Incidental Mutation 'RF016:Baz2a'
ID 603567
Institutional Source Beutler Lab
Gene Symbol Baz2a
Ensembl Gene ENSMUSG00000040054
Gene Name bromodomain adjacent to zinc finger domain, 2A
Synonyms C030005G16Rik, Walp3, Tip5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # RF016 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 127927453-127965172 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127961185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1636 (E1636G)
Ref Sequence ENSEMBL: ENSMUSP00000151445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045621] [ENSMUST00000170054] [ENSMUST00000217851] [ENSMUST00000220049]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000045621
AA Change: E1633G

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000044359
Gene: ENSMUSG00000040054
AA Change: E1633G

DomainStartEndE-ValueType
low complexity region 73 82 N/A INTRINSIC
low complexity region 181 192 N/A INTRINSIC
low complexity region 342 353 N/A INTRINSIC
low complexity region 421 475 N/A INTRINSIC
low complexity region 518 529 N/A INTRINSIC
MBD 539 614 3.87e-35 SMART
AT_hook 639 651 2.38e0 SMART
AT_hook 660 672 1.65e0 SMART
low complexity region 697 710 N/A INTRINSIC
coiled coil region 736 776 N/A INTRINSIC
DDT 837 902 3.75e-18 SMART
Pfam:WHIM1 939 988 4.8e-8 PFAM
low complexity region 1001 1013 N/A INTRINSIC
AT_hook 1174 1186 6.23e1 SMART
AT_hook 1388 1400 4.21e0 SMART
Pfam:WHIM3 1423 1464 1e-9 PFAM
PHD 1662 1708 1.47e-11 SMART
low complexity region 1741 1753 N/A INTRINSIC
BROMO 1773 1881 7.71e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170054
AA Change: E1634G

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000129803
Gene: ENSMUSG00000040054
AA Change: E1634G

DomainStartEndE-ValueType
low complexity region 73 82 N/A INTRINSIC
low complexity region 181 192 N/A INTRINSIC
low complexity region 343 354 N/A INTRINSIC
low complexity region 422 476 N/A INTRINSIC
low complexity region 519 530 N/A INTRINSIC
MBD 540 615 3.87e-35 SMART
AT_hook 640 652 2.38e0 SMART
AT_hook 661 673 1.65e0 SMART
low complexity region 698 711 N/A INTRINSIC
coiled coil region 737 777 N/A INTRINSIC
DDT 838 903 3.75e-18 SMART
Pfam:WHIM1 940 989 4.8e-8 PFAM
low complexity region 1002 1014 N/A INTRINSIC
AT_hook 1175 1187 6.23e1 SMART
AT_hook 1389 1401 4.21e0 SMART
Pfam:WHIM3 1424 1462 5.5e-19 PFAM
PHD 1663 1709 1.47e-11 SMART
low complexity region 1742 1754 N/A INTRINSIC
BROMO 1774 1882 7.71e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000217851
AA Change: E1636G

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect possibly damaging
Transcript: ENSMUST00000220049
AA Change: E1633G

