Incidental Mutation 'R8025:Baz1a'
ID 617664
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 067464-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8025 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 54939774-55061133 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 54955921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1056 (I1056N)
Ref Sequence ENSEMBL: ENSMUSP00000039757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038926] [ENSMUST00000173433]
AlphaFold O88379
Predicted Effect probably benign
Transcript: ENSMUST00000038926
AA Change: I1056N

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000039757
Gene: ENSMUSG00000035021
AA Change: I1056N

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: ENSMUST00000173433
AA Change: I1053N

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000133478
Gene: ENSMUSG00000035021
AA Change: I1053N

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 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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
4930579G24Rik T G 3: 79,536,635 (GRCm39) L51R probably damaging Het
Actl7b T C 4: 56,741,137 (GRCm39) T74A probably damaging Het
Aip C A 19: 4,165,346 (GRCm39) A207S probably benign Het
AL732309.1 A G 2: 25,136,331 (GRCm39) probably benign Het
Apcdd1 G T 18: 63,069,979 (GRCm39) C82F probably damaging Het
Arhgap42 T G 9: 9,005,823 (GRCm39) I736L probably benign Het
Bzw2 T C 12: 36,157,517 (GRCm39) E316G probably damaging Het
Carns1 A T 19: 4,216,505 (GRCm39) I559N probably damaging Het
Chrnb2 A T 3: 89,668,649 (GRCm39) V222E probably damaging Het
Cngb3 A T 4: 19,280,960 (GRCm39) N10Y possibly damaging Het
Dennd1b A G 1: 139,038,158 (GRCm39) K267E Het
Dhx32 A G 7: 133,323,100 (GRCm39) Y705H probably damaging Het
Dnah7c G A 1: 46,496,456 (GRCm39) V114I probably benign Het
Dnah8 T A 17: 30,960,311 (GRCm39) C2229* probably null Het
Dync2i2 T C 2: 29,938,730 (GRCm39) Q51R probably benign Het
Gm14401 T C 2: 176,778,249 (GRCm39) F112L probably damaging Het
Gm57858 C A 3: 36,073,136 (GRCm39) R382L probably damaging Het
Habp4 G A 13: 64,322,645 (GRCm39) R238H probably benign Het
Herpud1 A G 8: 95,119,149 (GRCm39) Y301C probably damaging Het
Itih5 G A 2: 10,245,833 (GRCm39) A641T probably benign Het
Kcns3 A T 12: 11,141,846 (GRCm39) N284K probably damaging Het
Mcrs1 G A 15: 99,144,814 (GRCm39) Q267* probably null Het
Midn G A 10: 79,991,126 (GRCm39) A379T probably benign Het
Muc21 GTGCTGGATTCAGTGGTGGGCAGGGTGGGGGTAGAGCCTGAGCCACTGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCA GTGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCA 17: 35,931,879 (GRCm39) probably benign Het
Odad2 A T 18: 7,127,224 (GRCm39) N996K probably benign Het
Or2d36 A G 7: 106,746,930 (GRCm39) M136V possibly damaging Het
Or4d2b A T 11: 87,779,777 (GRCm39) probably null Het
Or51f5 T C 7: 102,424,463 (GRCm39) V244A probably benign Het
Or5m11 A T 2: 85,781,856 (GRCm39) I150F probably benign Het
Or7e175 T C 9: 20,048,928 (GRCm39) V172A probably benign Het
Parpbp T C 10: 87,928,970 (GRCm39) D490G probably benign Het
Pcbp2 T A 15: 102,396,711 (GRCm39) S262R probably benign Het
Pcdhgc5 T C 18: 37,953,992 (GRCm39) I422T possibly damaging Het
Pcsk5 T A 19: 17,538,415 (GRCm39) probably benign Het
Plxna1 G A 6: 89,308,254 (GRCm39) R1278W probably damaging Het
Polr1c A G 17: 46,555,974 (GRCm39) L162P probably damaging Het
Rasl2-9 A G 7: 5,128,481 (GRCm39) S150P probably damaging Het
Raver2 C A 4: 100,960,162 (GRCm39) S214* probably null Het
Rbpjl C A 2: 164,252,166 (GRCm39) probably benign Het
Rec114 T G 9: 58,567,605 (GRCm39) E127A possibly damaging Het
Recql5 C A 11: 115,818,938 (GRCm39) L209F probably damaging Het
Rgs11 T C 17: 26,423,359 (GRCm39) probably null Het
Rgs3 C A 4: 62,608,831 (GRCm39) H366N probably damaging Het
Rnf148 C T 6: 23,654,196 (GRCm39) D267N possibly damaging Het
Scn1a T C 2: 66,148,557 (GRCm39) N1007S probably benign Het
Sdcbp A G 4: 6,393,022 (GRCm39) T220A probably benign Het
Sema5a A G 15: 32,548,928 (GRCm39) N134S probably benign Het
Smg1 G A 7: 117,806,212 (GRCm39) Q210* probably null Het
Snx7 A G 3: 117,626,526 (GRCm39) V328A probably benign Het
Sult1c2 A T 17: 54,138,837 (GRCm39) S247T probably benign Het
Tceanc2 C T 4: 106,996,997 (GRCm39) probably null Het
Tead3 T C 17: 28,554,009 (GRCm39) D141G probably benign Het
Tlcd5 T A 9: 43,022,848 (GRCm39) T169S probably benign Het
Ube3b T C 5: 114,546,270 (GRCm39) M692T probably damaging Het
Vmn1r188 T C 13: 22,272,084 (GRCm39) F13L probably benign Het
Vmn2r3 A G 3: 64,182,871 (GRCm39) V276A possibly damaging Het
Vmn2r57 A G 7: 41,076,183 (GRCm39) I443T probably benign Het
Vps33a T C 5: 123,696,738 (GRCm39) N305S possibly damaging Het
Vps33b A T 7: 79,940,094 (GRCm39) probably benign Het
Wdr72 T A 9: 74,050,781 (GRCm39) M91K probably benign Het
Xylb T C 9: 119,210,569 (GRCm39) F351L probably damaging Het
Zan C T 5: 137,404,614 (GRCm39) D3883N unknown Het
Zfp82 T A 7: 29,756,278 (GRCm39) H268L 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
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
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'- TCCCGTTATTTAAAATCCAACTGGC -3'
(R):5'- GACCTGTCTCAAGGTGGAAG -3'

Sequencing Primer
(F):5'- CCAACTGGCATTTTGAAATGAGAAG -3'
(R):5'- CTGAGGTTGTGTCATGAACATAC -3'
Posted On 2020-01-23