Incidental Mutation 'R7097:Zc3h12c'
ID 550569
Institutional Source Beutler Lab
Gene Symbol Zc3h12c
Ensembl Gene ENSMUSG00000035164
Gene Name zinc finger CCCH type containing 12C
Synonyms C230027N18Rik
MMRRC Submission 045189-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7097 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 52022644-52079872 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52027226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 731 (Q731L)
Ref Sequence ENSEMBL: ENSMUSP00000127603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165519] [ENSMUST00000213645]
AlphaFold Q5DTV4
Predicted Effect possibly damaging
Transcript: ENSMUST00000165519
AA Change: Q731L

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000127603
Gene: ENSMUSG00000035164
AA Change: Q731L

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 53 65 N/A INTRINSIC
low complexity region 106 121 N/A INTRINSIC
Pfam:RNase_Zc3h12a 264 420 1.6e-67 PFAM
low complexity region 644 659 N/A INTRINSIC
low complexity region 746 758 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000213645
AA Change: Q712L

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (75/76)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik A G 17: 9,224,052 (GRCm39) N435S probably damaging Het
Aip A T 19: 4,165,381 (GRCm39) V195E probably benign Het
Amer3 A T 1: 34,627,869 (GRCm39) I703F probably benign Het
Amfr T C 8: 94,738,637 (GRCm39) E7G probably benign Het
Angel1 A G 12: 86,773,158 (GRCm39) S4P probably damaging Het
Atp2c1 A G 9: 105,341,850 (GRCm39) I146T probably damaging Het
Atp6v0e A G 17: 26,914,390 (GRCm39) T72A probably benign Het
Bahcc1 T C 11: 120,163,472 (GRCm39) V590A possibly damaging Het
Bcl6 A G 16: 23,791,364 (GRCm39) V330A possibly damaging Het
Bcl6 T C 16: 23,791,652 (GRCm39) D234G probably damaging Het
Btaf1 C T 19: 36,926,502 (GRCm39) T58I probably damaging Het
Ccdc175 A T 12: 72,175,183 (GRCm39) probably null Het
Cdca4 C A 12: 112,785,189 (GRCm39) V180L probably benign Het
Ces1g C A 8: 94,043,665 (GRCm39) G425C possibly damaging Het
Chl1 T C 6: 103,683,409 (GRCm39) L745P probably damaging Het
Clec4g T A 8: 3,769,518 (GRCm39) T42S possibly damaging Het
Ctsg A C 14: 56,337,489 (GRCm39) I238S probably damaging Het
Cyb5rl A T 4: 106,944,513 (GRCm39) E41V unknown Het
Dcdc2a A G 13: 25,291,681 (GRCm39) E222G probably benign Het
Dnaaf1 G T 8: 120,323,538 (GRCm39) G509V possibly damaging Het
Dnah5 A G 15: 28,453,410 (GRCm39) I4394V probably benign Het
Dot1l T G 10: 80,626,560 (GRCm39) S1260R probably damaging Het
Dst T G 1: 34,208,341 (GRCm39) I1089S probably damaging Het
Efcab3 A T 11: 104,899,787 (GRCm39) I4350F possibly damaging Het
Eps8l3 A G 3: 107,791,801 (GRCm39) probably null Het
Fam135b A G 15: 71,493,917 (GRCm39) V4A possibly damaging Het
Fnip2 T C 3: 79,388,313 (GRCm39) E806G probably benign Het
Fryl T A 5: 73,231,251 (GRCm39) I1609F probably benign Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Gsn A T 2: 35,185,061 (GRCm39) K339* probably null Het
Hecw2 T A 1: 53,904,283 (GRCm39) Y1155F possibly damaging Het
Kif20b T A 19: 34,951,892 (GRCm39) N1723K probably damaging Het
Kif2b T C 11: 91,467,650 (GRCm39) D211G probably benign Het
Lhfpl4 C T 6: 113,153,632 (GRCm39) V140I probably benign Het
Med16 C T 10: 79,739,177 (GRCm39) G203D probably damaging Het
Mrgpra3 T A 7: 47,239,389 (GRCm39) Y179F probably benign Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Myo18b A G 5: 113,022,271 (GRCm39) S374P unknown Het
Myoz1 A G 14: 20,699,477 (GRCm39) I287T possibly damaging Het
Ncoa6 T C 2: 155,279,983 (GRCm39) D11G probably benign Het
Nlrp9c A G 7: 26,085,046 (GRCm39) Y178H probably damaging Het
Nmur1 T C 1: 86,315,230 (GRCm39) T212A probably damaging Het
Oacyl A G 18: 65,853,323 (GRCm39) D143G probably benign Het
Obox5 A G 7: 15,492,732 (GRCm39) Y229C probably damaging Het
Or10d1c A T 9: 38,893,914 (GRCm39) M142K probably benign Het
