Incidental Mutation 'R5318:Zbed6'
ID 405901
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 042901-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R5318 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 133547678-133589056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 133585853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 495 (S495P)
Ref Sequence ENSEMBL: ENSMUSP00000140892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027736] [ENSMUST00000179598] [ENSMUST00000186476] [ENSMUST00000190574] [ENSMUST00000191896] [ENSMUST00000195424] [ENSMUST00000194668] [ENSMUST00000193504] [ENSMUST00000195067]
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 possibly damaging
Transcript: ENSMUST00000179598
AA Change: S495P

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136026
Gene: ENSMUSG00000094410
AA Change: S495P

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 possibly damaging
Transcript: ENSMUST00000186476
AA Change: S495P

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139417
Gene: ENSMUSG00000094410
AA Change: S495P

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 possibly damaging
Transcript: ENSMUST00000190574
AA Change: S495P

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140892
Gene: ENSMUSG00000102049
AA Change: S495P

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: 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
Predicted Effect probably benign
Transcript: ENSMUST00000195067
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.7%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik G A 17: 35,878,883 (GRCm39) E74K possibly damaging Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Ankfn1 A G 11: 89,282,754 (GRCm39) S298P probably damaging Het
Arfgef2 A C 2: 166,715,891 (GRCm39) K1393N probably damaging Het
Atp4a T A 7: 30,414,754 (GRCm39) V181E probably damaging Het
Bin3 A G 14: 70,371,961 (GRCm39) D134G possibly damaging Het
Cabs1 A G 5: 88,128,425 (GRCm39) T359A possibly damaging Het
Cblb A T 16: 52,006,561 (GRCm39) K754N possibly damaging Het
Ccdc153 A T 9: 44,157,062 (GRCm39) R135* probably null Het
Cel T C 2: 28,447,720 (GRCm39) E398G possibly damaging Het
Clip1 G A 5: 123,751,147 (GRCm39) probably benign Het
Dnase2b C A 3: 146,288,210 (GRCm39) R295L probably benign Het
Dnm3 G A 1: 161,839,376 (GRCm39) Q194* probably null Het
Dtx2 T A 5: 136,040,954 (GRCm39) S120T possibly damaging Het
Fat3 A T 9: 16,287,925 (GRCm39) S533T probably damaging Het
Foxred2 T C 15: 77,836,598 (GRCm39) I306V probably benign Het
Gdpd5 A T 7: 99,102,234 (GRCm39) T278S probably benign Het
Gli2 T A 1: 118,772,200 (GRCm39) T502S probably damaging Het
Gm21830 A T 2: 67,263,158 (GRCm39) probably null Het
Gm5617 T A 9: 48,407,211 (GRCm39) I115N possibly damaging Het
Gpr75 G T 11: 30,842,459 (GRCm39) A455S probably benign Het
Grik3 A G 4: 125,587,929 (GRCm39) E683G probably damaging Het
Grin2b T C 6: 135,710,916 (GRCm39) I877V probably damaging Het
Gsg1l2 G T 11: 67,673,347 (GRCm39) C109F possibly damaging Het
H2-Q4 G A 17: 35,602,287 (GRCm39) V341I possibly damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Kif5c A G 2: 49,561,840 (GRCm39) K68R probably benign Het
Lct T A 1: 128,232,109 (GRCm39) H580L probably damaging Het
Lrrtm4 A G 6: 79,999,495 (GRCm39) I302M probably damaging Het
Mef2b A T 8: 70,619,493 (GRCm39) R228W probably damaging Het
Mtus2 T A 5: 148,013,382 (GRCm39) D58E probably benign Het
Myh15 T G 16: 48,930,834 (GRCm39) S603A probably damaging Het
Or1x2 T C 11: 50,918,420 (GRCm39) V197A probably benign Het
Or8d1 C T 9: 38,766,744 (GRCm39) P129S probably damaging Het
Or8s2 A G 15: 98,276,523 (GRCm39) I156T possibly damaging Het
P2rx4 G A 5: 122,857,211 (GRCm39) C149Y probably null Het
Pramel51 A T 12: 88,142,998 (GRCm39) C207S probably benign Het
Proca1 T A 11: 78,092,683 (GRCm39) V43E possibly damaging Het
Rftn1 G T 17: 50,301,486 (GRCm39) N454K probably benign Het
Rrp15 T C 1: 186,453,743 (GRCm39) T235A probably benign Het
Serpina6 T C 12: 103,620,221 (GRCm39) E176G possibly damaging Het
Shprh T G 10: 11,042,301 (GRCm39) I761M probably benign Het
Smg1 A T 7: 117,759,427 (GRCm39) probably benign Het
Snupn T C 9: 56,864,345 (GRCm39) S15P probably damaging Het
Tbc1d15 A T 10: 115,044,874 (GRCm39) Y509* probably null Het
Tcf4 T C 18: 69,598,501 (GRCm39) V72A probably benign Het
Tdrd3 T C 14: 87,714,899 (GRCm39) probably null Het
Tm9sf4 T A 2: 153,029,576 (GRCm39) V175D probably benign Het
Vmn1r201 T C 13: 22,659,092 (GRCm39) L102P probably damaging Het
Wdfy4 T A 14: 32,800,300 (GRCm39) N1788I possibly damaging Het
Xpc A C 6: 91,469,992 (GRCm39) V744G probably damaging Het
Xrcc6 T C 15: 81,921,708 (GRCm39) F178L probably damaging Het
Zfyve26 A G 12: 79,317,624 (GRCm39) V1196A 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
R0526:Zbed6 UTSW 1 133,586,472 (GRCm39) missense probably damaging 0.99
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
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'- TCTCTGAGTCTCTGCAGGG -3'
(R):5'- TCAAAGGTTTCTACAGATTGTCGCTC -3'

Sequencing Primer
(F):5'- GGGTAAAGCCACCACCTTTGATTG -3'
(R):5'- CTCCTGACTATAGATTGCCATCAGAG -3'
Posted On 2016-07-22