Incidental Mutation 'IGL03271:Mybbp1a'
ID 415285
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mybbp1a
Ensembl Gene ENSMUSG00000040463
Gene Name MYB binding protein (P160) 1a
Synonyms p67MBP, p160MBP
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03271
Quality Score
Status
Chromosome 11
Chromosomal Location 72332181-72342594 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 72334744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000044827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045633]
AlphaFold Q7TPV4
Predicted Effect probably benign
Transcript: ENSMUST00000045633
SMART Domains Protein: ENSMUSP00000044827
Gene: ENSMUSG00000040463

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
Pfam:DNA_pol_phi 70 835 1.2e-194 PFAM
low complexity region 839 852 N/A INTRINSIC
low complexity region 1080 1090 N/A INTRINSIC
low complexity region 1109 1122 N/A INTRINSIC
low complexity region 1259 1269 N/A INTRINSIC
low complexity region 1314 1329 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134119
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144374
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152894
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162048
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleolar transcriptional regulator that was first identified by its ability to bind specifically to the Myb proto-oncogene protein. The encoded protein is thought to play a role in many cellular processes including response to nucleolar stress, tumor suppression and synthesis of ribosomal DNA. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a targeted allele exhibit embryonic lethality before blastocyst formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 G T 13: 111,392,408 (GRCm39) V248L probably benign Het
Actl6b T A 5: 137,564,246 (GRCm39) I256N probably damaging Het
Agl G T 3: 116,572,776 (GRCm39) T825K probably benign Het
Arid5b A T 10: 67,933,287 (GRCm39) S629T possibly damaging Het
Atp13a2 T C 4: 140,727,708 (GRCm39) I495T possibly damaging Het
Bcl6 G T 16: 23,788,756 (GRCm39) H537Q probably benign Het
Cdh12 A G 15: 21,586,539 (GRCm39) E786G probably benign Het
Cep290 T A 10: 100,373,663 (GRCm39) N1307K probably benign Het
Cops3 A T 11: 59,723,889 (GRCm39) N89K probably damaging Het
Cyp4a29 T C 4: 115,111,705 (GRCm39) V494A probably damaging Het
Dlg1 A G 16: 31,676,710 (GRCm39) H675R possibly damaging Het
Dnajc6 T A 4: 101,365,274 (GRCm39) probably benign Het
Dock10 C A 1: 80,483,126 (GRCm39) K2107N probably damaging Het
Dop1a T A 9: 86,386,275 (GRCm39) L382* probably null Het
Faxc A C 4: 21,948,757 (GRCm39) K156N possibly damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gapvd1 C A 2: 34,617,219 (GRCm39) probably benign Het
Gfm1 T C 3: 67,382,076 (GRCm39) Y717H probably damaging Het
Gm4884 A T 7: 40,692,699 (GRCm39) T223S probably benign Het
Gstm3 C A 3: 107,873,513 (GRCm39) V153F possibly damaging Het
H2-M10.5 G T 17: 37,084,243 (GRCm39) L68F possibly damaging Het
Hmcn1 G T 1: 150,474,175 (GRCm39) H4756N possibly damaging Het
Ift140 C A 17: 25,306,880 (GRCm39) R872S probably damaging Het
Lars2 T A 9: 123,288,549 (GRCm39) probably null Het
Ltbp4 A G 7: 27,029,240 (GRCm39) V149A unknown Het
Mpp2 A T 11: 101,954,249 (GRCm39) probably benign Het
Nxpe4 C A 9: 48,304,345 (GRCm39) P144Q probably damaging Het
Or13p3 T A 4: 118,566,982 (GRCm39) I126N probably damaging Het
Or5p6 C T 7: 107,630,714 (GRCm39) V279M probably damaging Het
Parp4 C A 14: 56,823,082 (GRCm39) N67K probably benign Het
Pdk1 G T 2: 71,710,374 (GRCm39) probably benign Het
Phip A T 9: 82,766,877 (GRCm39) probably benign Het
Pls1 A G 9: 95,658,883 (GRCm39) S202P probably benign Het
Pmpcb A G 5: 21,943,874 (GRCm39) Y36C probably benign Het
Pole T C 5: 110,466,185 (GRCm39) S1296P probably benign Het
Ptpn13 T C 5: 103,610,014 (GRCm39) S4P probably damaging Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Sec61a2 A T 2: 5,887,745 (GRCm39) L79* probably null Het
Slc2a5 T C 4: 150,220,040 (GRCm39) L152P probably damaging Het
