Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02083:Ccdc138'

283445

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc138

Ensembl Gene

ENSMUSG00000038010

Gene Name

coiled-coil domain containing 138

Synonyms

6230424H07Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

IGL02083

Quality Score

Status

Chromosome

Chromosomal Location

58497948-58576244 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 58544914 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000043040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036576]

Predicted Effect

probably benign
Transcript: ENSMUST00000036576

SMART Domains

Protein: ENSMUSP00000043040
Gene: ENSMUSG00000038010

Domain	Start	End	E-Value	Type
coiled coil region	259	339	N/A	INTRINSIC
low complexity region	355	365	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	C	11: 69,889,510	L36V	possibly damaging	Het
Atp13a3	T	C	16: 30,347,706	T540A	possibly damaging	Het
Bend5	A	C	4: 111,459,767	I376L	probably benign	Het
Cdh10	T	A	15: 18,986,889	I402N	possibly damaging	Het
Cfap44	T	C	16: 44,437,162	V1020A	probably damaging	Het
Chd2	A	T	7: 73,481,068	S749T	possibly damaging	Het
Doxl2	G	A	6: 48,976,260	G373D	probably damaging	Het
Enpp3	T	A	10: 24,776,794	D755V	probably damaging	Het
Fmo6	T	A	1: 162,920,464	K344*	probably null	Het
Gabbr1	A	G	17: 37,070,065	T767A	possibly damaging	Het
Gjd3	A	G	11: 98,982,761	S86P	probably damaging	Het
Grin1	A	G	2: 25,298,501	V432A	possibly damaging	Het
Igf2r	A	T	17: 12,693,192	C1849*	probably null	Het
Jcad	G	T	18: 4,680,266		probably benign	Het
Mrgpra4	A	T	7: 47,981,060	C264*	probably null	Het
Napepld	T	C	5: 21,676,067	Y110C	probably damaging	Het
Nat6	G	T	9: 107,583,599	R231L	probably benign	Het
Ncapd3	A	G	9: 27,051,821	E474G	probably damaging	Het
Pkhd1	T	A	1: 20,201,227	D3034V	probably damaging	Het
Plxnc1	T	C	10: 94,922,725	T370A	possibly damaging	Het
Ptger4	C	T	15: 5,243,174	R13H	probably benign	Het
Scg2	T	A	1: 79,436,224	T261S	probably benign	Het
Sfswap	T	C	5: 129,539,791	V433A	probably benign	Het
Sipa1l3	A	G	7: 29,387,261	Y635H	probably damaging	Het
Sp5	C	A	2: 70,476,414	P148T	possibly damaging	Het
Tlr5	A	G	1: 182,973,884	N251S	possibly damaging	Het
Tmem87a	A	T	2: 120,397,380	N95K	probably damaging	Het
Unc45b	C	T	11: 82,922,919	T384M	probably damaging	Het
Unc5c	T	C	3: 141,714,647	L117P	probably damaging	Het
Vcan	T	C	13: 89,725,565	N57D	probably damaging	Het
Zcchc8	G	T	5: 123,700,918	T519K	probably damaging	Het
Zfp729b	G	A	13: 67,595,230	T72I	probably benign	Het

Other mutations in Ccdc138

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Ccdc138	APN	10	58575715	missense	probably damaging	1.00
IGL00957:Ccdc138	APN	10	58529016	splice site	probably benign
IGL01012:Ccdc138	APN	10	58540915	critical splice donor site	probably null
IGL01725:Ccdc138	APN	10	58528923	missense	possibly damaging	0.50
IGL01996:Ccdc138	APN	10	58562030	missense	probably damaging	1.00
IGL02652:Ccdc138	APN	10	58513079	missense	probably benign	0.00
IGL02820:Ccdc138	APN	10	58528899	splice site	probably benign
IGL02934:Ccdc138	APN	10	58573580	splice site	probably benign
IGL03231:Ccdc138	APN	10	58573706	missense	probably damaging	1.00
R0128:Ccdc138	UTSW	10	58528360	missense	probably damaging	1.00
R0271:Ccdc138	UTSW	10	58575823	missense	probably damaging	0.99
R0480:Ccdc138	UTSW	10	58561967	missense	probably damaging	1.00
R0560:Ccdc138	UTSW	10	58575717	missense	probably damaging	1.00
R0645:Ccdc138	UTSW	10	58575720	missense	probably damaging	1.00
R1405:Ccdc138	UTSW	10	58545117	splice site	probably benign
R2032:Ccdc138	UTSW	10	58513162	missense	possibly damaging	0.71
R2097:Ccdc138	UTSW	10	58561937	nonsense	probably null
R2350:Ccdc138	UTSW	10	58561893	splice site	probably benign
R2571:Ccdc138	UTSW	10	58513222	missense	probably benign	0.25
R3787:Ccdc138	UTSW	10	58538270	missense	probably damaging	1.00
R3805:Ccdc138	UTSW	10	58561997	missense	possibly damaging	0.95
R4582:Ccdc138	UTSW	10	58507643	critical splice donor site	probably null
R4630:Ccdc138	UTSW	10	58573655	missense	probably damaging	1.00
R4801:Ccdc138	UTSW	10	58573643	missense	probably damaging	1.00
R4802:Ccdc138	UTSW	10	58573643	missense	probably damaging	1.00
R4883:Ccdc138	UTSW	10	58561996	missense	probably benign	0.03
R4908:Ccdc138	UTSW	10	58544995	missense	possibly damaging	0.84
R5032:Ccdc138	UTSW	10	58573636	missense	probably damaging	1.00
R5155:Ccdc138	UTSW	10	58507572	missense	probably benign	0.00
R5287:Ccdc138	UTSW	10	58575705	missense	possibly damaging	0.89
R5683:Ccdc138	UTSW	10	58540819	missense	probably damaging	1.00
R5963:Ccdc138	UTSW	10	58575757	missense	possibly damaging	0.90
R6530:Ccdc138	UTSW	10	58544968	missense	probably damaging	1.00
R7148:Ccdc138	UTSW	10	58538280	missense	probably damaging	1.00
R7217:Ccdc138	UTSW	10	58509600	missense	probably benign	0.33

Posted On

2015-04-16