Incidental Mutation 'R0576:Zbed6'
ID 56210
Institutional Source Beutler Lab
Gene Symbol Zbed6
Ensembl Gene ENSMUSG00000102049
Gene Name zinc finger, BED type containing 6
Synonyms Gm38394, similar to Zinc finger BED domain containing protein 4, MGR, Gm8466
MMRRC Submission 038766-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R0576 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 133547678-133589056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 133585576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 587 (F587S)
Ref Sequence ENSEMBL: ENSMUSP00000140892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027736] [ENSMUST00000179598] [ENSMUST00000186476] [ENSMUST00000190574] [ENSMUST00000191896] [ENSMUST00000195424] [ENSMUST00000195067] [ENSMUST00000194668] [ENSMUST00000193504]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000027736
SMART Domains Protein: ENSMUSP00000027736
Gene: ENSMUSG00000116275

DomainStartEndE-ValueType
ZnF_C3H1 3 28 4.26e-1 SMART
ZnF_C3H1 31 56 7.62e0 SMART
ZnF_C3H1 60 86 6.83e1 SMART
low complexity region 161 176 N/A INTRINSIC
low complexity region 218 241 N/A INTRINSIC
low complexity region 367 376 N/A INTRINSIC
low complexity region 625 647 N/A INTRINSIC
low complexity region 717 730 N/A INTRINSIC
low complexity region 770 788 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179598
AA Change: F587S

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000136026
Gene: ENSMUSG00000094410
AA Change: F587S

DomainStartEndE-ValueType
low complexity region 57 84 N/A INTRINSIC
ZnF_BED 130 183 1.42e-8 SMART
low complexity region 203 215 N/A INTRINSIC
ZnF_BED 265 318 5.37e-9 SMART
low complexity region 840 862 N/A INTRINSIC
Pfam:Dimer_Tnp_hAT 869 950 9.3e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186476
AA Change: F587S

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139417
Gene: ENSMUSG00000094410
AA Change: F587S

DomainStartEndE-ValueType
low complexity region 57 84 N/A INTRINSIC
ZnF_BED 130 183 1.42e-8 SMART
low complexity region 203 215 N/A INTRINSIC
ZnF_BED 265 318 5.37e-9 SMART
low complexity region 840 862 N/A INTRINSIC
Pfam:Dimer_Tnp_hAT 869 950 1.9e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190574
AA Change: F587S

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000140892
Gene: ENSMUSG00000102049
AA Change: F587S

DomainStartEndE-ValueType
low complexity region 57 84 N/A INTRINSIC
ZnF_BED 130 183 1.42e-8 SMART
low complexity region 203 215 N/A INTRINSIC
ZnF_BED 265 318 5.37e-9 SMART
low complexity region 840 862 N/A INTRINSIC
Pfam:Dimer_Tnp_hAT 869 950 1.9e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191705
Predicted Effect probably benign
Transcript: ENSMUST00000191896
SMART Domains Protein: ENSMUSP00000141255
Gene: ENSMUSG00000102976

DomainStartEndE-ValueType
ZnF_C3H1 3 28 4.26e-1 SMART
ZnF_C3H1 31 56 7.62e0 SMART
ZnF_C3H1 60 86 6.83e1 SMART
low complexity region 161 176 N/A INTRINSIC
low complexity region 218 241 N/A INTRINSIC
low complexity region 367 376 N/A INTRINSIC
low complexity region 625 647 N/A INTRINSIC
low complexity region 717 730 N/A INTRINSIC
low complexity region 770 788 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191932
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192775
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192107
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192148
Predicted Effect probably benign
Transcript: ENSMUST00000195424
SMART Domains Protein: ENSMUSP00000142066
Gene: ENSMUSG00000102976

DomainStartEndE-ValueType
ZnF_C3H1 3 28 1.8e-3 SMART
ZnF_C3H1 31 56 3.2e-2 SMART
ZnF_C3H1 60 86 2.9e-1 SMART
low complexity region 161 176 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195067
Predicted Effect probably benign
Transcript: ENSMUST00000194668
SMART Domains Protein: ENSMUSP00000141727
Gene: ENSMUSG00000102976

