Incidental Mutation 'R7248:Baz1a'
ID 563704
Institutional Source Beutler Lab
Gene Symbol Baz1a
Ensembl Gene ENSMUSG00000035021
Gene Name bromodomain adjacent to zinc finger domain 1A
Synonyms Gtl5, Wcrf180, Acf1
MMRRC Submission 045311-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7248 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 54939774-55061133 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 54947293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 1119 (E1119K)
Ref Sequence ENSEMBL: ENSMUSP00000039757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038926] [ENSMUST00000173433]
AlphaFold O88379
Predicted Effect probably damaging
Transcript: ENSMUST00000038926
AA Change: E1119K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039757
Gene: ENSMUSG00000035021
AA Change: E1119K

DomainStartEndE-ValueType
Pfam:WAC_Acf1_DNA_bd 23 122 4.4e-36 PFAM
low complexity region 164 175 N/A INTRINSIC
coiled coil region 312 397 N/A INTRINSIC
Pfam:DDT 423 485 2.3e-14 PFAM
low complexity region 519 530 N/A INTRINSIC
Pfam:WHIM1 593 641 1.5e-8 PFAM
low complexity region 658 696 N/A INTRINSIC
low complexity region 725 738 N/A INTRINSIC
low complexity region 774 796 N/A INTRINSIC
low complexity region 861 873 N/A INTRINSIC
Pfam:WHIM3 894 932 2e-16 PFAM
low complexity region 1058 1073 N/A INTRINSIC
PHD 1151 1197 9.46e-15 SMART
RING 1152 1196 6.88e-1 SMART
low complexity region 1214 1257 N/A INTRINSIC
BROMO 1426 1534 2.18e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000173433
AA Change: E1116K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133478
Gene: ENSMUSG00000035021
AA Change: E1116K

DomainStartEndE-ValueType
Pfam:WAC_Acf1_DNA_bd 22 122 1.1e-37 PFAM
low complexity region 164 175 N/A INTRINSIC
coiled coil region 312 397 N/A INTRINSIC
DDT 422 487 1.54e-19 SMART
low complexity region 518 529 N/A INTRINSIC
Pfam:WHIM1 592 640 1.8e-8 PFAM
low complexity region 657 695 N/A INTRINSIC
low complexity region 722 735 N/A INTRINSIC
low complexity region 771 793 N/A INTRINSIC
low complexity region 858 870 N/A INTRINSIC
low complexity region 1055 1070 N/A INTRINSIC
PHD 1148 1194 9.46e-15 SMART
RING 1149 1193 6.88e-1 SMART
low complexity region 1211 1254 N/A INTRINSIC
BROMO 1423 1531 2.18e-31 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 97% (75/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The BAZ1A gene encodes the accessory subunit of the ATP-dependent chromatin assembly factor (ACF), a member of the ISWI ('imitation switch') family of chromatin remodeling complexes (summarized by Racki et al., 2009 [PubMed 20033039]).[supplied by OMIM, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and able to repair meiotic double-strand breaks but exhibit teratospermia, oligospermia, asthenospermia, and male infertility due to impaired spermiogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,207,959 (GRCm39) probably null Het
Aldh16a1 A G 7: 44,795,018 (GRCm39) Y484H probably damaging Het
Arhgap26 T C 18: 39,439,907 (GRCm39) probably null Het
Atxn7l1 A G 12: 33,417,194 (GRCm39) T452A probably benign Het
Btaf1 A T 19: 36,922,714 (GRCm39) E39D possibly damaging Het
Bud13 G T 9: 46,194,413 (GRCm39) E29* probably null Het
Ccdc150 C T 1: 54,344,057 (GRCm39) T530I probably benign Het
Chd6 G A 2: 160,803,199 (GRCm39) Q2160* probably null Het
Cluap1 T A 16: 3,737,364 (GRCm39) I172N possibly damaging Het
