Incidental Mutation 'R6088:Baz2a'
ID 486101
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 044245-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6088 (G1)
Quality Score 217.468
Status 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: 97.7%
  • 20x: 92.9%
Validation Efficiency 98% (59/60)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 G T 18: 59,035,174 (GRCm39) V360F probably damaging Het
Ankrd17 C T 5: 90,401,547 (GRCm39) E1605K possibly damaging Het
Arid4a A G 12: 71,069,010 (GRCm39) D54G probably damaging Het
Bltp3a G A 17: 28,103,579 (GRCm39) probably null Het
Card6 A T 15: 5,134,501 (GRCm39) V234E possibly damaging Het
Cd1d1 G T 3: 86,906,009 (GRCm39) Q89K probably benign Het
Ciita G A 16: 10,329,795 (GRCm39) R693K probably damaging Het
Cox7a2l G T 17: 83,811,401 (GRCm39) L77I probably benign Het
Crybg2 A T 4: 133,803,101 (GRCm39) probably null Het
Cts8 T C 13: 61,401,780 (GRCm39) N39S probably benign Het
Def8 G T 8: 124,186,787 (GRCm39) E456* probably null Het
Dld A G 12: 31,390,988 (GRCm39) F153L probably benign Het
Elf1 C T 14: 79,804,701 (GRCm39) T122I probably benign Het
Emilin2 T C 17: 71,562,119 (GRCm39) N961S probably benign Het
Esp24 A G 17: 39,350,901 (GRCm39) I34V probably benign Het
Fam184b C A 5: 45,741,354 (GRCm39) K292N probably damaging Het
Gabrg3 T A 7: 56,634,826 (GRCm39) N119I probably damaging Het
Gucy1b1 T C 3: 81,942,187 (GRCm39) H524R probably damaging Het
Kcp A T 6: 29,502,631 (GRCm39) S205T probably benign Het
Klb C T 5: 65,506,356 (GRCm39) T201M probably benign Het
Lamp3 A T 16: 19,492,148 (GRCm39) F365L probably damaging Het
Mad1l1 T A 5: 140,179,718 (GRCm39) H390L probably benign Het
Mlxipl T C 5: 135,162,884 (GRCm39) Y711H possibly damaging Het
Myo5b T A 18: 74,853,969 (GRCm39) L1196Q possibly damaging Het
Ndufb8 A G 19: 44,543,464 (GRCm39) S70P probably benign Het
Neb T C 2: 52,099,354 (GRCm39) D4832G probably damaging Het
Niban2 T C 2: 32,813,135 (GRCm39) V540A probably damaging Het
Nr5a1 T C 2: 38,592,007 (GRCm39) D322G probably benign Het
Or1e1d-ps1 A T 11: 73,819,649 (GRCm39) T273S probably benign Het
Or5ak20 T A 2: 85,183,698 (GRCm39) S191C probably damaging Het
Oscar G A 7: 3,614,311 (GRCm39) P143S probably benign Het
Oxa1l T A 14: 54,605,151 (GRCm39) probably null Het
Pafah2 A G 4: 134,140,692 (GRCm39) I221V probably benign Het
Pibf1 T A 14: 99,416,794 (GRCm39) F456I probably benign Het
Pla2g4d C T 2: 120,100,487 (GRCm39) G615D probably damaging Het
Plekhg2 C T 7: 28,060,438 (GRCm39) V964I probably benign Het
Ppip5k1 C A 2: 121,167,944 (GRCm39) V770L probably benign Het
Ppl A T 16: 4,922,852 (GRCm39) L213Q possibly damaging Het
Ptprf G A 4: 118,067,952 (GRCm39) T1785I possibly damaging Het
Pycr2 G A 1: 180,733,801 (GRCm39) G131E probably damaging Het
Rbpj C T 5: 53,808,710 (GRCm39) probably null Het
Rcc1 G T 4: 132,060,153 (GRCm39) D430E probably benign Het
Rhbdf1 A G 11: 32,162,007 (GRCm39) V525A possibly damaging Het
Samd7 G A 3: 30,810,632 (GRCm39) M216I probably benign Het
Ska3 A T 14: 58,054,151 (GRCm39) D266E probably benign Het
Slc1a7 G A 4: 107,869,641 (GRCm39) V569M probably damaging Het
Slc26a1 C T 5: 108,821,872 (GRCm39) E6K possibly damaging Het
Slc4a4 T A 5: 89,345,563 (GRCm39) V741E probably benign Het
St6galnac3 C T 3: 152,912,352 (GRCm39) G164S probably damaging Het
Tgs1 T A 4: 3,595,383 (GRCm39) N517K probably benign Het
Tns4 A G 11: 98,964,546 (GRCm39) S522P probably damaging Het
Trpm1 A T 7: 63,917,724 (GRCm39) M355L probably damaging Het
Trpm8 G A 1: 88,234,400 (GRCm39) probably benign Het
V1ra8 T C 6: 90,180,082 (GRCm39) F95S probably damaging Het
Zfp521 A C 18: 13,979,166 (GRCm39) S416A possibly damaging Het
Zfp574 T A 7: 24,779,764 (GRCm39) V262E probably benign Het
Zfp740 T A 15: 102,117,243 (GRCm39) I77N probably damaging Het
Zscan18 A T 7: 12,509,125 (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
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
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