Incidental Mutation 'R9666:Baz1a'
ID 735733
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9666 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 54939774-55061133 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54988345 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 268 (I268T)
Ref Sequence ENSEMBL: ENSMUSP00000133478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038926] [ENSMUST00000173433]
AlphaFold O88379
Predicted Effect probably benign
Transcript: ENSMUST00000038926
AA Change: I268T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000039757
Gene: ENSMUSG00000035021
AA Change: I268T

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
Predicted Effect probably benign
Transcript: ENSMUST00000173433
AA Change: I268T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000133478
Gene: ENSMUSG00000035021
AA Change: I268T

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
Meta Mutation Damage Score 0.0844 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.4%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 C A 12: 118,838,422 (GRCm39) V1047L probably damaging Het
Akap6 G A 12: 53,188,318 (GRCm39) A1911T probably benign Het
Ank2 T A 3: 126,726,838 (GRCm39) K819* probably null Het
Apc2 A G 10: 80,147,183 (GRCm39) R746G possibly damaging Het
Bysl A G 17: 47,914,865 (GRCm39) I206T probably benign Het
Ccdc70 A C 8: 22,463,357 (GRCm39) E49A possibly damaging Het
Chd1 A T 17: 15,955,976 (GRCm39) H525L probably damaging Het
Col4a4 T C 1: 82,496,670 (GRCm39) E442G unknown Het
Cpd G A 11: 76,693,133 (GRCm39) P718S probably benign Het
Dip2b T A 15: 100,107,461 (GRCm39) I1391N probably damaging Het
Dpp9 T C 17: 56,501,946 (GRCm39) T541A probably damaging Het
Dst C T 1: 34,218,947 (GRCm39) Q1796* probably null Het
Gm10267 T C 18: 44,291,397 (GRCm39) I25V probably benign Het
Gm32742 C T 9: 51,061,441 (GRCm39) R744Q probably benign Het
Gm37240 T C 3: 84,422,952 (GRCm39) Y139C probably damaging Het
Gm39115 A G 7: 141,689,255 (GRCm39) C173R unknown Het
Grm6 T G 11: 50,750,877 (GRCm39) V680G probably damaging Het
Grxcr2 C T 18: 42,131,956 (GRCm39) D38N probably damaging Het
Iah1 G A 12: 21,366,587 (GRCm39) R52H probably damaging Het
Ift43 A G 12: 86,131,920 (GRCm39) Y36C possibly damaging Het
Igf2r T C 17: 12,945,588 (GRCm39) I334V probably benign Het
Igfn1 T A 1: 135,897,692 (GRCm39) Q958L possibly damaging Het
Il4i1 G A 7: 44,489,263 (GRCm39) A343T possibly damaging Het
Ints1 T C 5: 139,748,217 (GRCm39) I1128V probably benign Het
Irx1 C A 13: 72,111,588 (GRCm39) G7V probably damaging Het
Krr1 A G 10: 111,818,896 (GRCm39) R312G possibly damaging Het
Lmna CAGCACGGTGCGTGAGC CAGC 3: 88,389,857 (GRCm39) probably null Het
Lpin2 A T 17: 71,529,065 (GRCm39) N108Y probably damaging Het
Man2a1 A T 17: 64,943,557 (GRCm39) E204V possibly damaging Het
Megf8 A G 7: 25,030,166 (GRCm39) T434A possibly damaging Het
Minar1 A T 9: 89,484,072 (GRCm39) S442T probably benign Het
Muc16 T C 9: 18,567,285 (GRCm39) T1745A unknown Het
Mycbp2 G T 14: 103,371,474 (GRCm39) P4135T probably damaging Het
Nuggc T C 14: 65,857,045 (GRCm39) V398A possibly damaging Het
Or1e22 A G 11: 73,376,885 (GRCm39) I255T probably damaging Het
Or1e29 A T 11: 73,667,976 (GRCm39) M59K probably damaging Het
Or5w11 C T 2: 87,459,152 (GRCm39) A115V possibly damaging Het
Or6a2 A T 7: 106,600,099 (GRCm39) S323T probably benign Het
Or6e1 G T 14: 54,520,342 (GRCm39) N3K probably damaging Het
Or6f1 A G 7: 85,970,444 (GRCm39) S239P probably damaging Het
Parg A G 14: 31,964,294 (GRCm39) N653S probably damaging Het
Plek A G 11: 16,945,346 (GRCm39) F18L probably benign Het
Pnoc A G 14: 65,639,247 (GRCm39) I206T possibly damaging Het
Ppp4r3a T C 12: 101,049,129 (GRCm39) M1V probably null Het
Pramel21 A G 4: 143,341,699 (GRCm39) T43A probably benign Het
Psg22 T C 7: 18,458,248 (GRCm39) V313A probably benign Het
Ptk2b G T 14: 66,409,546 (GRCm39) P497T probably damaging Het
Rer1 A G 4: 155,160,044 (GRCm39) probably null Het
Rnf130 A G 11: 49,986,618 (GRCm39) T321A probably benign Het
Rnf207 A T 4: 152,397,717 (GRCm39) F346I probably damaging Het
Rraga T A 4: 86,494,574 (GRCm39) I140N possibly damaging Het
Rusc2 A T 4: 43,416,262 (GRCm39) M523L probably benign Het
Sh3bp1 T A 15: 78,792,622 (GRCm39) V495D probably benign Het
Slc44a5 T C 3: 153,945,926 (GRCm39) L153P probably benign Het
Spag16 T C 1: 70,764,072 (GRCm39) S631P probably damaging Het
Syne1 A C 10: 4,984,937 (GRCm39) L747R probably damaging Het
Tac1 A G 6: 7,555,675 (GRCm39) E21G probably benign Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tln1 T C 4: 43,542,957 (GRCm39) D1344G probably damaging Het
Tnc C T 4: 63,926,045 (GRCm39) E912K probably damaging Het
Trav16d-dv11 A G 14: 53,285,037 (GRCm39) T38A probably benign Het
Trbv15 T A 6: 41,118,364 (GRCm39) L40Q probably damaging Het
Trpa1 T C 1: 14,973,455 (GRCm39) I288V possibly damaging Het
Ttn A T 2: 76,604,941 (GRCm39) I18331N probably damaging Het
Tubgcp2 A T 7: 139,587,836 (GRCm39) I263N probably damaging Het
Ugt8a T C 3: 125,708,957 (GRCm39) H51R probably benign Het
Vmn2r2 T C 3: 64,023,870 (GRCm39) T904A probably benign Het
Zfp575 G A 7: 24,285,323 (GRCm39) T106M probably damaging Het
Zfp617 A G 8: 72,686,539 (GRCm39) T290A probably benign Het
Zfp809 T C 9: 22,149,863 (GRCm39) V120A probably benign 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
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
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'- TTAATGCTGAGCAGTATCAAGCG -3'
(R):5'- GGCTTAGTCTTTAACAGCAGC -3'

Sequencing Primer
(F):5'- GCGAGCACACACTCAAGTTTTC -3'
(R):5'- GTCTTTAACAGCAGCAATAGTGGCC -3'
Posted On 2022-11-14