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005L19Rik TGCTGTGGC TGCTGTGGCGGCTGTGGC 1: 82,891,298 (GRCm39) probably benign Het
Abi3bp GCCCACGACCC GCCCACGACCCACGACCC 16: 56,447,950 (GRCm39) probably null Het
Amer3 A G 1: 34,626,201 (GRCm39) I147V probably damaging Het
Ankhd1 GGCGGC GGCGGCAGCGGC 18: 36,693,962 (GRCm39) probably benign Het
Ankhd1 GCGGCG GCGGCGACGGCG 18: 36,693,963 (GRCm39) probably benign Het
Ankzf1 G A 1: 75,172,477 (GRCm39) R259H probably damaging Het
Apol9b T C 15: 77,619,714 (GRCm39) V170A probably benign Het
Asb3 A G 11: 31,011,407 (GRCm39) I267M possibly damaging Het
Birc6 G T 17: 74,996,319 (GRCm39) V4513F probably damaging Het
Blm CCTCCTCC CCTCCTCCTCCTACTCCTCC 7: 80,162,674 (GRCm39) probably null Het
Ccdc113 G A 8: 96,264,733 (GRCm39) R81H probably benign Het
Ccdc27 T C 4: 154,120,567 (GRCm39) R410G probably benign Het
Cdhr5 A G 7: 140,852,097 (GRCm39) V435A possibly damaging Het
Cercam T C 2: 29,759,317 (GRCm39) S15P unknown Het
Cntrl T C 2: 35,009,998 (GRCm39) V224A probably benign Het
Comtd1 T A 14: 21,898,664 (GRCm39) Q56L probably benign Het
Cul9 CCT CCTACT 17: 46,811,789 (GRCm39) probably null Het
Cyb5r4 AGGGA AGGGATGGGACAGACCCACTGCCCCGGGA 9: 86,922,497 (GRCm39) probably benign Het
Cyb5r4 TGTGACAGACACACTGCCCAGGGA TGTGACAGACACACTGCCCAGGGACGTGACAGACACACTGCCCAGGGA 9: 86,922,478 (GRCm39) probably benign Het
Cyb5r4 CCCAGGGA CCCAGGGATGTGACAGACACACTGACCAGGGA 9: 86,922,494 (GRCm39) probably benign Het
Cyld T A 8: 89,432,069 (GRCm39) Y22* probably null Het
Dbt T C 3: 116,333,363 (GRCm39) Y278H probably damaging Het
Ddb1 A G 19: 10,605,222 (GRCm39) H1070R probably damaging Het
Dek G T 13: 47,251,662 (GRCm39) S248* probably null Het
Dixdc1 T C 9: 50,604,941 (GRCm39) T300A probably benign Het
Dusp8 A T 7: 141,636,589 (GRCm39) S334T probably benign Het
Efhd2 CCGCCG CCGCCGACGCCG 4: 141,602,067 (GRCm39) probably benign Het
Ehbp1 T C 11: 22,096,646 (GRCm39) N306S probably benign Het
Fcer1a T C 1: 173,053,086 (GRCm39) I37V possibly damaging Het
Fgfr2 G T 7: 129,779,410 (GRCm39) Q639K probably benign Het
Ftdc1 T A 16: 58,437,230 (GRCm39) N26I probably damaging Het
Gab3 CTT CTTATT X: 74,043,591 (GRCm39) probably null Het
Gins4 T C 8: 23,722,626 (GRCm39) M98V probably benign Het
Gm8369 GTGTGTGT GTGTGTGTTTGTGTGT 19: 11,489,118 (GRCm39) probably null Het
Grik1 G A 16: 87,831,074 (GRCm39) S232L Het
Gsg1l A G 7: 125,619,794 (GRCm39) probably null Het
H13 G A 2: 152,511,589 (GRCm39) E30K probably damaging Het
H2-DMb1 A T 17: 34,376,360 (GRCm39) S160C probably damaging Het
Hsdl2 GCAGCCACAGCTGCAG GCAGCCACAGCTGCAGCATCAGCCACAGCTGCAG 4: 59,610,643 (GRCm39) probably benign Het
Iqcf4 TTTCCTTTTCCTTTT TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTGTTCCTTTTCCTTTT 9: 106,447,808 (GRCm39) probably benign Het
Jag1 T A 2: 136,938,176 (GRCm39) T275S probably benign Het
Klhdc2 T A 12: 69,350,660 (GRCm39) I158K probably damaging Het
Krtap28-10 TCCC TCCCGCACCC 1: 83,019,844 (GRCm39) probably benign Het
Lrp2 T A 2: 69,339,549 (GRCm39) M1121L probably benign Het
M6pr C T 6: 122,292,124 (GRCm39) A152V probably damaging Het
Mapkapk5 T C 5: 121,671,379 (GRCm39) Y218C probably damaging Het
Mkrn1 C T 6: 39,396,925 (GRCm39) V26I Het
Mro CA CAAACTCGGA 18: 74,003,035 (GRCm39) probably null Het
Mrpl3 T C 9: 104,952,452 (GRCm39) V303A probably benign Het
Nefh CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,891,022 (GRCm39) probably benign Het
Nefh TCACCTGGGGACT TCACCTGGGGACTCGGCCCCACCTGGGGACT 11: 4,891,023 (GRCm39) probably benign Het
Nid2 GGCTAACACCGC GGC 14: 19,801,431 (GRCm39) probably benign Het
Nusap1 CAAGCTGAGA CAAGCTGAGATACACGTTAGCAGTGAGGAGAAAGCTGAGA 2: 119,458,082 (GRCm39) probably benign Het
Or10n7-ps1 A ATAGG 9: 39,598,050 (GRCm39) probably null Het