DomainStartEndE-ValueType
ZnF_C3H1 3 28 1.8e-3 SMART
ZnF_C3H1 31 56 3.2e-2 SMART
ZnF_C3H1 60 86 2.9e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193504
SMART Domains Protein: ENSMUSP00000141895
Gene: ENSMUSG00000102976

DomainStartEndE-ValueType
ZnF_C3H1 3 28 1.8e-3 SMART
ZnF_C3H1 31 56 3.2e-2 SMART
Blast:ZnF_C3H1 60 84 2e-11 BLAST
Meta Mutation Damage Score 0.2794 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.6%
  • 20x: 94.9%
Validation Efficiency 92% (47/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this transposon-derived intronless gene is a transcriptional repressor that binds to the consensus sequence 5'-GCTCGC-3'. The encoded protein has been shown to repress IGF2 transcription. This gene is located within the first intron of the ZC3H11A gene. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc77 T A 6: 120,308,809 (GRCm39) L335F probably benign Het
Ccr3 T A 9: 123,829,046 (GRCm39) F127Y probably damaging Het
Cfap43 T C 19: 47,785,579 (GRCm39) N437S probably benign Het
Cfh A G 1: 140,064,553 (GRCm39) V365A probably damaging Het
Copg1 T A 6: 87,874,945 (GRCm39) V380D probably damaging Het
Cxxc1 T C 18: 74,353,256 (GRCm39) I497T possibly damaging Het
Disp3 G A 4: 148,326,047 (GRCm39) T1237I possibly damaging Het
Dnaaf9 A T 2: 130,555,390 (GRCm39) F839L probably benign Het
Dnah7a A T 1: 53,675,246 (GRCm39) F360L probably benign Het
Dnhd1 C T 7: 105,363,252 (GRCm39) A3938V probably damaging Het
Eif4g1 A G 16: 20,502,818 (GRCm39) D1000G probably damaging Het
Emsy A T 7: 98,242,983 (GRCm39) V1052D probably damaging Het
Ep400 A G 5: 110,858,959 (GRCm39) probably benign Het
Fa2h T C 8: 112,082,779 (GRCm39) H146R probably damaging Het
Gad1 G A 2: 70,424,996 (GRCm39) C430Y probably benign Het
Gtse1 T C 15: 85,753,252 (GRCm39) S456P probably damaging Het
Gucy2g T C 19: 55,187,202 (GRCm39) T1073A probably damaging Het
Hectd2 T G 19: 36,562,897 (GRCm39) N3K probably benign Het
Hmcn1 A T 1: 150,525,768 (GRCm39) C3318* probably null Het
Lipo2 C T 19: 33,726,824 (GRCm39) S71N probably benign Het
Mynn G T 3: 30,661,217 (GRCm39) D100Y probably damaging Het
Myo16 G A 8: 10,612,318 (GRCm39) probably null Het
Npr2 G T 4: 43,640,947 (GRCm39) K384N probably benign Het
Nrde2 A G 12: 100,098,492 (GRCm39) V725A possibly damaging Het
Or11h23 T A 14: 50,948,661 (GRCm39) S291R probably damaging Het
Or2l13 A G 16: 19,305,938 (GRCm39) M117V probably damaging Het
Otud7a C T 7: 63,335,266 (GRCm39) P101S possibly damaging Het
Pcdhb7 T A 18: 37,475,410 (GRCm39) L182Q probably benign Het
Pdss1 A G 2: 22,805,425 (GRCm39) probably null Het
Ppargc1b T A 18: 61,444,512 (GRCm39) H233L probably damaging Het
Ppm1b A G 17: 85,320,987 (GRCm39) probably null Het
Prdm14 A T 1: 13,195,949 (GRCm39) S37R possibly damaging Het
Prss45 A G 9: 110,667,497 (GRCm39) T39A probably benign Het
Qars1 T C 9: 108,392,161 (GRCm39) probably benign Het
Rxfp2 T G 5: 149,961,712 (GRCm39) H77Q probably benign Het
Scd4 A G 19: 44,329,685 (GRCm39) M219V probably benign Het
