Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02419:Zc3h12a'

292594

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zc3h12a

Ensembl Gene

ENSMUSG00000042677

Gene Name

zinc finger CCCH type containing 12A

Synonyms

Mcpip1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.859) question?

Stock #

IGL02419

Quality Score

Status

Chromosome

Chromosomal Location

125118423-125127840 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125119788 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 428 (T428A)

Ref Sequence

ENSEMBL: ENSMUSP00000037172 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000036188
AA Change: T428A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037172
Gene: ENSMUSG00000042677
AA Change: T428A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131685

Coding Region Coverage

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	T	C	8: 87,586,099	F171L	possibly damaging	Het
Abca2	A	G	2: 25,446,837	N2291D	probably benign	Het
Adamts9	A	G	6: 92,796,997	V1145A	probably benign	Het
Adcy2	A	G	13: 68,982,363	V135A	probably benign	Het
Akr1c14	A	T	13: 4,080,617		probably null	Het
Aptx	G	T	4: 40,691,032	A229E	probably benign	Het
Ash1l	T	C	3: 88,985,565	S1584P	probably benign	Het
Catsper3	A	T	13: 55,808,068	T329S	possibly damaging	Het
Cntrl	A	G	2: 35,134,043	D27G	probably damaging	Het
Cobll1	A	T	2: 65,151,048	I98K	probably damaging	Het
Ctdp1	T	C	18: 80,420,584	K79R	probably damaging	Het
Cwf19l2	T	C	9: 3,418,777		probably null	Het
Cyp11b2	A	T	15: 74,851,055	F498Y	probably damaging	Het
Dnpep	A	G	1: 75,315,688	I162T	probably damaging	Het
Efcab9	T	C	11: 32,522,950	I166V	probably benign	Het
Ep400	A	T	5: 110,697,376		probably null	Het
Gata6	G	A	18: 11,054,220	G50R	probably damaging	Het
Gm9631	G	A	11: 121,943,652			Het
Grifin	T	C	5: 140,564,700	T20A	probably benign	Het
Hnf4a	A	T	2: 163,566,282	I352F	probably damaging	Het
Ifi204	T	C	1: 173,749,380	T552A	possibly damaging	Het
Ifi205	C	T	1: 174,017,614	A201T	probably damaging	Het
Kcnk6	A	G	7: 29,225,202	V259A	probably benign	Het
Kif21b	A	G	1: 136,151,267	N451S	probably benign	Het
Klhl24	T	A	16: 20,107,368	Y215*	probably null	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Mical1	A	G	10: 41,482,277	K429E	possibly damaging	Het
Misp	A	G	10: 79,827,871		probably benign	Het
Mon2	T	C	10: 123,016,447	N1007S	probably benign	Het
Olfr1420	A	T	19: 11,896,822	Y267F	probably benign	Het
Olfr228	T	A	2: 86,482,915	I276F	probably damaging	Het
Olfr307	C	A	7: 86,335,662	V245F	probably damaging	Het
Olfr624	A	T	7: 103,670,475	C185*	probably null	Het
Pex6	C	A	17: 46,724,435	T840N	possibly damaging	Het
Prox1	C	T	1: 190,161,130	A373T	probably benign	Het
Rapgef3	G	T	15: 97,750,290	N679K	probably benign	Het
Serpina3n	T	C	12: 104,413,518	V390A	possibly damaging	Het
Sirpb1a	A	G	3: 15,426,338	F23S	probably benign	Het
Slc44a3	T	C	3: 121,490,257	T449A	probably benign	Het
Smad6	G	A	9: 63,953,518		probably benign	Het
Sos2	C	T	12: 69,616,990	M573I	probably benign	Het
St8sia1	A	T	6: 142,828,935	I306N	probably damaging	Het
Tnks1bp1	T	C	2: 85,071,781	S1674P	possibly damaging	Het
Trim47	G	A	11: 116,106,201	R576W	probably damaging	Het
Wdr86	A	T	5: 24,722,704	I79N	probably damaging	Het
Wwp2	T	A	8: 107,549,815	V473D	probably damaging	Het
Zfp592	A	G	7: 81,038,245	E973G	probably 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
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
R8516:Zc3h12a	UTSW	4	125119839	missense	probably damaging	0.99
X0026:Zc3h12a	UTSW	4	125126871	missense	probably damaging	1.00

Posted On

2015-04-16