Mutagenetix > Incidental Mutation

Incidental Mutation 'R6122:Ccdc82'

485776

Institutional Source

Beutler Lab

Gene Symbol

Ccdc82

Ensembl Gene

ENSMUSG00000079084

Gene Name

coiled-coil domain containing 82

Synonyms

2310043N13Rik

MMRRC Submission

044269-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R6122 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13246573-13292867 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13266880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 361 (I361V)

Ref Sequence

ENSEMBL: ENSMUSP00000150947 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110583] [ENSMUST00000217444]

AlphaFold

Q6PG04

Predicted Effect

probably benign
Transcript: ENSMUST00000110583
AA Change: I361V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000106212
Gene: ENSMUSG00000079084
AA Change: I361V

Domain	Start	End	E-Value	Type
low complexity region	38	70	N/A	INTRINSIC
Pfam:DUF4196	98	211	1.8e-50	PFAM
low complexity region	218	231	N/A	INTRINSIC
Pfam:DUF4211	273	432	1e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217444
AA Change: I361V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.8%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,853,750 (GRCm39)	*301W	probably null	Het
Abat	A	G	16: 8,423,414 (GRCm39)	I236V	probably benign	Het
Abca8a	T	C	11: 109,961,249 (GRCm39)	T558A	probably benign	Het
Ace3	A	C	11: 105,885,764 (GRCm39)	M57L	probably benign	Het
Adgrg1	T	C	8: 95,729,129 (GRCm39)	S18P	probably benign	Het
Ahi1	A	G	10: 20,934,064 (GRCm39)	D60G	probably benign	Het
Ap4e1	T	A	2: 126,870,080 (GRCm39)		probably null	Het
Arnt2	C	A	7: 84,010,773 (GRCm39)	K34N	probably damaging	Het
Ascc3	T	A	10: 50,494,021 (GRCm39)	M152K	probably benign	Het
AW551984	A	T	9: 39,505,051 (GRCm39)	F480L	probably benign	Het
Blvrb	G	A	7: 27,158,773 (GRCm39)	A58T	possibly damaging	Het
Bpifa1	C	T	2: 153,985,892 (GRCm39)	T69I	probably benign	Het
Cacna1g	T	A	11: 94,320,997 (GRCm39)	M1366L	probably benign	Het
Clca4b	T	A	3: 144,631,927 (GRCm39)	I193F	possibly damaging	Het
Crb1	A	T	1: 139,176,686 (GRCm39)	Y371*	probably null	Het
Cul9	T	C	17: 46,832,854 (GRCm39)	D1363G	possibly damaging	Het
Cyp2j8	C	T	4: 96,332,877 (GRCm39)	A490T	probably benign	Het
D430041D05Rik	A	T	2: 104,086,637 (GRCm39)	S780T	probably benign	Het
Fzd5	G	T	1: 64,774,815 (GRCm39)	C315*	probably null	Het
Gabrr1	T	C	4: 33,161,695 (GRCm39)	S340P	probably damaging	Het
Galnt7	T	C	8: 57,979,200 (GRCm39)	D641G	probably damaging	Het
Gm7133	A	G	1: 97,110,948 (GRCm39)		noncoding transcript	Het
Heatr5b	A	G	17: 79,120,602 (GRCm39)	L774P	possibly damaging	Het
Itch	T	A	2: 155,015,985 (GRCm39)	S157T	probably benign	Het
Itgam	A	C	7: 127,684,824 (GRCm39)	D398A	probably damaging	Het
Kalrn	G	T	16: 33,805,561 (GRCm39)	L2659M	possibly damaging	Het
Kcnj14	C	A	7: 45,468,875 (GRCm39)	R210L	possibly damaging	Het
Kmt2d	T	C	15: 98,758,573 (GRCm39)		probably benign	Het
Krt1c	G	C	15: 101,724,349 (GRCm39)	T305S	probably damaging	Het
Mcm3ap	A	G	10: 76,342,441 (GRCm39)	N1645D	probably damaging	Het
Naf1	T	A	8: 67,336,096 (GRCm39)	I341K	probably damaging	Het
Nbea	G	T	3: 55,937,317 (GRCm39)	H765N	probably damaging	Het
Ncapd3	A	G	9: 26,975,278 (GRCm39)	I776V	probably benign	Het
Neo1	A	T	9: 58,824,291 (GRCm39)	D712E	probably benign	Het
Neu1	G	A	17: 35,153,730 (GRCm39)	V385I	probably benign	Het
Or14j3	C	A	17: 37,900,817 (GRCm39)	R142S	probably benign	Het
Or51a6	C	A	7: 102,604,011 (GRCm39)	G273C	probably damaging	Het
Or51a6	A	G	7: 102,604,737 (GRCm39)	Y24H	probably benign	Het
Pgghg	A	C	7: 140,523,308 (GRCm39)	T196P	possibly damaging	Het
Pira2	A	T	7: 3,845,445 (GRCm39)	V313E	probably damaging	Het
Pkd1l2	T	C	8: 117,809,107 (GRCm39)	R28G	probably benign	Het
Pkhd1l1	T	C	15: 44,421,336 (GRCm39)	S3035P	probably damaging	Het
Ppp1r9a	T	A	6: 4,905,509 (GRCm39)	N21K	probably damaging	Het
Prune1	T	C	3: 95,169,554 (GRCm39)	D216G	probably benign	Het
Ptpn23	G	T	9: 110,216,893 (GRCm39)		probably benign	Het
Ranbp2	T	A	10: 58,301,351 (GRCm39)	M668K	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpsa	G	T	9: 119,960,102 (GRCm39)	V222L	probably benign	Het
Septin2	A	G	1: 93,425,098 (GRCm39)	T45A	probably damaging	Het
Slc12a8	A	T	16: 33,445,384 (GRCm39)	D260V	probably damaging	Het
Srrm2	G	T	17: 24,039,330 (GRCm39)	M2087I	possibly damaging	Het
Tg	T	C	15: 66,700,306 (GRCm39)	L88P	probably damaging	Het
Tns1	A	G	1: 73,991,578 (GRCm39)		probably null	Het
Topbp1	A	T	9: 103,224,160 (GRCm39)	D1429V	probably benign	Het
Tprg1	A	G	16: 25,241,151 (GRCm39)		probably null	Het
Trit1	T	C	4: 122,933,261 (GRCm39)	I66T	possibly damaging	Het
Usf3	A	T	16: 44,037,670 (GRCm39)	I717L	probably damaging	Het