Or1j12 A G 2: 36,342,702 (GRCm39) Y35C probably damaging Het
Or1j18 G T 2: 36,624,436 (GRCm39) M34I probably benign Het
Or1x2 C A 11: 50,918,428 (GRCm39) L200I probably benign Het
Or8c13 A T 9: 38,091,632 (GRCm39) C162* probably null Het
Pcdhb17 A C 18: 37,619,566 (GRCm39) N452T probably benign Het
Pear1 T G 3: 87,658,752 (GRCm39) H901P probably benign Het
Peds1 C G 2: 167,503,398 (GRCm39) A7P probably benign Het
Pi16 A G 17: 29,545,313 (GRCm39) Y192C probably damaging Het
Pip5k1b T G 19: 24,335,424 (GRCm39) E362D probably damaging Het
Pla2g5 T C 4: 138,531,830 (GRCm39) D58G probably damaging Het
Pole T A 5: 110,472,968 (GRCm39) probably null Het
Prdm16 G T 4: 154,429,925 (GRCm39) T348K probably damaging Het
Prkdc T A 16: 15,507,207 (GRCm39) F896I probably damaging Het
Prmt7 T C 8: 106,961,732 (GRCm39) F215S unknown Het
Prss23 T A 7: 89,159,392 (GRCm39) T226S probably damaging Het
Ptpn14 G A 1: 189,595,595 (GRCm39) W739* probably null Het
Rfx5 G T 3: 94,863,850 (GRCm39) G135C probably damaging Het
Scmh1 A G 4: 120,382,252 (GRCm39) H573R probably benign Het
Serpina5 G T 12: 104,068,554 (GRCm39) probably null Het
Sh3rf2 G A 18: 42,237,227 (GRCm39) probably null Het
Slc38a2 T C 15: 96,591,182 (GRCm39) M229V probably damaging Het
Slc6a17 C G 3: 107,400,464 (GRCm39) G222R probably damaging Het
Sp110 C T 1: 85,507,406 (GRCm39) G367D possibly damaging Het
Srcap C A 7: 127,138,213 (GRCm39) L1128M probably damaging Het
Tpra1 T A 6: 88,885,276 (GRCm39) I76N probably damaging Het
Trav6-4 A T 14: 53,692,049 (GRCm39) Y52F probably benign Het
Trp63 C A 16: 25,639,227 (GRCm39) H138Q probably damaging Het
Trub2 A G 2: 29,669,838 (GRCm39) V177A possibly damaging Het
Ugt2a2 T C 5: 87,608,255 (GRCm39) D528G possibly damaging Het
Wnk2 C A 13: 49,256,314 (GRCm39) R269L possibly damaging Het
Other mutations in Zc3h12c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Zc3h12c APN 9 52,027,965 (GRCm39) missense probably damaging 1.00
IGL01288:Zc3h12c APN 9 52,028,951 (GRCm39) splice site probably benign
IGL01993:Zc3h12c APN 9 52,027,611 (GRCm39) missense probably damaging 1.00
R0035:Zc3h12c UTSW 9 52,055,047 (GRCm39) missense probably benign 0.04
R0035:Zc3h12c UTSW 9 52,055,047 (GRCm39) missense probably benign 0.04
R0131:Zc3h12c UTSW 9 52,037,923 (GRCm39) missense possibly damaging 0.87
R0240:Zc3h12c UTSW 9 52,055,383 (GRCm39) missense possibly damaging 0.77
R0240:Zc3h12c UTSW 9 52,055,383 (GRCm39) missense possibly damaging 0.77
R1762:Zc3h12c UTSW 9 52,027,081 (GRCm39) missense probably benign 0.17
R2101:Zc3h12c UTSW 9 52,027,721 (GRCm39) missense probably benign 0.01
R3052:Zc3h12c UTSW 9 52,055,356 (GRCm39) missense possibly damaging 0.94
R3689:Zc3h12c UTSW 9 52,027,256 (GRCm39) missense probably benign 0.00
R4163:Zc3h12c UTSW 9 52,026,999 (GRCm39) missense probably damaging 1.00
R4230:Zc3h12c UTSW 9 52,055,728 (GRCm39) critical splice acceptor site probably null
R4803:Zc3h12c UTSW 9 52,027,853 (GRCm39) missense probably damaging 1.00
R5008:Zc3h12c UTSW 9 52,028,000 (GRCm39) missense probably benign 0.00
R5153:Zc3h12c UTSW 9 52,037,947 (GRCm39) missense probably damaging 1.00
R5682:Zc3h12c UTSW 9 52,037,876 (GRCm39) missense probably damaging 1.00
R5843:Zc3h12c UTSW 9 52,027,982 (GRCm39) missense probably benign 0.01
R6613:Zc3h12c UTSW 9 52,027,412 (GRCm39) missense possibly damaging 0.65
R7460:Zc3h12c UTSW 9 52,055,402 (GRCm39) missense probably benign 0.13
R7867:Zc3h12c UTSW 9 52,055,248 (GRCm39) missense probably damaging 0.96
R8711:Zc3h12c UTSW 9 52,037,858 (GRCm39) splice site probably benign
R9170:Zc3h12c UTSW 9 52,027,419 (GRCm39) missense probably benign 0.00
R9345:Zc3h12c UTSW 9 52,028,010 (GRCm39) missense probably benign 0.02
R9748:Zc3h12c UTSW 9 52,055,231 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTGGCGAGAATAAGGCTTTC -3'
(R):5'- CTCCTACGTGGGGTACAATGAC -3'

Sequencing Primer
(F):5'- GCGAGAATAAGGCTTTCTTTGTC -3'
(R):5'- GGTACAATGACCGCTCCTATGTCAG -3'
Posted On 2019-05-15