Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02177:Ccdc183'

283135

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc183

Ensembl Gene

ENSMUSG00000026940

Gene Name

coiled-coil domain containing 183

Synonyms

4921530D09Rik, Cccd183

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL02177

Quality Score

Status

Chromosome

Chromosomal Location

25498647-25507690 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25502095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 260 (E260K)

Ref Sequence

ENSEMBL: ENSMUSP00000028309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028309] [ENSMUST00000058137]

AlphaFold

A2AJB1

Predicted Effect

probably benign
Transcript: ENSMUST00000028309
AA Change: E260K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000028309
Gene: ENSMUSG00000026940
AA Change: E260K

Domain	Start	End	E-Value	Type
coiled coil region	118	147	N/A	INTRINSIC
low complexity region	171	183	N/A	INTRINSIC
coiled coil region	321	406	N/A	INTRINSIC
low complexity region	524	534	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000058137

SMART Domains

Protein: ENSMUSP00000058746
Gene: ENSMUSG00000015087

Domain	Start	End	E-Value	Type
Pfam:Ras	45	108	1.5e-7	PFAM
Pfam:Roc	45	112	2.2e-8	PFAM
low complexity region	232	245	N/A	INTRINSIC
low complexity region	291	325	N/A	INTRINSIC
low complexity region	343	364	N/A	INTRINSIC
low complexity region	378	397	N/A	INTRINSIC
low complexity region	480	492	N/A	INTRINSIC
coiled coil region	653	669	N/A	INTRINSIC
low complexity region	708	720	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127642

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140785

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146012

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155684

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	T	G	19: 53,205,323 (GRCm39)	Y24*	probably null	Het
Catsperb	A	G	12: 101,507,721 (GRCm39)	Y496C	probably damaging	Het
Ccdc81	A	C	7: 89,524,988 (GRCm39)	M531R	possibly damaging	Het
Cyp3a16	T	A	5: 145,386,964 (GRCm39)	N342I	probably benign	Het
Defb43	T	C	14: 63,249,266 (GRCm39)	V3A	probably benign	Het
Dpyd	T	A	3: 118,858,559 (GRCm39)	I591N	possibly damaging	Het
Dpysl5	T	G	5: 30,902,622 (GRCm39)	V18G	probably damaging	Het
Erc2	A	T	14: 27,620,580 (GRCm39)	M69L	probably benign	Het
Fam184b	G	T	5: 45,690,157 (GRCm39)	Y817*	probably null	Het
Fyb1	G	T	15: 6,688,047 (GRCm39)		probably null	Het
Gpr33	G	T	12: 52,070,863 (GRCm39)	Q59K	probably benign	Het
Heatr3	T	G	8: 88,883,351 (GRCm39)	F278V	probably benign	Het
Hectd1	A	T	12: 51,819,103 (GRCm39)	D1292E	probably damaging	Het
Herc1	A	T	9: 66,341,793 (GRCm39)	M1861L	probably benign	Het
Hspg2	T	A	4: 137,242,627 (GRCm39)	L614Q	probably damaging	Het
Itpr3	A	G	17: 27,318,588 (GRCm39)	R915G	possibly damaging	Het
Jhy	T	C	9: 40,809,553 (GRCm39)	D646G	probably damaging	Het
Lrig1	T	A	6: 94,640,977 (GRCm39)	N76I	possibly damaging	Het
Macc1	A	G	12: 119,429,292 (GRCm39)	D814G	probably damaging	Het
Mapk8ip1	T	C	2: 92,217,092 (GRCm39)	D401G	probably damaging	Het
Nedd4	T	A	9: 72,654,439 (GRCm39)	S865T	probably damaging	Het
Or9s27	G	A	1: 92,516,479 (GRCm39)	M142I	possibly damaging	Het
Pi4ka	A	T	16: 17,136,146 (GRCm39)	D937E	probably benign	Het
Prkcd	T	A	14: 30,327,844 (GRCm39)	I81F	probably damaging	Het
Ranbp9	A	T	13: 43,573,193 (GRCm39)	C280S	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Scn1b	T	C	7: 30,816,655 (GRCm39)	*219W	probably null	Het
Slain2	T	C	5: 73,072,008 (GRCm39)	V14A	probably benign	Het
Soat1	A	T	1: 156,268,073 (GRCm39)		probably benign	Het
Tbc1d4	T	A	14: 101,692,375 (GRCm39)	M1030L	possibly damaging	Het
Tenm4	T	C	7: 96,544,869 (GRCm39)	V2295A	probably benign	Het
Tmem135	A	G	7: 88,987,661 (GRCm39)	Y46H	probably damaging	Het
Tnfsf18	A	T	1: 161,331,354 (GRCm39)	D168V	probably damaging	Het
Trdn	T	C	10: 33,015,169 (GRCm39)	V41A	probably damaging	Het
Trpc5	G	T	X: 143,264,234 (GRCm39)	L208I	probably damaging	Het
Vmn1r50	T	C	6: 90,085,139 (GRCm39)	Y295H	probably benign	Het
Vmn2r18	T	G	5: 151,510,274 (GRCm39)	H33P	possibly damaging	Het
Vmn2r84	T	C	10: 130,227,881 (GRCm39)	I118M	probably benign	Het

Other mutations in Ccdc183

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00858:Ccdc183	APN	2	25,499,783 (GRCm39)	missense	probably benign	0.01
R1354:Ccdc183	UTSW	2	25,502,151 (GRCm39)	missense	probably benign	0.33
R1547:Ccdc183	UTSW	2	25,499,362 (GRCm39)	missense	probably benign	0.05
R5084:Ccdc183	UTSW	2	25,498,802 (GRCm39)	missense	probably damaging	0.97
R5579:Ccdc183	UTSW	2	25,505,434 (GRCm39)	missense	possibly damaging	0.92
R6188:Ccdc183	UTSW	2	25,499,764 (GRCm39)	missense	probably benign	0.28
R6224:Ccdc183	UTSW	2	25,500,594 (GRCm39)	missense	possibly damaging	0.55
R6372:Ccdc183	UTSW	2	25,506,176 (GRCm39)	missense	probably benign	0.21
R6994:Ccdc183	UTSW	2	25,507,057 (GRCm39)	missense	probably benign	0.00
R7041:Ccdc183	UTSW	2	25,503,682 (GRCm39)	missense	probably benign	0.00
R7132:Ccdc183	UTSW	2	25,506,542 (GRCm39)	critical splice donor site	probably null
R7177:Ccdc183	UTSW	2	25,506,296 (GRCm39)	missense	probably damaging	1.00
R7432:Ccdc183	UTSW	2	25,499,469 (GRCm39)	missense	probably benign
R7561:Ccdc183	UTSW	2	25,501,529 (GRCm39)	missense	probably benign	0.00
R8283:Ccdc183	UTSW	2	25,502,160 (GRCm39)	missense	probably damaging	0.99
R8781:Ccdc183	UTSW	2	25,502,208 (GRCm39)	critical splice acceptor site	probably benign
R9623:Ccdc183	UTSW	2	25,499,520 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16