Cnot2 T C 10: 116,334,278 (GRCm39) N329S probably benign Het
Cog4 A T 8: 111,608,834 (GRCm39) T175S unknown Het
Coq7 C A 7: 118,128,897 (GRCm39) R46L probably benign Het
D630045J12Rik A T 6: 38,145,198 (GRCm39) V1276E probably damaging Het
Dcaf15 A G 8: 84,829,394 (GRCm39) V116A possibly damaging Het
Ddr2 C T 1: 169,822,198 (GRCm39) V417I probably benign Het
Defa25 G A 8: 21,575,216 (GRCm39) C65Y probably damaging Het
Dhx38 T C 8: 110,285,559 (GRCm39) T425A probably benign Het
Diaph1 T C 18: 38,022,829 (GRCm39) T782A probably benign Het
Dnah7b T A 1: 46,181,245 (GRCm39) M1044K possibly damaging Het
Dusp16 G A 6: 134,695,940 (GRCm39) T297M probably benign Het
Esyt2 A G 12: 116,305,858 (GRCm39) N363D probably damaging Het
Fasl C T 1: 161,615,760 (GRCm39) C32Y possibly damaging Het
Flg T C 3: 93,189,041 (GRCm39) V137A probably benign Het
Gm57858 T A 3: 36,080,086 (GRCm39) T224S probably benign Het
Gpr150 G A 13: 76,204,126 (GRCm39) A273V probably benign Het
Grk5 A G 19: 60,879,045 (GRCm39) T10A probably benign Het
Hivep2 A G 10: 14,006,909 (GRCm39) K1169R possibly damaging Het
Ido2 A C 8: 25,030,657 (GRCm39) Y224* probably null Het
Ido2 A G 8: 25,038,839 (GRCm39) I149T probably damaging Het
Iqca1l C T 5: 24,749,269 (GRCm39) S743N probably benign Het
Kctd2 A G 11: 115,312,845 (GRCm39) T126A possibly damaging Het
Khdc4 T C 3: 88,600,886 (GRCm39) S228P probably damaging Het
Kif1a T C 1: 92,969,305 (GRCm39) D1090G probably benign Het
Klrb1a A T 6: 128,586,697 (GRCm39) H222Q possibly damaging Het
Kndc1 A C 7: 139,500,699 (GRCm39) H688P probably damaging Het
Lrriq1 C A 10: 103,059,611 (GRCm39) V141F possibly damaging Het
Malrd1 A G 2: 16,106,722 (GRCm39) I1845V unknown Het
Mob3c G A 4: 115,688,881 (GRCm39) R138H probably benign Het
Mre11a T A 9: 14,723,209 (GRCm39) D394E possibly damaging Het
Myh7b A T 2: 155,464,106 (GRCm39) I536F probably damaging Het
Nacad T A 11: 6,548,589 (GRCm39) K1382* probably null Het
Ncor1 T C 11: 62,275,598 (GRCm39) K128R possibly damaging Het
Or10am5 T C 7: 6,517,520 (GRCm39) N303D probably damaging Het
Ostn T A 16: 27,165,719 (GRCm39) probably null Het
Pacs1 G A 19: 5,189,003 (GRCm39) T793I probably damaging Het
Pcdhb2 T C 18: 37,429,547 (GRCm39) S507P probably damaging Het
Pde2a A G 7: 101,152,597 (GRCm39) K393E possibly damaging Het
Pfkl T A 10: 77,825,423 (GRCm39) N656Y probably damaging Het
Phf20 T A 2: 156,135,331 (GRCm39) probably null Het
Plekha6 G T 1: 133,203,586 (GRCm39) E550* probably null Het
Plxna4 A T 6: 32,139,095 (GRCm39) V1691E probably damaging Het
Rag1 A T 2: 101,472,123 (GRCm39) H1006Q probably damaging Het
Rfx4 C T 10: 84,740,919 (GRCm39) P679L probably benign Het
Ripor2 A G 13: 24,878,128 (GRCm39) H301R probably damaging Het
Rrp12 A T 19: 41,871,877 (GRCm39) I469N possibly damaging Het
Serpinb6b A G 13: 33,161,559 (GRCm39) T211A probably benign Het
Sf1 A T 19: 6,426,383 (GRCm39) H547L unknown Het
Slc29a1 T C 17: 45,903,108 (GRCm39) D9G probably damaging Het
Sptan1 T A 2: 29,892,311 (GRCm39) M1075K probably benign Het
Syngap1 A G 17: 27,176,741 (GRCm39) D474G probably damaging Het
Syt16 C T 12: 74,313,483 (GRCm39) R470C probably damaging Het
Timeless A G 10: 128,087,870 (GRCm39) T1148A probably benign Het
Tmem116 A T 5: 121,601,899 (GRCm39) probably null Het
Tmem158 A T 9: 123,089,390 (GRCm39) I74N probably damaging Het
Traf5 T A 1: 191,743,432 (GRCm39) D174V probably benign Het
