Mutagenetix > Incidental Mutations

Incidental Mutation 'R8516:Zc3h12a'

656134

Institutional Source

Beutler Lab

Gene Symbol

Zc3h12a

Ensembl Gene

ENSMUSG00000042677

Gene Name

zinc finger CCCH type containing 12A

Synonyms

Mcpip1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.798) question?

Stock #

R8516 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125118423-125127840 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125119839 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 411 (S411C)

Ref Sequence

ENSEMBL: ENSMUSP00000037172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036188]

AlphaFold

Q5D1E7

Predicted Effect

probably damaging
Transcript: ENSMUST00000036188
AA Change: S411C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037172
Gene: ENSMUSG00000042677
AA Change: S411C

Domain	Start	End	E-Value	Type
Pfam:RNase_Zc3h12a	134	290	3.2e-66	PFAM
low complexity region	354	368	N/A	INTRINSIC
low complexity region	476	487	N/A	INTRINSIC
low complexity region	494	508	N/A	INTRINSIC
low complexity region	514	544	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ZC3H12A is an MCP1 (CCL2; MIM 158105)-induced protein that acts as a transcriptional activator and causes cell death of cardiomyocytes, possibly via induction of genes associated with apoptosis.[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit splenomegaly, lymphadenopathy, hyperimmunoglobulinemia, increased auto-antibodies, and defective IL6 post-transcriptional regulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	T	9: 4,309,373	S22T	probably benign	Het
Actr8	G	T	14: 29,990,899	A500S	probably benign	Het
Adamtsl1	A	G	4: 86,342,543	Y1005C	probably damaging	Het
Ank3	T	A	10: 69,927,729	Y884*	probably null	Het
Arhgap28	T	C	17: 67,873,073	R306G	probably benign	Het
Atp8a2	A	C	14: 59,691,472	I1044M	probably benign	Het
Bahd1	A	G	2: 118,916,971	Y357C	probably benign	Het
Btd	A	T	14: 31,666,867	T182S	probably damaging	Het
Casc3	C	T	11: 98,822,781	R280C	probably damaging	Het
Cisd2	T	C	3: 135,411,013	T106A	probably damaging	Het
Cldn15	G	T	5: 136,974,696	C184F	probably damaging	Het
Clk4	G	A	11: 51,275,261	R198Q	probably damaging	Het
Coprs	G	T	8: 13,885,065	F163L	probably damaging	Het
Csmd3	G	A	15: 47,629,365	R2216*	probably null	Het
Defb7	A	T	8: 19,497,607	I43F	possibly damaging	Het
Dpp8	C	A	9: 65,078,009	T783K	probably damaging	Het
Eif2s1	G	A	12: 78,881,162	G204D	probably damaging	Het
Elavl4	T	C	4: 110,251,379	N56S	probably damaging	Het
Emilin1	G	A	5: 30,917,171	R252H	probably damaging	Het
Exd1	A	T	2: 119,520,073	L569Q	probably damaging	Het
Gm498	T	A	7: 143,897,274	I342N	probably damaging	Het
Gpn2	C	T	4: 133,584,831	R125C	probably damaging	Het
Gria2	T	C	3: 80,706,987	E582G	probably benign	Het
Hadha	A	T	5: 30,126,584	V458E	probably damaging	Het
Hap1	T	C	11: 100,356,067	K4R	possibly damaging	Het
Hectd4	A	T	5: 121,349,010	H3356L	possibly damaging	Het
Herc2	G	A	7: 56,206,570	V3919I	probably benign	Het
Lgr6	G	T	1: 135,075,283	N76K	probably damaging	Het
Olfr692	A	G	7: 105,368,769	I148V	probably benign	Het
P4ha3	A	G	7: 100,314,662	M462V	probably damaging	Het
Pde3b	A	T	7: 114,526,849	M773L	probably benign	Het
Peak1	T	C	9: 56,260,000	S215G	probably damaging	Het
Pgm5	T	A	19: 24,815,710	M331L	probably benign	Het
Piwil2	A	G	14: 70,420,739	V213A	probably benign	Het
Plch2	T	C	4: 154,986,307	H1205R	probably benign	Het
Pop4	A	T	7: 38,267,402	M85K	probably benign	Het
Ppp3ca	T	A	3: 136,877,768	I212N	probably damaging	Het
Prom1	T	C	5: 44,007,099	K714R	probably benign	Het
Psip1	C	T	4: 83,466,715	G207S	probably benign	Het
Rgs22	A	G	15: 36,010,335	*1259Q	probably null	Het
Scn1a	C	T	2: 66,326,134	G477D	possibly damaging	Het
Sf3b1	T	C	1: 55,012,103	E222G	probably null	Het
Snrpa1	G	A	7: 66,070,633	G195R	probably benign	Het
Spem2	T	C	11: 69,816,895	R415G	possibly damaging	Het
Tmem167	T	A	13: 90,098,396	V13E	probably damaging	Het
Trim2	C	T	3: 84,208,320	A102T	probably damaging	Het
Trim30b	A	G	7: 104,357,404	S82P	probably benign	Het
Uba6	A	C	5: 86,127,748	S760R	possibly damaging	Het
Upf2	T	C	2: 6,018,971	F711L	unknown	Het
Utrn	T	A	10: 12,486,510	D2693V	probably damaging	Het
Vmn1r30	T	G	6: 58,435,124	Y241S	probably damaging	Het
Vmn2r110	A	G	17: 20,574,613	L598P	probably damaging	Het
Wfdc18	T	A	11: 83,709,158	F14Y	probably benign	Het
Wnt10b	A	T	15: 98,772,880	C256S	probably damaging	Het
Xrn1	T	A	9: 96,048,391	Y1554*	probably null	Het
Zfp112	G	A	7: 24,123,964	G63E	probably benign	Het
Zfp786	A	T	6: 47,820,543	L487Q	probably damaging	Het
Zfp953	T	A	13: 67,345,355	Y75F	possibly damaging	Het

