Incidental Mutation 'IGL03001:Baz1a'
ID407317
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Baz1a
Ensembl Gene ENSMUSG00000035021
Gene Namebromodomain adjacent to zinc finger domain 1A
SynonymsWcrf180, Acf1, Gtl5
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03001
Quality Score
Status
Chromosome12
Chromosomal Location54892989-55014348 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 54923111 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 587 (M587K)
Ref Sequence ENSEMBL: ENSMUSP00000133478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038926] [ENSMUST00000173433]
Predicted Effect probably benign
Transcript: ENSMUST00000038926
AA Change: M588K

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000039757
Gene: ENSMUSG00000035021
AA Change: M588K

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: M587K

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000133478
Gene: ENSMUSG00000035021
AA Change: M587K

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
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830010M20Rik T C 5: 107,497,842 I9T probably damaging Het
Acan A C 7: 79,111,294 D1918A probably damaging Het
Ahcy C A 2: 155,064,828 D182Y probably damaging Het
Aldob T G 4: 49,542,844 D110A probably damaging Het
Alkbh8 A T 9: 3,344,602 M53L probably benign Het
Aqr T C 2: 114,146,919 D363G probably benign Het
Asxl3 A G 18: 22,517,398 R815G probably damaging Het
Atf4 T A 15: 80,256,657 W83R probably damaging Het
Cactin T A 10: 81,325,734 I700N probably damaging Het
Catsperg2 T C 7: 29,725,079 S95G probably benign Het
Cbwd1 T C 19: 24,922,638 K301E probably benign Het
Cd1d1 C T 3: 86,998,161 S175N probably benign Het
Chd4 C A 6: 125,101,566 A217E possibly damaging Het
Cnbd2 T C 2: 156,333,634 probably null Het
Cntnap5c G A 17: 58,055,639 C329Y probably damaging Het
Col12a1 C T 9: 79,633,673 G2391R probably damaging Het
Col5a3 T A 9: 20,807,744 D238V unknown Het
Cuedc1 T C 11: 88,182,489 V160A probably benign Het
Depdc5 T C 5: 32,945,090 V342A possibly damaging Het
Dnah6 T C 6: 73,149,140 D1338G probably benign Het
Dpyd T C 3: 118,917,242 V433A probably benign Het
Epb41l5 T C 1: 119,617,644 H179R probably damaging Het
Fbf1 T C 11: 116,165,886 probably benign Het
Flnb T C 14: 7,934,680 S2251P probably damaging Het
Fsip2 A T 2: 82,990,624 probably benign Het
Grin2b C T 6: 135,739,115 V735M probably damaging Het
Itpr3 T G 17: 27,089,612 probably benign Het
Lingo4 C T 3: 94,402,396 R214C probably damaging Het
Lrp1b C T 2: 40,927,889 R2329H probably damaging Het
Lrrc47 T C 4: 154,015,993 L342P probably damaging Het
Mmp15 T C 8: 95,368,217 S240P probably damaging Het
Ndufaf4 T A 4: 24,901,747 N95K probably benign Het
Nms C T 1: 38,941,912 P60S probably benign Het
Npas3 A T 12: 53,501,192 Y77F probably damaging Het
Olfr1158 T A 2: 87,990,149 Y13N probably benign Het
Olfr1173 T A 2: 88,274,845 D68V probably damaging Het
Olfr1412 T A 1: 92,588,551 S74T probably damaging Het
Olfr320 T G 11: 58,683,876 M1R probably null Het
Olfr561 G T 7: 102,775,253 C243F probably damaging Het
Olfr926 A G 9: 38,878,078 M301V probably benign Het
Picalm T C 7: 90,182,246 V429A probably benign Het
Pkhd1l1 T A 15: 44,558,004 I3056N probably damaging Het
Pomt1 G T 2: 32,244,326 M286I probably benign Het
Popdc2 A T 16: 38,369,519 Y176F probably benign Het
Psg21 A T 7: 18,652,485 M192K probably benign Het
Psma1 C A 7: 114,266,439 A219S probably benign Het
Rad21l T G 2: 151,668,469 H22P probably damaging Het
Rnf213 A G 11: 119,479,941 T4791A probably damaging Het
Sdk2 A G 11: 113,821,626 V1609A probably benign Het
Sema3e T A 5: 14,241,043 S606T probably benign Het
Slc16a4 A T 3: 107,311,542 R486S possibly damaging Het
Slc17a3 T C 13: 23,856,784 L331P probably damaging Het
Slc38a11 A T 2: 65,353,815 V164D probably damaging Het
Slc38a6 A G 12: 73,337,053 I173V probably benign Het
Synpo2 T C 3: 123,079,955 T1121A probably benign Het
Tfcp2 T C 15: 100,528,421 D83G possibly damaging Het
Thnsl1 A G 2: 21,211,644 T70A probably damaging Het
Tnfrsf21 A G 17: 43,087,895 I631V probably damaging Het
Tor2a C A 2: 32,757,317 H6Q possibly damaging Het
Ttn T C 2: 76,734,923 N19993S probably benign Het
Vps53 T C 11: 76,138,324 E119G probably damaging Het
Zkscan6 T C 11: 65,814,669 W69R probably damaging Het
Zswim8 T C 14: 20,714,391 S610P probably damaging Het
