Incidental Mutation 'R2111:Baz1a'
ID 232578
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 040115-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2111 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 54939774-55061133 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 54958170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 1027 (N1027I)
Ref Sequence ENSEMBL: ENSMUSP00000039757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038926] [ENSMUST00000173433]
AlphaFold O88379
Predicted Effect probably damaging
Transcript: ENSMUST00000038926
AA Change: N1027I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039757
Gene: ENSMUSG00000035021
AA Change: N1027I

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 damaging
Transcript: ENSMUST00000173433
AA Change: N1024I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000133478
Gene: ENSMUSG00000035021
AA Change: N1024I

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 0.0876 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (86/86)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330161L09Rik T C 12: 103,373,848 (GRCm39) probably benign Het
Abca2 A T 2: 25,327,517 (GRCm39) I669F possibly damaging Het
Adam9 C T 8: 25,472,142 (GRCm39) probably benign Het
Adprhl1 A G 8: 13,298,694 (GRCm39) Y79H probably damaging Het
Akp3 A T 1: 87,054,607 (GRCm39) probably null Het
Alpk2 T C 18: 65,482,845 (GRCm39) S388G probably benign Het
Amph G A 13: 19,300,436 (GRCm39) probably benign Het
Arr3 T A X: 99,658,247 (GRCm39) F269L possibly damaging Het
Atp2a2 A G 5: 122,597,609 (GRCm39) F808S probably damaging Het
C2cd4c G T 10: 79,448,255 (GRCm39) H297Q probably damaging Het
Calr3 T A 8: 73,181,112 (GRCm39) D160V probably damaging Het
Cdc42ep1 C T 15: 78,731,692 (GRCm39) R46C probably damaging Het
Cdh23 G T 10: 60,141,362 (GRCm39) F3127L probably damaging Het
Cfhr4 T A 1: 139,702,417 (GRCm39) probably benign Het
Cps1 T A 1: 67,216,139 (GRCm39) D821E probably benign Het
Cyp2e1 C A 7: 140,353,547 (GRCm39) T328K probably damaging Het
Dcp1a T C 14: 30,241,327 (GRCm39) V379A probably benign Het
Dst T C 1: 34,208,259 (GRCm39) S737P probably damaging Het
Dtx2 C T 5: 136,059,431 (GRCm39) S493F probably damaging Het
Eci2 A G 13: 35,174,699 (GRCm39) probably null Het
Ercc6l2 A G 13: 63,982,563 (GRCm39) T126A probably damaging Het
Fgf6 T C 6: 126,992,723 (GRCm39) S59P probably damaging Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Gapvd1 G T 2: 34,574,329 (GRCm39) A1256D probably benign Het
Gcfc2 C A 6: 81,900,759 (GRCm39) D24E probably benign Het
Gigyf2 A G 1: 87,368,452 (GRCm39) H1044R probably damaging Het
Gk2 T C 5: 97,604,164 (GRCm39) I225V probably benign Het
Gm3944 C A 12: 18,903,895 (GRCm39) S8* probably null Het
Gnl3l A G X: 149,780,290 (GRCm39) S217P probably damaging Het
Gpr156 A G 16: 37,799,113 (GRCm39) D109G probably benign Het
Hoxd1 A T 2: 74,593,710 (GRCm39) T89S probably benign Het
Ift172 G A 5: 31,443,423 (GRCm39) T112M probably benign Het
Igkv1-115 C A 6: 68,138,613 (GRCm39) S72* probably null Het
Ildr1 A G 16: 36,542,341 (GRCm39) E247G probably damaging Het
Insr A G 8: 3,219,748 (GRCm39) S925P probably benign Het
Itpr1 T G 6: 108,355,270 (GRCm39) probably benign Het
Khdrbs3 C T 15: 68,896,673 (GRCm39) T111I probably benign Het
Mageb3 A G 2: 121,785,306 (GRCm39) probably null Het