Or6d12 G T 6: 116,493,004 (GRCm39) A89S probably benign Het
Ovol1 A G 19: 5,603,640 (GRCm39) V87A probably benign Het
Pdpk1 T A 17: 24,312,255 (GRCm39) E290D probably benign Het
Pkd1l3 T A 8: 110,350,174 (GRCm39) S340T probably benign Het
Pknox2 ACACACACACACACACTCAC ACAC 9: 36,820,905 (GRCm39) probably benign Het
Pou3f1 GC GCGGCGCC 4: 124,551,602 (GRCm39) probably benign Het
Prp2 AGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC AGAGACCCCCTCAAGGCCCACCACC 6: 132,577,475 (GRCm39) probably benign Het
Prpf6 A G 2: 181,273,869 (GRCm39) M338V probably benign Het
Psg28 G T 7: 18,156,847 (GRCm39) L463I probably damaging Het
Ptprd T C 4: 76,046,892 (GRCm39) D211G probably benign Het
Pus1 T C 5: 110,924,424 (GRCm39) H160R not run Het
Ranbp17 T C 11: 33,279,511 (GRCm39) T582A probably damaging Het
Rasa1 G A 13: 85,371,607 (GRCm39) T878I possibly damaging Het
Rbm20 A G 19: 53,802,163 (GRCm39) T224A probably benign Het
Scgb1b12 A T 7: 32,033,920 (GRCm39) N60I probably damaging Het
Sh3bp4 T C 1: 89,072,744 (GRCm39) S531P probably benign Het
Sh3pxd2b TGCCTG TGCCTGCGCCTG 11: 32,373,053 (GRCm39) probably benign Het
Snrnp200 T C 2: 127,072,476 (GRCm39) L1291P probably damaging Het
Spmap2l CTCCCCAGTCCCGCAAGGCCAG CTCCCCAGTCCCGCAAGGCCAGCGATCATCCCCAGTCCCGCAAGGCCAG 5: 77,164,255 (GRCm39) probably benign Het
Sppl2a C T 2: 126,769,694 (GRCm39) R54Q probably benign Het
Sulf2 A T 2: 165,924,523 (GRCm39) L521Q probably benign Het
Supv3l1 C A 10: 62,273,287 (GRCm39) V317F possibly damaging Het
Tcof1 TCC TCCACTTGGCTGCTGAGATGGGCACTTTCCCAGAGACCC 18: 60,966,647 (GRCm39) probably benign Het
Trappc9 TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT TGCTGCTGCTGCTGCCGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT 15: 72,673,138 (GRCm39) probably benign Het
Unc13b CAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC CAGAGCCAGAGCCAGAGCGAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC 4: 43,177,347 (GRCm39) probably benign Het
Unc13b AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC AGCCAGAGCCAGAGCCAGCGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC 4: 43,177,350 (GRCm39) probably benign Het
Usp38 A G 8: 81,740,522 (GRCm39) S182P probably benign Het
Vmn2r24 T C 6: 123,781,174 (GRCm39) V460A probably benign Het
Wdr97 A T 15: 76,240,172 (GRCm39) I331F Het
Zfp598 CAACCAC CAACCACAACCAC 17: 24,899,745 (GRCm39) probably benign Het
Other mutations in Baz2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Baz2a APN 10 127,960,804 (GRCm39) missense probably benign 0.00
IGL00501:Baz2a APN 10 127,950,494 (GRCm39) missense probably benign 0.14
IGL00743:Baz2a APN 10 127,950,395 (GRCm39) missense probably benign
IGL01362:Baz2a APN 10 127,957,833 (GRCm39) missense probably damaging 0.98
IGL01394:Baz2a APN 10 127,954,514 (GRCm39) missense possibly damaging 0.46
IGL01603:Baz2a APN 10 127,947,037 (GRCm39) missense probably damaging 0.98
IGL02165:Baz2a APN 10 127,955,218 (GRCm39) missense probably benign 0.03
IGL02732:Baz2a APN 10 127,961,044 (GRCm39) missense possibly damaging 0.66
IGL03030:Baz2a APN 10 127,961,015 (GRCm39) missense possibly damaging 0.62
IGL03087:Baz2a APN 10 127,958,182 (GRCm39) missense probably damaging 0.99
R0255:Baz2a UTSW 10 127,950,508 (GRCm39) missense possibly damaging 0.66
R0737:Baz2a UTSW 10 127,951,949 (GRCm39) missense possibly damaging 0.92
R0742:Baz2a UTSW 10 127,949,535 (GRCm39) nonsense probably null
R0755:Baz2a UTSW 10 127,955,560 (GRCm39) missense possibly damaging 0.92
R0798:Baz2a UTSW 10 127,962,192 (GRCm39) splice site probably benign
R0879:Baz2a UTSW 10 127,957,173 (GRCm39) missense probably damaging 0.99
R1023:Baz2a UTSW 10 127,957,676 (GRCm39) missense possibly damaging 0.66
R1482:Baz2a UTSW 10 127,944,877 (GRCm39) missense possibly damaging 0.92
