Incidental Mutation 'R4394:Abtb1'
ID 326525
Institutional Source Beutler Lab
Gene Symbol Abtb1
Ensembl Gene ENSMUSG00000030083
Gene Name ankyrin repeat and BTB domain containing 1
Synonyms EF1ABP, BPOZ
MMRRC Submission 041683-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.376) question?
Stock # R4394 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 88812896-88818966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88813566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 391 (F391L)
Ref Sequence ENSEMBL: ENSMUSP00000032169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032169] [ENSMUST00000203137] [ENSMUST00000203272] [ENSMUST00000203864] [ENSMUST00000204327] [ENSMUST00000205082] [ENSMUST00000204932] [ENSMUST00000204458]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032169
AA Change: F391L

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000032169
Gene: ENSMUSG00000030083
AA Change: F391L

DomainStartEndE-ValueType
ANK 1 31 5.03e2 SMART
ANK 35 64 2.81e-4 SMART
BTB 115 212 7.8e-18 SMART
BTB 272 376 4.24e-19 SMART
low complexity region 412 433 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203120
Predicted Effect probably benign
Transcript: ENSMUST00000203137
Predicted Effect probably benign
Transcript: ENSMUST00000203272
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203514
Predicted Effect probably benign
Transcript: ENSMUST00000203864
Predicted Effect probably benign
Transcript: ENSMUST00000204327
Predicted Effect probably benign
Transcript: ENSMUST00000205082
Predicted Effect probably benign
Transcript: ENSMUST00000204932
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204560
Predicted Effect probably benign
Transcript: ENSMUST00000204458
Meta Mutation Damage Score 0.3776 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.8%
  • 20x: 93.4%
Validation Efficiency 99% (69/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AC140205.10 C A 8: 21,323,181 (GRCm39) T192K probably benign Het
Arid4b T A 13: 14,329,557 (GRCm39) probably null Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Brip1 A T 11: 85,965,124 (GRCm39) N855K possibly damaging Het
Ces2f A G 8: 105,677,586 (GRCm39) N197S probably damaging Het
Chd4 A G 6: 125,098,581 (GRCm39) T1520A probably damaging Het
Cltc A C 11: 86,624,456 (GRCm39) N159K probably damaging Het
Cntn1 C T 15: 92,189,645 (GRCm39) T656I probably damaging Het
Crybg3 A G 16: 59,380,458 (GRCm39) probably benign Het
Dzip1l T A 9: 99,521,907 (GRCm39) L181H probably damaging Het
Fam3b C A 16: 97,282,986 (GRCm39) probably null Het
Fat1 T A 8: 45,405,383 (GRCm39) N711K probably damaging Het
Fat3 A G 9: 15,834,088 (GRCm39) I4168T probably benign Het
Fbxw20 T C 9: 109,061,398 (GRCm39) D117G probably benign Het
Gm8122 A G 14: 43,091,525 (GRCm39) L81P unknown Het
Hal T C 10: 93,332,421 (GRCm39) probably benign Het
Hgf T A 5: 16,823,949 (GRCm39) Y715* probably null Het
Hid1 T A 11: 115,258,468 (GRCm39) probably benign Het
Hyou1 T A 9: 44,293,169 (GRCm39) V125E probably damaging Het
Jrkl G A 9: 13,245,146 (GRCm39) Q172* probably null Het
Lamc3 A G 2: 31,821,964 (GRCm39) E1304G probably benign Het
Lman2l A C 1: 36,478,804 (GRCm39) C103G probably damaging Het
Lrfn5 T C 12: 61,890,276 (GRCm39) S522P probably damaging Het
Mark3 A T 12: 111,570,957 (GRCm39) I86L possibly damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Mgst2 G A 3: 51,571,949 (GRCm39) V26I probably damaging Het
Neb A T 2: 52,077,525 (GRCm39) Y158* probably null Het
Nipbl T C 15: 8,391,345 (GRCm39) I210V probably benign Het
Or7g18 A T 9: 18,786,907 (GRCm39) I95L probably damaging Het
