Incidental Mutation 'R8862:Baz1a'
ID 675734
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 068741-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8862 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 54939774-55061133 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 55032624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038926] [ENSMUST00000172875] [ENSMUST00000173177] [ENSMUST00000173433] [ENSMUST00000173529] [ENSMUST00000173803]
AlphaFold O88379
Predicted Effect probably benign
Transcript: ENSMUST00000038926
SMART Domains Protein: ENSMUSP00000039757
Gene: ENSMUSG00000035021

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 benign
Transcript: ENSMUST00000172875
SMART Domains Protein: ENSMUSP00000134384
Gene: ENSMUSG00000035021

DomainStartEndE-ValueType
Pfam:WAC_Acf1_DNA_bd 22 122 3e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173177
SMART Domains Protein: ENSMUSP00000133796
Gene: ENSMUSG00000035021

DomainStartEndE-ValueType
Pfam:WAC_Acf1_DNA_bd 22 86 5.2e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173433
SMART Domains Protein: ENSMUSP00000133478
Gene: ENSMUSG00000035021

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: ENSMUST00000173529
SMART Domains Protein: ENSMUSP00000134445
Gene: ENSMUSG00000035021

DomainStartEndE-ValueType
Pfam:WAC_Acf1_DNA_bd 22 82 7.5e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173803
SMART Domains Protein: ENSMUSP00000134012
Gene: ENSMUSG00000092233

DomainStartEndE-ValueType
low complexity region 20 31 N/A INTRINSIC
low complexity region 83 123 N/A INTRINSIC
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (61/61)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 C T 14: 54,901,172 (GRCm39) G685R probably benign Het
Ahdc1 T C 4: 132,791,129 (GRCm39) F790S possibly damaging Het
Alg10b T C 15: 90,109,893 (GRCm39) Y69H probably damaging Het
Amer3 A T 1: 34,626,465 (GRCm39) S235C probably damaging Het
Ankfy1 G T 11: 72,644,469 (GRCm39) S722I probably benign Het
Ccdc177 A G 12: 80,804,208 (GRCm39) S689P unknown Het
Cdh24 C A 14: 54,869,874 (GRCm39) R681L probably damaging Het
Cdk14 T G 5: 5,060,862 (GRCm39) I338L probably benign Het
Clec2m T C 6: 129,308,494 (GRCm39) T12A probably benign Het
Col18a1 G T 10: 76,949,044 (GRCm39) S156* probably null Het
Col6a6 T C 9: 105,663,348 (GRCm39) Y63C probably damaging Het
Cytip G A 2: 58,037,887 (GRCm39) T159M probably benign Het
Dnah5 T C 15: 28,459,502 (GRCm39) probably benign Het
Dock3 T C 9: 106,855,927 (GRCm39) Y744C probably damaging Het
Dop1a T C 9: 86,406,404 (GRCm39) probably null Het
Dse A T 10: 34,029,934 (GRCm39) D385E probably damaging Het
Efhc1 A C 1: 21,037,573 (GRCm39) D250A Het
Epha3 T A 16: 63,431,348 (GRCm39) T519S probably benign Het
Gas2l3 A G 10: 89,250,282 (GRCm39) Y279H probably damaging Het
Gatd3a A G 10: 78,005,461 (GRCm39) S35P probably damaging Het
Gemin6 G A 17: 80,535,432 (GRCm39) V131I probably damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gnai2 C A 9: 107,512,326 (GRCm39) A31S Het
Greb1l A G 18: 10,555,042 (GRCm39) D1696G possibly damaging Het
Itfg2 T C 6: 128,394,668 (GRCm39) E35G probably damaging Het
Kctd10 A G 5: 114,503,921 (GRCm39) F244L probably damaging Het
Kif19b C A 5: 140,472,534 (GRCm39) P686Q probably damaging Het
Krtap5-1 ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG 7: 141,850,333 (GRCm39) probably benign Het
Lgals9 G T 11: 78,860,716 (GRCm39) probably benign Het
Lrriq4 A T 3: 30,705,088 (GRCm39) N372I probably damaging Het
Mical2 A G 7: 111,910,574 (GRCm39) N248S probably damaging Het
Mipep T A 14: 61,080,689 (GRCm39) C560* probably null Het
Myo1a G A 10: 127,548,653 (GRCm39) V396M probably benign Het
Myod1 A G 7: 46,026,487 (GRCm39) T131A probably damaging Het
Nalcn T A 14: 123,647,199 (GRCm39) D558V possibly damaging Het
Odf2l T A 3: 144,833,758 (GRCm39) probably benign Het
Or6d13 G A 6: 116,518,186 (GRCm39) M257I probably benign Het
Plbd2 A T 5: 120,624,728 (GRCm39) M480K probably damaging Het
Ppargc1a A G 5: 51,631,235 (GRCm39) F465L possibly damaging Het
Ppp1r15b A T 1: 133,064,506 (GRCm39) I659F probably damaging Het
Prune2 C T 19: 17,097,510 (GRCm39) L1005F probably benign Het
Pter T C 2: 12,985,341 (GRCm39) S224P probably damaging Het
Ralgapa2 A G 2: 146,266,731 (GRCm39) I615T probably benign Het
Ror1 T C 4: 100,191,715 (GRCm39) probably null Het
Rps2 A G 17: 24,940,662 (GRCm39) T259A probably benign Het
Rsf1 GCG GCGACGGCGCCG 7: 97,229,114 (GRCm39) probably benign Het
S1pr4 G A 10: 81,334,533 (GRCm39) R314C probably damaging Het
Sema4f A T 6: 82,891,081 (GRCm39) H575Q probably benign Het
Son A G 16: 91,453,734 (GRCm39) D827G probably damaging Het
Sox8 A T 17: 25,787,045 (GRCm39) H219Q possibly damaging Het
Spink2 C T 5: 77,357,615 (GRCm39) D24N probably benign Het
Stard9 A G 2: 120,534,099 (GRCm39) D3452G probably benign Het
Syngr2 G T 11: 117,703,507 (GRCm39) D108Y probably damaging Het
Tardbp G A 4: 148,702,755 (GRCm39) S403L possibly damaging Het
Tomm70a T C 16: 56,942,546 (GRCm39) S108P probably benign Het
Ttc12 T C 9: 49,351,515 (GRCm39) T661A probably benign Het
Tubgcp6 A G 15: 89,006,824 (GRCm39) V66A probably benign Het
Unc13b T A 4: 43,235,207 (GRCm39) L477Q probably damaging Het
Vmn1r77 T A 7: 11,776,060 (GRCm39) C279S probably benign Het
Vmn2r79 T C 7: 86,645,712 (GRCm39) S14P probably benign Het
Zan T C 5: 137,472,674 (GRCm39) T72A probably benign Het
Zcchc2 A G 1: 105,958,998 (GRCm39) *1156W probably null Het
Zfp354c A T 11: 50,708,718 (GRCm39) D26E 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
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'- TCGTAGTGGCGGAAGATCTC -3'
(R):5'- AGTAGCTCAGAAACTTCCCGG -3'

Sequencing Primer
(F):5'- AAGATCTCGTTGGTGACTTTACAG -3'
(R):5'- CAAGTGCTCGCAGGTGAG -3'
Posted On 2021-07-15