Mutagenetix > Incidental Mutations

Incidental Mutation 'R1251:Zc3h8'

151741

Institutional Source

Beutler Lab

Gene Symbol

Zc3h8

Ensembl Gene

ENSMUSG00000027387

Gene Name

zinc finger CCCH type containing 8

Synonyms

E130108N08Rik, Fliz1

MMRRC Submission

039318-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R1251 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128926268-128944077 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128935369 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 117 (P117S)

Ref Sequence

ENSEMBL: ENSMUSP00000028866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028866]

Predicted Effect

probably benign
Transcript: ENSMUST00000028866
AA Change: P117S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000028866
Gene: ENSMUSG00000027387
AA Change: P117S

Domain	Start	End	E-Value	Type
low complexity region	33	48	N/A	INTRINSIC
low complexity region	67	79	N/A	INTRINSIC
low complexity region	134	159	N/A	INTRINSIC
ZnF_C3H1	206	231	1.92e-2	SMART
ZnF_C3H1	235	260	6.99e-5	SMART
ZnF_C3H1	262	284	9.88e0	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 123,962,052	G495D	probably damaging	Het
Acap2	A	T	16: 31,108,171	Y509N	probably damaging	Het
Adcy9	T	A	16: 4,311,531	E497V	probably damaging	Het
Bcat2	T	G	7: 45,575,986	L56R	probably damaging	Het
Ccdc146	T	C	5: 21,293,372	M952V	probably benign	Het
Ccdc39	T	C	3: 33,826,480	K446R	probably damaging	Het
Cfap46	C	T	7: 139,601,265	V2607I	probably benign	Het
Clec18a	T	C	8: 111,081,638	I54V	possibly damaging	Het
Coil	A	G	11: 88,982,299	E455G	possibly damaging	Het
Copg1	A	T	6: 87,890,007	K75*	probably null	Het
Cyp2j12	G	A	4: 96,115,666	Q238*	probably null	Het
D17Wsu92e	C	T	17: 27,786,070		probably null	Het
Eif3i	T	C	4: 129,593,385	E229G	probably damaging	Het
Exoc2	T	A	13: 30,886,276	N411Y	probably benign	Het
Eya2	T	A	2: 165,754,484	M305K	probably damaging	Het
Faim	C	T	9: 98,992,634	T78M	probably damaging	Het
Fgg	T	A	3: 83,012,980	D355E	probably benign	Het
Foxn1	A	G	11: 78,358,785	L638P	probably damaging	Het
Grid2ip	A	T	5: 143,386,015	E664D	possibly damaging	Het
Il1rn	A	G	2: 24,345,570	R21G	probably damaging	Het
Inpp4b	G	A	8: 81,890,753	G220R	probably benign	Het
Irx6	A	G	8: 92,678,253	S250G	possibly damaging	Het
Lyst	T	C	13: 13,634,483	I246T	probably benign	Het
Mcm3	G	A	1: 20,812,672	Q353*	probably null	Het
Mfhas1	A	G	8: 35,591,053	Y894C	probably damaging	Het
Mfsd13a	T	C	19: 46,372,053	L348P	probably damaging	Het
Necab1	A	G	4: 15,111,192		probably null	Het
Nectin3	A	T	16: 46,463,842	S160T	possibly damaging	Het
Npc2	A	G	12: 84,760,884	S67P	probably damaging	Het
Olfr1036	G	A	2: 86,074,820	V27M	probably benign	Het
Olfr513	T	G	7: 108,754,907	F17C	probably damaging	Het
Pcnx3	A	G	19: 5,677,182	F1108L	probably benign	Het
Phf21a	G	A	2: 92,359,199	S601N	probably benign	Het
Pold1	C	T	7: 44,535,051	V842I	probably benign	Het
Rabgap1	A	G	2: 37,543,234		probably null	Het
Setd1a	T	A	7: 127,797,424		probably benign	Het
Sgo2a	A	T	1: 57,999,962		probably null	Het
Sult2a8	T	A	7: 14,425,425	K90*	probably null	Het
Tlr2	T	C	3: 83,838,269	D169G	possibly damaging	Het
Tmem95	A	G	11: 69,876,829	F153S	probably benign	Het
Tube1	G	T	10: 39,134,208	G10*	probably null	Het
Vmn2r10	T	C	5: 108,996,024	M687V	probably benign	Het
Zeb1	T	A	18: 5,705,089	D18E	probably damaging	Het

Other mutations in Zc3h8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02530:Zc3h8	APN	2	128943926	utr 5 prime	probably benign
R1657:Zc3h8	UTSW	2	128929957	critical splice acceptor site	probably benign
R5304:Zc3h8	UTSW	2	128928915	missense	probably benign
R5767:Zc3h8	UTSW	2	128930892	nonsense	probably null
R5840:Zc3h8	UTSW	2	128929904	missense	probably benign	0.00
R6174:Zc3h8	UTSW	2	128943855	nonsense	probably null
R7090:Zc3h8	UTSW	2	128935321	missense	possibly damaging	0.52
R7468:Zc3h8	UTSW	2	128933295	missense	probably benign	0.00
R7660:Zc3h8	UTSW	2	128930822	missense	probably damaging	0.96
R8725:Zc3h8	UTSW	2	128933287	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACAGGCACAGCCTCATCTTTCATAC -3'
(R):5'- AGCACCTTGGAAACGCTGCAAC -3'

Sequencing Primer
(F):5'- GCCTTTGATAACTCAGTAGCAGC -3'
(R):5'- CATCACCAAAGAGTTTGCTACG -3'

Posted On

2014-01-29