Incidental Mutation 'IGL02440:Zfp691'
ID 293425
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp691
Ensembl Gene ENSMUSG00000045268
Gene Name zinc finger protein 691
Synonyms 6430544H17Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.281) question?
Stock # IGL02440
Quality Score
Status
Chromosome 4
Chromosomal Location 119026710-119031392 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 119027493 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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: 67,824,777 (GRCm39) probably benign Het
Bmt2 C T 6: 13,628,609 (GRCm39) R358Q probably damaging Het
C2cd6 A G 1: 59,114,259 (GRCm39) I182T probably benign Het
Calr3 T C 8: 73,185,276 (GRCm39) T100A probably benign Het
Cln3 T C 7: 126,181,954 (GRCm39) K36R probably benign Het
Ddx25 C T 9: 35,468,974 (GRCm39) probably benign Het
Dmxl2 A T 9: 54,313,899 (GRCm39) V1677E probably damaging Het
Dnah10 A G 5: 124,850,883 (GRCm39) E1684G probably damaging Het
Dnah9 A G 11: 65,846,072 (GRCm39) S2989P probably damaging Het
F5 A T 1: 164,034,635 (GRCm39) T1845S possibly damaging Het
Folh1 G T 7: 86,383,312 (GRCm39) N478K probably benign Het
Gpr22 T C 12: 31,759,139 (GRCm39) I328V probably damaging Het
Itln1 C T 1: 171,359,097 (GRCm39) A128T probably benign Het
Itprid1 A G 6: 55,861,713 (GRCm39) T97A possibly damaging Het
Kank1 A G 19: 25,410,272 (GRCm39) K1322R probably damaging Het
Klhdc2 A G 12: 69,350,414 (GRCm39) Y153C probably damaging Het
Lonp2 T A 8: 87,350,813 (GRCm39) M1K probably null Het
Mtor T A 4: 148,630,886 (GRCm39) M2281K probably benign Het
Mtor T A 4: 148,576,104 (GRCm39) N1378K probably benign Het
Myo1e G A 9: 70,254,022 (GRCm39) R557H probably damaging Het
Nedd4l T C 18: 65,296,244 (GRCm39) probably null Het
Or2r3 T C 6: 42,449,100 (GRCm39) D4G probably benign Het
Or2t46 A T 11: 58,472,035 (GRCm39) M122L probably damaging Het
Or2z9 T A 8: 72,854,374 (GRCm39) F257I probably damaging Het
Or9i16 A T 19: 13,865,223 (GRCm39) M117K probably damaging Het
Pcdh18 T C 3: 49,699,052 (GRCm39) probably benign Het
Phldb1 T C 9: 44,626,700 (GRCm39) T582A probably damaging Het
Plxna2 A T 1: 194,428,458 (GRCm39) E509D probably benign Het
Poln A T 5: 34,286,474 (GRCm39) D231E probably damaging Het
Prex2 G A 1: 11,223,881 (GRCm39) R735Q possibly damaging Het
Prpf40b T C 15: 99,204,747 (GRCm39) S263P probably damaging Het
Sfmbt2 C T 2: 10,573,194 (GRCm39) A574V probably damaging Het
Slc12a3 T C 8: 95,058,310 (GRCm39) I152T probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Svep1 T C 4: 58,145,293 (GRCm39) I391V probably benign Het
Tbx4 A G 11: 85,781,720 (GRCm39) E80G probably damaging Het
Vmn2r22 A G 6: 123,614,364 (GRCm39) Y409H probably benign Het
Zfp846 T C 9: 20,499,796 (GRCm39) probably benign Het
Other mutations in Zfp691
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02658:Zfp691 APN 4 119,027,704 (GRCm39) missense probably damaging 1.00
IGL02850:Zfp691 APN 4 119,027,389 (GRCm39) missense probably damaging 0.96
R0417:Zfp691 UTSW 4 119,027,693 (GRCm39) missense possibly damaging 0.67
R4822:Zfp691 UTSW 4 119,027,764 (GRCm39) missense probably damaging 1.00
R4923:Zfp691 UTSW 4 119,027,999 (GRCm39) missense probably benign
R7619:Zfp691 UTSW 4 119,028,181 (GRCm39) missense probably damaging 0.98
R8738:Zfp691 UTSW 4 119,027,861 (GRCm39) missense probably damaging 1.00
R8841:Zfp691 UTSW 4 119,027,861 (GRCm39) missense probably damaging 0.99
R9574:Zfp691 UTSW 4 119,028,230 (GRCm39) start codon destroyed possibly damaging 0.85
RF007:Zfp691 UTSW 4 119,027,932 (GRCm39) missense probably benign 0.08
Posted On 2015-04-16