Sec24b G T 3: 129,834,985 (GRCm39) P71Q probably benign Het
Snd1 T G 6: 28,886,576 (GRCm39) V861G probably benign Het
Sspo A G 6: 48,441,876 (GRCm39) probably null Het
Tas2r129 A G 6: 132,928,497 (GRCm39) T145A probably benign Het
Tbc1d31 T A 15: 57,833,120 (GRCm39) I953N possibly damaging Het
Tlr4 A G 4: 66,757,732 (GRCm39) N175S probably benign Het
Tspyl4 A G 10: 34,174,518 (GRCm39) N337D probably damaging Het
Ttn A T 2: 76,642,545 (GRCm39) L13330H probably damaging Het
Usp33 T A 3: 152,089,756 (GRCm39) Y765* probably null Het
Vmn2r59 T A 7: 41,696,529 (GRCm39) Y71F probably benign Het
Zfhx4 T C 3: 5,467,161 (GRCm39) S2465P probably damaging Het
Other mutations in Zbed6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Zbed6 APN 1 133,585,114 (GRCm39) missense probably damaging 1.00
IGL01720:Zbed6 APN 1 133,585,264 (GRCm39) missense possibly damaging 0.82
IGL02320:Zbed6 APN 1 133,585,411 (GRCm39) missense probably damaging 0.97
R0385:Zbed6 UTSW 1 133,584,522 (GRCm39) missense probably damaging 0.99
R0417:Zbed6 UTSW 1 133,586,276 (GRCm39) missense probably benign
R0526:Zbed6 UTSW 1 133,586,472 (GRCm39) missense probably damaging 0.99
R1164:Zbed6 UTSW 1 133,586,941 (GRCm39) missense probably damaging 1.00
R1187:Zbed6 UTSW 1 133,586,941 (GRCm39) missense probably damaging 1.00
R1415:Zbed6 UTSW 1 133,585,556 (GRCm39) missense possibly damaging 0.80
R1997:Zbed6 UTSW 1 133,584,451 (GRCm39) missense probably damaging 1.00
R2186:Zbed6 UTSW 1 133,585,817 (GRCm39) missense probably damaging 1.00
R2875:Zbed6 UTSW 1 133,584,598 (GRCm39) missense probably damaging 1.00
R2876:Zbed6 UTSW 1 133,584,598 (GRCm39) missense probably damaging 1.00
R2975:Zbed6 UTSW 1 133,585,975 (GRCm39) missense probably damaging 0.99
R4573:Zbed6 UTSW 1 133,587,127 (GRCm39) missense probably benign 0.00
R4631:Zbed6 UTSW 1 133,586,482 (GRCm39) missense probably damaging 1.00
R4671:Zbed6 UTSW 1 133,584,778 (GRCm39) missense probably benign
R4976:Zbed6 UTSW 1 133,585,832 (GRCm39) missense probably benign 0.27
R5048:Zbed6 UTSW 1 133,586,462 (GRCm39) missense probably damaging 0.99
R5318:Zbed6 UTSW 1 133,585,853 (GRCm39) missense possibly damaging 0.86
R5400:Zbed6 UTSW 1 133,585,879 (GRCm39) missense probably damaging 1.00
R5427:Zbed6 UTSW 1 133,585,333 (GRCm39) missense possibly damaging 0.83
R6530:Zbed6 UTSW 1 133,586,939 (GRCm39) missense probably damaging 1.00
R7511:Zbed6 UTSW 1 133,586,981 (GRCm39) missense probably benign 0.30
R8215:Zbed6 UTSW 1 133,586,530 (GRCm39) missense probably damaging 1.00
R8529:Zbed6 UTSW 1 133,584,706 (GRCm39) missense probably benign 0.00
R8685:Zbed6 UTSW 1 133,584,754 (GRCm39) nonsense probably null
R9414:Zbed6 UTSW 1 133,585,015 (GRCm39) missense probably damaging 1.00
R9429:Zbed6 UTSW 1 133,585,453 (GRCm39) missense probably damaging 0.99
Z1177:Zbed6 UTSW 1 133,586,854 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTAAGTACAACTCCACTGGCTCTGC -3'
(R):5'- TGGACTCATGACCCTTCCACTGAC -3'

Sequencing Primer
(F):5'- TGGCTCTGCCCAGACTATG -3'
(R):5'- ACACTGGGTCTCTTTGGAAAC -3'
Posted On 2013-07-11