Incidental Mutation 'R3891:Zc3h12a'
ID 310384
Institutional Source Beutler Lab
Gene Symbol Zc3h12a
Ensembl Gene ENSMUSG00000042677
Gene Name zinc finger CCCH type containing 12A
Synonyms Mcpip1
MMRRC Submission 040803-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.762) question?
Stock # R3891 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 125012216-125021633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125020678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 55 (F55S)
Ref Sequence ENSEMBL: ENSMUSP00000037172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036188]
AlphaFold Q5D1E7
Predicted Effect probably damaging
Transcript: ENSMUST00000036188
AA Change: F55S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037172
Gene: ENSMUSG00000042677
AA Change: F55S

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
Meta Mutation Damage Score 0.3029 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (51/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 A G 4: 128,655,847 (GRCm39) T72A probably damaging Het
Ascc3 T A 10: 50,718,289 (GRCm39) I1994N probably damaging Het
C1qb A T 4: 136,607,727 (GRCm39) V212E probably damaging Het
Cfap54 T A 10: 92,874,708 (GRCm39) I563F possibly damaging Het
Clip2 T C 5: 134,551,847 (GRCm39) K92E probably damaging Het
Clrn3 T C 7: 135,120,194 (GRCm39) T131A possibly damaging Het
Col9a1 T C 1: 24,224,517 (GRCm39) probably null Het
Def8 T C 8: 124,185,083 (GRCm39) probably benign Het
Diaph1 C A 18: 38,033,691 (GRCm39) probably benign Het
Dmrta1 A T 4: 89,579,831 (GRCm39) I264F possibly damaging Het
Dscaml1 A T 9: 45,628,782 (GRCm39) D1112V possibly damaging Het
Ehbp1l1 A G 19: 5,768,340 (GRCm39) S988P possibly damaging Het
Gabrr2 A G 4: 33,081,348 (GRCm39) Y4C probably damaging Het
Gm10088 T C 16: 18,847,001 (GRCm39) noncoding transcript Het
Gm5616 A G 9: 48,361,809 (GRCm39) noncoding transcript Het
H2-T24 T A 17: 36,326,330 (GRCm39) I190F possibly damaging Het
Hmcn1 A T 1: 150,510,946 (GRCm39) D3592E probably damaging Het
Il1rap A G 16: 26,495,606 (GRCm39) Y71C probably damaging Het
Krt1 T A 15: 101,758,847 (GRCm39) S106C unknown Het
Lsamp T C 16: 39,805,054 (GRCm39) V11A probably benign Het
Mob1b T A 5: 88,901,061 (GRCm39) I156K probably damaging Het
Naip2 T A 13: 100,297,606 (GRCm39) E810V probably damaging Het
Nfe2l1 A G 11: 96,710,823 (GRCm39) S181P possibly damaging Het
Nos1ap T C 1: 170,177,025 (GRCm39) Y126C probably damaging Het
Nuak2 G T 1: 132,259,223 (GRCm39) A342S possibly damaging Het
Or10ah1-ps1 G T 5: 143,123,152 (GRCm39) S290R probably benign Het
Or2aj5 A G 16: 19,425,205 (GRCm39) I71T probably damaging Het
Or2t1 T A 14: 14,328,114 (GRCm38) M1K probably null Het
Pcdhb16 A T 18: 37,612,422 (GRCm39) I461F probably benign Het
Pcdhga10 A C 18: 37,882,534 (GRCm39) H765P probably benign Het
Pex2 C T 3: 5,626,008 (GRCm39) C267Y probably damaging Het
Pgghg T C 7: 140,525,616 (GRCm39) I473T probably damaging Het
Polr2e G T 10: 79,873,213 (GRCm39) P80T probably benign Het
Pum1 T C 4: 130,491,393 (GRCm39) L774P probably damaging Het
Rasef A G 4: 73,698,634 (GRCm39) V9A probably benign Het
Rpl13 A G 8: 123,831,907 (GRCm39) E201G probably damaging Het
Skint2 A G 4: 112,481,383 (GRCm39) E82G probably damaging Het
Skor2 A G 18: 76,946,350 (GRCm39) D24G unknown Het
Slc19a3 A T 1: 83,000,678 (GRCm39) F113Y probably damaging Het
Slc29a3 T A 10: 60,552,040 (GRCm39) K335* probably null Het
Slc30a6 T A 17: 74,726,541 (GRCm39) D282E probably benign Het
Slc9a7 A G X: 20,052,352 (GRCm39) F247S probably damaging Het
Slx4 A T 16: 3,797,773 (GRCm39) I1537N probably damaging Het
Specc1 C T 11: 62,042,739 (GRCm39) T872M probably benign Het
Stard10 G A 7: 100,993,137 (GRCm39) R231Q possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tesl1 A G X: 23,773,180 (GRCm39) Y227C probably damaging Het
Vwa1 T C 4: 155,857,651 (GRCm39) E49G probably damaging Het
Zmym4 A G 4: 126,798,269 (GRCm39) I786T probably benign Het
Other mutations in Zc3h12a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01928:Zc3h12a APN 4 125,013,779 (GRCm39) missense probably benign 0.00
IGL02419:Zc3h12a APN 4 125,013,581 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CCACATTGCTTCCGTCGATG -3'
(R):5'- TGAAATATGAGTGACCCTTGTGG -3'

Sequencing Primer
(F):5'- TGCTTCCGTCGATGACCACAG -3'
(R):5'- TGACCCTTGTGGAACGAAGC -3'
Posted On 2015-04-17