Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01092:Ccdc83'

51502

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc83

Ensembl Gene

ENSMUSG00000030617

Gene Name

coiled-coil domain containing 83

Synonyms

4930549K11Rik, 4930554C01Rik, 4932423M01Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01092

Quality Score

Status

Chromosome

Chromosomal Location

90223873-90265777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90247105 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 85 (D85E)

Ref Sequence

ENSEMBL: ENSMUSP00000047758 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040413] [ENSMUST00000107220] [ENSMUST00000107221]

AlphaFold

Q9D4V3

Predicted Effect

probably benign
Transcript: ENSMUST00000040413
AA Change: D85E

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000047758
Gene: ENSMUSG00000030617
AA Change: D85E

Domain	Start	End	E-Value	Type
coiled coil region	37	75	N/A	INTRINSIC
low complexity region	93	106	N/A	INTRINSIC
coiled coil region	107	182	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107220
AA Change: D85E

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

SMART Domains

Protein: ENSMUSP00000102838
Gene: ENSMUSG00000030617
AA Change: D85E

Domain	Start	End	E-Value	Type
coiled coil region	37	75	N/A	INTRINSIC
low complexity region	93	106	N/A	INTRINSIC
coiled coil region	107	182	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107221
AA Change: D85E

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

SMART Domains

Protein: ENSMUSP00000102839
Gene: ENSMUSG00000030617
AA Change: D85E

Domain	Start	End	E-Value	Type
coiled coil region	37	75	N/A	INTRINSIC
low complexity region	93	106	N/A	INTRINSIC
coiled coil region	107	182	N/A	INTRINSIC
Blast:BROMO	202	232	1e-5	BLAST
low complexity region	241	249	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap33	T	C	7: 30,529,946	R335G	probably damaging	Het
Atad2b	C	T	12: 5,017,987	S995L	probably damaging	Het
Atrn	A	T	2: 130,947,636	R340*	probably null	Het
Chd2	A	T	7: 73,441,686	H1602Q	possibly damaging	Het
Cog2	A	G	8: 124,545,280	D511G	probably damaging	Het
Col4a4	G	T	1: 82,466,545	P1334T	unknown	Het
Creb3l4	T	C	3: 90,237,738	E369G	probably damaging	Het
Crnkl1	T	C	2: 145,919,948	K563R	probably benign	Het
Dbi	T	C	1: 120,113,477	K131E	probably benign	Het
Edn1	A	G	13: 42,303,671	D60G	probably damaging	Het
Erbin	T	C	13: 103,834,012	N1032S	probably damaging	Het
Ero1l	T	C	14: 45,303,586	D107G	probably benign	Het
Glmn	A	T	5: 107,578,512		probably null	Het
Grxcr1	T	C	5: 68,110,562		probably benign	Het
Itih3	T	A	14: 30,909,781	K593I	probably damaging	Het
Kmt2b	T	C	7: 30,580,507	Y1356C	probably damaging	Het
Lrp1b	C	T	2: 40,750,947	C3495Y	probably damaging	Het
Map3k13	A	T	16: 21,928,016	T950S	probably damaging	Het
Me1	A	T	9: 86,598,748	V348D	probably damaging	Het
Morc2a	T	C	11: 3,684,042	V718A	probably benign	Het
Myh7	T	C	14: 54,971,632	E1883G	possibly damaging	Het
Olfr1338	T	A	4: 118,753,762	I259F	possibly damaging	Het
Olfr913	T	G	9: 38,594,905	I228R	probably damaging	Het
Pdcd6ip	A	G	9: 113,680,181		probably benign	Het
Plcb3	T	A	19: 6,955,322	E1025V	probably benign	Het
Ppp1r26	C	T	2: 28,453,860		probably benign	Het
Prkd1	T	C	12: 50,383,515		probably benign	Het
Rwdd4a	C	T	8: 47,544,112	T122M	possibly damaging	Het
Sdhb	T	G	4: 140,977,480	C251G	probably damaging	Het
Siglec1	A	T	2: 131,079,217	I678N	probably damaging	Het
Snrnp70	T	C	7: 45,377,377	D215G	probably damaging	Het
Ston1	A	G	17: 88,644,443	E674G	probably benign	Het
Tbl3	A	T	17: 24,705,252	I177N	probably damaging	Het
Tbl3	T	C	17: 24,701,905		probably benign	Het
Tnrc6c	T	C	11: 117,721,985	V483A	probably damaging	Het

