Incidental Mutation 'R0660:Abtb3'
ID 208436
Institutional Source Beutler Lab
Gene Symbol Abtb3
Ensembl Gene ENSMUSG00000020042
Gene Name ankyrin repeat and BTB domain containing 3
Synonyms Btbd11, 6330404E16Rik
MMRRC Submission 038845-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R0660 (G1)
Quality Score 38
Status Validated
Chromosome 10
Chromosomal Location 85222678-85496156 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 85224234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 348 (A348T)
Ref Sequence ENSEMBL: ENSMUSP00000020231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020231] [ENSMUST00000105307]
AlphaFold Q6GQW0
Predicted Effect possibly damaging
Transcript: ENSMUST00000020231
AA Change: A348T

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000020231
Gene: ENSMUSG00000020042
AA Change: A348T

DomainStartEndE-ValueType
low complexity region 101 109 N/A INTRINSIC
Blast:H2B 122 173 3e-9 BLAST
low complexity region 174 194 N/A INTRINSIC
Blast:H2A 195 261 6e-37 BLAST
low complexity region 262 285 N/A INTRINSIC
low complexity region 292 344 N/A INTRINSIC
Blast:H2A 350 384 9e-16 BLAST
ANK 608 637 2.74e-7 SMART
ANK 654 683 7.3e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105307
AA Change: A348T

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000100944
Gene: ENSMUSG00000020042
AA Change: A348T

