Mutagenetix > Incidental Mutation

Incidental Mutation 'BB006:Ccdc86'

642385

Institutional Source

Beutler Lab

Gene Symbol

Ccdc86

Ensembl Gene

ENSMUSG00000024732

Gene Name

coiled-coil domain containing 86

Synonyms

6720480F16Rik, 4933411H20Rik, D19Ertd678e, cyclon

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

BB006

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10918845-10926630 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10926183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 139 (S139P)

Ref Sequence

ENSEMBL: ENSMUSP00000025639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025639]

AlphaFold

Q9JJ89

Predicted Effect

unknown
Transcript: ENSMUST00000025639
AA Change: S139P

SMART Domains

Protein: ENSMUSP00000025639
Gene: ENSMUSG00000024732
AA Change: S139P

Domain	Start	End	E-Value	Type
low complexity region	53	64	N/A	INTRINSIC
low complexity region	67	84	N/A	INTRINSIC
low complexity region	87	104	N/A	INTRINSIC
low complexity region	107	124	N/A	INTRINSIC
low complexity region	127	144	N/A	INTRINSIC
low complexity region	187	201	N/A	INTRINSIC
coiled coil region	338	389	N/A	INTRINSIC
low complexity region	392	400	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice are embryonic lethal. CD4 T cells in heterozygote mice are resistant to activation induced cell death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	T	A	17: 37,289,412 (GRCm39)	I105F	possibly damaging	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Adra1d	G	T	2: 131,403,600 (GRCm39)	C163*	probably null	Het
Ak9	A	G	10: 41,259,944 (GRCm39)	D874G		Het
Akap8	A	T	17: 32,528,419 (GRCm39)	S498T	probably damaging	Het
Alyref2	C	G	1: 171,331,407 (GRCm39)	F61L	probably benign	Het
Ank1	A	T	8: 23,606,123 (GRCm39)	I1172F	probably damaging	Het
Ankrd50	A	T	3: 38,511,258 (GRCm39)	F370I	probably damaging	Het
Apip	A	C	2: 102,913,366 (GRCm39)	T41P	probably benign	Het
Atg4d	G	A	9: 21,178,260 (GRCm39)	R126Q	probably null	Het
Ceacam16	A	G	7: 19,587,556 (GRCm39)	L404P	probably damaging	Het
Dennd3	G	T	15: 73,436,423 (GRCm39)	V1010L	probably damaging	Het
Disp1	A	G	1: 182,917,103 (GRCm39)	S108P	probably benign	Het
Ecpas	A	G	4: 58,869,554 (GRCm39)	C238R	probably damaging	Het
Ephb2	A	G	4: 136,388,195 (GRCm39)	V635A	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gars1	A	G	6: 55,040,102 (GRCm39)	H343R	probably damaging	Het
Gli2	A	T	1: 118,769,772 (GRCm39)	N593K	possibly damaging	Het
Il18rap	T	A	1: 40,570,740 (GRCm39)	N227K	probably damaging	Het
Il4ra	T	C	7: 125,174,348 (GRCm39)	S297P	probably benign	Het
Itprid1	G	A	6: 55,874,946 (GRCm39)	V299M	probably damaging	Het
Jak1	A	T	4: 101,011,842 (GRCm39)	F1087I	probably damaging	Het
Klf16	A	G	10: 80,412,698 (GRCm39)	S113P	probably benign	Het
Klhl30	A	T	1: 91,283,238 (GRCm39)	E280V	possibly damaging	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Lama4	A	G	10: 38,954,843 (GRCm39)	H1132R	probably damaging	Het
Lmtk3	A	G	7: 45,444,572 (GRCm39)	D1085G	unknown	Het
Lrrc9	C	A	12: 72,533,071 (GRCm39)	T980K	possibly damaging	Het
Nceh1	A	G	3: 27,333,396 (GRCm39)	D164G	probably benign	Het
Nlrp2	A	G	7: 5,330,498 (GRCm39)	S633P	probably damaging	Het
Nxn	A	G	11: 76,164,863 (GRCm39)	V216A	possibly damaging	Het
Odf4	A	T	11: 68,813,759 (GRCm39)	V143D	possibly damaging	Het
Or4d6	G	A	19: 12,086,118 (GRCm39)	T38I	unknown	Het
Pex12	A	G	11: 83,188,809 (GRCm39)	I62T	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plekhg1	G	A	10: 3,869,170 (GRCm39)	D237N	probably damaging	Het
Rxrb	T	A	17: 34,255,645 (GRCm39)	D377E	probably benign	Het
Ryr2	T	A	13: 11,609,680 (GRCm39)	D4382V	probably damaging	Het
Ryr2	T	A	13: 11,705,181 (GRCm39)	K2862*	probably null	Het
Ryr3	A	G	2: 112,664,533 (GRCm39)	L1606P	probably benign	Het
Samd3	A	G	10: 26,127,813 (GRCm39)	K270R	probably damaging	Het
Slc2a5	C	A	4: 150,223,942 (GRCm39)	F211L	probably benign	Het
Spata31	T	A	13: 65,069,532 (GRCm39)	V560D	probably benign	Het
Tbk1	A	G	10: 121,393,138 (GRCm39)	C471R	probably benign	Het
Tbx20	A	T	9: 24,637,059 (GRCm39)	S343T	possibly damaging	Het
Tesk2	A	G	4: 116,659,452 (GRCm39)	E304G	probably benign	Het
Tle1	A	G	4: 72,118,239 (GRCm39)	F2L	possibly damaging	Het
Tle4	G	T	19: 14,495,244 (GRCm39)	P162T	probably benign	Het
Ttn	G	A	2: 76,673,816 (GRCm39)	P11172S	unknown	Het
Tulp1	T	C	17: 28,572,746 (GRCm39)	N470S	possibly damaging	Het
Unc13b	A	G	4: 43,174,399 (GRCm39)	I1742M	unknown	Het
Vmn2r107	T	G	17: 20,565,706 (GRCm39)	I7S	probably null	Het
Vmn2r91	T	G	17: 18,327,906 (GRCm39)	I500R	probably damaging	Het
Xpnpep3	A	G	15: 81,311,626 (GRCm39)	I111V	probably damaging	Het
Zp3r	T	A	1: 130,519,217 (GRCm39)	E308V	probably benign	Het

Other mutations in Ccdc86

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02317:Ccdc86	APN	19	10,920,556 (GRCm39)	missense	possibly damaging	0.61
BB016:Ccdc86	UTSW	19	10,926,183 (GRCm39)	missense	unknown
R4453:Ccdc86	UTSW	19	10,925,883 (GRCm39)	missense	probably damaging	1.00
R5541:Ccdc86	UTSW	19	10,925,918 (GRCm39)	missense	probably damaging	1.00
R6180:Ccdc86	UTSW	19	10,925,945 (GRCm39)	missense	possibly damaging	0.63
R6471:Ccdc86	UTSW	19	10,926,243 (GRCm39)	missense	unknown
R7647:Ccdc86	UTSW	19	10,926,363 (GRCm39)	missense	unknown
R7929:Ccdc86	UTSW	19	10,926,183 (GRCm39)	missense	unknown
R8981:Ccdc86	UTSW	19	10,926,162 (GRCm39)	small deletion	probably benign
R9246:Ccdc86	UTSW	19	10,926,162 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- AATTTGGATGGCTGCTCTCG -3'
(R):5'- CTACGAGAGTTCCACCACTGAG -3'

Sequencing Primer
(F):5'- CTCTCGTTGCGGGGATTCC -3'
(R):5'- GAGAGTTCCACCACTGAGCCTTC -3'

Posted On

2020-08-01