Incidental Mutation 'IGL02090:Zc3h12d'
ID279425
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 #IGL02090
Quality Score
Status
Chromosome10
Chromosomal Location7832470-7870396 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 7867332 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 289 (S289A)
Ref Sequence ENSEMBL: ENSMUSP00000040217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039484]
Predicted Effect probably benign
Transcript: ENSMUST00000039484
AA Change: S289A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000040217
Gene: ENSMUSG00000039981
AA Change: S289A

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace2 A G X: 164,185,705 T482A probably damaging Het
Adh1 T C 3: 138,282,785 I173T possibly damaging Het
Apoa1 T C 9: 46,229,250 S60P possibly damaging Het
Blnk A G 19: 40,934,485 V396A probably benign Het
Borcs8 A G 8: 70,166,380 D204G probably damaging Het
Cbfa2t2 A G 2: 154,531,416 probably benign Het
Cdkal1 T G 13: 29,517,510 I319L probably benign Het
Celsr1 T A 15: 85,907,721 T2560S possibly damaging Het
Chd8 A G 14: 52,227,234 probably null Het
Cyp4f39 T C 17: 32,470,958 probably benign Het
Dnah10 A G 5: 124,789,812 N2265S probably damaging Het
Dnah5 C T 15: 28,240,041 probably benign Het
Epgn G A 5: 91,033,957 G133E probably damaging Het
Fam26e G A 10: 34,096,265 P58L probably damaging Het
Fdx1l C A 9: 21,073,470 V13F probably benign Het
Gabarapl2 A G 8: 111,941,199 Y25C probably damaging Het
Gigyf1 G A 5: 137,525,564 probably null Het
Gm6040 G A 8: 20,917,153 probably benign Het
Gm8229 T C 14: 44,366,597 L81P unknown Het
Gstz1 A G 12: 87,163,754 E137G probably benign Het
Htra1 T C 7: 130,936,378 V36A probably benign Het
Ifnlr1 T C 4: 135,705,267 V338A probably benign Het
Igsf8 A G 1: 172,312,589 probably benign Het
Khdc1a T A 1: 21,350,988 F132L probably benign Het
Kifc3 G A 8: 95,102,480 S561L probably damaging Het
Mpi T C 9: 57,550,653 T89A probably benign Het
Ncor2 A T 5: 125,034,403 M1281K probably damaging Het
Olfr1222 T C 2: 89,125,677 N18S probably benign Het
Olfr1299 G T 2: 111,664,988 C254F probably damaging Het
Olfr792 T C 10: 129,541,307 Y257H probably damaging Het
Olfr806 T A 10: 129,738,312 I202L probably benign Het
Otog G A 7: 46,300,147 G2403D probably damaging Het
Pdgfb C A 15: 80,013,983 A6S probably benign Het
Pfkm T C 15: 98,123,240 probably null Het
Plcb4 A G 2: 135,947,121 M274V probably benign Het
Ppm1m A G 9: 106,196,802 probably null Het
Rptn A G 3: 93,396,734 D458G possibly damaging Het
Sertad3 C T 7: 27,476,525 S128F probably benign Het
Sgo2b A T 8: 63,927,089 L903Q probably damaging Het
Slc15a5 C T 6: 138,043,600 R245H probably benign Het
Slc24a5 A T 2: 125,068,298 T40S probably benign Het
Smchd1 T C 17: 71,431,253 N539S possibly damaging Het
Tlr11 A G 14: 50,363,032 D825G probably damaging Het
Top3b T G 16: 16,891,470 V674G possibly damaging Het
Urb2 G A 8: 124,028,237 V228I probably benign Het
Usp24 C T 4: 106,411,426 A2061V possibly damaging Het
Wdr72 C A 9: 74,154,930 H453N possibly damaging Het
Xkr9 T C 1: 13,701,376 M372T probably damaging Het
Zfp607b A T 7: 27,698,715 M75L possibly damaging 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
IGL02876:Zc3h12d APN 10 7862600 missense probably damaging 0.99
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 On2015-04-16