Incidental Mutation 'R2141:Baz2a'
ID 236275
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 040144-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2141 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 127927453-127965172 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127959481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1329 (D1329G)
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 damaging
Transcript: ENSMUST00000045621
AA Change: D1329G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000044359
Gene: ENSMUSG00000040054
AA Change: D1329G

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: D1330G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129803
Gene: ENSMUSG00000040054
AA Change: D1330G

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: D1332G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000219072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219980
Predicted Effect probably damaging
Transcript: ENSMUST00000220049
AA Change: D1329G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.0625 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 97% (107/110)
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik G T 11: 58,314,752 (GRCm39) C150F probably damaging Het
Aagab T A 9: 63,523,957 (GRCm39) probably null Het
Abca15 A C 7: 120,006,697 (GRCm39) T1654P probably damaging Het
Abca17 T A 17: 24,553,240 (GRCm39) Y157F probably benign Het
Aftph A T 11: 20,648,318 (GRCm39) L813* probably null Het
Agap1 T C 1: 89,765,477 (GRCm39) I615T probably damaging Het
Ak3 T G 19: 29,000,247 (GRCm39) Q221H probably benign Het
Aldoa A G 7: 126,396,814 (GRCm39) probably null Het
Anxa8 T C 14: 33,813,873 (GRCm39) probably null Het
Atpsckmt T C 15: 31,609,718 (GRCm39) F146L probably benign Het
Calhm6 G T 10: 34,003,691 (GRCm39) A72E probably damaging Het
Capn9 G A 8: 125,332,450 (GRCm39) G430R possibly damaging Het
Cd55 C T 1: 130,377,160 (GRCm39) V333I probably benign Het
Cep70 A G 9: 99,178,438 (GRCm39) Y512C probably damaging Het
Cfhr2 T G 1: 139,758,893 (GRCm39) R52S probably benign Het
Clcn6 A G 4: 148,108,594 (GRCm39) F145S possibly damaging Het
Cnksr1 A G 4: 133,956,939 (GRCm39) Y488H probably damaging Het
Diablo A G 5: 123,661,424 (GRCm39) V24A probably benign Het
Dnah7b T A 1: 46,307,830 (GRCm39) M3048K probably damaging Het
Dsel T C 1: 111,787,187 (GRCm39) N1116S probably benign Het
Efnb1 A G X: 98,191,123 (GRCm39) Y343C probably damaging Het
Esco1 A G 18: 10,574,873 (GRCm39) probably null Het
Fancd2 A G 6: 113,526,282 (GRCm39) N335S probably benign Het
Flnc A G 6: 29,448,674 (GRCm39) Y1304C probably damaging Het
Fubp3 A G 2: 31,490,569 (GRCm39) probably benign Het
Gemin4 G C 11: 76,101,876 (GRCm39) P962A probably damaging Het
Gjc3 A C 5: 137,955,808 (GRCm39) L159R probably damaging Het
Gli1 A G 10: 127,172,596 (GRCm39) L182P probably damaging Het
Gm21957 G T 7: 124,818,625 (GRCm39) noncoding transcript Het
Gm28040 AGTG AGTGGCACCTTTGGTG 1: 133,255,059 (GRCm39) probably benign Het
Gm5885 A G 6: 133,506,238 (GRCm39) noncoding transcript Het
Gon4l A T 3: 88,794,902 (GRCm39) T402S possibly damaging Het
Gprasp1 G A X: 134,702,791 (GRCm39) E995K possibly damaging Het
Gvin-ps5 T A 7: 105,929,163 (GRCm39) T245S probably damaging Het
Helb A T 10: 119,941,926 (GRCm39) M254K possibly damaging Het
Ift20 G A 11: 78,430,860 (GRCm39) E68K probably damaging Het
Igfn1 AGGG AGG 1: 135,902,590 (GRCm39) probably benign Het
Impdh2 A G 9: 108,442,546 (GRCm39) E305G possibly damaging Het
Ints7 T A 1: 191,336,972 (GRCm39) C351S possibly damaging Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Ipo9 A G 1: 135,329,988 (GRCm39) V484A probably benign Het
Kcnq3 T C 15: 65,867,700 (GRCm39) M648V probably benign Het
Kctd16 A G 18: 40,392,231 (GRCm39) E273G possibly damaging Het
Kif18a T A 2: 109,163,848 (GRCm39) N732K probably benign Het
