Incidental Mutation 'R6877:Zc3h12d'
ID 536472
Institutional Source Beutler Lab
Gene Symbol Zc3h12d
Ensembl Gene ENSMUSG00000039981
Gene Name zinc finger CCCH type containing 12D
Synonyms TFL, D730019B10Rik
MMRRC Submission 044973-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R6877 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 7708234-7746160 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 7715735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 46 (R46L)
Ref Sequence ENSEMBL: ENSMUSP00000040217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039484]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000039484
AA Change: R46L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040217
Gene: ENSMUSG00000039981
AA Change: R46L

DomainStartEndE-ValueType
Pfam:RNase_Zc3h12a 91 247 4e-67 PFAM
low complexity region 333 345 N/A INTRINSIC
Meta Mutation Damage Score 0.2462 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 94% (47/50)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit disrupted regulation of excessive inflammation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T C 8: 44,078,274 (GRCm39) H650R probably benign Het
Adgrl2 T C 3: 148,522,922 (GRCm39) Y1367C probably damaging Het
Aqr A T 2: 113,947,052 (GRCm39) C1043* probably null Het
Arhgef17 A G 7: 100,530,548 (GRCm39) S1413P probably damaging Het
AU041133 A G 10: 81,987,405 (GRCm39) T352A probably benign Het
Bcl7a A G 5: 123,489,958 (GRCm39) T41A probably damaging Het
Btbd10 A T 7: 112,921,967 (GRCm39) F298Y probably damaging Het
Ccdc57 G A 11: 120,764,528 (GRCm39) T749I probably benign Het
Clcnkb T C 4: 141,132,143 (GRCm39) N646S probably benign Het
Dcst1 T C 3: 89,257,667 (GRCm39) D701G probably benign Het
Dnah14 C A 1: 181,455,997 (GRCm39) T1001K possibly damaging Het
Dnah8 G T 17: 30,965,933 (GRCm39) G2422W probably damaging Het
Dyrk2 A T 10: 118,696,328 (GRCm39) I310N probably damaging Het
Eif5b A T 1: 38,089,320 (GRCm39) N1099Y probably damaging Het
Elp2 T A 18: 24,768,033 (GRCm39) N762K probably benign Het
Esco2 A G 14: 66,068,494 (GRCm39) V272A probably benign Het
Fat3 A C 9: 15,910,564 (GRCm39) S1813A probably benign Het
Igf2r A G 17: 12,916,228 (GRCm39) V1710A probably damaging Het
Iqgap3 GGAGAG GGAG 3: 88,020,078 (GRCm39) probably null Het
Kcnk5 T C 14: 20,194,784 (GRCm39) T185A possibly damaging Het
Litafd G A 16: 8,501,173 (GRCm39) V10I unknown Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Nol4 A T 18: 22,852,186 (GRCm39) C460S probably benign Het
Ntaq1 C A 15: 58,017,074 (GRCm39) P163Q probably damaging Het
Or10g3b T A 14: 52,587,270 (GRCm39) I78F possibly damaging Het
Or4f14b T C 2: 111,775,184 (GRCm39) I206V probably benign Het
Ovch2 G A 7: 107,389,315 (GRCm39) A371V probably benign Het
Pcdhb4 A G 18: 37,442,625 (GRCm39) D645G probably damaging Het
Pcnt A C 10: 76,269,851 (GRCm39) S207A possibly damaging Het
Pex1 A T 5: 3,685,505 (GRCm39) Q1211L probably benign Het
Pnn A G 12: 59,115,553 (GRCm39) E99G probably damaging Het
Prkrip1 A T 5: 136,218,478 (GRCm39) probably null Het
Rnf133 A G 6: 23,649,486 (GRCm39) F191L probably benign Het
Scn10a T C 9: 119,438,848 (GRCm39) T1674A probably damaging Het
Sdccag8 G A 1: 176,839,501 (GRCm39) V682M probably damaging Het
Spi1 T C 2: 90,944,741 (GRCm39) L162P probably damaging Het
