Incidental Mutation 'R6092:Baz1a'
ID 486001
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 044249-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6092 (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 54955868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 1074 (V1074M)
Ref Sequence ENSEMBL: ENSMUSP00000039757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038926] [ENSMUST00000173433]
AlphaFold O88379
Predicted Effect possibly damaging
Transcript: ENSMUST00000038926
AA Change: V1074M

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000039757
Gene: ENSMUSG00000035021
AA Change: V1074M

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: V1071M

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000133478
Gene: ENSMUSG00000035021
AA Change: V1071M

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 98% (61/62)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,774,701 (GRCm39) P1297S probably benign Het
4930486L24Rik C T 13: 61,001,461 (GRCm39) V89M probably benign Het
Abhd16a T C 17: 35,317,786 (GRCm39) probably null Het
Abtb1 A C 6: 88,815,433 (GRCm39) C264G probably benign Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Arid1a C T 4: 133,421,163 (GRCm39) G881R unknown Het
Asb8 A G 15: 98,034,123 (GRCm39) V144A possibly damaging Het
Atm A C 9: 53,435,714 (GRCm39) C199G probably damaging Het
Atxn1 C A 13: 45,720,288 (GRCm39) V536L probably benign Het
BC034090 T A 1: 155,100,659 (GRCm39) D535V probably damaging Het
Casp8ap2 C A 4: 32,639,380 (GRCm39) H145N probably damaging Het
Ccdc24 T A 4: 117,729,645 (GRCm39) K25* probably null Het
Ccdc91 A G 6: 147,437,114 (GRCm39) N100S possibly damaging Het
Cdh20 A T 1: 110,026,036 (GRCm39) Y424F probably benign Het
Clasp1 T C 1: 118,438,028 (GRCm39) S612P probably damaging Het
Cxcl14 T C 13: 56,443,646 (GRCm39) M55V possibly damaging Het
Dnah11 T C 12: 117,892,191 (GRCm39) T3661A probably benign Het
Dnah14 T A 1: 181,449,398 (GRCm39) D574E probably benign Het
Dnah6 C T 6: 73,091,680 (GRCm39) V2204M possibly damaging Het
Ercc4 A T 16: 12,943,125 (GRCm39) H178L probably benign Het
Far2 T C 6: 148,076,581 (GRCm39) F475L probably benign Het
Ggt7 A G 2: 155,359,959 (GRCm39) probably null Het
Gm4131 T A 14: 62,718,364 (GRCm39) T81S possibly damaging Het
Gprc6a A G 10: 51,491,173 (GRCm39) S788P probably damaging Het
Hmgxb3 C A 18: 61,270,672 (GRCm39) G884V possibly damaging Het
Homer1 T A 13: 93,502,945 (GRCm39) probably benign Het
Iars1 T C 13: 49,861,897 (GRCm39) S483P probably damaging Het
Kansl1l C G 1: 66,812,643 (GRCm39) E457Q probably damaging Het
Krtap4-9 G A 11: 99,676,481 (GRCm39) probably benign Het
Lepr C A 4: 101,649,220 (GRCm39) P874T probably damaging Het
Mad2l2 T A 4: 148,228,067 (GRCm39) F100L probably damaging Het
Mavs A T 2: 131,087,518 (GRCm39) R339* probably null Het
Mettl1 G A 10: 126,877,843 (GRCm39) probably benign Het
Mfsd8 A G 3: 40,774,031 (GRCm39) V493A possibly damaging Het
Mtmr9 C T 14: 63,779,901 (GRCm39) V63M possibly damaging Het
Mto1 T C 9: 78,368,131 (GRCm39) I425T possibly damaging Het
Or2av9 A T 11: 58,380,900 (GRCm39) M227K probably damaging Het
Or5g29 A G 2: 85,420,950 (GRCm39) Y22C probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Pclo C T 5: 14,727,937 (GRCm39) probably benign Het
Phf2 T C 13: 48,969,533 (GRCm39) D608G unknown Het
Plch2 T C 4: 155,068,829 (GRCm39) T1266A probably benign Het
Prdm12 A G 2: 31,533,889 (GRCm39) N169D probably damaging Het
Rimbp3 A G 16: 17,030,134 (GRCm39) Y1186C probably damaging Het
Serpinb3d T C 1: 107,006,989 (GRCm39) M240V probably damaging Het
Slc25a38 C T 9: 119,945,658 (GRCm39) R74C probably damaging Het
Slc25a39 A T 11: 102,295,719 (GRCm39) Y109* probably null Het
Slc26a8 T C 17: 28,867,129 (GRCm39) N564S probably damaging Het
Spag4 G A 2: 155,907,696 (GRCm39) probably benign Het
Stx1b A G 7: 127,407,035 (GRCm39) M74T possibly damaging Het
Tbc1d1 A G 5: 64,507,242 (GRCm39) D1153G probably benign Het
Tert T C 13: 73,776,700 (GRCm39) F484L probably benign Het
Tet1 A G 10: 62,649,494 (GRCm39) V72A probably benign Het
Tnfrsf13c T C 15: 82,107,355 (GRCm39) T147A probably damaging Het
Trpa1 A T 1: 14,959,710 (GRCm39) Y659N probably damaging Het
Trpm2 A G 10: 77,761,516 (GRCm39) F1045L probably benign Het
Ttc13 T C 8: 125,405,772 (GRCm39) H529R probably benign Het
Ttn T C 2: 76,545,614 (GRCm39) T32570A probably damaging Het
Uba7 A G 9: 107,860,359 (GRCm39) T892A possibly damaging Het
Uty A T Y: 1,174,836 (GRCm39) M195K probably benign Het
Zfp109 A G 7: 23,928,978 (GRCm39) S152P possibly damaging Het
Zfp532 T C 18: 65,777,281 (GRCm39) V846A probably damaging Het
Zfp658 A T 7: 43,223,951 (GRCm39) H742L possibly damaging Het
Zfp831 C A 2: 174,547,299 (GRCm39) P1494Q 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
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'- TTATGTCAGCCTACAGCCCC -3'
(R):5'- ATCTGAGGTTGTGTCATGAACATAC -3'

Sequencing Primer
(F):5'- GCCCCAGTAGGAAGACACTTC -3'
(R):5'- GTGTCATGAACATACATCTATGCAC -3'
Posted On 2017-08-16