Incidental Mutation 'R0655:Abtb3'
ID 62502
Institutional Source Beutler Lab
Gene Symbol Abtb3
Ensembl Gene ENSMUSG00000020042
Gene Name ankyrin repeat and BTB domain containing 3
Synonyms Btbd11, 6330404E16Rik
MMRRC Submission 038840-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R0655 (G1)
Quality Score 115
Status Not validated
Chromosome 10
Chromosomal Location 85222678-85496156 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85481390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 931 (T931A)
Ref Sequence ENSEMBL: ENSMUSP00000100944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020231] [ENSMUST00000105306] [ENSMUST00000105307]
AlphaFold Q6GQW0
Predicted Effect probably benign
Transcript: ENSMUST00000020231
SMART Domains Protein: ENSMUSP00000020231
Gene: ENSMUSG00000020042

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 damaging
Transcript: ENSMUST00000105306
AA Change: T462A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100943
Gene: ENSMUSG00000020042
AA Change: T462A

DomainStartEndE-ValueType
ANK 139 168 2.74e-7 SMART
ANK 185 214 7.3e-3 SMART
ANK 223 252 1.05e-3 SMART
ANK 266 296 2.21e3 SMART
BTB 459 558 5.38e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105307
AA Change: T931A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100944
Gene: ENSMUSG00000020042
AA Change: T931A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156123
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 G C 17: 36,268,737 (GRCm39) I757M probably benign Het
Atg16l1 T A 1: 87,694,551 (GRCm39) I76N probably damaging Het
Baz1b T A 5: 135,271,284 (GRCm39) I1289N probably benign Het
Bcl2l15 T A 3: 103,740,285 (GRCm39) probably null Het
Cbl G T 9: 44,070,049 (GRCm39) T566K probably damaging Het
Cd96 T C 16: 45,919,482 (GRCm39) K180E probably benign Het
Cpxm2 G A 7: 131,656,549 (GRCm39) T571I possibly damaging Het
Cyp2a12 A T 7: 26,736,046 (GRCm39) Y485F probably benign Het
Cyp4f17 T A 17: 32,743,871 (GRCm39) Y350N possibly damaging Het
Dstn T A 2: 143,780,342 (GRCm39) I14N probably damaging Het
Eea1 A G 10: 95,831,460 (GRCm39) S184G probably benign Het
Eif1a G T 18: 46,741,130 (GRCm39) G122C probably damaging Het
Esf1 T A 2: 139,990,799 (GRCm39) T562S probably benign Het
Fem1c G A 18: 46,638,227 (GRCm39) R592C probably benign Het
Fig4 T C 10: 41,161,673 (GRCm39) N30S probably damaging Het
Gria2 C A 3: 80,639,377 (GRCm39) E212* probably null Het
Gsdmc2 C T 15: 63,699,622 (GRCm39) A269T probably benign Het
Herc4 T C 10: 63,109,350 (GRCm39) V195A probably benign Het
Hivep1 T C 13: 42,321,061 (GRCm39) S2123P probably damaging Het
Hspa4 T C 11: 53,160,519 (GRCm39) E519G probably benign Het
Htr2b A G 1: 86,038,565 (GRCm39) S14P probably benign Het
Ifit1 T C 19: 34,625,047 (GRCm39) V61A probably damaging Het
Ifitm1 C A 7: 140,549,449 (GRCm39) F77L probably benign Het
Matn2 T C 15: 34,345,346 (GRCm39) S118P probably benign Het
Mtmr3 C A 11: 4,438,610 (GRCm39) D615Y probably damaging Het
Mtss1 C A 15: 58,953,351 (GRCm39) C9F probably damaging Het
Muc5b A T 7: 141,417,679 (GRCm39) I3542F probably benign Het
Nwd2 T C 5: 63,948,928 (GRCm39) S167P possibly damaging Het
Or1e34 T C 11: 73,778,631 (GRCm39) D189G possibly damaging Het
Or2ag1b A T 7: 106,288,632 (GRCm39) F102Y probably damaging Het
Or8b54 C T 9: 38,686,850 (GRCm39) Q100* probably null Het
Oscp1 T C 4: 125,952,526 (GRCm39) L18P probably damaging Het
Pax5 A G 4: 44,537,462 (GRCm39) S297P probably damaging Het
Phldb3 A T 7: 24,323,797 (GRCm39) D476V probably benign Het
Phlpp2 A T 8: 110,622,219 (GRCm39) I154L probably benign Het
Prx T A 7: 27,216,846 (GRCm39) V449E probably damaging Het
Psd3 A G 8: 68,416,341 (GRCm39) S519P probably benign Het
Rnf138 T G 18: 21,143,840 (GRCm39) V128G probably benign Het
Safb T A 17: 56,904,803 (GRCm39) S209T probably benign Het
Sbno1 C A 5: 124,514,212 (GRCm39) V1327L possibly damaging Het
Scarb1 A G 5: 125,377,504 (GRCm39) V176A probably damaging Het
Scd4 A G 19: 44,327,407 (GRCm39) H161R possibly damaging Het
Selenoo T A 15: 88,979,858 (GRCm39) H335Q probably damaging Het
Slfn8 A G 11: 82,894,647 (GRCm39) F664S probably benign Het
Spef2 T C 15: 9,626,217 (GRCm39) I1116M possibly damaging Het
Taf2 G A 15: 54,901,690 (GRCm39) R835W probably damaging Het
Tdrd9 A G 12: 112,006,899 (GRCm39) E921G probably damaging Het
Tectb G A 19: 55,178,302 (GRCm39) G234S possibly damaging Het
Tmc1 C T 19: 20,776,540 (GRCm39) M606I probably damaging Het
Tmed10 T A 12: 85,390,291 (GRCm39) I88F probably damaging Het
Tnfrsf11a G A 1: 105,735,880 (GRCm39) V31I unknown Het
Trp53inp2 G T 2: 155,228,088 (GRCm39) G98* probably null Het
Tssc4 A G 7: 142,623,782 (GRCm39) D30G probably damaging Het
Uaca T C 9: 60,779,311 (GRCm39) Y1233H probably benign Het
Unc13c G A 9: 73,838,235 (GRCm39) T872I probably damaging Het
Unc80 A G 1: 66,542,940 (GRCm39) H398R probably damaging Het
Vmn1r64 G A 7: 5,887,207 (GRCm39) T112I probably benign Het
Vmn1r85 A G 7: 12,818,650 (GRCm39) Y165H probably damaging Het
Vmn2r72 A T 7: 85,387,319 (GRCm39) C748* probably null Het
Wdr17 A G 8: 55,102,233 (GRCm39) W929R probably damaging Het
Yeats2 A T 16: 20,012,574 (GRCm39) K591* probably null Het
Zbtb9 T A 17: 27,193,074 (GRCm39) S160T probably damaging Het
Znfx1 T A 2: 166,898,827 (GRCm39) R32S probably damaging Het
Zng1 T C 19: 24,930,684 (GRCm39) M122V possibly 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
R0660:Abtb3 UTSW 10 85,224,234 (GRCm39) missense possibly damaging 0.65
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'- CCTGAGCATCTCCTGTGATGAGC -3'
(R):5'- GCATAAAGAGGCACCCTGTACTCTG -3'

Sequencing Primer
(F):5'- CTCCTGTGATGAGCCATAATAATGC -3'
(R):5'- agggatgtggaggtagaagg -3'
Posted On 2013-07-30