DomainStartEndE-ValueType
low complexity region 101 109 N/A INTRINSIC
low complexity region 174 194 N/A INTRINSIC
Blast:H2A 195 261 5e-37 BLAST
low complexity region 262 285 N/A INTRINSIC
low complexity region 292 344 N/A INTRINSIC
Blast:H2A 350 384 1e-15 BLAST
ANK 608 637 2.74e-7 SMART
ANK 654 683 7.3e-3 SMART
ANK 692 721 1.05e-3 SMART
ANK 735 765 2.21e3 SMART
BTB 928 1027 5.38e-21 SMART
Meta Mutation Damage Score 0.1324 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.5%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik T C 17: 48,473,759 (GRCm39) I53V probably benign Het
Actr3 T A 1: 125,336,304 (GRCm39) I129L probably benign Het
Armcx2 G A X: 133,706,385 (GRCm39) T416I possibly damaging Het
Aspm T A 1: 139,385,502 (GRCm39) M382K probably benign Het
Cacna1b A G 2: 24,544,458 (GRCm39) S1243P probably damaging Het
Cenpp C T 13: 49,618,173 (GRCm39) R244Q probably benign Het
Dock2 A G 11: 34,198,621 (GRCm39) S1444P probably damaging Het
Fmo4 T C 1: 162,637,417 (GRCm39) N25S probably benign Het
Ipo8 A T 6: 148,701,711 (GRCm39) L466I probably benign Het
Or5p6 T C 7: 107,630,822 (GRCm39) T243A probably damaging Het
Pnpla6 T C 8: 3,572,269 (GRCm39) probably benign Het
Prkcb T C 7: 122,024,182 (GRCm39) V69A possibly damaging Het
Sars1 G A 3: 108,338,789 (GRCm39) L247F probably damaging Het
Slco1a4 T C 6: 141,758,467 (GRCm39) I515V probably benign Het
Tanc1 A T 2: 59,674,228 (GRCm39) K1778* probably null Het
Zkscan3 A T 13: 21,572,630 (GRCm39) I167N probably damaging Het
Other mutations in Abtb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00666:Abtb3 APN 10 85,465,080 (GRCm39) missense possibly damaging 0.87
IGL01143:Abtb3 APN 10 85,490,335 (GRCm39) splice site probably benign
IGL01365:Abtb3 APN 10 85,469,680 (GRCm39) missense possibly damaging 0.75
IGL01409:Abtb3 APN 10 85,494,029 (GRCm39) missense possibly damaging 0.88
IGL01531:Abtb3 APN 10 85,465,069 (GRCm39) splice site probably benign
IGL01593:Abtb3 APN 10 85,490,339 (GRCm39) splice site probably benign
IGL01751:Abtb3 APN 10 85,490,366 (GRCm39) missense probably damaging 1.00
IGL01752:Abtb3 APN 10 85,490,366 (GRCm39) missense probably damaging 1.00
IGL02041:Abtb3 APN 10 85,223,418 (GRCm39) missense unknown
IGL02486:Abtb3 APN 10 85,476,419 (GRCm39) missense probably damaging 1.00
IGL02597:Abtb3 APN 10 85,469,665 (GRCm39) missense probably damaging 1.00
IGL02957:Abtb3 APN 10 85,467,150 (GRCm39) splice site probably benign
IGL02957:Abtb3 APN 10 85,469,701 (GRCm39) missense probably damaging 1.00
IGL02967:Abtb3 APN 10 85,469,646 (GRCm39) missense probably benign 0.11
IGL02975:Abtb3 APN 10 85,467,207 (GRCm39) missense probably benign 0.16
IGL03078:Abtb3 APN 10 85,468,027 (GRCm39) missense probably damaging 1.00
IGL03130:Abtb3 APN 10 85,224,347 (GRCm39) splice site probably null
IGL03335:Abtb3 APN 10 85,494,222 (GRCm39) utr 3 prime probably benign
R0024:Abtb3 UTSW 10 85,223,311 (GRCm39) missense unknown
R0599:Abtb3 UTSW 10 85,494,200 (GRCm39) missense probably damaging 1.00
R0655:Abtb3 UTSW 10 85,481,390 (GRCm39) missense probably damaging 1.00
R0664:Abtb3 UTSW 10 85,224,234 (GRCm39) missense possibly damaging 0.65
R1155:Abtb3 UTSW 10 85,465,155 (GRCm39) missense probably damaging 1.00
R1244:Abtb3 UTSW 10 85,223,227 (GRCm39) missense unknown
R1389:Abtb3 UTSW 10 85,476,460 (GRCm39) missense possibly damaging 0.76
R1418:Abtb3 UTSW 10 85,481,442 (GRCm39) missense probably damaging 1.00
R1703:Abtb3 UTSW 10 85,223,248 (GRCm39) missense unknown
R1957:Abtb3 UTSW 10 85,469,563 (GRCm39) missense probably damaging 1.00
R2519:Abtb3 UTSW 10 85,487,475 (GRCm39) missense probably damaging 1.00
R3716:Abtb3 UTSW 10 85,397,392 (GRCm39) missense probably damaging 1.00
R3915:Abtb3 UTSW 10 85,468,134 (GRCm39) missense probably damaging 1.00
R4738:Abtb3 UTSW 10 85,463,112 (GRCm39) nonsense probably null
R4782:Abtb3 UTSW 10 85,490,414 (GRCm39) missense probably damaging 1.00
R4846:Abtb3 UTSW 10 85,465,130 (GRCm39) missense probably damaging 1.00
R4887:Abtb3 UTSW 10 85,223,242 (GRCm39) missense unknown
R4960:Abtb3 UTSW 10 85,487,526 (GRCm39) missense probably benign 0.34
R5224:Abtb3 UTSW 10 85,481,386 (GRCm39) small deletion probably benign
R5341:Abtb3 UTSW 10 85,223,236 (GRCm39) missense unknown
R5713:Abtb3 UTSW 10 85,487,516 (GRCm39) missense probably damaging 1.00
R6046:Abtb3 UTSW 10 85,223,947 (GRCm39) missense unknown
R6461:Abtb3 UTSW 10 85,476,428 (GRCm39) missense probably damaging 1.00
R6809:Abtb3 UTSW 10 85,467,240 (GRCm39) missense probably benign 0.01
R7069:Abtb3 UTSW 10 85,223,520 (GRCm39) missense unknown
R7130:Abtb3 UTSW 10 85,223,419 (GRCm39) missense unknown
R7202:Abtb3 UTSW 10 85,223,629 (GRCm39) missense unknown
R7275:Abtb3 UTSW 10 85,490,346 (GRCm39) missense probably damaging 1.00
R7489:Abtb3 UTSW 10 85,463,079 (GRCm39) missense probably damaging 1.00
R7743:Abtb3 UTSW 10 85,460,813 (GRCm39) missense possibly damaging 0.95
R7873:Abtb3 UTSW 10 85,466,989 (GRCm39) missense possibly damaging 0.74
R8155:Abtb3 UTSW 10 85,476,473 (GRCm39) critical splice donor site probably null
R8306:Abtb3 UTSW 10 85,434,409 (GRCm39) nonsense probably null
R8812:Abtb3 UTSW 10 85,463,113 (GRCm39) missense probably damaging 0.99
R8891:Abtb3 UTSW 10 85,223,958 (GRCm39) missense unknown
R9068:Abtb3 UTSW 10 85,223,762 (GRCm39) missense unknown
R9800:Abtb3 UTSW 10 85,224,079 (GRCm39) missense unknown
X0020:Abtb3 UTSW 10 85,467,216 (GRCm39) missense possibly damaging 0.86
Z1088:Abtb3 UTSW 10 85,223,721 (GRCm39) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- ATCTACCTGACCGCCTGTATGGAG -3'
(R):5'- ACGAGAGGCAAACTTGAACCCG -3'

Sequencing Primer
(F):5'- ggctccagctccggttc -3'
(R):5'- GGAGTTGACAGAGCCACTTACC -3'
Posted On 2014-06-26