Incidental Mutation 'IGL01362:Baz2a'
ID 75803
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01362
Quality Score
Status
Chromosome 10
Chromosomal Location 127927453-127965172 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 127957833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 1062 (G1062D)
Ref Sequence ENSEMBL: ENSMUSP00000151445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045621] [ENSMUST00000170054] [ENSMUST00000217851] [ENSMUST00000219072] [ENSMUST00000220049]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000045621
AA Change: G1059D

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000044359
Gene: ENSMUSG00000040054
AA Change: G1059D

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: G1060D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129803
Gene: ENSMUSG00000040054
AA Change: G1060D

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: G1062D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000219072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219980
Predicted Effect possibly damaging
Transcript: ENSMUST00000220049
AA Change: G1059D

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T A 8: 87,261,322 (GRCm39) D733V probably benign Het
Bmp8a C A 4: 123,207,094 (GRCm39) R389L probably damaging Het
Ccdc148 A G 2: 58,719,811 (GRCm39) V488A probably benign Het
Cdh24 T C 14: 54,875,889 (GRCm39) I227V probably benign Het
Dnah6 A G 6: 73,069,161 (GRCm39) F2509L probably damaging Het
Dusp1 A G 17: 26,725,618 (GRCm39) I247T probably benign Het
Erich6 G A 3: 58,529,781 (GRCm39) probably null Het
Fam186b T C 15: 99,178,199 (GRCm39) T376A probably benign Het
Gbp9 T C 5: 105,228,072 (GRCm39) E570G probably damaging Het
Gm5117 G T 8: 32,227,947 (GRCm39) noncoding transcript Het
Gpr37l1 A G 1: 135,089,216 (GRCm39) V283A probably benign Het
Heatr5b A G 17: 79,123,767 (GRCm39) probably benign Het
Ifit1bl2 G A 19: 34,596,884 (GRCm39) T244I probably benign Het
Mcoln1 T C 8: 3,557,558 (GRCm39) V188A possibly damaging Het
Mon1a T C 9: 107,779,883 (GRCm39) L484P probably damaging Het
Mrgprg T A 7: 143,318,806 (GRCm39) D102V probably damaging Het
Mto1 T A 9: 78,360,056 (GRCm39) S181R probably benign Het
Myh11 C T 16: 14,095,586 (GRCm39) V59I probably benign Het
Myo7a G A 7: 97,746,909 (GRCm39) T163I probably damaging Het
Nr4a3 A C 4: 48,051,586 (GRCm39) Q142H possibly damaging Het
Or14c41 A T 7: 86,234,647 (GRCm39) T55S possibly damaging Het
Or2a14 A G 6: 43,130,569 (GRCm39) E110G probably damaging Het
Or2y15 A G 11: 49,351,270 (GRCm39) I255V probably benign Het
Or8b8 A G 9: 37,809,359 (GRCm39) I220V probably benign Het
Pkd1l2 A G 8: 117,748,595 (GRCm39) S1859P probably damaging Het
Pkhd1l1 A G 15: 44,396,378 (GRCm39) T1967A probably benign Het
Plppr3 C T 10: 79,701,795 (GRCm39) R349Q probably damaging Het
Ppp2r5d A G 17: 46,996,443 (GRCm39) probably null Het
Prl2c2 C T 13: 13,176,828 (GRCm39) C33Y probably damaging Het
Prl3d2 T A 13: 27,306,438 (GRCm39) L55* probably null Het
Ralgapb C T 2: 158,277,385 (GRCm39) R250C probably damaging Het
Scamp3 C T 3: 89,086,441 (GRCm39) P63S probably benign Het
Slc22a6 A G 19: 8,598,572 (GRCm39) I210V possibly damaging Het
Stard13 T A 5: 151,113,417 (GRCm39) H48L probably benign Het
Tm6sf2 G A 8: 70,530,565 (GRCm39) R215H probably damaging Het
Twist2 T C 1: 91,729,650 (GRCm39) L101P probably damaging Het
Uvrag A G 7: 98,537,720 (GRCm39) S492P probably benign Het
Zan T C 5: 137,450,712 (GRCm39) T1622A unknown Het
Zswim2 T A 2: 83,745,690 (GRCm39) T583S 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
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
RF016:Baz2a UTSW 10 127,961,185 (GRCm39) missense probably benign 0.07
Posted On 2013-10-07