Other mutations in Zc3h12a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01928:Zc3h12a	APN	4	125119986	missense	probably benign	0.00
IGL02419:Zc3h12a	APN	4	125119788	missense	probably benign
IGL03085:Zc3h12a	APN	4	125127020	missense	probably benign	0.19
IGL03181:Zc3h12a	APN	4	125119304	missense	probably damaging	1.00
I1329:Zc3h12a	UTSW	4	125119364	missense	possibly damaging	0.85
P0022:Zc3h12a	UTSW	4	125119409	missense	possibly damaging	0.69
R2084:Zc3h12a	UTSW	4	125120009	missense	probably benign	0.00
R2149:Zc3h12a	UTSW	4	125126642	missense	possibly damaging	0.77
R2404:Zc3h12a	UTSW	4	125119523	missense	probably damaging	1.00
R3862:Zc3h12a	UTSW	4	125126939	missense	probably benign
R3891:Zc3h12a	UTSW	4	125126885	missense	probably damaging	1.00
R4707:Zc3h12a	UTSW	4	125120893	missense	probably damaging	1.00
R5215:Zc3h12a	UTSW	4	125126913	missense	probably benign	0.17
R5283:Zc3h12a	UTSW	4	125126765	missense	probably benign	0.11
R5570:Zc3h12a	UTSW	4	125120373	missense	probably damaging	1.00
R7972:Zc3h12a	UTSW	4	125119935	missense	probably benign	0.43
R8311:Zc3h12a	UTSW	4	125126995	missense	possibly damaging	0.95
R8872:Zc3h12a	UTSW	4	125126619	missense	probably damaging	1.00
R8989:Zc3h12a	UTSW	4	125120950	missense	probably damaging	1.00
R9428:Zc3h12a	UTSW	4	125126765	missense	probably benign	0.11
X0026:Zc3h12a	UTSW	4	125126871	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCATGGCTGGTCTAAAAGG -3'
(R):5'- TCCAGTCAAGGACAAAAGTAGC -3'

Sequencing Primer
(F):5'- GGATCCATAGCTGTGATAACCTGC -3'
(R):5'- CCAGAGGCCTTCCCCTG -3'

Posted On

2020-10-20