Mutagenetix > Incidental Mutations

Incidental Mutation 'R2216:Zcchc8'

241147

Institutional Source

Beutler Lab

Gene Symbol

Zcchc8

Ensembl Gene

ENSMUSG00000029427

Gene Name

zinc finger, CCHC domain containing 8

Synonyms

5730565F05Rik

MMRRC Submission

040218-MU

Accession Numbers

Genbank: NM_027494; MGI: 1917900

Is this an essential gene?

Possibly non essential (E-score: 0.291) question?

Stock #

R2216 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123698294-123721100 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123707403 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 298 (L298P)

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: L298P

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

SMART Domains

Protein: ENSMUSP00000031376
Gene: ENSMUSG00000029427
AA Change: L298P

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

noncoding transcript
Transcript: ENSMUST00000196042

Predicted Effect

probably damaging
Transcript: ENSMUST00000196282
AA Change: L298P

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

SMART Domains

Protein: ENSMUSP00000142363
Gene: ENSMUSG00000029427
AA Change: L298P

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

noncoding transcript
Transcript: ENSMUST00000199875

Predicted Effect

probably benign
Transcript: ENSMUST00000200161

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

All alleles(12) : Gene trapped(12)

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	G	T	11: 72,031,446	P146T	probably damaging	Het
Arnt2	T	A	7: 84,275,351	T423S	probably damaging	Het
Bend5	A	G	4: 111,448,590	N277S	probably null	Het
Cd22	G	T	7: 30,867,046	T816N	probably damaging	Het
Cep126	G	A	9: 8,120,678	R115C	probably damaging	Het
Cep85	T	C	4: 134,131,430	H710R	possibly damaging	Het
Cmya5	A	T	13: 93,093,495	L1695H	probably damaging	Het
Col24a1	T	C	3: 145,314,981	V371A	probably benign	Het
Csmd1	T	A	8: 17,027,339		probably null	Het
Cyp1a1	T	A	9: 57,702,069		probably null	Het
Dennd1c	C	T	17: 57,074,492		probably null	Het
Dmxl1	G	A	18: 49,893,923	V2033I	probably benign	Het
Dtna	A	G	18: 23,569,565	H51R	probably damaging	Het
Dysf	G	A	6: 84,207,245		probably null	Het
Gcn1l1	T	A	5: 115,593,661	V945E	probably benign	Het
Gm12800	T	A	4: 101,910,060	W169R	probably damaging	Het
Gpbar1	C	G	1: 74,278,894	L99V	probably damaging	Het
Hdac9	A	T	12: 34,429,517	D212E	probably damaging	Het
Itga1	A	T	13: 114,997,029	D448E	probably benign	Het
Itga2b	T	A	11: 102,467,866	N75I	probably benign	Het
Klra7	T	C	6: 130,228,586	E117G	probably benign	Het
Kmt2b	G	A	7: 30,574,065	R2349C	probably benign	Het
Masp1	T	C	16: 23,492,055	N209S	probably benign	Het
Mybpc2	C	T	7: 44,512,500		probably null	Het
Myh15	C	G	16: 49,165,838	S1557*	probably null	Het
Myo3a	A	C	2: 22,577,771	T346P	probably benign	Het
Nim1k	A	G	13: 119,714,215	Y152H	probably damaging	Het
Nrp2	C	T	1: 62,762,918	R507*	probably null	Het
Olfr513	C	T	7: 108,755,612	T252M	probably damaging	Het
Olfr702	T	A	7: 106,823,998	H176L	probably damaging	Het
Parp14	T	C	16: 35,857,205	I798V	probably benign	Het
Pcnx2	C	T	8: 125,888,077	A212T	probably benign	Het
Pkhd1l1	A	T	15: 44,573,895	H3522L	probably damaging	Het
Pram1	C	T	17: 33,641,284	A275V	probably benign	Het
Prkag1	A	T	15: 98,815,946	M1K	probably null	Het
Prss52	T	C	14: 64,113,593	S276P	probably damaging	Het
Ranbp17	A	T	11: 33,481,125	V284D	probably damaging	Het
Reln	T	C	5: 22,048,005	D648G	probably benign	Het
Rnf112	A	G	11: 61,452,279	L190P	probably damaging	Het
Scn5a	G	T	9: 119,485,612	P2010Q	probably benign	Het
Scn5a	T	C	9: 119,513,085	Y1138C	probably benign	Het
Slc4a9	A	G	18: 36,530,745	H274R	probably benign	Het
Slc5a6	T	G	5: 31,039,335	E391D	possibly damaging	Het
Speer2	T	C	16: 69,858,842	Q32R	possibly damaging	Het
Tars	A	G	15: 11,389,708	V372A	probably benign	Het
Thsd7a	A	T	6: 12,337,268	L1250Q	possibly damaging	Het
Tnnt3	A	G	7: 142,512,564	Y222C	probably benign	Het
Trim40	T	C	17: 36,888,983	I68V	probably benign	Het
Trp53tg5	T	C	2: 164,471,306	I150V	probably benign	Het
Ube2u	T	C	4: 100,532,168	V109A	probably benign	Het
Usp54	A	T	14: 20,561,840	D969E	probably benign	Het
Vil1	G	T	1: 74,425,679	R495L	probably benign	Het
Wfs1	T	A	5: 36,967,220	K700*	probably null	Het
Zfp946	A	T	17: 22,454,716	Q150H	possibly 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
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
R8791:Zcchc8	UTSW	5	123707299	missense	probably benign	0.06

Predicted Primers

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

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

Posted On

2014-10-15