R):5'- TCAGTGAAGACCCTTCTAGAGGTC -3'

Posted On

2019-06-26