Incidental Mutation 'R6960:Zbtb46'
ID 541695
Institutional Source Beutler Lab
Gene Symbol Zbtb46
Ensembl Gene ENSMUSG00000027583
Gene Name zinc finger and BTB domain containing 46
Synonyms Btbd4, 2610019F01Rik, 4933406L05Rik
MMRRC Submission 045070-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R6960 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 181029555-181101219 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 181065217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 311 (D311G)
Ref Sequence ENSEMBL: ENSMUSP00000084672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029106] [ENSMUST00000087409] [ENSMUST00000155535] [ENSMUST00000180222]
AlphaFold Q8BID6
Predicted Effect probably benign
Transcript: ENSMUST00000029106
AA Change: D311G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000029106
Gene: ENSMUSG00000027583
AA Change: D311G

DomainStartEndE-ValueType
BTB 31 129 2.89e-21 SMART
ZnF_C2H2 418 440 4.72e-2 SMART
ZnF_C2H2 446 468 4.24e-4 SMART
ZnF_C2H2 474 498 1.31e2 SMART
low complexity region 543 557 N/A INTRINSIC
low complexity region 568 580 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000087409
AA Change: D311G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000084672
Gene: ENSMUSG00000027583
AA Change: D311G

DomainStartEndE-ValueType
BTB 31 129 2.89e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155535
Predicted Effect probably benign
Transcript: ENSMUST00000180222
AA Change: D311G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000137014
Gene: ENSMUSG00000027583
AA Change: D311G

