Incidental Mutation 'R2215:Baz1a'
ID 241108
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 040217-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2215 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 54939774-55061133 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 55022154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 43 (R43*)
Ref Sequence ENSEMBL: ENSMUSP00000134445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038926] [ENSMUST00000172875] [ENSMUST00000173177] [ENSMUST00000173433] [ENSMUST00000173529]
AlphaFold O88379
Predicted Effect probably null
Transcript: ENSMUST00000038926
AA Change: R43*
SMART Domains Protein: ENSMUSP00000039757
Gene: ENSMUSG00000035021
AA Change: R43*

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 null
Transcript: ENSMUST00000172875
AA Change: R43*
SMART Domains Protein: ENSMUSP00000134384
Gene: ENSMUSG00000035021
AA Change: R43*

DomainStartEndE-ValueType
Pfam:WAC_Acf1_DNA_bd 22 122 3e-39 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000173177
AA Change: R43*
SMART Domains Protein: ENSMUSP00000133796
Gene: ENSMUSG00000035021
AA Change: R43*

DomainStartEndE-ValueType
Pfam:WAC_Acf1_DNA_bd 22 86 5.2e-27 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000173433
AA Change: R43*
SMART Domains Protein: ENSMUSP00000133478
Gene: ENSMUSG00000035021
AA Change: R43*

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 null
Transcript: ENSMUST00000173529
AA Change: R43*
SMART Domains Protein: ENSMUSP00000134445
Gene: ENSMUSG00000035021
AA Change: R43*