Or8j3b C T 2: 86,205,523 (GRCm39) A78T possibly damaging Het
Pcdhb8 C T 18: 37,489,935 (GRCm39) P538S probably damaging Het
Postn A G 3: 54,278,376 (GRCm39) D295G probably damaging Het
Prss38 T C 11: 59,263,854 (GRCm39) Y286C probably damaging Het
Psen2 A T 1: 180,068,347 (GRCm39) V102E probably damaging Het
Ptpn9 A T 9: 56,943,847 (GRCm39) K126N possibly damaging Het
Ptprd A G 4: 76,046,922 (GRCm39) I435T probably damaging Het
Rab39 T C 9: 53,597,950 (GRCm39) K105R probably benign Het
Robo2 C A 16: 73,745,267 (GRCm39) R840L probably benign Het
Rps6ka5 T A 12: 100,547,578 (GRCm39) I311F probably damaging Het
Ryr1 G T 7: 28,793,667 (GRCm39) T1267K possibly damaging Het
Sis G A 3: 72,863,482 (GRCm39) T252I probably damaging Het
Slc41a3 A T 6: 90,612,312 (GRCm39) S201C probably damaging Het
Slitrk1 A C 14: 109,148,735 (GRCm39) S659A probably benign Het
Snx25 A T 8: 46,488,715 (GRCm39) M880K probably damaging Het
Tbxas1 C T 6: 39,004,713 (GRCm39) T320I probably benign Het
Tex44 T C 1: 86,355,489 (GRCm39) V466A probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tnxb C T 17: 34,897,636 (GRCm39) Q804* probably null Het
Tpst1 T A 5: 130,131,343 (GRCm39) M271K probably benign Het
Trank1 C T 9: 111,194,265 (GRCm39) T763I possibly damaging Het
Trip12 A T 1: 84,703,462 (GRCm39) H729Q probably damaging Het
Tshz3 A T 7: 36,469,030 (GRCm39) T340S probably damaging Het
Ttc5 T C 14: 51,018,962 (GRCm39) K52E probably benign Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Wsb2 T G 5: 117,501,643 (GRCm39) probably benign Het
Other mutations in Abtb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01487:Abtb1 APN 6 88,816,431 (GRCm39) missense probably damaging 0.98
IGL02264:Abtb1 APN 6 88,813,517 (GRCm39) missense probably benign 0.00
IGL02376:Abtb1 APN 6 88,815,466 (GRCm39) splice site probably benign
IGL02702:Abtb1 APN 6 88,815,120 (GRCm39) missense probably benign
IGL03132:Abtb1 APN 6 88,815,941 (GRCm39) missense probably benign 0.01
IGL03266:Abtb1 APN 6 88,815,916 (GRCm39) missense probably damaging 0.97
PIT4243001:Abtb1 UTSW 6 88,815,708 (GRCm39) missense probably benign 0.16
PIT4418001:Abtb1 UTSW 6 88,816,630 (GRCm39) missense possibly damaging 0.78
R0331:Abtb1 UTSW 6 88,817,684 (GRCm39) unclassified probably benign
R0763:Abtb1 UTSW 6 88,815,261 (GRCm39) missense probably damaging 0.96
R1565:Abtb1 UTSW 6 88,813,536 (GRCm39) missense probably benign 0.03
R1796:Abtb1 UTSW 6 88,813,601 (GRCm39) missense possibly damaging 0.68
R1822:Abtb1 UTSW 6 88,813,536 (GRCm39) missense probably benign 0.03
R1824:Abtb1 UTSW 6 88,813,536 (GRCm39) missense probably benign 0.03
R2225:Abtb1 UTSW 6 88,813,349 (GRCm39) missense probably damaging 1.00
R2227:Abtb1 UTSW 6 88,813,349 (GRCm39) missense probably damaging 1.00
R2399:Abtb1 UTSW 6 88,815,720 (GRCm39) missense possibly damaging 0.89
R4625:Abtb1 UTSW 6 88,813,269 (GRCm39) missense probably benign 0.00
R5312:Abtb1 UTSW 6 88,815,240 (GRCm39) missense probably damaging 1.00
R5552:Abtb1 UTSW 6 88,813,530 (GRCm39) missense probably benign 0.04
R6035:Abtb1 UTSW 6 88,818,788 (GRCm39) missense probably damaging 1.00
R6035:Abtb1 UTSW 6 88,818,788 (GRCm39) missense probably damaging 1.00
R6092:Abtb1 UTSW 6 88,815,433 (GRCm39) missense probably benign
R6195:Abtb1 UTSW 6 88,817,718 (GRCm39) missense probably benign 0.04
R7257:Abtb1 UTSW 6 88,816,434 (GRCm39) missense probably benign 0.01
R9547:Abtb1 UTSW 6 88,815,917 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AAGCGGATGTCATCGACGAG -3'
(R):5'- GATGATCCCCTGTGTCCTGTTG -3'

Sequencing Primer
(F):5'- TGTCATCGACGAGCGGGATG -3'
(R):5'- GTTGTCCCTTTTCGTGTCACAG -3'
Posted On 2015-07-06