Other mutations in Ccdc83

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Ccdc83	APN	7	90244044	missense	probably damaging	1.00
IGL01394:Ccdc83	APN	7	90224001	missense	probably damaging	1.00
IGL02585:Ccdc83	APN	7	90236912	missense	probably damaging	1.00
IGL02631:Ccdc83	APN	7	90244069	missense	possibly damaging	0.76
G1patch:Ccdc83	UTSW	7	90247053	missense	probably damaging	1.00
PIT4354001:Ccdc83	UTSW	7	90223974	missense	probably benign	0.21
R0189:Ccdc83	UTSW	7	90226683	missense	possibly damaging	0.94
R0538:Ccdc83	UTSW	7	90228383	missense	probably damaging	0.99
R1441:Ccdc83	UTSW	7	90244143	missense	probably damaging	1.00
R1478:Ccdc83	UTSW	7	90259469	missense	probably damaging	0.99
R1781:Ccdc83	UTSW	7	90250541	missense	probably damaging	1.00
R1929:Ccdc83	UTSW	7	90224077	missense	probably damaging	1.00
R1969:Ccdc83	UTSW	7	90244154	missense	probably damaging	1.00
R1970:Ccdc83	UTSW	7	90244154	missense	probably damaging	1.00
R1971:Ccdc83	UTSW	7	90244154	missense	probably damaging	1.00
R2008:Ccdc83	UTSW	7	90244141	missense	probably damaging	1.00
R2220:Ccdc83	UTSW	7	90259514	missense	probably damaging	0.96
R2271:Ccdc83	UTSW	7	90224077	missense	probably damaging	1.00
R2426:Ccdc83	UTSW	7	90228431	missense	probably damaging	1.00
R2985:Ccdc83	UTSW	7	90236367	intron	probably benign
R3712:Ccdc83	UTSW	7	90236355	intron	probably benign
R4241:Ccdc83	UTSW	7	90247138	missense	probably damaging	1.00
R4260:Ccdc83	UTSW	7	90228391	missense	possibly damaging	0.86
R4374:Ccdc83	UTSW	7	90226778	nonsense	probably null
R5071:Ccdc83	UTSW	7	90250529	missense	probably damaging	0.99
R5072:Ccdc83	UTSW	7	90250529	missense	probably damaging	0.99
R5074:Ccdc83	UTSW	7	90250529	missense	probably damaging	0.99
R5749:Ccdc83	UTSW	7	90223948	missense	probably damaging	1.00
R5929:Ccdc83	UTSW	7	90236316	intron	probably benign
R6283:Ccdc83	UTSW	7	90236407	nonsense	probably null
R6574:Ccdc83	UTSW	7	90226677	missense	possibly damaging	0.69
R6725:Ccdc83	UTSW	7	90247053	missense	probably damaging	1.00
R7320:Ccdc83	UTSW	7	90224034	missense	probably damaging	1.00
R7485:Ccdc83	UTSW	7	90223930	missense	probably benign	0.17
R7511:Ccdc83	UTSW	7	90236922	missense	possibly damaging	0.69
R7750:Ccdc83	UTSW	7	90223982	nonsense	probably null
R7773:Ccdc83	UTSW	7	90229912	missense	probably damaging	1.00
R7915:Ccdc83	UTSW	7	90244082	nonsense	probably null
R8184:Ccdc83	UTSW	7	90224078	nonsense	probably null
R8416:Ccdc83	UTSW	7	90236305	missense	unknown
R9182:Ccdc83	UTSW	7	90236894	missense	probably damaging	1.00
X0067:Ccdc83	UTSW	7	90247155	missense	possibly damaging	0.94
Z1088:Ccdc83	UTSW	7	90244046	missense	probably damaging	1.00

Posted On

2013-06-21