Incidental Mutation 'R7178:Baz2a'
ID 558783
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 045232-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7178 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 127927453-127965172 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 127960326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 1514 (R1514W)
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 probably damaging
Transcript: ENSMUST00000045621
AA Change: R1511W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044359
Gene: ENSMUSG00000040054
AA Change: R1511W

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 damaging
Transcript: ENSMUST00000170054
AA Change: R1512W

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129803
Gene: ENSMUSG00000040054
AA Change: R1512W

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 damaging
Transcript: ENSMUST00000217851
AA Change: R1514W

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000220049
AA Change: R1511W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.5508 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 A G 9: 54,535,745 (GRCm39) I130T possibly damaging Het
Adam24 T A 8: 41,133,039 (GRCm39) L169* probably null Het
Als2 A T 1: 59,246,971 (GRCm39) I556N probably damaging Het
Ankrd44 A T 1: 54,688,599 (GRCm39) N212K Het
Anpep T C 7: 79,490,736 (GRCm39) D260G probably benign Het
Arhgap17 A T 7: 122,884,581 (GRCm39) probably null Het
Atad2 C T 15: 57,980,689 (GRCm39) R383Q probably damaging Het
Atp11b T A 3: 35,874,099 (GRCm39) M696K probably benign Het
Atp13a2 A G 4: 140,726,462 (GRCm39) T350A probably damaging Het
Atp8b2 T C 3: 89,850,979 (GRCm39) D29G possibly damaging Het
Cep250 T A 2: 155,815,375 (GRCm39) L631* probably null Het
Cimip2a G A 2: 25,110,252 (GRCm39) V55I probably damaging Het
Clec4a3 T C 6: 122,941,251 (GRCm39) I82T probably benign Het
Csmd3 T A 15: 47,454,170 (GRCm39) I2648F Het
Cul5 A G 9: 53,555,826 (GRCm39) F247L probably benign Het
Dnajc24 A T 2: 105,800,807 (GRCm39) M101K probably damaging Het
Dnhd1 T A 7: 105,344,200 (GRCm39) V1848E probably damaging Het
Dspp A G 5: 104,321,932 (GRCm39) T14A probably benign Het
Gm7298 T G 6: 121,762,855 (GRCm39) I1392S probably damaging Het
Gm9955 A T 18: 24,842,220 (GRCm39) S62R unknown Het
Gtsf1 T G 15: 103,328,388 (GRCm39) N130T probably benign Het
Heatr5a C A 12: 51,971,925 (GRCm39) S755I probably damaging Het
Hrc A G 7: 44,985,685 (GRCm39) T279A possibly damaging Het
Hvcn1 T C 5: 122,371,573 (GRCm39) W38R probably damaging Het
Hyal6 A G 6: 24,734,834 (GRCm39) S256G probably benign Het
Insyn2b G T 11: 34,352,359 (GRCm39) V134F probably damaging Het
Ipo13 A G 4: 117,761,081 (GRCm39) S546P possibly damaging Het
Katnip T C 7: 125,465,499 (GRCm39) V1317A probably benign Het
Kif24 A G 4: 41,395,085 (GRCm39) V730A probably benign Het
L3mbtl2 T C 15: 81,555,275 (GRCm39) V176A probably benign Het
Lgi1 T C 19: 38,294,733 (GRCm39) Y502H probably damaging Het
Liph T A 16: 21,795,078 (GRCm39) D178V probably damaging Het
Maea T C 5: 33,515,854 (GRCm39) V47A probably damaging Het
Mak16 A C 8: 31,656,602 (GRCm39) S42A probably benign Het
Mamdc4 T C 2: 25,458,977 (GRCm39) I269V probably benign Het
Mapk8ip3 A T 17: 25,120,728 (GRCm39) M812K probably benign Het
Muc4 T A 16: 32,752,788 (GRCm38) S889T unknown Het
Npy6r A G 18: 44,409,551 (GRCm39) N324S probably damaging Het
Ntrk3 T G 7: 78,005,895 (GRCm39) T489P possibly damaging Het
Or52a5b G A 7: 103,417,182 (GRCm39) Q141* probably null Het
Or5h19 T A 16: 58,856,296 (GRCm39) D268V probably benign Het
Or5t17 G A 2: 86,832,879 (GRCm39) V189I probably benign Het
Otof G C 5: 30,540,878 (GRCm39) T887S possibly damaging Het
Papola T C 12: 105,773,443 (GRCm39) V154A probably damaging Het
Pde4dip T C 3: 97,622,946 (GRCm39) H1421R probably benign Het
Plpp5 T C 8: 26,210,606 (GRCm39) S66P probably benign Het
Ppp6r3 T A 19: 3,568,337 (GRCm39) I154L probably benign Het
Prr18 A C 17: 8,560,741 (GRCm39) D299A possibly damaging Het
Psmb1 G A 17: 15,697,521 (GRCm39) S198F possibly damaging Het
Qars1 T C 9: 108,392,322 (GRCm39) V723A possibly damaging Het
Rab6a A T 7: 100,285,959 (GRCm39) R185* probably null Het
Scn2a C T 2: 65,579,197 (GRCm39) Q1511* probably null Het
Serpinb3d T A 1: 107,008,506 (GRCm39) I120F possibly damaging Het
Serpini2 T C 3: 75,165,455 (GRCm39) T175A probably damaging Het
Skic2 T C 17: 35,058,440 (GRCm39) T1226A probably benign Het
Slc17a6 A G 7: 51,317,259 (GRCm39) I427V possibly damaging Het
Slc2a2 C T 3: 28,773,631 (GRCm39) A312V possibly damaging Het
Snx33 C T 9: 56,833,151 (GRCm39) R306H probably damaging Het
Spcs1 G A 14: 30,722,438 (GRCm39) S127F possibly damaging Het
Speg T C 1: 75,399,027 (GRCm39) V2158A possibly damaging Het
Sptbn4 T A 7: 27,117,481 (GRCm39) I423F probably damaging Het
Synj2 T A 17: 6,076,754 (GRCm39) I930N possibly damaging Het
Tas2r140 T A 6: 133,032,623 (GRCm39) D45V probably damaging Het
Tcf3 C A 10: 80,257,433 (GRCm39) V11F unknown Het
Tead1 A T 7: 112,441,144 (GRCm39) Q91L probably benign Het
Tgm5 T A 2: 120,916,249 (GRCm39) probably benign Het
Tgoln1 C T 6: 72,593,028 (GRCm39) G151S probably benign Het
Tnfrsf11a C A 1: 105,755,264 (GRCm39) N445K probably benign Het
Ttn G C 2: 76,540,514 (GRCm39) F34157L probably benign Het
Vmn2r91 C A 17: 18,356,424 (GRCm39) P697Q probably damaging Het
Zeb2 G A 2: 44,887,006 (GRCm39) L684F probably damaging Het
Zfp661 T C 2: 127,419,456 (GRCm39) D228G probably benign Het
Zfp738 T C 13: 67,821,147 (GRCm39) K77E probably damaging Het
Zkscan1 T A 5: 138,099,192 (GRCm39) D378E probably damaging Het
Zswim9 T A 7: 12,993,924 (GRCm39) D744V possibly 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
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
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'- CTGACCTAGAGAAGCTGCCATC -3'
(R):5'- AAGACACCAAGGCTTGTCC -3'

Sequencing Primer
(F):5'- GAGAAGCTGCCATCATTTATAGACC -3'
(R):5'- ACGTCATGGGGTTCACAATC -3'
Posted On 2019-06-26