Incidental Mutation 'IGL01013:Zc3h12d'
ID53807
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: 0.101) question?
Stock #IGL01013
Quality Score
Status
Chromosome10
Chromosomal Location7832470-7870396 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 7839956 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 41 (I41T)
Ref Sequence ENSEMBL: ENSMUSP00000040217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039484]
Predicted Effect probably damaging
Transcript: ENSMUST00000039484
AA Change: I41T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040217
Gene: ENSMUSG00000039981
AA Change: I41T

DomainStartEndE-ValueType
Pfam:RNase_Zc3h12a 91 247 4e-67 PFAM
low complexity region 333 345 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175319
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T A 5: 76,886,206 E499D possibly damaging Het
Abca1 A T 4: 53,038,185 L2059* probably null Het
Ankar T A 1: 72,650,989 I1228F possibly damaging Het
Appl1 A T 14: 26,949,476 Y340N possibly damaging Het
Atp8b4 C A 2: 126,323,087 R1103L probably benign Het
B4galt6 A G 18: 20,689,013 V308A probably damaging Het
Ccdc162 G A 10: 41,581,339 P1534L probably benign Het
Ccdc78 A G 17: 25,789,054 E313G possibly damaging Het
Cep57l1 G A 10: 41,740,869 R141* probably null Het
Cpsf1 G A 15: 76,599,297 Q883* probably null Het
Crot A G 5: 8,993,575 Y16H probably benign Het
Cyld T G 8: 88,742,362 L587R probably damaging Het
Fam114a1 G A 5: 65,031,395 probably null Het
Fam89b G T 19: 5,729,369 D53E probably benign Het
Fig4 T C 10: 41,267,786 M226V probably benign Het
Gm10722 A T 9: 3,002,230 Y184F probably damaging Het
Hp C A 8: 109,579,021 probably benign Het
Igsf9b G T 9: 27,334,304 R1189L probably damaging Het
Ilf3 A G 9: 21,399,691 N620D possibly damaging Het
Jakmip3 A C 7: 139,017,573 E228A possibly damaging Het
Kpna3 A T 14: 61,370,517 I413K probably damaging Het
Letm1 A T 5: 33,762,590 C202S possibly damaging Het
Lmod2 C A 6: 24,604,135 Q370K probably damaging Het
Map4k5 T C 12: 69,827,526 probably benign Het
Mcidas T A 13: 112,997,585 probably benign Het
Mme A G 3: 63,327,860 probably null Het
Mrc1 T C 2: 14,328,425 W1306R probably damaging Het
Mthfd1l C A 10: 4,030,716 Q473K probably damaging Het
Muc6 A T 7: 141,648,066 C719* probably null Het
Nsun7 T C 5: 66,283,601 I355T possibly damaging Het
Padi6 A G 4: 140,729,003 L560P probably damaging Het
Parl C A 16: 20,282,790 A285S possibly damaging Het
Pclo A T 5: 14,793,834 M4795L unknown Het
Polr2f A G 15: 79,146,129 Y56C probably damaging Het
Rasgrp2 A T 19: 6,404,383 H152L probably damaging Het
Rpl10l T C 12: 66,284,227 D44G probably benign Het
Slc25a16 A G 10: 62,944,433 probably null Het
Snrnp200 G A 2: 127,232,472 E1411K probably damaging Het
Tanc2 G A 11: 105,625,065 R3Q probably damaging Het
Tbc1d32 G T 10: 56,201,959 probably null Het
Tcf7l2 T C 19: 55,919,627 probably benign Het
Tnrc6c G T 11: 117,722,029 V498L probably benign Het
Tymp G A 15: 89,376,310 H102Y probably damaging Het
Wdr76 T C 2: 121,535,497 S492P probably benign Het
Other mutations in Zc3h12d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Zc3h12d APN 10 7862467 missense probably damaging 1.00
IGL02090:Zc3h12d APN 10 7867332 missense probably benign 0.00
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
Posted On2013-06-28