R1512:Baz2a UTSW 10 127,960,021 (GRCm39) missense possibly damaging 0.95
R1658:Baz2a UTSW 10 127,960,252 (GRCm39) missense probably benign 0.04
R1983:Baz2a UTSW 10 127,959,828 (GRCm39) missense probably benign 0.14
R2059:Baz2a UTSW 10 127,949,447 (GRCm39) missense probably damaging 0.98
R2141:Baz2a UTSW 10 127,959,481 (GRCm39) missense probably damaging 1.00
R2921:Baz2a UTSW 10 127,960,946 (GRCm39) frame shift probably null
R2922:Baz2a UTSW 10 127,960,946 (GRCm39) frame shift probably null
R3104:Baz2a UTSW 10 127,960,946 (GRCm39) frame shift probably null
R3105:Baz2a UTSW 10 127,960,946 (GRCm39) frame shift probably null
R3106:Baz2a UTSW 10 127,960,946 (GRCm39) frame shift probably null
R3621:Baz2a UTSW 10 127,960,946 (GRCm39) frame shift probably null
R3872:Baz2a UTSW 10 127,959,979 (GRCm39) missense probably damaging 1.00
R3873:Baz2a UTSW 10 127,959,979 (GRCm39) missense probably damaging 1.00
R3875:Baz2a UTSW 10 127,959,979 (GRCm39) missense probably damaging 1.00
R4600:Baz2a UTSW 10 127,957,052 (GRCm39) missense probably damaging 0.97
R4692:Baz2a UTSW 10 127,960,762 (GRCm39) missense probably damaging 1.00
R4717:Baz2a UTSW 10 127,960,811 (GRCm39) missense possibly damaging 0.83
R4821:Baz2a UTSW 10 127,946,978 (GRCm39) missense probably damaging 1.00
R4832:Baz2a UTSW 10 127,958,999 (GRCm39) missense probably benign 0.08
R4893:Baz2a UTSW 10 127,959,284 (GRCm39) missense possibly damaging 0.66
R4907:Baz2a UTSW 10 127,946,677 (GRCm39) missense probably damaging 0.99
R5133:Baz2a UTSW 10 127,951,995 (GRCm39) missense probably damaging 1.00
R5340:Baz2a UTSW 10 127,950,911 (GRCm39) missense probably damaging 1.00
R5527:Baz2a UTSW 10 127,960,786 (GRCm39) missense probably damaging 1.00
R5761:Baz2a UTSW 10 127,955,559 (GRCm39) missense possibly damaging 0.66
R5891:Baz2a UTSW 10 127,957,191 (GRCm39) missense probably damaging 1.00
R6088:Baz2a UTSW 10 127,950,511 (GRCm39) small deletion probably benign
R6089:Baz2a UTSW 10 127,950,511 (GRCm39) small deletion probably benign
R6323:Baz2a UTSW 10 127,962,286 (GRCm39) missense probably benign 0.21
R6894:Baz2a UTSW 10 127,959,450 (GRCm39) missense possibly damaging 0.81
R7101:Baz2a UTSW 10 127,957,056 (GRCm39) missense possibly damaging 0.66
R7178:Baz2a UTSW 10 127,960,326 (GRCm39) missense probably damaging 0.98
R7179:Baz2a UTSW 10 127,960,326 (GRCm39) missense probably damaging 0.98
R7202:Baz2a UTSW 10 127,954,428 (GRCm39) missense possibly damaging 0.54
R7223:Baz2a UTSW 10 127,948,475 (GRCm39) missense probably damaging 1.00
R7268:Baz2a UTSW 10 127,960,090 (GRCm39) missense possibly damaging 0.66
R7426:Baz2a UTSW 10 127,951,947 (GRCm39) missense probably damaging 1.00
R7464:Baz2a UTSW 10 127,957,942 (GRCm39) missense possibly damaging 0.81
R7568:Baz2a UTSW 10 127,961,139 (GRCm39) missense possibly damaging 0.83
R7672:Baz2a UTSW 10 127,959,726 (GRCm39) missense possibly damaging 0.90
R7948:Baz2a UTSW 10 127,961,194 (GRCm39) missense possibly damaging 0.94
R7993:Baz2a UTSW 10 127,961,491 (GRCm39) missense probably benign 0.27
R8013:Baz2a UTSW 10 127,961,161 (GRCm39) missense possibly damaging 0.92
R8013:Baz2a UTSW 10 127,961,157 (GRCm39) missense probably benign 0.09
R8274:Baz2a UTSW 10 127,957,716 (GRCm39) missense probably benign 0.04
R9034:Baz2a UTSW 10 127,952,268 (GRCm39) missense probably damaging 0.99
R9070:Baz2a UTSW 10 127,958,931 (GRCm39) missense probably benign 0.02
R9245:Baz2a UTSW 10 127,957,812 (GRCm39) missense probably benign
R9329:Baz2a UTSW 10 127,960,925 (GRCm39) missense possibly damaging 0.90
R9472:Baz2a UTSW 10 127,948,624 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCTGGAGCAAAATGTGGAGC -3'
(R):5'- CTGGACCATCGTGAAAAGGC -3'

Sequencing Primer
(F):5'- GAGAAGGCCCTACTGAGCAC -3'
(R):5'- GGCAGAGTGAGTCCTTAACCTAAC -3'
Posted On 2019-12-04