Incidental Mutation 'IGL00848:Zfp704'
ID14993
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp704
Ensembl Gene ENSMUSG00000040209
Gene Namezinc finger protein 704
SynonymsGig1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00848
Quality Score
Status
Chromosome3
Chromosomal Location9427020-9610085 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 9565239 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 21 (S21T)
Ref Sequence ENSEMBL: ENSMUSP00000141598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041124] [ENSMUST00000193947]
Predicted Effect probably benign
Transcript: ENSMUST00000041124
AA Change: S171T

PolyPhen 2 Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000041242
Gene: ENSMUSG00000040209
AA Change: S171T

DomainStartEndE-ValueType
low complexity region 12 94 N/A INTRINSIC
low complexity region 98 129 N/A INTRINSIC
low complexity region 267 290 N/A INTRINSIC
ZnF_C2H2 346 371 3.58e-2 SMART
c-clamp 536 566 1.55e-13 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000193947
AA Change: S21T

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141598
Gene: ENSMUSG00000040209
AA Change: S21T

DomainStartEndE-ValueType
low complexity region 117 140 N/A INTRINSIC
ZnF_C2H2 196 221 1.6e-4 SMART
c-clamp 475 505 7.4e-18 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a reporter (null) allele are viable and fertile with no obvious developmental defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A G 7: 131,246,724 E869G probably damaging Het
A930011G23Rik A G 5: 99,222,378 F508L probably damaging Het
Adgra3 C T 5: 50,001,949 G320R probably damaging Het
Arhgef40 G A 14: 51,987,427 V10M probably damaging Het
Birc6 C T 17: 74,696,393 Q4739* probably null Het
Cdh20 C T 1: 104,934,256 H54Y probably benign Het
Cep112 A G 11: 108,472,060 D202G probably damaging Het
Cfhr2 T A 1: 139,831,232 T27S probably benign Het
Copa T A 1: 172,110,688 C523S possibly damaging Het
Copz1 T A 15: 103,298,749 probably benign Het
Crybg1 A C 10: 43,967,818 probably null Het
Cyp3a11 A T 5: 145,862,465 I304N probably damaging Het
Eif2d C T 1: 131,164,436 Q315* probably null Het
Fgfr4 A G 13: 55,159,170 E224G probably damaging Het
Fndc3b A T 3: 27,451,509 L870Q probably damaging Het
Glt8d2 C T 10: 82,662,165 probably null Het
Gpat3 A T 5: 100,893,144 M357L probably benign Het
Hrnr A T 3: 93,322,897 K147N unknown Het
Kbtbd3 T A 9: 4,331,184 S519R probably damaging Het
Kcnv1 A G 15: 45,113,228 I221T probably benign Het
Khdrbs2 C T 1: 32,472,752 A266V probably benign Het
Lmtk2 A G 5: 144,176,398 E1312G probably benign Het
Mb21d1 G A 9: 78,435,488 P344L probably damaging Het
Mos T C 4: 3,871,459 N119S probably damaging Het
Mtpap C T 18: 4,380,717 H132Y probably benign Het
Myo18b G A 5: 112,871,485 T642I probably damaging Het
Myo5c A G 9: 75,289,181 E1303G probably benign Het
Napepld A T 5: 21,683,193 M86K probably benign Het
Nvl T A 1: 181,105,125 D709V probably damaging Het
Pak1ip1 A T 13: 41,012,623 E341D probably benign Het
Pgghg G A 7: 140,942,404 G32D probably damaging Het
Phlpp1 G A 1: 106,376,255 R1096H probably damaging Het
Phlpp1 C T 1: 106,339,448 T697M probably damaging Het
Piwil4 T G 9: 14,727,411 T273P probably damaging Het
Pkd2l1 A T 19: 44,192,279 probably benign Het
Polr3b A G 10: 84,680,377 D623G probably damaging Het
Pop1 A G 15: 34,508,729 T317A probably benign Het
Prune2 A T 19: 17,119,118 K662I probably damaging Het
Ptger4 T C 15: 5,235,108 I356V probably benign Het
Rhbdd1 T C 1: 82,340,444 L16P possibly damaging Het
Rps11 C T 7: 45,123,501 R22Q probably benign Het
Sfxn2 A T 19: 46,590,157 I204F probably damaging Het
Slc26a9 C T 1: 131,757,528 S365F probably damaging Het
Slc47a2 C T 11: 61,302,233 V565M probably benign Het
Spns1 T C 7: 126,371,242 probably null Het
Stk3 T A 15: 35,114,622 E48V possibly damaging Het
Svs3b T C 2: 164,256,101 E100G probably damaging Het
Tjp1 T C 7: 65,303,194 Q1464R probably benign Het
Tspan10 T C 11: 120,444,270 S69P probably benign Het
Usp32 T C 11: 85,051,181 probably benign Het
Vps45 G T 3: 96,056,973 probably benign Het
Zfp106 A T 2: 120,512,727 N1790K probably damaging Het
Other mutations in Zfp704
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03288:Zfp704 APN 3 9439891 splice site probably benign
R0265:Zfp704 UTSW 3 9565157 missense probably damaging 1.00
R0524:Zfp704 UTSW 3 9609364 missense unknown
R1466:Zfp704 UTSW 3 9447348 missense possibly damaging 0.94
R1466:Zfp704 UTSW 3 9447348 missense possibly damaging 0.94
R1647:Zfp704 UTSW 3 9471039 missense probably damaging 1.00
R1648:Zfp704 UTSW 3 9471039 missense probably damaging 1.00
R1865:Zfp704 UTSW 3 9474491 splice site probably benign
R1912:Zfp704 UTSW 3 9609358 missense unknown
R2109:Zfp704 UTSW 3 9474525 missense probably damaging 1.00
R2566:Zfp704 UTSW 3 9609493 missense unknown
R3551:Zfp704 UTSW 3 9474525 missense probably damaging 1.00
R4495:Zfp704 UTSW 3 9471077 missense probably benign 0.01
R6165:Zfp704 UTSW 3 9443886 missense probably benign 0.00
R6682:Zfp704 UTSW 3 9565193 missense probably benign 0.11
R7057:Zfp704 UTSW 3 9470917 missense probably damaging 1.00
R7348:Zfp704 UTSW 3 9474598 missense probably damaging 1.00
Posted On2012-12-06