Trim65 A T 11: 116,018,534 (GRCm39) I247N probably benign Het
Tsfm A T 10: 126,847,500 (GRCm39) V197E probably benign Het
Utrn A G 10: 12,604,562 (GRCm39) C539R possibly damaging Het
Vps13a A T 19: 16,655,406 (GRCm39) F1874Y probably benign Het
Wdr6 A G 9: 108,453,238 (GRCm39) M215T possibly damaging Het
Wdr75 T A 1: 45,856,560 (GRCm39) W528R probably damaging Het
Zc3h7b A G 15: 81,655,988 (GRCm39) D112G possibly damaging Het
Zc3hav1 C T 6: 38,330,911 (GRCm39) D83N probably benign Het
Zfp369 T A 13: 65,443,931 (GRCm39) V358E probably damaging Het
Zfp946 T A 17: 22,672,489 (GRCm39) C29* probably null Het
Zng1 A G 19: 24,898,505 (GRCm39) S318P probably damaging Het
Other mutations in Baz1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01108:Baz1a APN 12 54,963,516 (GRCm39) missense probably benign
IGL01138:Baz1a APN 12 54,977,110 (GRCm39) missense probably damaging 1.00
IGL01298:Baz1a APN 12 55,001,594 (GRCm39) missense probably damaging 1.00
IGL02639:Baz1a APN 12 54,942,810 (GRCm39) splice site probably benign
IGL02995:Baz1a APN 12 54,947,232 (GRCm39) missense probably damaging 1.00
IGL03001:Baz1a APN 12 54,969,896 (GRCm39) missense possibly damaging 0.50
IGL03104:Baz1a APN 12 54,941,743 (GRCm39) missense probably damaging 1.00
IGL03135:Baz1a APN 12 54,976,375 (GRCm39) missense probably damaging 1.00
IGL03151:Baz1a APN 12 54,955,934 (GRCm39) critical splice acceptor site probably null
IGL03235:Baz1a APN 12 54,945,320 (GRCm39) missense probably damaging 1.00
IGL03240:Baz1a APN 12 54,974,352 (GRCm39) nonsense probably null
Bezos UTSW 12 54,941,816 (GRCm39) nonsense probably null
Flavia UTSW 12 55,022,093 (GRCm39) missense probably damaging 1.00
gumdrops UTSW 12 54,947,233 (GRCm39) missense probably damaging 1.00
Kilter UTSW 12 54,947,317 (GRCm39) missense probably damaging 0.99
Kisses UTSW 12 55,021,922 (GRCm39) missense probably damaging 1.00
liverlips UTSW 12 54,967,928 (GRCm39) missense possibly damaging 0.68
smooch UTSW 12 54,963,608 (GRCm39) missense probably damaging 1.00
Smootch UTSW 12 54,958,170 (GRCm39) missense probably damaging 1.00
PIT4458001:Baz1a UTSW 12 54,977,095 (GRCm39) missense probably benign 0.03
R0127:Baz1a UTSW 12 54,945,491 (GRCm39) missense possibly damaging 0.93
R0183:Baz1a UTSW 12 54,958,172 (GRCm39) missense probably damaging 1.00
R0393:Baz1a UTSW 12 54,965,221 (GRCm39) critical splice donor site probably null
R0532:Baz1a UTSW 12 54,981,605 (GRCm39) missense possibly damaging 0.55
R0614:Baz1a UTSW 12 54,988,304 (GRCm39) nonsense probably null
R0626:Baz1a UTSW 12 55,022,055 (GRCm39) missense probably damaging 0.99
R0654:Baz1a UTSW 12 54,958,182 (GRCm39) missense probably benign 0.01
R0782:Baz1a UTSW 12 54,941,273 (GRCm39) missense probably damaging 1.00
R0826:Baz1a UTSW 12 54,977,097 (GRCm39) nonsense probably null
R0855:Baz1a UTSW 12 54,947,348 (GRCm39) splice site probably benign
R0927:Baz1a UTSW 12 54,941,773 (GRCm39) missense probably damaging 1.00
R0941:Baz1a UTSW 12 54,945,216 (GRCm39) missense probably benign 0.00
R1079:Baz1a UTSW 12 54,941,785 (GRCm39) missense possibly damaging 0.91
R1157:Baz1a UTSW 12 54,976,349 (GRCm39) missense probably damaging 1.00
R1647:Baz1a UTSW 12 55,021,983 (GRCm39) missense probably damaging 1.00
R1731:Baz1a UTSW 12 54,965,330 (GRCm39) missense possibly damaging 0.83
R1739:Baz1a UTSW 12 54,945,573 (GRCm39) nonsense probably null
