Incidental Mutation 'R6089:Baz2a'
ID 484669
Institutional Source Beutler Lab
Gene Symbol Baz2a
Ensembl Gene ENSMUSG00000040054
Gene Name bromodomain adjacent to zinc finger domain, 2A
Synonyms C030005G16Rik, Walp3, Tip5
MMRRC Submission 044246-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6089 (G1)
Quality Score 217.468
Status Not validated
Chromosome 10
Chromosomal Location 127927453-127965172 bp(+) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) TCTCCTC to TCTC at 127950511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045621] [ENSMUST00000170054] [ENSMUST00000217851] [ENSMUST00000219072] [ENSMUST00000220049]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000045621
SMART Domains Protein: ENSMUSP00000044359
Gene: ENSMUSG00000040054

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
SMART Domains Protein: ENSMUSP00000129803
Gene: ENSMUSG00000040054

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218772
Predicted Effect probably benign
Transcript: ENSMUST00000219072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219082
Predicted Effect probably benign
Transcript: ENSMUST00000220049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219980
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 A G 1: 125,335,132 (GRCm39) V95A probably damaging Het
Ankrd40 A T 11: 94,224,751 (GRCm39) K53N probably damaging Het
Ash1l C T 3: 88,960,450 (GRCm39) Q2338* probably null Het
Astn2 A G 4: 65,712,810 (GRCm39) F610S probably damaging Het
Btbd8 C T 5: 107,654,895 (GRCm39) A386V probably damaging Het
Calm4 A T 13: 3,887,874 (GRCm39) probably benign Het
Card10 T C 15: 78,686,614 (GRCm39) T68A probably benign Het
Cars2 A G 8: 11,580,301 (GRCm39) M245T probably damaging Het
Cat C A 2: 103,303,296 (GRCm39) L160F probably null Het
Cers5 G T 15: 99,638,883 (GRCm39) T144K probably benign Het
Cyp3a13 T A 5: 137,908,215 (GRCm39) L211F probably benign Het
Defb4 A T 8: 19,251,321 (GRCm39) R63* probably null Het
Dnah14 G T 1: 181,577,719 (GRCm39) W3012L probably damaging Het
Dusp18 A G 11: 3,847,555 (GRCm39) T182A probably benign Het
Dzip1l C A 9: 99,524,737 (GRCm39) T286K possibly damaging Het
Eif2ak3 A T 6: 70,873,918 (GRCm39) T944S possibly damaging Het
Fbn1 A T 2: 125,163,145 (GRCm39) I2119N possibly damaging Het
Gabbr2 A G 4: 46,846,448 (GRCm39) S154P probably damaging Het
Gm15440 A T 13: 51,845,437 (GRCm39) H107Q unknown Het
Grm2 G A 9: 106,531,090 (GRCm39) P133L probably damaging Het
Gsdme A G 6: 50,228,285 (GRCm39) V61A probably damaging Het
Gtpbp1 A G 15: 79,591,198 (GRCm39) T23A probably benign Het
Helz A T 11: 107,485,963 (GRCm39) probably null Het
Herc1 A C 9: 66,352,814 (GRCm39) H2100P probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Ifngr1 T C 10: 19,482,048 (GRCm39) S213P probably benign Het
Itgb7 T C 15: 102,125,721 (GRCm39) D636G probably benign Het
Mre11a G A 9: 14,730,760 (GRCm39) D491N probably benign Het
Muc16 A G 9: 18,554,548 (GRCm39) L3915P unknown Het
Myh1 T A 11: 67,092,993 (GRCm39) probably null Het
Myh1 T G 11: 67,111,613 (GRCm39) probably null Het
Myh7b C T 2: 155,464,409 (GRCm39) T608M probably damaging Het
Myof T C 19: 37,955,508 (GRCm39) K23E probably benign Het
Nacad A G 11: 6,551,331 (GRCm39) V620A probably benign Het
Pbrm1 T C 14: 30,809,542 (GRCm39) Y1121H probably damaging Het
Pcdha9 T C 18: 37,131,551 (GRCm39) F207L probably benign Het
Pcdhb10 T C 18: 37,546,679 (GRCm39) V585A possibly damaging Het
Pigg A T 5: 108,489,788 (GRCm39) M798L probably benign Het
Poc5 G T 13: 96,533,179 (GRCm39) M102I probably damaging Het
Ppp2r3d T A 9: 101,088,835 (GRCm39) Q496L probably benign Het
Ptprf A G 4: 118,068,281 (GRCm39) Y1752H probably damaging Het
Ptpru G C 4: 131,499,941 (GRCm39) S1244R possibly damaging Het
Rnf213 A G 11: 119,307,385 (GRCm39) K682E probably benign Het
Rtp3 T C 9: 110,816,041 (GRCm39) D170G probably benign Het
Sall4 T C 2: 168,597,406 (GRCm39) D478G possibly damaging Het
Scai A T 2: 38,973,566 (GRCm39) Y58* probably null Het
Simc1 G A 13: 54,676,303 (GRCm39) V1007M probably benign Het
Tcf20 G T 15: 82,737,409 (GRCm39) D1347E probably benign Het
Tdo2 T C 3: 81,870,035 (GRCm39) Y279C probably damaging Het
Trdn C T 10: 33,340,571 (GRCm39) P602S probably benign Het
Txndc5 A T 13: 38,707,392 (GRCm39) M1K probably null Het
Ubr2 A C 17: 47,293,218 (GRCm39) M356R possibly damaging Het
Uqcrc2 A T 7: 120,253,232 (GRCm39) D332V probably damaging Het
Usp48 T C 4: 137,333,129 (GRCm39) F108L probably damaging Het
Vill A G 9: 118,886,867 (GRCm39) N4S probably benign Het
Vmn1r11 T C 6: 57,114,645 (GRCm39) V103A possibly damaging Het
Vmn2r98 A G 17: 19,286,336 (GRCm39) D278G probably benign Het
Vps35l T G 7: 118,345,658 (GRCm39) S59A possibly damaging Het
Wfdc15a A T 2: 164,041,586 (GRCm39) L79* probably null Het
Xxylt1 C T 16: 30,899,799 (GRCm39) V119M probably damaging Het
Zfp26 G T 9: 20,348,989 (GRCm39) A525D probably damaging Het
Zgrf1 G A 3: 127,389,642 (GRCm39) G396D probably damaging Het
Zkscan16 A G 4: 58,948,889 (GRCm39) D148G possibly damaging Het
Zscan26 G T 13: 21,632,499 (GRCm39) S77R probably damaging 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
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
RF016:Baz2a UTSW 10 127,961,185 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- GTACTCAACTACATCCAGCAGTTTC -3'
(R):5'- CCATATGTGACATGTGCTTCTG -3'

Sequencing Primer
(F):5'- TCCAGCAGTTTCACCAACAG -3'
(R):5'- TGACATGTGCTTCTGTAGAGAAC -3'
Posted On 2017-08-16