Mcf2l A T 8: 13,051,867 (GRCm39) K433N probably damaging Het
Mdn1 A G 4: 32,700,409 (GRCm39) E1456G probably damaging Het
Mta1 C T 12: 113,095,248 (GRCm39) T467I probably damaging Het
Mtr A T 13: 12,259,487 (GRCm39) I196N possibly damaging Het
Mtus1 G T 8: 41,475,608 (GRCm39) P819T probably damaging Het
Myh1 G A 11: 67,105,446 (GRCm39) D1079N possibly damaging Het
Nav1 C T 1: 135,376,742 (GRCm39) R1694Q probably damaging Het
Neb A G 2: 52,174,275 (GRCm39) I1528T probably benign Het
Nek1 T A 8: 61,577,360 (GRCm39) probably null Het
Nes A G 3: 87,884,618 (GRCm39) E915G probably benign Het
Nlrp4f T C 13: 65,347,167 (GRCm39) I30M probably benign Het
Nup153 A G 13: 46,837,404 (GRCm39) S1273P probably benign Het
Nup155 A G 15: 8,150,951 (GRCm39) I334V probably benign Het
Or10j2 A T 1: 173,097,879 (GRCm39) M46L probably benign Het
Or1e1f A G 11: 73,855,740 (GRCm39) Y102C probably damaging Het
Or5b3 G A 19: 13,388,307 (GRCm39) A125T probably damaging Het
Or5d41 A G 2: 88,054,818 (GRCm39) V186A possibly damaging Het
Or6d13 T C 6: 116,517,611 (GRCm39) Y66H possibly damaging Het
Or8b46 T A 9: 38,450,576 (GRCm39) N128K probably benign Het
Or8k38 G T 2: 86,488,781 (GRCm39) T7K probably damaging Het
Parn G A 16: 13,420,933 (GRCm39) S473L probably damaging Het
Pcnt T C 10: 76,256,360 (GRCm39) K627E probably damaging Het
Pja2 T A 17: 64,597,031 (GRCm39) D553V probably damaging Het
Prune2 T C 19: 17,185,602 (GRCm39) F3004L probably damaging Het
Rasgrp3 T C 17: 75,807,753 (GRCm39) probably null Het
Rdh13 A G 7: 4,448,482 (GRCm39) V10A probably benign Het
Rimbp2 T C 5: 128,850,565 (GRCm39) Y906C probably damaging Het
Ripor1 T C 8: 106,341,344 (GRCm39) F59S probably damaging Het
Rnf185 T C 11: 3,382,393 (GRCm39) probably benign Het
Runx3 T C 4: 134,882,627 (GRCm39) V107A probably damaging Het
Scn3b T C 9: 40,193,741 (GRCm39) V156A probably benign Het
Serpina3a G A 12: 104,082,481 (GRCm39) A85T probably damaging Het
Slc12a7 C T 13: 73,933,274 (GRCm39) R111* probably null Het
Slc5a5 A T 8: 71,342,395 (GRCm39) probably null Het
Snx13 A T 12: 35,188,084 (GRCm39) L787F probably damaging Het
Spef2 A T 15: 9,589,659 (GRCm39) M1535K probably damaging Het
Sphkap T G 1: 83,253,602 (GRCm39) K1382N probably benign Het
Tagap1 A G 17: 7,224,259 (GRCm39) S146P probably benign Het
Tagln3 A G 16: 45,531,957 (GRCm39) Y192H probably damaging Het
Tbc1d15 A C 10: 115,076,819 (GRCm39) S22A possibly damaging Het
Tbc1d31 A G 15: 57,796,040 (GRCm39) E211G probably benign Het
Tmod3 A G 9: 75,416,645 (GRCm39) V229A probably damaging Het
Ubr2 A G 17: 47,274,071 (GRCm39) probably null Het
Ugt2b36 T C 5: 87,240,100 (GRCm39) E95G probably benign Het
Unc45b G A 11: 82,802,515 (GRCm39) A4T probably benign Het
Usp40 A G 1: 87,877,936 (GRCm39) I1117T probably benign Het
Vcan T A 13: 89,841,422 (GRCm39) D414V probably damaging Het
Xrn1 C A 9: 95,921,885 (GRCm39) H1433N probably benign Het
Zfp353-ps T A 8: 42,536,005 (GRCm39) noncoding transcript Het
Zfp74 G A 7: 29,634,443 (GRCm39) Q422* probably null Het
Zmym3 A T X: 100,450,993 (GRCm39) V1208D 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
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
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'- GACCTCCAAGCTCAGAAGAG -3'
(R):5'- TTCCTCTGTTCTAGAATGTGCATG -3'

Sequencing Primer
(F):5'- GGCTATCCAGGAACTCACTCTGTAG -3'
(R):5'- TACAGGTTACAGACCGAC -3'
Posted On 2014-09-18