Smu1 C T 4: 40,738,408 (GRCm39) G442D probably benign Het
Spag16 T A 1: 69,892,511 (GRCm39) N97K probably benign Het
Spag6l C T 16: 16,598,592 (GRCm39) D300N probably damaging Het
Sult3a1 A G 10: 33,739,997 (GRCm39) T19A probably benign Het
Ttll6 A G 11: 96,047,513 (GRCm39) H704R probably benign Het
Uba1 T A X: 20,541,956 (GRCm39) D569E probably damaging Het
Umodl1 T A 17: 31,205,473 (GRCm39) Y689* probably null Het
Unc80 A G 1: 66,734,762 (GRCm39) probably benign Het
Utp15 C A 13: 98,390,202 (GRCm39) V282F probably damaging Het
Vmn1r184 A G 7: 25,967,034 (GRCm39) Y260C probably benign Het
Vmn1r69 A G 7: 10,314,596 (GRCm39) V45A probably benign Het
Vmn2r4 C A 3: 64,305,850 (GRCm39) R524L probably benign Het
Other mutations in Mybbp1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Mybbp1a APN 11 72,334,393 (GRCm39) missense probably damaging 1.00
IGL03240:Mybbp1a APN 11 72,336,492 (GRCm39) missense possibly damaging 0.95
IGL03344:Mybbp1a APN 11 72,336,028 (GRCm39) missense probably damaging 1.00
fratelli UTSW 11 72,336,538 (GRCm39) missense probably benign 0.02
primi UTSW 11 72,333,727 (GRCm39) splice site probably null
sorelli UTSW 11 72,338,585 (GRCm39) missense possibly damaging 0.94
R0276:Mybbp1a UTSW 11 72,340,933 (GRCm39) splice site probably null
R0437:Mybbp1a UTSW 11 72,339,674 (GRCm39) missense possibly damaging 0.75
R0551:Mybbp1a UTSW 11 72,339,202 (GRCm39) missense probably benign 0.06
R1394:Mybbp1a UTSW 11 72,334,474 (GRCm39) missense probably damaging 1.00
R1667:Mybbp1a UTSW 11 72,336,043 (GRCm39) missense probably benign 0.00
R1888:Mybbp1a UTSW 11 72,336,863 (GRCm39) missense probably benign 0.18
R1888:Mybbp1a UTSW 11 72,336,863 (GRCm39) missense probably benign 0.18
R1891:Mybbp1a UTSW 11 72,336,863 (GRCm39) missense probably benign 0.18
R1894:Mybbp1a UTSW 11 72,336,863 (GRCm39) missense probably benign 0.18
R2074:Mybbp1a UTSW 11 72,332,271 (GRCm39) missense probably benign 0.01
R2257:Mybbp1a UTSW 11 72,337,021 (GRCm39) missense probably benign 0.10
R3739:Mybbp1a UTSW 11 72,339,563 (GRCm39) missense possibly damaging 0.77
R3983:Mybbp1a UTSW 11 72,337,996 (GRCm39) missense probably damaging 1.00
R4191:Mybbp1a UTSW 11 72,342,113 (GRCm39) missense probably damaging 0.97
R4660:Mybbp1a UTSW 11 72,336,538 (GRCm39) missense probably benign 0.02
R4667:Mybbp1a UTSW 11 72,338,797 (GRCm39) missense possibly damaging 0.94
R4769:Mybbp1a UTSW 11 72,336,466 (GRCm39) missense probably damaging 1.00
R4982:Mybbp1a UTSW 11 72,336,040 (GRCm39) missense probably damaging 0.99
R5451:Mybbp1a UTSW 11 72,338,939 (GRCm39) missense probably damaging 0.99
R5514:Mybbp1a UTSW 11 72,341,462 (GRCm39) missense possibly damaging 0.61
R5548:Mybbp1a UTSW 11 72,336,998 (GRCm39) missense probably damaging 1.00
R5673:Mybbp1a UTSW 11 72,335,751 (GRCm39) missense probably benign 0.30
R5947:Mybbp1a UTSW 11 72,333,257 (GRCm39) missense probably damaging 1.00
R6161:Mybbp1a UTSW 11 72,336,838 (GRCm39) missense probably damaging 1.00
R6785:Mybbp1a UTSW 11 72,338,392 (GRCm39) missense probably benign 0.00
R7154:Mybbp1a UTSW 11 72,338,468 (GRCm39) splice site probably null
R7227:Mybbp1a UTSW 11 72,338,585 (GRCm39) missense possibly damaging 0.94
R7238:Mybbp1a UTSW 11 72,334,338 (GRCm39) missense probably damaging 1.00
R7441:Mybbp1a UTSW 11 72,342,101 (GRCm39) missense probably benign 0.01
R7833:Mybbp1a UTSW 11 72,333,727 (GRCm39) splice site probably null
R8213:Mybbp1a UTSW 11 72,335,547 (GRCm39) missense probably damaging 1.00
R8324:Mybbp1a UTSW 11 72,336,114 (GRCm39) critical splice donor site probably null
R8474:Mybbp1a UTSW 11 72,338,563 (GRCm39) missense probably benign 0.01
R8972:Mybbp1a UTSW 11 72,337,076 (GRCm39) missense probably benign 0.35
R9018:Mybbp1a UTSW 11 72,334,420 (GRCm39) missense probably benign 0.09
R9380:Mybbp1a UTSW 11 72,333,668 (GRCm39) missense probably benign 0.24
R9505:Mybbp1a UTSW 11 72,339,897 (GRCm39) missense probably benign 0.26
X0050:Mybbp1a UTSW 11 72,332,503 (GRCm39) critical splice acceptor site probably null
Posted On 2016-08-02