Incidental Mutation 'IGL01394:Baz2a'
ID 79369
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, Tip5, Walp3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01394
Quality Score
Status
Chromosome 10
Chromosomal Location 128091577-128129303 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128118645 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 723 (V723A)
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 probably benign
Transcript: ENSMUST00000045621
AA Change: V720A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000044359
Gene: ENSMUSG00000040054
AA Change: V720A

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 possibly damaging
Transcript: ENSMUST00000170054
AA Change: V721A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129803
Gene: ENSMUSG00000040054
AA Change: V721A

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 possibly damaging
Transcript: ENSMUST00000217851
AA Change: V723A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218772
Predicted Effect probably benign
Transcript: ENSMUST00000219072
AA Change: V720A

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219980
Predicted Effect probably benign
Transcript: ENSMUST00000220049
AA Change: V720A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik G A 7: 131,146,231 Q11* probably null Het
Acot5 T C 12: 84,075,488 I282T probably benign Het
Adcy2 A G 13: 68,982,402 V122A probably damaging Het
Aldh16a1 A C 7: 45,145,513 S511A probably benign Het
Arid3b T C 9: 57,795,034 E480G probably damaging Het
Bmpr1b A G 3: 141,862,981 probably null Het
Ccdc83 T C 7: 90,224,001 E382G probably damaging Het
Cfap46 A G 7: 139,666,979 Y349H probably damaging Het
Clpx T C 9: 65,310,213 V21A probably damaging Het
Clstn1 A G 4: 149,634,782 N356S possibly damaging Het
Ctnnd1 A G 2: 84,605,256 probably benign Het
Dock1 A G 7: 134,766,216 N505S probably benign Het
Eaf2 G A 16: 36,810,566 P82S probably damaging Het
Fbxw26 T C 9: 109,717,989 Y456C probably benign Het
Foxred2 T C 15: 77,955,620 T157A probably benign Het
Fscb A T 12: 64,473,804 I296K possibly damaging Het
Gad1-ps A G 10: 99,445,562 noncoding transcript Het
Golgb1 A G 16: 36,931,564 E3120G probably damaging Het
Ift140 A G 17: 25,094,702 D1369G probably benign Het
Kcnk13 T C 12: 100,061,662 V332A probably benign Het
Lama3 T A 18: 12,531,926 D661E probably null Het
Lum A T 10: 97,568,972 D243V probably damaging Het
Mgat4c A G 10: 102,385,114 T86A possibly damaging Het
Mpdz A T 4: 81,292,491 V1706D possibly damaging Het
Myrfl T C 10: 116,822,687 Q455R probably benign Het
Olfr420 T C 1: 174,158,857 F28S probably damaging Het
Olfr898 T A 9: 38,349,805 S241T possibly damaging Het
Papolg G A 11: 23,867,235 T654I probably benign Het
Pappa2 G A 1: 158,765,104 probably benign Het
Plekhh2 C T 17: 84,557,430 T82I probably benign Het
Prrc2a A G 17: 35,153,104 V1773A probably benign Het
Psmb8 G T 17: 34,200,729 V186L probably damaging Het
Rin3 T C 12: 102,373,603 V604A probably damaging Het
Rtn1 T C 12: 72,308,416 D252G probably benign Het
Sdk1 C T 5: 141,613,215 H212Y probably benign Het
Slc5a5 G T 8: 70,889,388 Y307* probably null Het
Slc9a9 T A 9: 95,123,037 L499Q probably benign Het
Snx8 C A 5: 140,352,179 G237V probably benign Het
Spata18 T A 5: 73,679,345 probably null Het
Stard9 A G 2: 120,706,327 E417G possibly damaging Het
Ubr5 T C 15: 38,009,631 D1034G possibly damaging Het
Upf2 A G 2: 6,040,213 probably null Het
Xrcc6 A G 15: 82,025,661 K89R possibly damaging Het
Yeats2 T C 16: 20,162,032 V237A probably damaging Het
Zdhhc6 A G 19: 55,309,892 W178R probably benign Het
Zfp280b C A 10: 76,039,663 Q459K probably damaging Het
Zfp811 C A 17: 32,797,820 K414N probably damaging Het
Other mutations in Baz2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Baz2a APN 10 128124935 missense probably benign 0.00
IGL00501:Baz2a APN 10 128114625 missense probably benign 0.14
IGL00743:Baz2a APN 10 128114526 missense probably benign
