Mutagenetix > Incidental Mutations

Incidental Mutation 'R8791:Zcchc8'

670937

Institutional Source

Beutler Lab

Gene Symbol

Zcchc8

Ensembl Gene

ENSMUSG00000029427

Gene Name

zinc finger, CCHC domain containing 8

Synonyms

5730565F05Rik

MMRRC Submission

Accession Numbers

Genbank: NM_027494; MGI: 1917900

Is this an essential gene?

Possibly non essential (E-score: 0.379) question?

Stock #

R8791 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123698294-123721100 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123707299 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 333 (N333D)

Ref Sequence

ENSEMBL: ENSMUSP00000031376 (fasta)

Gene Model

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

AlphaFold

Q9CYA6

Predicted Effect

probably benign
Transcript: ENSMUST00000031376
AA Change: N333D

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000031376
Gene: ENSMUSG00000029427
AA Change: N333D

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
AA Change: N333D

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000142363
Gene: ENSMUSG00000029427
AA Change: N333D

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: ENSMUST00000200161

Meta Mutation Damage Score

0.0774

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (47/47)

Allele List at MGI

All alleles(12) : Gene trapped(12)

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,187,260	Y654C	probably damaging	Het
4931422A03Rik	G	T	2: 103,992,677	T87K	possibly damaging	Het
Adar	G	A	3: 89,736,138	R442Q	probably benign	Het
Agtr1b	T	A	3: 20,316,116	S109C	probably damaging	Het
Akr1c6	T	A	13: 4,449,374	Y248N	probably benign	Het
Alpk2	A	T	18: 65,305,526	V932E	probably benign	Het
Apba3	T	A	10: 81,269,270	S126T	probably benign	Het
Brca2	T	A	5: 150,542,596	S1942T	possibly damaging	Het
Ccdc149	C	T	5: 52,439,210	C20Y	probably damaging	Het
Cd63	C	A	10: 128,912,202	N156K	probably benign	Het
Clvs1	A	G	4: 9,429,807	E270G	probably damaging	Het
Dgki	A	T	6: 37,019,940	D574E	probably damaging	Het
Esrrb	A	G	12: 86,470,282	S63G	probably damaging	Het
Exoc1	C	T	5: 76,535,565	R46C	probably damaging	Het
Fcgr4	C	A	1: 171,019,908	A25D	probably damaging	Het
Fgf4	T	C	7: 144,861,671	V56A	probably benign	Het
Gfpt2	A	G	11: 49,823,216	I267V	probably benign	Het
Gm20939	A	C	17: 94,877,220	H432P	probably damaging	Het
Gpr179	A	T	11: 97,351,913	L35Q	probably damaging	Het
Idh1	CA	CAA	1: 65,165,188		probably null	Het
Ildr1	T	C	16: 36,708,400	I69T	probably damaging	Het
Lrfn1	A	G	7: 28,459,919	D421G	probably benign	Het
Mmp15	C	T	8: 95,369,660	Q360*	probably null	Het
Nfatc2	T	C	2: 168,536,294	K484E	probably damaging	Het
Nkpd1	G	C	7: 19,524,170	V625L	probably benign	Het
Nlrp4a	C	A	7: 26,444,136		probably benign	Het
Nme9	T	A	9: 99,468,248	I178N	probably damaging	Het
Nrp2	C	T	1: 62,749,197	T352I	probably damaging	Het
Ntrk1	T	C	3: 87,779,683	I723V	probably damaging	Het
Olfr469	C	T	7: 107,823,350	V40M	possibly damaging	Het
Pias3	C	A	3: 96,704,885	Q553K	probably benign	Het
Pnp2	T	G	14: 50,963,416	H119Q	probably benign	Het
Rapgef6	T	A	11: 54,568,469	D156E	probably benign	Het
Rint1	T	C	5: 23,800,596	V92A	probably damaging	Het
Rnf148	A	T	6: 23,654,994	M1K	probably null	Het
Rnh1	C	T	7: 141,162,433	R404H	probably benign	Het
Slc4a8	T	C	15: 100,807,253	V832A	possibly damaging	Het
Snx31	A	T	15: 36,537,532	C167S	probably benign	Het
Spata13	C	T	14: 60,691,826	R278C	probably damaging	Het
Spg20	A	G	3: 55,121,679	D297G	probably benign	Het
Tmc1	T	C	19: 20,789,845	T716A	probably benign	Het
Tpi1	A	G	6: 124,812,520	V164A	probably damaging	Het
Trim17	A	G	11: 58,971,176	S345G	probably benign	Het
Vmn1r199	T	A	13: 22,383,517	L327Q	probably damaging	Het
Washc4	C	T	10: 83,550,884	T124I	probably benign	Het
Wdr76	C	T	2: 121,527,003	T180I	probably benign	Het
Zfp516	T	C	18: 82,957,335	S553P	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
IGL01536:Zcchc8	APN	5	123720719	critical splice donor site	probably null
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
R8738:Zcchc8	UTSW	5	123703007	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCAGCCATCCCTGTCATTAG -3'
(R):5'- ACTTCATGCTATGTAGTATGGGAC -3'

Sequencing Primer
(F):5'- CGAGCTGGCTTCAAACTGAGATC -3'
(R):5'- TGCTCTTTCAGAGGACACAG -3'

Posted On

2021-04-30