Incidental Mutation 'IGL02876:Zc3h12d'
ID406244
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zc3h12d
Ensembl Gene ENSMUSG00000039981
Gene Namezinc finger CCCH type containing 12D
SynonymsD730019B10Rik, TFL
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #IGL02876
Quality Score
Status
Chromosome10
Chromosomal Location7832470-7870396 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 7862600 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 223 (M223I)
Ref Sequence ENSEMBL: ENSMUSP00000040217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039484]
Predicted Effect probably damaging
Transcript: ENSMUST00000039484
AA Change: M223I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040217
Gene: ENSMUSG00000039981
AA Change: M223I

DomainStartEndE-ValueType
Pfam:RNase_Zc3h12a 91 247 4e-67 PFAM
low complexity region 333 345 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,919,841 V564A probably damaging Het
Adamts15 A T 9: 30,904,522 N679K probably damaging Het
Angpt1 T G 15: 42,426,977 D497A possibly damaging Het
Asap2 A G 12: 21,258,163 K849R probably benign Het
Aspm T C 1: 139,473,653 V1137A probably damaging Het
Atp12a A G 14: 56,373,289 I297V probably benign Het
Atp2a2 A G 5: 122,466,008 V454A probably benign Het
Carmil1 T A 13: 24,154,668 probably benign Het
Csmd2 A T 4: 128,321,335 K517* probably null Het
Csmd3 A T 15: 47,606,096 probably benign Het
Cyp2d11 T A 15: 82,389,496 Q427L possibly damaging Het
Eml5 C T 12: 98,858,841 V706M probably damaging Het
Entpd8 A C 2: 25,085,060 S428R probably benign Het
Gm10283 T C 8: 60,501,219 probably benign Het
Gm13124 A G 4: 144,555,773 Y150H probably damaging Het
Gpatch3 T A 4: 133,580,684 V363E probably damaging Het
Hoxb5 T A 11: 96,303,768 M52K probably damaging Het
Ift52 T C 2: 163,036,707 V307A probably benign Het
Igkv1-115 T C 6: 68,161,440 noncoding transcript Het
Kdm5a T C 6: 120,390,644 probably benign Het
Lama1 T A 17: 67,750,692 probably null Het
Lrp6 G A 6: 134,456,114 P1418L probably benign Het
Mill2 T C 7: 18,856,507 F156L probably damaging Het
Mnat1 A G 12: 73,170,604 R85G probably damaging Het
Myrip A T 9: 120,432,674 D451V probably damaging Het
Olfr397 A T 11: 73,964,713 Y35F possibly damaging Het
Pdzph1 C A 17: 58,974,069 S406I probably benign Het
Ptprb A G 10: 116,348,211 probably benign Het
Rxfp4 T A 3: 88,652,435 R236S possibly damaging Het
Ryr2 T C 13: 11,707,793 M2604V probably benign Het
Setd1a G A 7: 127,778,501 probably benign Het
Spata33 A T 8: 123,221,980 H88L probably damaging Het
Spcs3 A T 8: 54,526,451 N98K probably damaging Het
Srgap3 A G 6: 112,771,453 S413P probably damaging Het
Stap2 T C 17: 55,999,961 R239G probably benign Het
Surf6 A G 2: 26,892,626 Y230H probably damaging Het
Tasp1 C T 2: 139,834,363 V382M probably benign Het
Tnc G T 4: 64,015,101 A642E possibly damaging Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Vmn2r110 T A 17: 20,574,296 T704S probably damaging Het
Vtcn1 A T 3: 100,883,829 D61V probably damaging Het
Zfp592 T A 7: 81,038,127 S934T probably benign Het
Other mutations in Zc3h12d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Zc3h12d APN 10 7862467 missense probably damaging 1.00
IGL01013:Zc3h12d APN 10 7839956 missense probably damaging 1.00
IGL02090:Zc3h12d APN 10 7867332 missense probably benign 0.00
R0040:Zc3h12d UTSW 10 7867914 missense probably benign 0.02
R0040:Zc3h12d UTSW 10 7867914 missense probably benign 0.02
R0242:Zc3h12d UTSW 10 7862566 missense probably damaging 1.00
R0242:Zc3h12d UTSW 10 7862566 missense probably damaging 1.00
R1942:Zc3h12d UTSW 10 7853313 missense probably damaging 1.00
R2290:Zc3h12d UTSW 10 7867459 missense probably benign 0.00
R2354:Zc3h12d UTSW 10 7867938 missense probably benign 0.00
R4816:Zc3h12d UTSW 10 7867947 missense probably damaging 1.00
R4932:Zc3h12d UTSW 10 7853250 missense probably damaging 0.99
R5191:Zc3h12d UTSW 10 7867818 missense possibly damaging 0.51
R5384:Zc3h12d UTSW 10 7853250 missense probably damaging 1.00
R5396:Zc3h12d UTSW 10 7866326 missense probably damaging 1.00
R6409:Zc3h12d UTSW 10 7867318 missense probably benign 0.04
R6877:Zc3h12d UTSW 10 7839971 missense probably damaging 0.99
R6903:Zc3h12d UTSW 10 7867661 missense probably benign
R6967:Zc3h12d UTSW 10 7839880 missense probably damaging 1.00
R7312:Zc3h12d UTSW 10 7867581 missense probably benign 0.00
R7594:Zc3h12d UTSW 10 7862618 missense probably damaging 1.00
R7622:Zc3h12d UTSW 10 7867269 missense probably damaging 1.00
R7645:Zc3h12d UTSW 10 7867576 missense probably benign
R7769:Zc3h12d UTSW 10 7867626 missense probably benign 0.03
R7864:Zc3h12d UTSW 10 7839959 missense possibly damaging 0.83
R7947:Zc3h12d UTSW 10 7839959 missense possibly damaging 0.83
Z1177:Zc3h12d UTSW 10 7867808 missense not run
Posted On2016-08-02