R1762:Baz1a UTSW 12 54,955,805 (GRCm39) missense probably damaging 1.00
R1770:Baz1a UTSW 12 54,945,293 (GRCm39) missense probably damaging 1.00
R1968:Baz1a UTSW 12 54,947,122 (GRCm39) missense possibly damaging 0.91
R2037:Baz1a UTSW 12 54,976,431 (GRCm39) missense probably damaging 1.00
R2111:Baz1a UTSW 12 54,958,170 (GRCm39) missense probably damaging 1.00
R2215:Baz1a UTSW 12 55,022,154 (GRCm39) nonsense probably null
R2282:Baz1a UTSW 12 54,963,597 (GRCm39) nonsense probably null
R2875:Baz1a UTSW 12 54,969,904 (GRCm39) missense probably damaging 1.00
R2890:Baz1a UTSW 12 54,945,302 (GRCm39) missense probably benign
R2971:Baz1a UTSW 12 54,970,224 (GRCm39) missense probably damaging 1.00
R3404:Baz1a UTSW 12 54,963,774 (GRCm39) missense probably benign 0.00
R3419:Baz1a UTSW 12 54,993,684 (GRCm39) missense probably benign 0.05
R3699:Baz1a UTSW 12 54,963,831 (GRCm39) missense probably benign 0.09
R3899:Baz1a UTSW 12 54,981,589 (GRCm39) missense probably benign 0.01
R3927:Baz1a UTSW 12 54,967,928 (GRCm39) missense possibly damaging 0.68
R4050:Baz1a UTSW 12 54,976,404 (GRCm39) missense probably benign 0.00
R4072:Baz1a UTSW 12 54,988,345 (GRCm39) missense probably benign 0.18
R4196:Baz1a UTSW 12 54,958,200 (GRCm39) missense probably damaging 1.00
R4289:Baz1a UTSW 12 54,947,233 (GRCm39) missense probably damaging 1.00
R4455:Baz1a UTSW 12 54,958,153 (GRCm39) missense probably benign 0.26
R4583:Baz1a UTSW 12 54,969,325 (GRCm39) missense probably damaging 0.99
R4622:Baz1a UTSW 12 54,988,300 (GRCm39) missense probably benign 0.00
R4807:Baz1a UTSW 12 54,945,267 (GRCm39) missense probably benign 0.28
R4998:Baz1a UTSW 12 55,021,922 (GRCm39) missense probably damaging 1.00
R5239:Baz1a UTSW 12 54,945,129 (GRCm39) missense probably damaging 0.99
R5379:Baz1a UTSW 12 54,941,133 (GRCm39) missense probably damaging 1.00
R5408:Baz1a UTSW 12 54,969,835 (GRCm39) missense probably damaging 1.00
R5678:Baz1a UTSW 12 54,947,317 (GRCm39) missense probably damaging 0.99
R5810:Baz1a UTSW 12 54,974,500 (GRCm39) intron probably benign
R6092:Baz1a UTSW 12 54,955,868 (GRCm39) missense possibly damaging 0.88
R6317:Baz1a UTSW 12 55,001,585 (GRCm39) missense possibly damaging 0.92
R6332:Baz1a UTSW 12 54,965,339 (GRCm39) missense probably benign 0.01
R6803:Baz1a UTSW 12 54,988,340 (GRCm39) missense probably null 0.99
R7185:Baz1a UTSW 12 55,022,093 (GRCm39) missense probably damaging 1.00
R7392:Baz1a UTSW 12 54,945,550 (GRCm39) missense probably damaging 1.00
R8009:Baz1a UTSW 12 54,941,816 (GRCm39) nonsense probably null
R8025:Baz1a UTSW 12 54,955,921 (GRCm39) missense probably benign 0.34
R8392:Baz1a UTSW 12 54,969,908 (GRCm39) missense probably damaging 1.00
R8862:Baz1a UTSW 12 55,032,624 (GRCm39) unclassified probably benign
R8949:Baz1a UTSW 12 54,941,238 (GRCm39) missense probably damaging 1.00
R9340:Baz1a UTSW 12 54,963,372 (GRCm39) missense probably damaging 0.97
R9389:Baz1a UTSW 12 54,963,608 (GRCm39) missense probably damaging 1.00
R9401:Baz1a UTSW 12 54,963,339 (GRCm39) missense probably damaging 1.00
R9666:Baz1a UTSW 12 54,988,345 (GRCm39) missense probably benign 0.18
R9722:Baz1a UTSW 12 54,946,882 (GRCm39) missense probably benign 0.43
R9746:Baz1a UTSW 12 55,021,895 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- ACCTTGAGCTTTGGTCGGAC -3'
(R):5'- CTTTAACATTGGGTGCGGGC -3'

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