DomainStartEndE-ValueType
Pfam:WAC_Acf1_DNA_bd 22 82 7.5e-26 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (68/68)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,254,619 (GRCm39) S1899T probably damaging Het
Accs G T 2: 93,672,243 (GRCm39) N208K probably benign Het
Actn4 C A 7: 28,618,178 (GRCm39) V22L possibly damaging Het
Adam21 A G 12: 81,607,064 (GRCm39) S233P probably damaging Het
Adrm1b G A 3: 92,335,730 (GRCm39) A324V probably damaging Het
Agmat C T 4: 141,476,899 (GRCm39) R102C probably benign Het
Akap8l T C 17: 32,540,569 (GRCm39) E608G possibly damaging Het
Arap2 T C 5: 62,834,519 (GRCm39) I788V probably damaging Het
Arhgef12 G T 9: 42,917,167 (GRCm39) H391N probably damaging Het
Arhgef28 G T 13: 98,187,529 (GRCm39) H255Q possibly damaging Het
Bcas3 T C 11: 85,692,769 (GRCm39) S862P probably damaging Het
Blm A T 7: 80,149,595 (GRCm39) H671Q possibly damaging Het
Bmp8a C T 4: 123,218,911 (GRCm39) V166I probably benign Het
Cep120 G T 18: 53,860,707 (GRCm39) P241Q probably damaging Het
Col14a1 G A 15: 55,244,238 (GRCm39) G437E unknown Het
Cyp2a5 T C 7: 26,539,900 (GRCm39) L3S probably damaging Het
D16Ertd472e T C 16: 78,342,155 (GRCm39) T242A probably benign Het
Dach1 A G 14: 98,405,917 (GRCm39) probably null Het
Ddx20 A T 3: 105,587,656 (GRCm39) probably benign Het
Eif4enif1 A G 11: 3,177,476 (GRCm39) S185G probably damaging Het
Ep400 A T 5: 110,841,421 (GRCm39) probably benign Het
Fam117b T A 1: 60,008,219 (GRCm39) I351K probably damaging Het
Fbxo31 T C 8: 122,293,050 (GRCm39) I112V probably benign Het
Galntl5 A T 5: 25,403,476 (GRCm39) N149I probably damaging Het
Gja8 A T 3: 96,827,218 (GRCm39) F148Y probably damaging Het
Gpatch1 A T 7: 34,993,252 (GRCm39) L531Q possibly damaging Het
Gprin1 G A 13: 54,888,046 (GRCm39) T76M probably damaging Het
Htr4 T A 18: 62,546,787 (GRCm39) C113* probably null Het
Igf1r T A 7: 67,814,982 (GRCm39) D294E probably benign Het
Kdm6b G A 11: 69,295,870 (GRCm39) P799L unknown Het
Lat A T 7: 125,967,137 (GRCm39) V139E probably damaging Het
Lrrc34 G A 3: 30,697,678 (GRCm39) R51C probably benign Het
Map3k1 A G 13: 111,892,322 (GRCm39) S978P probably benign Het
Masp1 T A 16: 23,271,271 (GRCm39) D659V possibly damaging Het
Mcam A T 9: 44,051,250 (GRCm39) R415* probably null Het
Mtmr10 A G 7: 63,987,403 (GRCm39) T648A probably benign Het
Myh2 T C 11: 67,082,563 (GRCm39) W1378R probably benign Het
Nipsnap2 A G 5: 129,816,649 (GRCm39) E64G probably damaging Het
Or4a68 T C 2: 89,270,381 (GRCm39) M81V probably benign Het
Or52n4b T C 7: 108,144,095 (GRCm39) L119P probably damaging Het
Or6c3 A T 10: 129,309,289 (GRCm39) I243F probably damaging Het
Or9s27 G A 1: 92,516,708 (GRCm39) V219I probably benign Het
Pcdhb8 T G 18: 37,490,127 (GRCm39) S602A probably damaging Het
Peg10 A T 6: 4,756,918 (GRCm39) probably benign Het
Pld1 A T 3: 28,132,542 (GRCm39) I577F probably benign Het
Plekhm1 A T 11: 103,267,811 (GRCm39) I720N probably damaging Het
Ppp2r1a A G 17: 21,182,005 (GRCm39) probably null Het
Retreg3 G T 11: 101,010,459 (GRCm39) Y49* probably null Het
Rrp36 T C 17: 46,983,746 (GRCm39) E22G possibly damaging Het
Sec14l2 C A 11: 4,059,169 (GRCm39) A167S probably damaging Het
Sema5b A G 16: 35,480,585 (GRCm39) T751A probably damaging Het
Smarcc1 C A 9: 110,066,907 (GRCm39) probably benign Het
Smox T C 2: 131,362,190 (GRCm39) probably null Het
Spats2l A T 1: 57,985,575 (GRCm39) T543S possibly damaging Het
Sppl2a G T 2: 126,769,754 (GRCm39) T34K probably benign Het
Svep1 T C 4: 58,138,602 (GRCm39) probably benign Het
Tet2 T A 3: 133,192,362 (GRCm39) I691F probably benign Het
Tnxb T C 17: 34,923,114 (GRCm39) Y2566H possibly damaging Het
Ttn T C 2: 76,570,853 (GRCm39) E26680G probably damaging Het
Txlna T C 4: 129,533,111 (GRCm39) E139G possibly damaging Het
Ubap2 T C 4: 41,196,483 (GRCm39) probably null Het
Ubr3 A T 2: 69,809,661 (GRCm39) probably null Het
Usp37 A C 1: 74,483,685 (GRCm39) F844V probably damaging Het
Usp6nl A G 2: 6,429,150 (GRCm39) D204G probably damaging Het
Vmn1r230 T C 17: 21,067,684 (GRCm39) I291T probably benign Het
Zfp229 T G 17: 21,965,258 (GRCm39) V496G possibly 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
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'- ATATCGGTCCTTGACATAGGCAAAG -3'
(R):5'- GAACCGGCATTGTAAGCATCTC -3'

Sequencing Primer
(F):5'- CACAGATTTCATGCAAGCGTG -3'
(R):5'- ACCGGCATTGTAAGCATCTCTCTAC -3'
Posted On 2014-10-15