Kif21b C T 1: 136,080,002 (GRCm39) R513W probably damaging Het
Klhl36 T C 8: 120,603,511 (GRCm39) C589R possibly damaging Het
Lck A G 4: 129,442,713 (GRCm39) Y481H probably damaging Het
Lmtk2 A G 5: 144,084,433 (GRCm39) Y156C probably damaging Het
Mical3 A T 6: 121,008,095 (GRCm39) probably null Het
Mki67 A G 7: 135,297,321 (GRCm39) I2571T possibly damaging Het
Mx2 G A 16: 97,339,903 (GRCm39) E20K probably benign Het
Myo10 A G 15: 25,714,194 (GRCm39) E87G probably benign Het
Myo18b T C 5: 113,021,892 (GRCm39) K500R probably benign Het
N4bp2l2 A T 5: 150,571,001 (GRCm39) I458N probably damaging Het
Nat10 T C 2: 103,561,648 (GRCm39) probably null Het
Nfasc G A 1: 132,524,383 (GRCm39) P932L probably damaging Het
Nipa1 C A 7: 55,647,259 (GRCm39) probably null Het
Nkpd1 A G 7: 19,258,162 (GRCm39) Q647R probably damaging Het
Nlrc4 T A 17: 74,754,946 (GRCm39) probably benign Het
Nmbr C A 10: 14,646,186 (GRCm39) Y353* probably null Het
Nos1ap T A 1: 170,156,735 (GRCm39) D241V probably damaging Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Optc A T 1: 133,831,534 (GRCm39) probably null Het
Or4f4b A T 2: 111,313,975 (GRCm39) T95S probably benign Het
Or5d43 A G 2: 88,105,354 (GRCm39) V13A probably benign Het
Or5m13 A G 2: 85,749,171 (GRCm39) I301V probably null Het
Or6c201 A G 10: 128,968,875 (GRCm39) I254T probably benign Het
Pank1 G A 19: 34,856,380 (GRCm39) R33C possibly damaging Het
Pcmtd1 C T 1: 7,239,789 (GRCm39) R77C probably damaging Het
Phkg2 G A 7: 127,181,386 (GRCm39) probably null Het
Plcb4 G A 2: 135,818,019 (GRCm39) V762M probably damaging Het
Pramel7 T A 2: 87,320,321 (GRCm39) H324L probably damaging Het
Prelp C T 1: 133,842,869 (GRCm39) R92K probably benign Het
Ptgr3 T C 18: 84,112,668 (GRCm39) Y115H probably benign Het
Rai1 C A 11: 60,080,293 (GRCm39) S1452R possibly damaging Het
Ren1 C G 1: 133,278,516 (GRCm39) probably null Het
Rev3l T C 10: 39,724,045 (GRCm39) V785A probably benign Het
Ro60 T C 1: 143,635,772 (GRCm39) D458G probably benign Het
Rufy2 G T 10: 62,826,773 (GRCm39) R104L probably damaging Het
Senp6 T A 9: 80,031,102 (GRCm39) N8K probably damaging Het
Septin4 A T 11: 87,474,262 (GRCm39) Q60L probably benign Het
Sipa1l2 G A 8: 126,218,230 (GRCm39) P369L probably benign Het
Slc43a1 T C 2: 84,671,305 (GRCm39) L37P probably damaging Het
Slf1 T A 13: 77,197,338 (GRCm39) probably null Het
Ssr2 T A 3: 88,483,949 (GRCm39) probably benign Het
Syt2 ACTCTCTCT ACTCTCTCTCT 1: 134,674,479 (GRCm39) probably benign Het
Tas2r115 T C 6: 132,714,321 (GRCm39) K210R probably benign Het
Tbx18 A G 9: 87,597,706 (GRCm39) V276A probably damaging Het
Tesl1 T A X: 23,773,549 (GRCm39) V350E probably benign Het
Tie1 G A 4: 118,330,008 (GRCm39) R1072* probably null Het
Tm2d2 C A 8: 25,512,674 (GRCm39) T174K probably damaging Het
Tmem98 A G 11: 80,705,158 (GRCm39) D82G possibly damaging Het
Tmub2 A G 11: 102,178,379 (GRCm39) E94G possibly damaging Het
Tnnt2 TG TGG 1: 135,774,499 (GRCm39) probably benign Het
Tonsl A T 15: 76,516,861 (GRCm39) I923N probably damaging Het
Ttc21a G A 9: 119,793,361 (GRCm39) V977M probably damaging Het
Ube2ql1 T C 13: 69,886,783 (GRCm39) D226G probably damaging Het
Ubr4 C T 4: 139,204,518 (GRCm39) T4810M probably damaging Het
Wdr87-ps T C 7: 29,230,935 (GRCm39) noncoding transcript Het
Zfp408 A G 2: 91,478,194 (GRCm39) probably benign Het
Zfp473 T C 7: 44,382,501 (GRCm39) T610A possibly damaging Het
Zfp804b A G 5: 6,822,583 (GRCm39) V160A probably benign Het
Zfp960 A G 17: 17,308,146 (GRCm39) T287A 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
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
Predicted Primers PCR Primer
(F):5'- TTGAGCAGCTCAGTCCTCAC -3'
(R):5'- TGATAGCCTCTTAGGGGTCC -3'

Sequencing Primer
(F):5'- CTCACGCCGGACAGCAG -3'
(R):5'- TCCCTCCAGGCAAGTGAGTG -3'
Posted On 2014-10-01