Sptan1 C G 2: 29,920,985 (GRCm39) N2432K probably damaging Het
Stx2 A G 5: 129,064,884 (GRCm39) V271A probably benign Het
Sumf2 G A 5: 129,878,867 (GRCm39) D68N probably damaging Het
Tsc22d4 A G 5: 137,760,855 (GRCm39) E92G possibly damaging Het
Ube3c G T 5: 29,792,316 (GRCm39) R37L probably benign Het
Ubr5 A G 15: 38,002,814 (GRCm39) S1446P probably damaging Het
Veph1 T C 3: 66,162,505 (GRCm39) N51S probably damaging Het
Vmn1r82 T C 7: 12,039,290 (GRCm39) F70L possibly damaging Het
Vmn2r92 A G 17: 18,389,084 (GRCm39) N466S probably damaging Het
Vwf T A 6: 125,634,164 (GRCm39) V2153D possibly damaging Het
Yeats2 A G 16: 19,998,344 (GRCm39) T300A probably benign Het
Zfp516 T C 18: 82,973,916 (GRCm39) I38T probably damaging Het
Zic5 G A 14: 122,697,100 (GRCm39) T505I unknown Het
Zpld1 C T 16: 55,072,034 (GRCm39) G75E probably damaging Het
Other mutations in Zc3h12d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Zc3h12d APN 10 7,738,231 (GRCm39) missense probably damaging 1.00
IGL01013:Zc3h12d APN 10 7,715,720 (GRCm39) missense probably damaging 1.00
IGL02090:Zc3h12d APN 10 7,743,096 (GRCm39) missense probably benign 0.00
IGL02876:Zc3h12d APN 10 7,738,364 (GRCm39) missense probably damaging 0.99
R0040:Zc3h12d UTSW 10 7,743,678 (GRCm39) missense probably benign 0.02
R0040:Zc3h12d UTSW 10 7,743,678 (GRCm39) missense probably benign 0.02
R0242:Zc3h12d UTSW 10 7,738,330 (GRCm39) missense probably damaging 1.00
R0242:Zc3h12d UTSW 10 7,738,330 (GRCm39) missense probably damaging 1.00
R1942:Zc3h12d UTSW 10 7,729,077 (GRCm39) missense probably damaging 1.00
R2290:Zc3h12d UTSW 10 7,743,223 (GRCm39) missense probably benign 0.00
R2354:Zc3h12d UTSW 10 7,743,702 (GRCm39) missense probably benign 0.00
R4816:Zc3h12d UTSW 10 7,743,711 (GRCm39) missense probably damaging 1.00
R4932:Zc3h12d UTSW 10 7,729,014 (GRCm39) missense probably damaging 0.99
R5191:Zc3h12d UTSW 10 7,743,582 (GRCm39) missense possibly damaging 0.51
R5384:Zc3h12d UTSW 10 7,729,014 (GRCm39) missense probably damaging 1.00
R5396:Zc3h12d UTSW 10 7,742,090 (GRCm39) missense probably damaging 1.00
R6409:Zc3h12d UTSW 10 7,743,082 (GRCm39) missense probably benign 0.04
R6903:Zc3h12d UTSW 10 7,743,425 (GRCm39) missense probably benign
R6967:Zc3h12d UTSW 10 7,715,644 (GRCm39) missense probably damaging 1.00
R7312:Zc3h12d UTSW 10 7,743,345 (GRCm39) missense probably benign 0.00
R7594:Zc3h12d UTSW 10 7,738,382 (GRCm39) missense probably damaging 1.00
R7622:Zc3h12d UTSW 10 7,743,033 (GRCm39) missense probably damaging 1.00
R7645:Zc3h12d UTSW 10 7,743,340 (GRCm39) missense probably benign
R7769:Zc3h12d UTSW 10 7,743,390 (GRCm39) missense probably benign 0.03
R7864:Zc3h12d UTSW 10 7,715,723 (GRCm39) missense possibly damaging 0.83
R8371:Zc3h12d UTSW 10 7,715,735 (GRCm39) frame shift probably null
R8414:Zc3h12d UTSW 10 7,715,735 (GRCm39) frame shift probably null
R9255:Zc3h12d UTSW 10 7,729,022 (GRCm39) missense probably damaging 1.00
R9470:Zc3h12d UTSW 10 7,743,321 (GRCm39) missense possibly damaging 0.73
Z1177:Zc3h12d UTSW 10 7,743,572 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTGCCAGGAGGAAGCTTG -3'
(R):5'- ATAACAAGGTCTCTGGCCCC -3'

Sequencing Primer
(F):5'- AAGCTTGGGGCAGGAGC -3'
(R):5'- CCCAGCGCTCAGTAATAAGATG -3'
Posted On 2018-10-18