Other mutations in Ccdc82

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Nervosa	UTSW	9	13,289,706 (GRCm39)	nonsense	probably null
R1276:Ccdc82	UTSW	9	13,281,903 (GRCm39)	missense	probably benign	0.03
R1580:Ccdc82	UTSW	9	13,252,385 (GRCm39)	missense	probably damaging	1.00
R1662:Ccdc82	UTSW	9	13,262,397 (GRCm39)	missense	probably damaging	1.00
R3619:Ccdc82	UTSW	9	13,251,931 (GRCm39)	missense	probably benign	0.05
R3858:Ccdc82	UTSW	9	13,251,704 (GRCm39)	start gained	probably benign
R3963:Ccdc82	UTSW	9	13,252,011 (GRCm39)	missense	possibly damaging	0.78
R4287:Ccdc82	UTSW	9	13,253,043 (GRCm39)	missense	probably benign	0.13
R4674:Ccdc82	UTSW	9	13,252,260 (GRCm39)	missense	probably benign	0.45
R5591:Ccdc82	UTSW	9	13,272,822 (GRCm39)	critical splice donor site	probably null
R6175:Ccdc82	UTSW	9	13,272,798 (GRCm39)	missense	probably damaging	1.00
R6434:Ccdc82	UTSW	9	13,251,659 (GRCm39)	intron	probably benign
R6457:Ccdc82	UTSW	9	13,272,745 (GRCm39)	missense	possibly damaging	0.73
R6825:Ccdc82	UTSW	9	13,251,601 (GRCm39)	intron	probably benign
R7191:Ccdc82	UTSW	9	13,252,097 (GRCm39)	nonsense	probably null
R8716:Ccdc82	UTSW	9	13,252,922 (GRCm39)	nonsense	probably null
R8850:Ccdc82	UTSW	9	13,289,706 (GRCm39)	nonsense	probably null
R9020:Ccdc82	UTSW	9	13,281,915 (GRCm39)	missense	probably damaging	1.00
R9345:Ccdc82	UTSW	9	13,281,891 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- AGAAACTCTGCCCTGTTCTCTG -3'
(R):5'- AAGCAGAAGGCCTACACTTC -3'

Sequencing Primer
(F):5'- TGCGCTTCCATGAAATGAAGC -3'
(R):5'- CACTTCAGAAAATGATTCCATCTGGG -3'

Posted On

2017-08-16