Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01696:Ccdc190'

104270

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc190

Ensembl Gene

ENSMUSG00000070532

Gene Name

coiled-coil domain containing 190

Synonyms

1700084C01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL01696

Quality Score

Status

Chromosome

Chromosomal Location

169928648-169934653 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 169933824 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 165 (K165T)

Ref Sequence

ENSEMBL: ENSMUSP00000135819 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094348] [ENSMUST00000175731]

AlphaFold

Q3URK1

Predicted Effect

probably damaging
Transcript: ENSMUST00000094348
AA Change: K164T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091908
Gene: ENSMUSG00000070532
AA Change: K164T

Domain	Start	End	E-Value	Type
coiled coil region	40	69	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159701

Predicted Effect

probably damaging
Transcript: ENSMUST00000175731
AA Change: K165T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135819
Gene: ENSMUSG00000070532
AA Change: K165T

Domain	Start	End	E-Value	Type
Pfam:DUF4697	8	275	1.4e-130	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	A	G	5: 121,500,793	S730P	possibly damaging	Het
Ano3	T	G	2: 110,667,737	D753A	probably damaging	Het
Apoc4	C	T	7: 19,678,184	C113Y	probably damaging	Het
Arhgdia	A	G	11: 120,580,376		probably benign	Het
Ccdc129	A	G	6: 55,897,695	H210R	probably benign	Het
Ccdc171	A	G	4: 83,655,578	T459A	possibly damaging	Het
Dopey2	T	C	16: 93,770,240	V1185A	probably benign	Het
Ednrb	C	T	14: 103,823,189	V223I	probably benign	Het
Ermp1	T	C	19: 29,646,138	I151V	possibly damaging	Het
Gm15737	T	A	6: 92,879,821		probably benign	Het
Herc3	A	G	6: 58,860,386	H348R	possibly damaging	Het
Immp2l	G	T	12: 41,628,807	A95S	probably damaging	Het
Invs	A	G	4: 48,425,997	Y928C	probably damaging	Het
Olfr365	A	G	2: 37,201,511	E90G	probably benign	Het
Olfr829	A	T	9: 18,857,056	I135L	probably benign	Het
Olfr893	A	C	9: 38,209,049		probably benign	Het
Pkd1l2	G	T	8: 117,056,387	S731R	probably benign	Het
Pkhd1l1	T	C	15: 44,529,351	M1694T	possibly damaging	Het
Pld2	C	A	11: 70,542,780	R212S	probably damaging	Het
Plekhg6	A	G	6: 125,378,830	F4L	probably benign	Het
Rps6ka6	T	C	X: 111,407,517	Q634R	probably benign	Het
Slc1a3	T	C	15: 8,642,338	E378G	probably benign	Het
Tmem184b	T	C	15: 79,378,529	T43A	possibly damaging	Het
Ttn	A	G	2: 76,746,788	V24587A	probably damaging	Het
Uba7	T	A	9: 107,977,348	L262Q	probably damaging	Het
Zfp954	G	T	7: 7,115,398	H382Q	probably damaging	Het

Other mutations in Ccdc190

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00976:Ccdc190	APN	1	169933740	missense	probably benign	0.12
IGL02108:Ccdc190	APN	1	169933986	missense	probably damaging	0.99
IGL03239:Ccdc190	APN	1	169933980	missense	probably benign	0.00
IGL03338:Ccdc190	APN	1	169929975	start codon destroyed	probably null	0.53
R1341:Ccdc190	UTSW	1	169930017	missense	probably damaging	0.99
R4828:Ccdc190	UTSW	1	169933896	missense	probably damaging	0.99
R4892:Ccdc190	UTSW	1	169930109	missense	possibly damaging	0.95
R5023:Ccdc190	UTSW	1	169933087	missense	probably damaging	0.97
R5158:Ccdc190	UTSW	1	169933009	missense	probably benign
R6505:Ccdc190	UTSW	1	169933023	nonsense	probably null
R9461:Ccdc190	UTSW	1	169933920	missense	probably benign	0.00

Posted On

2014-01-21