Incidental Mutation 'R5224:Abtb3'
ID 402509
Institutional Source Beutler Lab
Gene Symbol Abtb3
Ensembl Gene ENSMUSG00000020042
Gene Name ankyrin repeat and BTB domain containing 3
Synonyms Btbd11, 6330404E16Rik
MMRRC Submission 042797-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R5224 (G1)
Quality Score 217
Status Validated
Chromosome 10
Chromosomal Location 85222678-85496156 bp(+) (GRCm39)
Type of Mutation small deletion (4 aa in frame mutation)
DNA Base Change (assembly) CGTGACCTTTCTGGT to CGT at 85481386 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 benign
Transcript: ENSMUST00000105306
SMART Domains Protein: ENSMUSP00000100943
Gene: ENSMUSG00000020042

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 benign
Transcript: ENSMUST00000105307
SMART Domains Protein: ENSMUSP00000100944
Gene: ENSMUSG00000020042

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 A G 10: 20,862,921 (GRCm39) S699G probably damaging Het
Atp10d C T 5: 72,426,669 (GRCm39) A959V probably benign Het
Axl T C 7: 25,486,369 (GRCm39) M112V probably benign Het
Brd10 A T 19: 29,696,450 (GRCm39) S1014R possibly damaging Het
Camk1g A T 1: 193,037,342 (GRCm39) D119E probably damaging Het
Capn8 A C 1: 182,424,554 (GRCm39) N117T probably damaging Het
Cct3 G A 3: 88,204,532 (GRCm39) probably benign Het
Csmd3 T C 15: 47,752,080 (GRCm39) T1293A possibly damaging Het
Depdc1b A G 13: 108,521,354 (GRCm39) D387G probably damaging Het
Dtx3l A G 16: 35,759,163 (GRCm39) Y29H possibly damaging Het
Erp44 A T 4: 48,279,435 (GRCm39) N2K probably benign Het
Fmn1 A G 2: 113,195,470 (GRCm39) E390G unknown Het
Ganab T A 19: 8,887,955 (GRCm39) D396E probably benign Het
Gatd3a A G 10: 77,999,367 (GRCm39) V148A probably damaging Het
Gcc2 T A 10: 58,121,982 (GRCm39) S1140T probably damaging Het
Gm7008 T C 12: 40,273,342 (GRCm39) probably benign Het
Gphn T A 12: 78,637,361 (GRCm39) F354I probably damaging Het
H2-T7 G A 17: 36,454,231 (GRCm39) noncoding transcript Het
Hnrnpul1 G A 7: 25,444,600 (GRCm39) T236M probably damaging Het
Itpr2 T A 6: 146,068,149 (GRCm39) M2410L probably benign Het
Jaml T A 9: 45,015,564 (GRCm39) M356K probably damaging Het
Kbtbd12 T A 6: 88,594,681 (GRCm39) probably benign Het
Ldlrad3 G T 2: 101,943,954 (GRCm39) N39K probably damaging Het
Lrp1b G A 2: 41,000,852 (GRCm39) T2238I possibly damaging Het
Lypd8 T A 11: 58,277,634 (GRCm39) C139S possibly damaging Het
Masp1 G T 16: 23,313,445 (GRCm39) H163Q probably damaging Het
Mpo T C 11: 87,687,283 (GRCm39) probably benign Het
Muc19 A T 15: 91,825,910 (GRCm39) noncoding transcript Het
Muc5ac T A 7: 141,347,708 (GRCm39) S438T probably benign Het
Nav2 T C 7: 49,201,473 (GRCm39) V160A probably benign Het
Nlrc5 G T 8: 95,220,944 (GRCm39) A1128S probably benign Het
Nlrp5 T A 7: 23,117,401 (GRCm39) L375Q probably damaging Het
Nlrp9a A G 7: 26,256,717 (GRCm39) T112A probably benign Het
Nppa T C 4: 148,085,773 (GRCm39) S127P probably damaging Het
Or8k24 A G 2: 86,216,193 (GRCm39) S190P possibly damaging Het
Osbpl1a T C 18: 13,066,753 (GRCm39) N2S probably benign Het
Otoa A G 7: 120,739,016 (GRCm39) T742A probably damaging Het
Pcdh10 A G 3: 45,347,249 (GRCm39) R1015G probably damaging Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Plpp1 T A 13: 112,988,046 (GRCm39) Y56* probably null Het
Ppp1r12a A G 10: 108,096,886 (GRCm39) T236A probably benign Het
Rhag T C 17: 41,139,395 (GRCm39) L110P probably damaging Het
Scn11a T A 9: 119,583,858 (GRCm39) N1586Y probably damaging Het
Sgms2 T A 3: 131,135,766 (GRCm39) K36I probably damaging Het
Slc22a2 A G 17: 12,805,719 (GRCm39) N157D probably damaging Het
Stx19 T G 16: 62,642,937 (GRCm39) M251R probably benign Het
Suco A G 1: 161,662,274 (GRCm39) I719T probably benign Het
Tnr A G 1: 159,750,885 (GRCm39) D1282G probably damaging Het
Tram1 T C 1: 13,648,349 (GRCm39) R154G probably benign Het
Ubtfl1 G T 9: 18,321,326 (GRCm39) V285L probably benign Het
Ugt2b38 A G 5: 87,571,601 (GRCm39) S144P probably benign Het
Washc2 T G 6: 116,185,965 (GRCm39) *58G probably null Het
Zfp354a T A 11: 50,960,876 (GRCm39) S362R 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
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
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'- CTGTGATGAGCCATAATAATGCATC -3'
(R):5'- TCTGCTAGCCCAGTGACAAC -3'

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