Incidental Mutation 'IGL02440:Zfp691'
ID293425
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp691
Ensembl Gene ENSMUSG00000045268
Gene Namezinc finger protein 691
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.353) question?
Stock #IGL02440
Quality Score
Status
Chromosome4
Chromosomal Location119169513-119174195 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 119170296 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 246 (R246S)
Ref Sequence ENSEMBL: ENSMUSP00000136119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052715] [ENSMUST00000106355] [ENSMUST00000154226] [ENSMUST00000179290]
Predicted Effect probably damaging
Transcript: ENSMUST00000052715
AA Change: R246S

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000053013
Gene: ENSMUSG00000045268
AA Change: R246S

DomainStartEndE-ValueType
ZnF_C2H2 83 105 4.54e-4 SMART
ZnF_C2H2 111 133 5.99e-4 SMART
ZnF_C2H2 139 161 3.89e-3 SMART
ZnF_C2H2 167 189 3.95e-4 SMART
ZnF_C2H2 195 217 4.72e-2 SMART
ZnF_C2H2 223 245 2.4e-3 SMART
ZnF_C2H2 251 273 1.6e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106355
AA Change: R246S

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101962
Gene: ENSMUSG00000045268
AA Change: R246S

DomainStartEndE-ValueType
ZnF_C2H2 83 105 4.54e-4 SMART
ZnF_C2H2 111 133 5.99e-4 SMART
ZnF_C2H2 139 161 3.89e-3 SMART
ZnF_C2H2 167 189 3.95e-4 SMART
ZnF_C2H2 195 217 4.72e-2 SMART
ZnF_C2H2 223 245 2.4e-3 SMART
ZnF_C2H2 251 273 1.6e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154226
Predicted Effect probably damaging
Transcript: ENSMUST00000179290
AA Change: R246S

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000136119
Gene: ENSMUSG00000045268
AA Change: R246S

DomainStartEndE-ValueType
ZnF_C2H2 83 105 4.54e-4 SMART
ZnF_C2H2 111 133 5.99e-4 SMART
ZnF_C2H2 139 161 3.89e-3 SMART
ZnF_C2H2 167 189 3.95e-4 SMART
ZnF_C2H2 195 217 4.72e-2 SMART
ZnF_C2H2 223 245 2.4e-3 SMART
ZnF_C2H2 251 273 1.6e-4 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a1 A G 5: 67,667,434 probably benign Het
Bmt2 C T 6: 13,628,610 R358Q probably damaging Het
C2cd6 A G 1: 59,075,100 I182T probably benign Het
Calr3 T C 8: 72,431,432 T100A probably benign Het
Ccdc129 A G 6: 55,884,728 T97A possibly damaging Het
Cln3 T C 7: 126,582,782 K36R probably benign Het
Ddx25 C T 9: 35,557,678 probably benign Het
Dmxl2 A T 9: 54,406,615 V1677E probably damaging Het
Dnah10 A G 5: 124,773,819 E1684G probably damaging Het
Dnah9 A G 11: 65,955,246 S2989P probably damaging Het
F5 A T 1: 164,207,066 T1845S possibly damaging Het
Folh1 G T 7: 86,734,104 N478K probably benign Het
Gpr22 T C 12: 31,709,140 I328V probably damaging Het
Itln1 C T 1: 171,531,529 A128T probably benign Het
Kank1 A G 19: 25,432,908 K1322R probably damaging Het
Klhdc2 A G 12: 69,303,640 Y153C probably damaging Het
Lonp2 T A 8: 86,624,185 M1K probably null Het
Mtor T A 4: 148,546,429 M2281K probably benign Het
Mtor T A 4: 148,491,647 N1378K probably benign Het
Myo1e G A 9: 70,346,740 R557H probably damaging Het
Nedd4l T C 18: 65,163,173 probably null Het
Olfr1504 A T 19: 13,887,859 M117K probably damaging Het
Olfr325 A T 11: 58,581,209 M122L probably damaging Het
Olfr373 T A 8: 72,100,530 F257I probably damaging Het
Olfr457 T C 6: 42,472,166 D4G probably benign Het
Pcdh18 T C 3: 49,744,603 probably benign Het
Phldb1 T C 9: 44,715,403 T582A probably damaging Het
Plxna2 A T 1: 194,746,150 E509D probably benign Het
Poln A T 5: 34,129,130 D231E probably damaging Het
Prex2 G A 1: 11,153,657 R735Q possibly damaging Het
Prpf40b T C 15: 99,306,866 S263P probably damaging Het
Sfmbt2 C T 2: 10,568,383 A574V probably damaging Het
Slc12a3 T C 8: 94,331,682 I152T probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Svep1 T C 4: 58,145,293 I391V probably benign Het
Tbx4 A G 11: 85,890,894 E80G probably damaging Het
Vmn2r22 A G 6: 123,637,405 Y409H probably benign Het
Zfp846 T C 9: 20,588,500 probably benign Het
Other mutations in Zfp691
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02658:Zfp691 APN 4 119170507 missense probably damaging 1.00
IGL02850:Zfp691 APN 4 119170192 missense probably damaging 0.96
R0417:Zfp691 UTSW 4 119170496 missense possibly damaging 0.67
R4822:Zfp691 UTSW 4 119170567 missense probably damaging 1.00
R4923:Zfp691 UTSW 4 119170802 missense probably benign
R7619:Zfp691 UTSW 4 119170984 missense probably damaging 0.98
RF007:Zfp691 UTSW 4 119170735 missense probably benign 0.08
Posted On2015-04-16