Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02083:Zcchc8'

283436

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 #

IGL02083

Quality Score

Status

Chromosome

Chromosomal Location

123836365-123859107 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 123838981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 519 (T519K)

Ref Sequence

ENSEMBL: ENSMUSP00000142363 (fasta)

Gene Model

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

AlphaFold

Q9CYA6

Predicted Effect

probably damaging
Transcript: ENSMUST00000031376
AA Change: T519K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031376
Gene: ENSMUSG00000029427
AA Change: T519K

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

noncoding transcript
Transcript: ENSMUST00000196042

Predicted Effect

probably damaging
Transcript: ENSMUST00000196282
AA Change: T519K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142363
Gene: ENSMUSG00000029427
AA Change: T519K

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: ENSMUST00000198826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199875

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(12) : Gene trapped(12)

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	C	11: 69,780,336 (GRCm39)	L36V	possibly damaging	Het
Aoc1l1	G	A	6: 48,953,194 (GRCm39)	G373D	probably damaging	Het
Atp13a3	T	C	16: 30,166,524 (GRCm39)	T540A	possibly damaging	Het
Bend5	A	C	4: 111,316,964 (GRCm39)	I376L	probably benign	Het
Ccdc138	T	C	10: 58,380,736 (GRCm39)		probably benign	Het
Cdh10	T	A	15: 18,986,975 (GRCm39)	I402N	possibly damaging	Het
Cfap44	T	C	16: 44,257,525 (GRCm39)	V1020A	probably damaging	Het
Chd2	A	T	7: 73,130,816 (GRCm39)	S749T	possibly damaging	Het
Enpp3	T	A	10: 24,652,692 (GRCm39)	D755V	probably damaging	Het
Fmo6	T	A	1: 162,748,033 (GRCm39)	K344*	probably null	Het
Gabbr1	A	G	17: 37,380,957 (GRCm39)	T767A	possibly damaging	Het
Gjd3	A	G	11: 98,873,587 (GRCm39)	S86P	probably damaging	Het
Grin1	A	G	2: 25,188,513 (GRCm39)	V432A	possibly damaging	Het
Igf2r	A	T	17: 12,912,079 (GRCm39)	C1849*	probably null	Het
Jcad	G	T	18: 4,680,266 (GRCm39)		probably benign	Het
Mrgpra4	A	T	7: 47,630,808 (GRCm39)	C264*	probably null	Het
Naa80	G	T	9: 107,460,798 (GRCm39)	R231L	probably benign	Het
Napepld	T	C	5: 21,881,065 (GRCm39)	Y110C	probably damaging	Het
Ncapd3	A	G	9: 26,963,117 (GRCm39)	E474G	probably damaging	Het
Pkhd1	T	A	1: 20,271,451 (GRCm39)	D3034V	probably damaging	Het
Plxnc1	T	C	10: 94,758,587 (GRCm39)	T370A	possibly damaging	Het
Ptger4	C	T	15: 5,272,655 (GRCm39)	R13H	probably benign	Het
Scg2	T	A	1: 79,413,941 (GRCm39)	T261S	probably benign	Het
Sfswap	T	C	5: 129,616,855 (GRCm39)	V433A	probably benign	Het
Sipa1l3	A	G	7: 29,086,686 (GRCm39)	Y635H	probably damaging	Het
Sp5	C	A	2: 70,306,758 (GRCm39)	P148T	possibly damaging	Het
Tlr5	A	G	1: 182,801,449 (GRCm39)	N251S	possibly damaging	Het
Tmem87a	A	T	2: 120,227,861 (GRCm39)	N95K	probably damaging	Het
Unc45b	C	T	11: 82,813,745 (GRCm39)	T384M	probably damaging	Het
Unc5c	T	C	3: 141,420,408 (GRCm39)	L117P	probably damaging	Het
Vcan	T	C	13: 89,873,684 (GRCm39)	N57D	probably damaging	Het
Zfp729b	G	A	13: 67,743,349 (GRCm39)	T72I	probably benign	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
IGL01536:Zcchc8	APN	5	123,858,782 (GRCm39)	critical splice donor site	probably null
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

2015-04-16