Incidental Mutation 'R2257:Mybbp1a'
ID 243473
Institutional Source Beutler Lab
Gene Symbol Mybbp1a
Ensembl Gene ENSMUSG00000040463
Gene Name MYB binding protein (P160) 1a
Synonyms p67MBP, p160MBP
MMRRC Submission 040257-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2257 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 72332181-72342594 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72337021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 586 (S586T)
Ref Sequence ENSEMBL: ENSMUSP00000044827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045633]
AlphaFold Q7TPV4
Predicted Effect probably benign
Transcript: ENSMUST00000045633
AA Change: S586T

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000044827
Gene: ENSMUSG00000040463
AA Change: S586T

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: ENSMUST00000144923
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152894
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155995
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162048
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 96% (70/73)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik A T X: 69,438,012 (GRCm39) W94R probably damaging Het
Abcc3 C T 11: 94,254,420 (GRCm39) V693M probably damaging Het
Acp7 A C 7: 28,313,838 (GRCm39) W399G probably damaging Het
Ap1s1 T C 5: 137,070,633 (GRCm39) Y94C possibly damaging Het
Arhgap32 T C 9: 32,158,793 (GRCm39) I186T probably damaging Het
Atg4a A G X: 139,890,984 (GRCm39) I91V probably benign Het
Atp7b T G 8: 22,488,282 (GRCm39) T1102P probably damaging Het
Cabs1 T C 5: 88,128,074 (GRCm39) S242P probably damaging Het
Cass4 T C 2: 172,269,390 (GRCm39) F493L probably damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Cdk14 T A 5: 4,938,924 (GRCm39) M433L probably benign Het
Cep162 C A 9: 87,088,967 (GRCm39) D972Y probably damaging Het
Cfap100 C G 6: 90,390,802 (GRCm39) R184P possibly damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Clasrp A G 7: 19,320,510 (GRCm39) probably benign Het
Copb1 T A 7: 113,853,110 (GRCm39) D29V possibly damaging Het
Cyp2b9 G A 7: 25,873,030 (GRCm39) probably null Het
Dhx36 C T 3: 62,385,064 (GRCm39) G683S probably damaging Het
Dnaaf11 T A 15: 66,309,436 (GRCm39) probably benign Het
Dnah10 T A 5: 124,838,301 (GRCm39) I1110N probably damaging Het
Dnajc3 C G 14: 119,210,114 (GRCm39) P322A probably benign Het
Eml4 A G 17: 83,785,189 (GRCm39) T785A probably damaging Het
Fam228a T C 12: 4,787,775 (GRCm39) probably benign Het
Fam83e A T 7: 45,378,193 (GRCm39) K406* probably null Het
Fam83e A T 7: 45,378,194 (GRCm39) K406M possibly damaging Het
Fam90a1a T A 8: 22,453,533 (GRCm39) L296Q possibly damaging Het
Fat1 A G 8: 45,403,408 (GRCm39) Y53C probably damaging Het
Fcrl2 T C 3: 87,166,928 (GRCm39) I22V probably damaging Het
Fryl T A 5: 73,230,187 (GRCm39) N1657Y possibly damaging Het
Greb1l A G 18: 10,503,307 (GRCm39) M453V possibly damaging Het
Grm8 A T 6: 27,760,224 (GRCm39) C369S probably damaging Het
Hdc G A 2: 126,458,000 (GRCm39) probably null Het
Hsf3 A T X: 95,363,928 (GRCm39) L191* probably null Het
Iqca1l C T 5: 24,757,038 (GRCm39) probably benign Het
Kif4 A T X: 99,769,737 (GRCm39) N1126Y probably benign Het
Lat2 T C 5: 134,631,481 (GRCm39) D191G probably damaging Het
Lipt2 C T 7: 99,808,601 (GRCm39) T38I probably benign Het
Lmo7 T C 14: 102,137,566 (GRCm39) L634P probably damaging Het
Magea2 A T X: 153,810,855 (GRCm39) L243Q probably damaging Het
Mctp2 A G 7: 71,835,568 (GRCm39) L543P probably damaging Het
Mgat4a T C 1: 37,529,394 (GRCm39) N24D probably benign Het
Mical3 A T 6: 121,010,696 (GRCm39) S429T possibly damaging Het
Mrps35 A G 6: 146,972,125 (GRCm39) E256G possibly damaging Het
Myo1e G A 9: 70,285,655 (GRCm39) probably null Het
Nob1 A G 8: 108,143,729 (GRCm39) probably benign Het
Nom1 T A 5: 29,642,750 (GRCm39) V417D probably damaging Het
Nphs1 A T 7: 30,167,417 (GRCm39) I782F possibly damaging Het
Numa1 A G 7: 101,649,998 (GRCm39) E1243G probably damaging Het
Or52e7 A G 7: 104,685,026 (GRCm39) Y207C probably benign Het
Or7g27 A G 9: 19,249,789 (GRCm39) E11G probably benign Het
Padi4 G A 4: 140,487,251 (GRCm39) T217I possibly damaging Het
Pias3 C T 3: 96,606,962 (GRCm39) T75I probably benign Het
Ppp1r37 G T 7: 19,295,943 (GRCm39) probably benign Het
Prrc2a G A 17: 35,380,044 (GRCm39) P185L unknown Het
Prss57 C T 10: 79,623,204 (GRCm39) C81Y probably damaging Het
Psen1 C T 12: 83,761,594 (GRCm39) S132L probably damaging Het
Ranbp6 A G 19: 29,788,949 (GRCm39) S468P possibly damaging Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slc2a9 T C 5: 38,610,542 (GRCm39) T86A probably damaging Het
Slco1a6 A T 6: 142,036,742 (GRCm39) M555K probably benign Het
Thoc1 C A 18: 9,993,466 (GRCm39) D608E possibly damaging Het
Tmem121b A T 6: 120,469,030 (GRCm39) Y562* probably null Het
Tmem121b A G 6: 120,469,032 (GRCm39) Y562H probably damaging Het
Tmprss7 A T 16: 45,506,696 (GRCm39) M122K possibly damaging Het
Tmub1 C A 5: 24,651,922 (GRCm39) G14V possibly damaging Het
Uap1 A T 1: 169,986,312 (GRCm39) probably benign Het
Ugdh A T 5: 65,574,458 (GRCm39) probably benign Het
Vmn2r59 A T 7: 41,661,669 (GRCm39) C715* probably null Het
Vps13a G A 19: 16,659,538 (GRCm39) T1663I possibly damaging Het
Vps13c A C 9: 67,860,228 (GRCm39) I2815L possibly damaging Het
Zc3h3 G T 15: 75,711,415 (GRCm39) Q349K possibly damaging 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
IGL03271:Mybbp1a APN 11 72,334,744 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CAGTGTGACATCCTTGACAACAC -3'
(R):5'- ACTCACACAGATGGAGCAGG -3'

Sequencing Primer
(F):5'- TTGACAACACAGCAGCGTCAG -3'
(R):5'- GCAACTTTCATGCAGGACTG -3'
Posted On 2014-10-16