Mutagenetix > Incidental Mutation

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

Essential gene?

Possibly non essential (E-score: 0.327) question?

Stock #

IGL01536

Quality Score

Status

Chromosome

Chromosomal Location

123836365-123859107 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 123858782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031376 (fasta)

Gene Model

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

AlphaFold

Q9CYA6

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
Atp5f1a	T	C	18: 77,868,012 (GRCm39)		probably benign	Het
Ccnc	A	G	4: 21,732,505 (GRCm39)	I81V	probably benign	Het
Cep112	A	G	11: 108,422,237 (GRCm39)	D560G	probably null	Het
Dis3	A	G	14: 99,316,859 (GRCm39)	Y826H	probably damaging	Het
Dtx2	A	G	5: 136,038,940 (GRCm39)		probably benign	Het
Enpp4	T	C	17: 44,410,494 (GRCm39)	K361E	possibly damaging	Het
Erap1	A	T	13: 74,810,542 (GRCm39)	K294*	probably null	Het
Erbb4	T	A	1: 68,329,441 (GRCm39)	Y636F	probably benign	Het
Fads1	C	A	19: 10,171,394 (GRCm39)	Q342K	probably benign	Het
Fntb	A	T	12: 76,966,904 (GRCm39)	T447S	probably benign	Het
Hdac4	A	G	1: 91,857,868 (GRCm39)		probably benign	Het
Kcnh2	A	G	5: 24,531,522 (GRCm39)	I463T	probably damaging	Het
Kif13a	G	T	13: 46,905,765 (GRCm39)	T726K	probably damaging	Het
Lcmt1	T	C	7: 123,021,966 (GRCm39)	S275P	possibly damaging	Het
Lmnb1	T	C	18: 56,873,868 (GRCm39)	S425P	probably benign	Het
Lrp1b	T	C	2: 41,000,895 (GRCm39)	I2224V	probably benign	Het
Lrrc45	A	T	11: 120,606,410 (GRCm39)	T173S	probably benign	Het
Muc4	T	C	16: 32,584,340 (GRCm39)	Y2590H	possibly damaging	Het
Myo18a	C	T	11: 77,711,677 (GRCm39)	P676L	probably damaging	Het
Or5m10	T	C	2: 85,717,944 (GRCm39)	S267P	probably damaging	Het
Pcdhb15	T	C	18: 37,608,046 (GRCm39)	M426T	probably benign	Het
Pik3cd	A	G	4: 149,737,123 (GRCm39)	V891A	probably damaging	Het
Polr1b	A	G	2: 128,967,475 (GRCm39)	N956S	probably benign	Het
Ppil3	T	C	1: 58,483,750 (GRCm39)	M1V	probably null	Het
Rad1	T	A	15: 10,493,286 (GRCm39)	S238T	possibly damaging	Het
Shc3	A	C	13: 51,670,595 (GRCm39)	S51A	probably damaging	Het
Slc9c1	T	C	16: 45,409,992 (GRCm39)		probably null	Het
Smg5	A	G	3: 88,256,552 (GRCm39)	K273E	possibly damaging	Het
Sntg1	C	T	1: 8,653,424 (GRCm39)		probably null	Het
Sstr4	T	C	2: 148,237,800 (GRCm39)	L137P	probably damaging	Het
Taar8b	C	T	10: 23,967,493 (GRCm39)	V234I	probably benign	Het
Tbc1d9	A	G	8: 83,987,621 (GRCm39)	Y860C	probably damaging	Het
Tll1	A	T	8: 64,527,323 (GRCm39)	S399R	probably damaging	Het
Tns1	T	C	1: 73,958,807 (GRCm39)		probably benign	Het
Trim10	T	A	17: 37,188,180 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,562,695 (GRCm39)		probably null	Het
Usp43	T	C	11: 67,746,764 (GRCm39)	D981G	probably benign	Het
Vmn2r108	A	T	17: 20,683,543 (GRCm39)	C554S	probably damaging	Het
Vmn2r112	T	A	17: 22,824,136 (GRCm39)	Y464N	probably damaging	Het
Vmn2r31	T	C	7: 7,387,847 (GRCm39)	K575E	probably damaging	Het
Vmn2r50	C	T	7: 9,771,610 (GRCm39)	C697Y	probably damaging	Het

Other mutations in Zcchc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01341:Zcchc8	APN	5	123,842,632 (GRCm39)	missense	probably benign	0.43
IGL02083:Zcchc8	APN	5	123,838,981 (GRCm39)	missense	probably damaging	1.00
IGL02838:Zcchc8	APN	5	123,857,546 (GRCm39)	splice site	probably benign
3-1:Zcchc8	UTSW	5	123,847,544 (GRCm39)	missense	probably damaging	1.00
PIT4515001:Zcchc8	UTSW	5	123,838,995 (GRCm39)	missense	probably benign	0.23
R0127:Zcchc8	UTSW	5	123,845,400 (GRCm39)	missense	probably damaging	1.00
R1134:Zcchc8	UTSW	5	123,855,090 (GRCm39)	missense	probably damaging	1.00
R1604:Zcchc8	UTSW	5	123,838,721 (GRCm39)	missense	probably benign	0.00
R1744:Zcchc8	UTSW	5	123,838,436 (GRCm39)	nonsense	probably null
R2216:Zcchc8	UTSW	5	123,845,466 (GRCm39)	missense	probably damaging	1.00
R2303:Zcchc8	UTSW	5	123,838,660 (GRCm39)	missense	probably benign	0.00
R2877:Zcchc8	UTSW	5	123,838,766 (GRCm39)	missense	probably benign	0.05
R2964:Zcchc8	UTSW	5	123,858,930 (GRCm39)	missense	probably benign	0.00
R2966:Zcchc8	UTSW	5	123,858,930 (GRCm39)	missense	probably benign	0.00
R6831:Zcchc8	UTSW	5	123,838,972 (GRCm39)	missense	probably damaging	1.00
R7908:Zcchc8	UTSW	5	123,858,783 (GRCm39)	critical splice donor site	probably benign
R8738:Zcchc8	UTSW	5	123,841,070 (GRCm39)	missense	probably damaging	0.99
R8791:Zcchc8	UTSW	5	123,845,362 (GRCm39)	missense	probably benign	0.06
R9487:Zcchc8	UTSW	5	123,847,300 (GRCm39)	missense	probably damaging	0.99
R9495:Zcchc8	UTSW	5	123,838,633 (GRCm39)	missense	probably benign	0.00
R9508:Zcchc8	UTSW	5	123,842,584 (GRCm39)	critical splice donor site	probably null

Posted On

2013-12-03