IGL01362:Baz2a APN 10 128121964 missense probably damaging 0.98
IGL01603:Baz2a APN 10 128111168 missense probably damaging 0.98
IGL02165:Baz2a APN 10 128119349 missense probably benign 0.03
IGL02732:Baz2a APN 10 128125175 missense possibly damaging 0.66
IGL03030:Baz2a APN 10 128125146 missense possibly damaging 0.62
IGL03087:Baz2a APN 10 128122313 missense probably damaging 0.99
R0255:Baz2a UTSW 10 128114639 missense possibly damaging 0.66
R0737:Baz2a UTSW 10 128116080 missense possibly damaging 0.92
R0742:Baz2a UTSW 10 128113666 nonsense probably null
R0755:Baz2a UTSW 10 128119691 missense possibly damaging 0.92
R0798:Baz2a UTSW 10 128126323 splice site probably benign
R0879:Baz2a UTSW 10 128121304 missense probably damaging 0.99
R1023:Baz2a UTSW 10 128121807 missense possibly damaging 0.66
R1482:Baz2a UTSW 10 128109008 missense possibly damaging 0.92
R1512:Baz2a UTSW 10 128124152 missense possibly damaging 0.95
R1658:Baz2a UTSW 10 128124383 missense probably benign 0.04
R1983:Baz2a UTSW 10 128123959 missense probably benign 0.14
R2059:Baz2a UTSW 10 128113578 missense probably damaging 0.98
R2141:Baz2a UTSW 10 128123612 missense probably damaging 1.00
R2921:Baz2a UTSW 10 128125077 frame shift probably null
R2922:Baz2a UTSW 10 128125077 frame shift probably null
R3104:Baz2a UTSW 10 128125077 frame shift probably null
R3105:Baz2a UTSW 10 128125077 frame shift probably null
R3106:Baz2a UTSW 10 128125077 frame shift probably null
R3621:Baz2a UTSW 10 128125077 frame shift probably null
R3872:Baz2a UTSW 10 128124110 missense probably damaging 1.00
R3873:Baz2a UTSW 10 128124110 missense probably damaging 1.00
R3875:Baz2a UTSW 10 128124110 missense probably damaging 1.00
R4600:Baz2a UTSW 10 128121183 missense probably damaging 0.97
R4692:Baz2a UTSW 10 128124893 missense probably damaging 1.00
R4717:Baz2a UTSW 10 128124942 missense possibly damaging 0.83
R4821:Baz2a UTSW 10 128111109 missense probably damaging 1.00
R4832:Baz2a UTSW 10 128123130 missense probably benign 0.08
R4893:Baz2a UTSW 10 128123415 missense possibly damaging 0.66
R4907:Baz2a UTSW 10 128110808 missense probably damaging 0.99
R5133:Baz2a UTSW 10 128116126 missense probably damaging 1.00
R5340:Baz2a UTSW 10 128115042 missense probably damaging 1.00
R5527:Baz2a UTSW 10 128124917 missense probably damaging 1.00
R5761:Baz2a UTSW 10 128119690 missense possibly damaging 0.66
R5891:Baz2a UTSW 10 128121322 missense probably damaging 1.00
R6088:Baz2a UTSW 10 128114642 small deletion probably benign
R6089:Baz2a UTSW 10 128114642 small deletion probably benign
R6323:Baz2a UTSW 10 128126417 missense probably benign 0.21
R6894:Baz2a UTSW 10 128123581 missense possibly damaging 0.81
R7101:Baz2a UTSW 10 128121187 missense possibly damaging 0.66
R7178:Baz2a UTSW 10 128124457 missense probably damaging 0.98
R7179:Baz2a UTSW 10 128124457 missense probably damaging 0.98
R7202:Baz2a UTSW 10 128118559 missense possibly damaging 0.54
R7223:Baz2a UTSW 10 128112606 missense probably damaging 1.00
R7268:Baz2a UTSW 10 128124221 missense possibly damaging 0.66
R7426:Baz2a UTSW 10 128116078 missense probably damaging 1.00
R7464:Baz2a UTSW 10 128122073 missense possibly damaging 0.81
R7568:Baz2a UTSW 10 128125270 missense possibly damaging 0.83
R7672:Baz2a UTSW 10 128123857 missense possibly damaging 0.90
R7948:Baz2a UTSW 10 128125325 missense possibly damaging 0.94
R7993:Baz2a UTSW 10 128125622 missense probably benign 0.27
R8013:Baz2a UTSW 10 128125288 missense probably benign 0.09
R8013:Baz2a UTSW 10 128125292 missense possibly damaging 0.92
R8274:Baz2a UTSW 10 128121847 missense probably benign 0.04
R9034:Baz2a UTSW 10 128116399 missense probably damaging 0.99
R9070:Baz2a UTSW 10 128123062 missense probably benign 0.02
R9245:Baz2a UTSW 10 128121943 missense probably benign
R9329:Baz2a UTSW 10 128125056 missense possibly damaging 0.90
R9472:Baz2a UTSW 10 128112755 missense probably benign 0.00
RF016:Baz2a UTSW 10 128125316 missense probably benign 0.07
Posted On 2013-11-05