Incidental Mutation 'IGL02419:Zc3h12a'
ID 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
Essential gene? Probably essential (E-score: 0.762) question?
Stock # IGL02419
Quality Score
Status
Chromosome 4
Chromosomal Location 125012216-125021633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125013581 bp (GRCm39)
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]
AlphaFold Q5D1E7
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik T C 8: 88,312,727 (GRCm39) F171L possibly damaging Het
Abca2 A G 2: 25,336,849 (GRCm39) N2291D probably benign Het
Adamts9 A G 6: 92,773,978 (GRCm39) V1145A probably benign Het
Adcy2 A G 13: 69,130,482 (GRCm39) V135A probably benign Het
Akr1c14 A T 13: 4,130,617 (GRCm39) probably null Het
Aptx G T 4: 40,691,032 (GRCm39) A229E probably benign Het
Ash1l T C 3: 88,892,872 (GRCm39) S1584P probably benign Het
Catsper3 A T 13: 55,955,881 (GRCm39) T329S possibly damaging Het
Cntrl A G 2: 35,024,055 (GRCm39) D27G probably damaging Het
Cobll1 A T 2: 64,981,392 (GRCm39) I98K probably damaging Het
Ctdp1 T C 18: 80,463,799 (GRCm39) K79R probably damaging Het
Cwf19l2 T C 9: 3,418,777 (GRCm39) probably null Het
Cyp11b2 A T 15: 74,722,904 (GRCm39) F498Y probably damaging Het
Dnpep A G 1: 75,292,332 (GRCm39) I162T probably damaging Het
Efcab9 T C 11: 32,472,950 (GRCm39) I166V probably benign Het
Ep400 A T 5: 110,845,242 (GRCm39) probably null Het
Gata6 G A 18: 11,054,220 (GRCm39) G50R probably damaging Het
Gm9631 G A 11: 121,834,478 (GRCm39) Het
Grifin T C 5: 140,550,455 (GRCm39) T20A probably benign Het
Hnf4a A T 2: 163,408,202 (GRCm39) I352F probably damaging Het
Ifi204 T C 1: 173,576,946 (GRCm39) T552A possibly damaging Het
Ifi205 C T 1: 173,845,180 (GRCm39) A201T probably damaging Het
Kcnk6 A G 7: 28,924,627 (GRCm39) V259A probably benign Het
Kif21b A G 1: 136,079,005 (GRCm39) N451S probably benign Het
Klhl24 T A 16: 19,926,118 (GRCm39) Y215* probably null Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mical1 A G 10: 41,358,273 (GRCm39) K429E possibly damaging Het
Misp A G 10: 79,663,705 (GRCm39) probably benign Het
Mon2 T C 10: 122,852,352 (GRCm39) N1007S probably benign Het
Or10v1 A T 19: 11,874,186 (GRCm39) Y267F probably benign Het
Or14a260 C A 7: 85,984,870 (GRCm39) V245F probably damaging Het
Or51v8 A T 7: 103,319,682 (GRCm39) C185* probably null Het
Or8k41 T A 2: 86,313,259 (GRCm39) I276F probably damaging Het
Pex6 C A 17: 47,035,361 (GRCm39) T840N possibly damaging Het
Prox1 C T 1: 189,893,327 (GRCm39) A373T probably benign Het
Rapgef3 G T 15: 97,648,171 (GRCm39) N679K probably benign Het
Serpina3n T C 12: 104,379,777 (GRCm39) V390A possibly damaging Het
Sirpb1a A G 3: 15,491,398 (GRCm39) F23S probably benign Het
Slc44a3 T C 3: 121,283,906 (GRCm39) T449A probably benign Het
Smad6 G A 9: 63,860,800 (GRCm39) probably benign Het
Sos2 C T 12: 69,663,764 (GRCm39) M573I probably benign Het
St8sia1 A T 6: 142,774,661 (GRCm39) I306N probably damaging Het
Tnks1bp1 T C 2: 84,902,125 (GRCm39) S1674P possibly damaging Het
Trim47 G A 11: 115,997,027 (GRCm39) R576W probably damaging Het
Wdr86 A T 5: 24,927,702 (GRCm39) I79N probably damaging Het
Wwp2 T A 8: 108,276,447 (GRCm39) V473D probably damaging Het
Zfp592 A G 7: 80,687,993 (GRCm39) E973G probably damaging Het
Other mutations in Zc3h12a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01928:Zc3h12a APN 4 125,013,779 (GRCm39) missense probably benign 0.00
IGL03085:Zc3h12a APN 4 125,020,813 (GRCm39) missense probably benign 0.19
IGL03181:Zc3h12a APN 4 125,013,097 (GRCm39) missense probably damaging 1.00
I1329:Zc3h12a UTSW 4 125,013,157 (GRCm39) missense possibly damaging 0.85
P0022:Zc3h12a UTSW 4 125,013,202 (GRCm39) missense possibly damaging 0.69
R2084:Zc3h12a UTSW 4 125,013,802 (GRCm39) missense probably benign 0.00
R2149:Zc3h12a UTSW 4 125,020,435 (GRCm39) missense possibly damaging 0.77
R2404:Zc3h12a UTSW 4 125,013,316 (GRCm39) missense probably damaging 1.00
R3862:Zc3h12a UTSW 4 125,020,732 (GRCm39) missense probably benign
R3891:Zc3h12a UTSW 4 125,020,678 (GRCm39) missense probably damaging 1.00
R4707:Zc3h12a UTSW 4 125,014,686 (GRCm39) missense probably damaging 1.00
R5215:Zc3h12a UTSW 4 125,020,706 (GRCm39) missense probably benign 0.17
R5283:Zc3h12a UTSW 4 125,020,558 (GRCm39) missense probably benign 0.11
R5570:Zc3h12a UTSW 4 125,014,166 (GRCm39) missense probably damaging 1.00
R7972:Zc3h12a UTSW 4 125,013,728 (GRCm39) missense probably benign 0.43
R8311:Zc3h12a UTSW 4 125,020,788 (GRCm39) missense possibly damaging 0.95
R8516:Zc3h12a UTSW 4 125,013,632 (GRCm39) missense probably damaging 0.99
R8872:Zc3h12a UTSW 4 125,020,412 (GRCm39) missense probably damaging 1.00
R8989:Zc3h12a UTSW 4 125,014,743 (GRCm39) missense probably damaging 1.00
R9428:Zc3h12a UTSW 4 125,020,558 (GRCm39) missense probably benign 0.11
R9641:Zc3h12a UTSW 4 125,014,852 (GRCm39) missense probably damaging 1.00
X0026:Zc3h12a UTSW 4 125,020,664 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16