Incidental Mutation 'R0526:Zbed6'
ID 48889
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 038719-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R0526 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 133547678-133589056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133586472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 288 (I288M)
Ref Sequence ENSEMBL: ENSMUSP00000140892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027736] [ENSMUST00000179598] [ENSMUST00000186476] [ENSMUST00000190574] [ENSMUST00000191896] [ENSMUST00000194668] [ENSMUST00000195424] [ENSMUST00000195067] [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 damaging
Transcript: ENSMUST00000179598
AA Change: I288M

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136026
Gene: ENSMUSG00000094410
AA Change: I288M

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 damaging
Transcript: ENSMUST00000186476
AA Change: I288M

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139417
Gene: ENSMUSG00000094410
AA Change: I288M

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 damaging
Transcript: ENSMUST00000190574
AA Change: I288M

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140892
Gene: ENSMUSG00000102049
AA Change: I288M

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: ENSMUST00000192107
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191932
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192148
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192775
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: 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: 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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.0%
Validation Efficiency
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik A T 4: 137,182,535 (GRCm39) N230I possibly damaging Het
4933427D14Rik G T 11: 72,060,609 (GRCm39) Q687K probably damaging Het
Actrt2 A G 4: 154,751,869 (GRCm39) L89P probably damaging Het
Adamts1 A C 16: 85,599,260 (GRCm39) S113R probably benign Het
Agxt2 G T 15: 10,373,948 (GRCm39) C118F probably damaging Het
Akap8 G A 17: 32,536,266 (GRCm39) T49I probably benign Het
Alk A T 17: 72,176,748 (GRCm39) W1519R probably damaging Het
Atf7ip T A 6: 136,536,803 (GRCm39) F12Y probably damaging Het
Atp13a5 A G 16: 29,167,558 (GRCm39) C131R probably damaging Het
Atp8b4 A G 2: 126,269,283 (GRCm39) L168P probably damaging Het
Blm G T 7: 80,155,641 (GRCm39) S346* probably null Het
Ccnt2 T G 1: 127,727,182 (GRCm39) C199G probably damaging Het
Cd151 A T 7: 141,050,504 (GRCm39) H219L probably damaging Het
Cd200r2 A T 16: 44,735,410 (GRCm39) R248S probably damaging Het
Cdh3 A G 8: 107,282,078 (GRCm39) D822G possibly damaging Het
Clec4b1 T C 6: 123,046,729 (GRCm39) probably null Het
Cluh C A 11: 74,556,812 (GRCm39) L951I probably benign Het
Cog7 A T 7: 121,562,494 (GRCm39) probably null Het
Col25a1 C A 3: 130,270,043 (GRCm39) P197Q probably damaging Het
Csde1 T A 3: 102,963,742 (GRCm39) S636R possibly damaging Het
Ect2l C A 10: 18,075,688 (GRCm39) C66F possibly damaging Het
Elac2 T C 11: 64,890,262 (GRCm39) M671T probably benign Het
Evi5 T C 5: 107,969,614 (GRCm39) N143S probably benign Het
Ext2 A G 2: 93,636,430 (GRCm39) V228A probably damaging Het
Fbxo38 A G 18: 62,639,051 (GRCm39) Y1084H probably damaging Het
Fcgr4 T A 1: 170,856,760 (GRCm39) L209Q probably damaging Het
Fgd3 C T 13: 49,450,000 (GRCm39) S83N probably benign Het
Gigyf2 T A 1: 87,349,215 (GRCm39) M664K probably benign Het
Il27ra A T 8: 84,766,128 (GRCm39) S219T probably benign Het
Itprid2 A G 2: 79,487,690 (GRCm39) D591G probably benign Het
Kif15 T C 9: 122,826,862 (GRCm39) V800A probably damaging Het
Lmo7 T A 14: 102,137,996 (GRCm39) D666E probably damaging Het
Lrp5 T C 19: 3,678,295 (GRCm39) D520G probably damaging Het
Lrriq3 T A 3: 154,893,934 (GRCm39) M545K probably benign Het
Lsm5 T A 6: 56,680,310 (GRCm39) D44V probably damaging Het
Man1c1 G T 4: 134,296,379 (GRCm39) Y430* probably null Het
Map4 T A 9: 109,866,346 (GRCm39) probably null Het
Megf6 A G 4: 154,343,398 (GRCm39) K561R probably benign Het
Myo1e T C 9: 70,229,680 (GRCm39) Y173H probably damaging Het
Myo6 T A 9: 80,190,823 (GRCm39) S791R possibly damaging Het
Nol11 C A 11: 107,075,597 (GRCm39) E144* probably null Het
Ntng2 C T 2: 29,087,074 (GRCm39) R416Q probably damaging Het
Nxpe3 T A 16: 55,686,880 (GRCm39) I43F possibly damaging Het
Or4g17 T A 2: 111,209,837 (GRCm39) V164E possibly damaging Het
Or5t5 A T 2: 86,616,691 (GRCm39) T206S possibly damaging Het
Pkd1l2 T C 8: 117,808,999 (GRCm39) I64V probably damaging Het
Prf1 G A 10: 61,136,033 (GRCm39) R103H probably benign Het
Rest A G 5: 77,428,874 (GRCm39) D431G probably damaging Het
Serpina10 A T 12: 103,583,127 (GRCm39) L439Q probably damaging Het
Sgk3 T G 1: 9,951,804 (GRCm39) V176G probably damaging Het
Slc19a3 A G 1: 83,000,454 (GRCm39) S188P probably damaging Het
Sorbs1 A G 19: 40,338,392 (GRCm39) I336T probably damaging Het
Strip1 C T 3: 107,527,355 (GRCm39) probably null Het
Syt4 T C 18: 31,576,799 (GRCm39) E185G possibly damaging Het
Tcaf3 T A 6: 42,566,738 (GRCm39) I784F probably damaging Het
Tgfbr3l G T 8: 4,299,439 (GRCm39) R74L possibly damaging Het
Thoc7 A G 14: 13,949,282 (GRCm38) M194T probably benign Het
Thsd7b T C 1: 129,879,129 (GRCm39) Y989H probably damaging Het
Tmem156 C T 5: 65,233,161 (GRCm39) V134I probably benign Het
Tnks A T 8: 35,320,457 (GRCm39) V738E probably benign Het
Trpm6 A T 19: 18,770,240 (GRCm39) I342F probably damaging Het
Vmn2r69 A T 7: 85,060,711 (GRCm39) V291D probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 112,207,172 (GRCm39) probably benign Het
Wnk1 T C 6: 119,928,953 (GRCm39) T1292A probably damaging Het
Yes1 T A 5: 32,812,584 (GRCm39) C285S probably benign Het
Zbtb49 T C 5: 38,371,263 (GRCm39) N206S probably benign 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
R0576:Zbed6 UTSW 1 133,585,576 (GRCm39) missense probably benign 0.37
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'- AATCTTGGCTGCCTGATGACTTCTC -3'
(R):5'- TCCTCCTTCTCCTGGAAGCAATGG -3'

Sequencing Primer
(F):5'- CCAGGCATCGTATCATTCAGGAG -3'
(R):5'- CTGTAGATGAAAACAGAATGGGTAAG -3'
Posted On 2013-06-12