Mutagenetix > Incidental Mutation

Incidental Mutation 'R7191:Ccdc82'

559600

Institutional Source

Beutler Lab

Gene Symbol

Ccdc82

Ensembl Gene

ENSMUSG00000079084

Gene Name

coiled-coil domain containing 82

Synonyms

2310043N13Rik

MMRRC Submission

045274-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R7191 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13246573-13292867 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 13252097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 130 (Q130*)

Ref Sequence

ENSEMBL: ENSMUSP00000106212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110583] [ENSMUST00000216578] [ENSMUST00000217444]

AlphaFold

Q6PG04

Predicted Effect

probably null
Transcript: ENSMUST00000110583
AA Change: Q130*

SMART Domains

Protein: ENSMUSP00000106212
Gene: ENSMUSG00000079084
AA Change: Q130*

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 null
Transcript: ENSMUST00000216578
AA Change: Q130*

Predicted Effect

probably null
Transcript: ENSMUST00000217444
AA Change: Q130*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	T	A	16: 21,472,314 (GRCm39)	I129F	probably benign	Het
Actmap	G	A	7: 26,900,548 (GRCm39)	A176T	probably damaging	Het
Ank2	T	A	3: 126,740,041 (GRCm39)	T1948S	unknown	Het
Arap1	T	C	7: 101,034,199 (GRCm39)	C214R	probably benign	Het
Cfh	A	C	1: 140,040,305 (GRCm39)	V597G	probably benign	Het
Clp1	A	T	2: 84,554,490 (GRCm39)	C226*	probably null	Het
Cyp39a1	G	A	17: 44,041,910 (GRCm39)	W372*	probably null	Het
Dchs1	G	A	7: 105,414,646 (GRCm39)	P799S	possibly damaging	Het
Dmbt1	A	T	7: 130,646,250 (GRCm39)	N167I	unknown	Het
Dock10	A	G	1: 80,518,048 (GRCm39)	S1310P	possibly damaging	Het
Fam83h	C	T	15: 75,874,886 (GRCm39)	G817D	probably damaging	Het
Fras1	A	G	5: 96,762,771 (GRCm39)	T758A	probably benign	Het
Fryl	T	C	5: 73,230,255 (GRCm39)	H1634R	probably damaging	Het
Gcg	C	G	2: 62,307,183 (GRCm39)	G126A	probably damaging	Het
Get1	A	G	16: 95,953,145 (GRCm39)	I79V	possibly damaging	Het
Gne	T	C	4: 44,040,266 (GRCm39)	K633E	probably benign	Het
Gpr4	T	C	7: 18,957,155 (GRCm39)	V359A	probably benign	Het
Gprc5c	C	T	11: 114,759,443 (GRCm39)	T422M	possibly damaging	Het
Gria2	C	A	3: 80,639,392 (GRCm39)	V207L	probably benign	Het
Hid1	T	C	11: 115,239,295 (GRCm39)	*789W	probably null	Het
Iigp1c	A	T	18: 60,379,329 (GRCm39)	D288V	probably benign	Het
Jakmip3	G	A	7: 138,591,257 (GRCm39)		probably null	Het
Kin	G	A	2: 10,096,604 (GRCm39)	R151Q	probably benign	Het
Krt16	T	C	11: 100,137,484 (GRCm39)	E407G	probably damaging	Het
Krt81	T	C	15: 101,358,110 (GRCm39)	D381G	probably damaging	Het
Lrrc34	C	T	3: 30,679,027 (GRCm39)	G357S	possibly damaging	Het
Lypd11	C	T	7: 24,422,759 (GRCm39)	V105I	possibly damaging	Het
Mipol1	A	G	12: 57,503,852 (GRCm39)	Q340R	probably benign	Het
Mpzl3	T	G	9: 44,966,542 (GRCm39)	M1R	probably null	Het
Nrcam	A	G	12: 44,619,027 (GRCm39)	N852S	probably benign	Het
Nudcd2	C	T	11: 40,627,430 (GRCm39)	Q117*	probably null	Het
Nup35	A	T	2: 80,488,723 (GRCm39)	E320V	probably damaging	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or5p56	G	A	7: 107,589,853 (GRCm39)	V94M	possibly damaging	Het
Pkhd1	T	C	1: 20,628,943 (GRCm39)	H668R	probably benign	Het
Ptprc	T	A	1: 138,028,782 (GRCm39)	D333V	probably benign	Het
Rdh16	A	G	10: 127,649,287 (GRCm39)	K248E	probably benign	Het
Samd4b	C	A	7: 28,113,686 (GRCm39)	G93V	probably benign	Het
Scgn	A	G	13: 24,165,476 (GRCm39)	I78T	probably benign	Het
Slfn14	T	C	11: 83,167,575 (GRCm39)	I647V	probably benign	Het
Smyd5	T	C	6: 85,417,093 (GRCm39)	V157A	probably benign	Het
Syde2	T	C	3: 145,708,113 (GRCm39)	M951T	probably benign	Het
Tas2r105	T	C	6: 131,663,945 (GRCm39)	N161S	probably damaging	Het
Tbck	T	C	3: 132,443,316 (GRCm39)	F581L	probably damaging	Het
Traip	A	G	9: 107,847,216 (GRCm39)	N352D	probably benign	Het
Trim29	A	G	9: 43,222,906 (GRCm39)	Y245C	probably damaging	Het
Trpv4	T	C	5: 114,771,201 (GRCm39)	I443V	probably benign	Het
Usp36	C	T	11: 118,159,660 (GRCm39)	E595K	probably benign	Het
Vmn2r51	T	A	7: 9,834,480 (GRCm39)	Y186F	probably null	Het
Vmn2r97	A	G	17: 19,150,548 (GRCm39)	Y465C	probably damaging	Het
Zfp277	A	T	12: 40,379,561 (GRCm39)	H324Q	probably damaging	Het
Zfp987	A	G	4: 146,058,473 (GRCm39)	D17G	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
R6122:Ccdc82	UTSW	9	13,266,880 (GRCm39)	missense	probably benign	0.01
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
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'- CTTGACAGCGATGAAGAGCATG -3'
(R):5'- AGCAGCTGATGACTTCTCAGG -3'

Sequencing Primer
(F):5'- CAGTGATGAAGAGCTTGATATTAGC -3'
(R):5'- CAGCTGATGACTTCTCAGGAGTTTC -3'

Posted On

2019-06-26