Incidental Mutation 'R1731:Baz1a'
ID 199337
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 039763-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1731 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 54939774-55061133 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54965330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 708 (D708G)
Ref Sequence ENSEMBL: ENSMUSP00000133478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038926] [ENSMUST00000173433]
AlphaFold O88379
Predicted Effect possibly damaging
Transcript: ENSMUST00000038926
AA Change: D711G

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000039757
Gene: ENSMUSG00000035021
AA Change: D711G

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 possibly damaging
Transcript: ENSMUST00000173433
AA Change: D708G

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133478
Gene: ENSMUSG00000035021
AA Change: D708G

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
Predicted Effect probably benign
Transcript: ENSMUST00000174225
SMART Domains Protein: ENSMUSP00000133324
Gene: ENSMUSG00000035021

DomainStartEndE-ValueType
Pfam:DDT 45 78 8.8e-10 PFAM
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 T A 14: 68,762,805 (GRCm39) Y140F probably damaging Het
Adgrl4 T G 3: 151,246,623 (GRCm39) I641S possibly damaging Het
Aqp9 A G 9: 71,030,250 (GRCm39) I205T possibly damaging Het
Arap3 C T 18: 38,122,965 (GRCm39) V512I probably benign Het
Atf2 C T 2: 73,675,853 (GRCm39) G123E probably damaging Het
Calcrl A G 2: 84,175,512 (GRCm39) probably null Het
Capzb T A 4: 139,007,341 (GRCm39) W110R probably damaging Het
Casp8ap2 A T 4: 32,641,442 (GRCm39) N832I possibly damaging Het
Cecr2 T A 6: 120,735,141 (GRCm39) H764Q possibly damaging Het
Cep131 T C 11: 119,967,742 (GRCm39) probably null Het
Ces2e T C 8: 105,656,208 (GRCm39) V173A probably damaging Het
Clstn3 T C 6: 124,408,591 (GRCm39) D944G probably benign Het
Cyb5rl C A 4: 106,938,110 (GRCm39) A189E probably damaging Het
Cyp2c40 A G 19: 39,801,133 (GRCm39) S41P probably damaging Het
Dscam A G 16: 96,621,076 (GRCm39) L544P probably damaging Het
Epha2 A G 4: 141,049,063 (GRCm39) K640E possibly damaging Het
Erap1 T A 13: 74,814,241 (GRCm39) C8* probably null Het
Fat3 A G 9: 15,907,233 (GRCm39) V2923A probably benign Het
Fat4 A T 3: 38,945,459 (GRCm39) I1451F probably damaging Het
Fcsk A T 8: 111,621,455 (GRCm39) I163N probably damaging Het
Fzd6 G A 15: 38,894,722 (GRCm39) G296D probably damaging Het
Gm3486 T A 14: 41,206,492 (GRCm39) M194L probably benign Het
Gm5592 C T 7: 40,937,837 (GRCm39) A373V probably damaging Het
Hectd3 T A 4: 116,853,652 (GRCm39) probably null Het
Hira T A 16: 18,751,764 (GRCm39) V521E probably benign Het
Hsd17b6 A G 10: 127,830,348 (GRCm39) L141S possibly damaging Het
Idua A G 5: 108,829,538 (GRCm39) D467G probably benign Het
Ikzf4 G A 10: 128,470,401 (GRCm39) P373L probably benign Het
Kcng1 T C 2: 168,110,609 (GRCm39) E185G probably benign Het
Krt84 G A 15: 101,434,398 (GRCm39) S523F possibly damaging Het
Lpcat4 T C 2: 112,074,188 (GRCm39) L250P probably damaging Het
Lrrc49 A G 9: 60,528,914 (GRCm39) Y281H probably damaging Het
Mta2 C A 19: 8,925,088 (GRCm39) probably null Het
Myo15b T C 11: 115,782,386 (GRCm39) I372T possibly damaging Het
Myocd T A 11: 65,091,714 (GRCm39) N76I probably benign Het
Nav2 T A 7: 49,197,922 (GRCm39) Y1123N probably damaging Het
Otogl A T 10: 107,652,972 (GRCm39) C1127S probably damaging Het
Pcdhb8 A G 18: 37,488,891 (GRCm39) K190E probably damaging Het
Pcnx1 A G 12: 82,037,478 (GRCm39) H1918R probably damaging Het
Pde2a T A 7: 101,150,867 (GRCm39) Y272N probably damaging Het
Phldb3 T C 7: 24,318,660 (GRCm39) V313A probably benign Het
Plch2 C T 4: 155,091,451 (GRCm39) V116I possibly damaging Het
Plod2 G A 9: 92,466,657 (GRCm39) probably null Het
Ppfibp2 T C 7: 107,339,796 (GRCm39) Y730H probably damaging Het
Ptprh T C 7: 4,604,912 (GRCm39) E44G probably benign Het
Rab11fip1 T C 8: 27,642,438 (GRCm39) E787G probably damaging Het
Rabep2 T A 7: 126,043,444 (GRCm39) L448Q probably damaging Het
Rbfox3 A G 11: 118,387,762 (GRCm39) probably null Het
Rgma T C 7: 73,059,160 (GRCm39) V88A probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf125 A G 18: 21,110,873 (GRCm39) T44A probably benign Het
Rusc2 G T 4: 43,426,046 (GRCm39) A1384S probably benign Het
Selp T A 1: 163,969,009 (GRCm39) C536* probably null Het
Serpinb3c G A 1: 107,199,504 (GRCm39) T339I probably damaging Het
Slc4a5 C T 6: 83,273,617 (GRCm39) R986C probably damaging Het
Slc8b1 T C 5: 120,659,180 (GRCm39) I208T probably benign Het
Sp3 G A 2: 72,776,999 (GRCm39) H533Y probably damaging Het
Speer1e T A 5: 11,233,080 (GRCm39) N14K probably damaging Het
Tiam2 A G 17: 3,568,698 (GRCm39) R1615G probably damaging Het
Tie1 T C 4: 118,333,460 (GRCm39) E802G probably damaging Het
Tinagl1 A G 4: 130,061,842 (GRCm39) V164A probably benign Het
Vmn1r68 A G 7: 10,261,802 (GRCm39) Y99H probably damaging Het
Vmn1r87 T A 7: 12,865,703 (GRCm39) T195S possibly damaging Het
Vmn2r56 T C 7: 12,466,972 (GRCm39) T21A probably benign Het
Zfp108 C A 7: 23,957,964 (GRCm39) H34Q possibly damaging Het
Zfp267 T A 3: 36,218,620 (GRCm39) F214L probably benign Het
Zfp456 C T 13: 67,514,674 (GRCm39) S344N probably benign Het
Zscan22 T C 7: 12,640,907 (GRCm39) C384R 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
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
R7248:Baz1a UTSW 12 54,947,293 (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'- TGAATCAAGACCTAGCCATGAAGCAG -3'
(R):5'- ATCAGCAGGTATCCAACCGCTCTC -3'

Sequencing Primer
(F):5'- GCAGAAAGAACCCTGCTGTC -3'
(R):5'- gcaggcaaaacacacacac -3'
Posted On 2014-05-23