Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01536:Zcchc8'

89981

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zcchc8

Ensembl Gene

ENSMUSG00000029427

Gene Name

zinc finger, CCHC domain containing 8

Synonyms

5730565F05Rik

Accession Numbers

Genbank: NM_027494; MGI: 1917900

Is this an essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

IGL01536

Quality Score

Status

Chromosome

Chromosomal Location

123698294-123721100 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 123720719 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031376] [ENSMUST00000196282] [ENSMUST00000200503]

Predicted Effect

probably null
Transcript: ENSMUST00000031376

SMART Domains

Protein: ENSMUSP00000031376
Gene: ENSMUSG00000029427

Domain	Start	End	E-Value	Type
low complexity region	33	44	N/A	INTRINSIC
coiled coil region	48	83	N/A	INTRINSIC
ZnF_C2HC	231	247	4.13e-3	SMART
PSP	286	338	3.04e-27	SMART
low complexity region	410	434	N/A	INTRINSIC
low complexity region	464	500	N/A	INTRINSIC
low complexity region	520	527	N/A	INTRINSIC
low complexity region	613	625	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196001

Predicted Effect

probably benign
Transcript: ENSMUST00000196282

SMART Domains

Protein: ENSMUSP00000142363
Gene: ENSMUSG00000029427

Domain	Start	End	E-Value	Type
low complexity region	33	44	N/A	INTRINSIC
coiled coil region	48	83	N/A	INTRINSIC
ZnF_C2HC	231	247	4.13e-3	SMART
PSP	286	338	3.04e-27	SMART
low complexity region	410	434	N/A	INTRINSIC
low complexity region	464	500	N/A	INTRINSIC
low complexity region	520	527	N/A	INTRINSIC
low complexity region	613	625	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196333

Predicted Effect

probably benign
Transcript: ENSMUST00000198826

Predicted Effect

probably benign
Transcript: ENSMUST00000200503

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(12) : Gene trapped(12)

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp5a1	T	C	18: 77,780,312		probably benign	Het
Ccnc	A	G	4: 21,732,505	I81V	probably benign	Het
Cep112	A	G	11: 108,531,411	D560G	probably null	Het
Dis3	A	G	14: 99,079,423	Y826H	probably damaging	Het
Dtx2	A	G	5: 136,010,086		probably benign	Het
Enpp4	T	C	17: 44,099,603	K361E	possibly damaging	Het
Erap1	A	T	13: 74,662,423	K294*	probably null	Het
Erbb4	T	A	1: 68,290,282	Y636F	probably benign	Het
Fads1	C	A	19: 10,194,030	Q342K	probably benign	Het
Fntb	A	T	12: 76,920,130	T447S	probably benign	Het
Hdac4	A	G	1: 91,930,146		probably benign	Het
Kcnh2	A	G	5: 24,326,524	I463T	probably damaging	Het
Kif13a	G	T	13: 46,752,289	T726K	probably damaging	Het
Lcmt1	T	C	7: 123,422,743	S275P	possibly damaging	Het
Lmnb1	T	C	18: 56,740,796	S425P	probably benign	Het
Lrp1b	T	C	2: 41,110,883	I2224V	probably benign	Het
Lrrc45	A	T	11: 120,715,584	T173S	probably benign	Het
Muc4	T	C	16: 32,763,966	Y2590H	possibly damaging	Het
Myo18a	C	T	11: 77,820,851	P676L	probably damaging	Het
Olfr1023	T	C	2: 85,887,600	S267P	probably damaging	Het
Pcdhb15	T	C	18: 37,474,993	M426T	probably benign	Het
Pik3cd	A	G	4: 149,652,666	V891A	probably damaging	Het
Polr1b	A	G	2: 129,125,555	N956S	probably benign	Het
Ppil3	T	C	1: 58,444,591	M1V	probably null	Het
Rad1	T	A	15: 10,493,200	S238T	possibly damaging	Het
Shc3	A	C	13: 51,516,559	S51A	probably damaging	Het
Slc9c1	T	C	16: 45,589,629		probably null	Het
Smg5	A	G	3: 88,349,245	K273E	possibly damaging	Het
Sntg1	C	T	1: 8,583,200		probably null	Het
Sstr4	T	C	2: 148,395,880	L137P	probably damaging	Het
Taar8b	C	T	10: 24,091,595	V234I	probably benign	Het
Tbc1d9	A	G	8: 83,260,992	Y860C	probably damaging	Het
Tll1	A	T	8: 64,074,289	S399R	probably damaging	Het
Tns1	T	C	1: 73,919,648		probably benign	Het
Trim10	T	A	17: 36,877,288		probably null	Het
Ttn	C	T	2: 76,732,351		probably null	Het
Usp43	T	C	11: 67,855,938	D981G	probably benign	Het
Vmn2r108	A	T	17: 20,463,281	C554S	probably damaging	Het
Vmn2r112	T	A	17: 22,605,155	Y464N	probably damaging	Het
Vmn2r31	T	C	7: 7,384,848	K575E	probably damaging	Het
Vmn2r50	C	T	7: 10,037,683	C697Y	probably damaging	Het

Other mutations in Zcchc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01341:Zcchc8	APN	5	123704569	missense	probably benign	0.43
IGL02083:Zcchc8	APN	5	123700918	missense	probably damaging	1.00
IGL02838:Zcchc8	APN	5	123719483	splice site	probably benign
3-1:Zcchc8	UTSW	5	123709481	missense	probably damaging	1.00
PIT4515001:Zcchc8	UTSW	5	123700932	missense	probably benign	0.23
R0127:Zcchc8	UTSW	5	123707337	missense	probably damaging	1.00
R1134:Zcchc8	UTSW	5	123717027	missense	probably damaging	1.00
R1604:Zcchc8	UTSW	5	123700658	missense	probably benign	0.00
R1744:Zcchc8	UTSW	5	123700373	nonsense	probably null
R2216:Zcchc8	UTSW	5	123707403	missense	probably damaging	1.00
R2303:Zcchc8	UTSW	5	123700597	missense	probably benign	0.00
R2877:Zcchc8	UTSW	5	123700703	missense	probably benign	0.05
R2964:Zcchc8	UTSW	5	123720867	missense	probably benign	0.00
R2966:Zcchc8	UTSW	5	123720867	missense	probably benign	0.00
R6831:Zcchc8	UTSW	5	123700909	missense	probably damaging	1.00
R7908:Zcchc8	UTSW	5	123720720	critical splice donor site	probably benign

Posted On

2013-12-03