DomainStartEndE-ValueType
BTB 31 129 2.89e-21 SMART
ZnF_C2H2 418 440 4.72e-2 SMART
ZnF_C2H2 446 468 4.24e-4 SMART
ZnF_C2H2 474 498 1.31e2 SMART
low complexity region 543 557 N/A INTRINSIC
low complexity region 568 580 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 98% (50/51)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit repressed altered myeloid potential in dendritic cells. Mice homozygous for a different knock-out allele exhibit partial activation of classical dendritic cells in the steady state. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,072,924 (GRCm39) D1170G probably benign Het
Ak7 A T 12: 105,676,503 (GRCm39) T68S probably benign Het
Arhgap12 A T 18: 6,111,901 (GRCm39) N26K probably damaging Het
B3galt1 A T 2: 67,949,033 (GRCm39) E249D probably damaging Het
Catsper4 T A 4: 133,954,648 (GRCm39) M1L probably benign Het
Cc2d2b T C 19: 40,773,506 (GRCm39) V523A possibly damaging Het
Ccn4 C T 15: 66,791,047 (GRCm39) T283M probably benign Het
Cyp11a1 T C 9: 57,925,659 (GRCm39) F98S probably damaging Het
Cyp2d26 T C 15: 82,674,446 (GRCm39) S479G probably damaging Het
Dclre1a T G 19: 56,531,141 (GRCm39) Y735S probably damaging Het
Dio2 C T 12: 90,696,671 (GRCm39) G106R probably damaging Het
Efcab12 T C 6: 115,815,273 (GRCm39) probably benign Het
Ehhadh C A 16: 21,581,028 (GRCm39) V655L probably benign Het
Ercc2 G A 7: 19,127,615 (GRCm39) R379Q probably damaging Het
Fabp4 A G 3: 10,273,537 (GRCm39) V12A probably benign Het
Fbn1 T C 2: 125,223,980 (GRCm39) I590V probably benign Het
Grm8 C A 6: 27,981,281 (GRCm39) V210L probably damaging Het
Jakmip3 A G 7: 138,625,065 (GRCm39) D359G probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Ly75 A T 2: 60,136,749 (GRCm39) Y1493N probably benign Het
Lyst A G 13: 13,808,663 (GRCm39) N111S probably benign Het
Lyz2 G C 10: 117,114,607 (GRCm39) I107M possibly damaging Het
Mgat5 A T 1: 127,248,371 (GRCm39) D91V possibly damaging Het
Mical3 T A 6: 120,935,504 (GRCm39) D1674V probably damaging Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Naa16 A G 14: 79,596,911 (GRCm39) Y358H possibly damaging Het
Nktr T A 9: 121,571,758 (GRCm39) H226Q probably damaging Het
Ocln T G 13: 100,635,380 (GRCm39) K503T possibly damaging Het
Olfm4 T C 14: 80,258,754 (GRCm39) L301S probably damaging Het
Or4f4b G A 2: 111,314,071 (GRCm39) V127I possibly damaging Het
Or6c74 T C 10: 129,869,972 (GRCm39) L159P probably benign Het
Paqr4 G A 17: 23,956,697 (GRCm39) A222V probably benign Het
Pcdhb13 A G 18: 37,576,509 (GRCm39) T296A probably benign Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Pigg T C 5: 108,474,707 (GRCm39) V309A probably damaging Het
Ptger4 T C 15: 5,264,196 (GRCm39) R462G probably benign Het
Ptprc C T 1: 138,006,183 (GRCm39) probably null Het
Rabggta A C 14: 55,959,299 (GRCm39) probably null Het
Rnf25 A G 1: 74,634,403 (GRCm39) S207P possibly damaging Het
Rsf1 G GACGGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Rtf1 A G 2: 119,541,559 (GRCm39) Q264R probably damaging Het
Ryr2 A G 13: 11,816,129 (GRCm39) V619A probably benign Het
Serpinb6d A G 13: 33,855,181 (GRCm39) N285S probably benign Het
Slamf6 A G 1: 171,745,320 (GRCm39) M16V probably damaging Het
Slc22a23 A G 13: 34,528,140 (GRCm39) probably null Het
Slc23a2 T C 2: 131,933,173 (GRCm39) D95G probably damaging Het
Smc3 T C 19: 53,617,802 (GRCm39) Y600H probably damaging Het
Tarbp1 G A 8: 127,155,778 (GRCm39) T1320M possibly damaging Het
Tigd4 A T 3: 84,501,423 (GRCm39) K113N probably damaging Het
Tjp1 A T 7: 64,952,763 (GRCm39) F1444I possibly damaging Het
Tstd3 A T 4: 21,767,118 (GRCm39) M1K probably null Het
Other mutations in Zbtb46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01960:Zbtb46 APN 2 181,065,928 (GRCm39) missense possibly damaging 0.48
IGL02401:Zbtb46 APN 2 181,065,245 (GRCm39) missense probably benign 0.01
R0127:Zbtb46 UTSW 2 181,053,608 (GRCm39) missense probably benign 0.32
R0279:Zbtb46 UTSW 2 181,053,567 (GRCm39) missense possibly damaging 0.67
R1618:Zbtb46 UTSW 2 181,066,042 (GRCm39) missense possibly damaging 0.92
R1711:Zbtb46 UTSW 2 181,053,477 (GRCm39) missense probably damaging 1.00
R1785:Zbtb46 UTSW 2 181,033,224 (GRCm39) missense probably damaging 1.00
R1786:Zbtb46 UTSW 2 181,033,224 (GRCm39) missense probably damaging 1.00
R1906:Zbtb46 UTSW 2 181,065,632 (GRCm39) missense probably damaging 1.00
R4170:Zbtb46 UTSW 2 181,066,148 (GRCm39) start codon destroyed probably null 0.98
R4782:Zbtb46 UTSW 2 181,032,929 (GRCm39) missense probably benign
R5656:Zbtb46 UTSW 2 181,065,210 (GRCm39) critical splice donor site probably null
R5808:Zbtb46 UTSW 2 181,065,363 (GRCm39) missense probably benign 0.00
R5932:Zbtb46 UTSW 2 181,053,713 (GRCm39) missense probably benign 0.00
R6360:Zbtb46 UTSW 2 181,033,248 (GRCm39) missense probably damaging 1.00
R6467:Zbtb46 UTSW 2 181,033,062 (GRCm39) missense probably damaging 1.00
R6672:Zbtb46 UTSW 2 181,053,629 (GRCm39) missense probably benign 0.01
R7485:Zbtb46 UTSW 2 181,065,512 (GRCm39) missense probably benign 0.04
R7780:Zbtb46 UTSW 2 181,033,225 (GRCm39) missense probably damaging 1.00
R9023:Zbtb46 UTSW 2 181,065,935 (GRCm39) missense possibly damaging 0.64
R9091:Zbtb46 UTSW 2 181,066,138 (GRCm39) missense probably benign 0.04
R9270:Zbtb46 UTSW 2 181,066,138 (GRCm39) missense probably benign 0.04
R9450:Zbtb46 UTSW 2 181,037,281 (GRCm39) missense probably damaging 1.00
R9573:Zbtb46 UTSW 2 181,053,548 (GRCm39) missense probably benign 0.03
Z1177:Zbtb46 UTSW 2 181,065,837 (GRCm39) missense possibly damaging 0.74
Predicted Primers PCR Primer
(F):5'- CATGGCGTTAGAAGGTGACC -3'
(R):5'- TCTTCCAAGGACACTGCAATAC -3'

Sequencing Primer
(F):5'- GGTGGCAGCACACACCTTTAATTC -3'
(R):5'- CAGAATTCTTTATCAGAACAGGGTTC -3'
Posted On 2018-11-28