Other mutations in Baz1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01108:Baz1a APN 12 54916731 missense probably benign
IGL01138:Baz1a APN 12 54930325 missense probably damaging 1.00
IGL01298:Baz1a APN 12 54954809 missense probably damaging 1.00
IGL02639:Baz1a APN 12 54896025 splice site probably benign
IGL02995:Baz1a APN 12 54900447 missense probably damaging 1.00
IGL03104:Baz1a APN 12 54894958 missense probably damaging 1.00
IGL03135:Baz1a APN 12 54929590 missense probably damaging 1.00
IGL03151:Baz1a APN 12 54909149 critical splice acceptor site probably null
IGL03235:Baz1a APN 12 54898535 missense probably damaging 1.00
IGL03240:Baz1a APN 12 54927567 nonsense probably null
Flavia UTSW 12 54975308 missense probably damaging 1.00
gumdrops UTSW 12 54900448 missense probably damaging 1.00
Kilter UTSW 12 54900532 missense probably damaging 0.99
Kisses UTSW 12 54975137 missense probably damaging 1.00
Smootch UTSW 12 54911385 missense probably damaging 1.00
PIT4458001:Baz1a UTSW 12 54930310 missense probably benign 0.03
R0127:Baz1a UTSW 12 54898706 missense possibly damaging 0.93
R0183:Baz1a UTSW 12 54911387 missense probably damaging 1.00
R0393:Baz1a UTSW 12 54918436 critical splice donor site probably null
R0532:Baz1a UTSW 12 54934820 missense possibly damaging 0.55
R0614:Baz1a UTSW 12 54941519 nonsense probably null
R0626:Baz1a UTSW 12 54975270 missense probably damaging 0.99
R0654:Baz1a UTSW 12 54911397 missense probably benign 0.01
R0782:Baz1a UTSW 12 54894488 missense probably damaging 1.00
R0826:Baz1a UTSW 12 54930312 nonsense probably null
R0855:Baz1a UTSW 12 54900563 splice site probably benign
R0927:Baz1a UTSW 12 54894988 missense probably damaging 1.00
R0941:Baz1a UTSW 12 54898431 missense probably benign 0.00
R1079:Baz1a UTSW 12 54895000 missense possibly damaging 0.91
R1157:Baz1a UTSW 12 54929564 missense probably damaging 1.00
R1647:Baz1a UTSW 12 54975198 missense probably damaging 1.00
R1731:Baz1a UTSW 12 54918545 missense possibly damaging 0.83
R1739:Baz1a UTSW 12 54898788 nonsense probably null
R1762:Baz1a UTSW 12 54909020 missense probably damaging 1.00
R1770:Baz1a UTSW 12 54898508 missense probably damaging 1.00
R1968:Baz1a UTSW 12 54900337 missense possibly damaging 0.91
R2037:Baz1a UTSW 12 54929646 missense probably damaging 1.00
R2111:Baz1a UTSW 12 54911385 missense probably damaging 1.00
R2215:Baz1a UTSW 12 54975369 nonsense probably null
R2282:Baz1a UTSW 12 54916812 nonsense probably null
R2875:Baz1a UTSW 12 54923119 missense probably damaging 1.00
R2890:Baz1a UTSW 12 54898517 missense probably benign
R2971:Baz1a UTSW 12 54923439 missense probably damaging 1.00
R3404:Baz1a UTSW 12 54916989 missense probably benign 0.00
R3419:Baz1a UTSW 12 54946899 missense probably benign 0.05
R3699:Baz1a UTSW 12 54917046 missense probably benign 0.09
R3899:Baz1a UTSW 12 54934804 missense probably benign 0.01
R3927:Baz1a UTSW 12 54921143 missense possibly damaging 0.68
R4050:Baz1a UTSW 12 54929619 missense probably benign 0.00
R4072:Baz1a UTSW 12 54941560 missense probably benign 0.18
R4196:Baz1a UTSW 12 54911415 missense probably damaging 1.00
R4289:Baz1a UTSW 12 54900448 missense probably damaging 1.00
R4455:Baz1a UTSW 12 54911368 missense probably benign 0.26
R4583:Baz1a UTSW 12 54922540 missense probably damaging 0.99
R4622:Baz1a UTSW 12 54941515 missense probably benign 0.00
R4807:Baz1a UTSW 12 54898482 missense probably benign 0.28
R4998:Baz1a UTSW 12 54975137 missense probably damaging 1.00
R5239:Baz1a UTSW 12 54898344 missense probably damaging 0.99
R5379:Baz1a UTSW 12 54894348 missense probably damaging 1.00
R5408:Baz1a UTSW 12 54923050 missense probably damaging 1.00
R5678:Baz1a UTSW 12 54900532 missense probably damaging 0.99
R5810:Baz1a UTSW 12 54927715 intron probably benign
R6092:Baz1a UTSW 12 54909083 missense possibly damaging 0.88
R6317:Baz1a UTSW 12 54954800 missense possibly damaging 0.92
R6332:Baz1a UTSW 12 54918554 missense probably benign 0.01
R6803:Baz1a UTSW 12 54941555 missense probably null 0.99
R7185:Baz1a UTSW 12 54975308 missense probably damaging 1.00
R7248:Baz1a UTSW 12 54900508 missense probably damaging 1.00
R7392:Baz1a UTSW 12 54898765 missense probably damaging 1.00
R8009:Baz1a UTSW 12 54895031 nonsense probably null
R8025:Baz1a UTSW 12 54909136 missense probably benign 0.34
Posted On2016-08-02