Incidental Mutation 'IGL02716:Crebbp'
ID 304756
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crebbp
Ensembl Gene ENSMUSG00000022521
Gene Name CREB binding protein
Synonyms CBP, KAT3A
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02716
Quality Score
Status
Chromosome 16
Chromosomal Location 3899198-4031864 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3932742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 586 (E586G)
Ref Sequence ENSEMBL: ENSMUSP00000146029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023165] [ENSMUST00000205344] [ENSMUST00000205765]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023165
AA Change: E1050G

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000023165
Gene: ENSMUSG00000022521
AA Change: E1050G

DomainStartEndE-ValueType
low complexity region 47 58 N/A INTRINSIC
low complexity region 75 89 N/A INTRINSIC
low complexity region 95 105 N/A INTRINSIC
low complexity region 213 233 N/A INTRINSIC
low complexity region 261 272 N/A INTRINSIC
ZnF_TAZ 347 432 2.31e-32 SMART
low complexity region 494 516 N/A INTRINSIC
Pfam:KIX 586 666 1.4e-42 PFAM
low complexity region 874 893 N/A INTRINSIC
low complexity region 909 958 N/A INTRINSIC
low complexity region 1045 1065 N/A INTRINSIC
BROMO 1085 1195 4.26e-43 SMART
Blast:KAT11 1265 1308 3e-15 BLAST
KAT11 1343 1649 4.25e-137 SMART
ZnF_ZZ 1702 1743 2.17e-15 SMART
ZnF_TAZ 1767 1845 6.8e-30 SMART
low complexity region 1847 1877 N/A INTRINSIC
low complexity region 1884 1914 N/A INTRINSIC
low complexity region 1942 1971 N/A INTRINSIC
Pfam:Creb_binding 2019 2115 8.2e-38 PFAM
low complexity region 2147 2161 N/A INTRINSIC
low complexity region 2197 2216 N/A INTRINSIC
low complexity region 2260 2279 N/A INTRINSIC
low complexity region 2286 2304 N/A INTRINSIC
low complexity region 2343 2378 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205344
AA Change: E586G

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000205685
Predicted Effect probably benign
Transcript: ENSMUST00000205765
AA Change: E1012G

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
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 is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygotes for null or altered alleles die around midgestation with defects in hemopoiesis, blood vessel formation, and neural tube closure. Heterozygotes may exhibit skeletal, cardiac, and hematopoietic defects, retarded growth, and hematologic tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 T C 11: 54,218,102 (GRCm39) S212P probably benign Het
Ago2 C T 15: 72,983,576 (GRCm39) R711Q possibly damaging Het
Akp3 A C 1: 87,053,201 (GRCm39) D91A probably damaging Het
Arhgap12 T A 18: 6,111,857 (GRCm39) Q169L possibly damaging Het
Aspm A G 1: 139,407,425 (GRCm39) Y2104C probably damaging Het
Baz2b G A 2: 59,792,868 (GRCm39) S420L possibly damaging Het
Cenpo T C 12: 4,265,390 (GRCm39) N210S possibly damaging Het
Chadl T C 15: 81,580,116 (GRCm39) N40D probably damaging Het
Cts7 T A 13: 61,504,422 (GRCm39) Q47L probably benign Het
Cyp2c40 C A 19: 39,795,980 (GRCm39) D133Y possibly damaging Het
Dnah3 A T 7: 119,536,246 (GRCm39) M3679K probably damaging Het
Dym T C 18: 75,419,754 (GRCm39) Y642H probably damaging Het
Efr3b T C 12: 4,034,627 (GRCm39) D65G probably damaging Het
Elmo1 T A 13: 20,633,672 (GRCm39) F445I probably damaging Het
Epdr1 C T 13: 19,778,740 (GRCm39) V119M probably benign Het
Epha4 G T 1: 77,357,602 (GRCm39) R799S probably damaging Het
Esyt3 A T 9: 99,199,277 (GRCm39) V778E probably damaging Het
F10 A T 8: 13,098,177 (GRCm39) K127* probably null Het
Fcgbp G A 7: 27,800,859 (GRCm39) E1302K probably damaging Het
Fer1l4 A G 2: 155,871,635 (GRCm39) F1382L probably damaging Het
Fhad1 T C 4: 141,645,642 (GRCm39) I318V possibly damaging Het
Fscn2 A T 11: 120,257,550 (GRCm39) T304S probably benign Het
Gab1 A T 8: 81,496,323 (GRCm39) L659Q probably damaging Het
Gm4845 A C 1: 141,184,576 (GRCm39) noncoding transcript Het
Gm572 A G 4: 148,739,327 (GRCm39) M52V probably benign Het
Hmgcr T C 13: 96,796,520 (GRCm39) probably null Het
Kcnk5 T C 14: 20,231,496 (GRCm39) T9A probably damaging Het
Krt87 A C 15: 101,332,485 (GRCm39) F243V possibly damaging Het
Lyset A G 12: 102,711,088 (GRCm39) T104A probably benign Het
Mast1 G T 8: 85,662,352 (GRCm39) P52Q probably damaging Het
Mcf2l A T 8: 13,047,277 (GRCm39) Q211L probably benign Het
Mtrex T G 13: 113,019,680 (GRCm39) D810A probably benign Het
Mtus2 C A 5: 148,173,120 (GRCm39) P968T probably benign Het
Mylk2 T C 2: 152,764,073 (GRCm39) *614R probably null Het
Myo15b A T 11: 115,774,535 (GRCm39) E2049V probably benign Het
Myo6 A T 9: 80,176,976 (GRCm39) H581L probably damaging Het
Numb A T 12: 83,847,982 (GRCm39) S241T possibly damaging Het
Or1j10 A G 2: 36,267,355 (GRCm39) D189G possibly damaging Het
Or4k77 A T 2: 111,199,126 (GRCm39) I50F probably benign Het
Or4x11 G T 2: 89,868,138 (GRCm39) V292L probably benign Het
Phldb2 A G 16: 45,621,953 (GRCm39) S676P probably damaging Het
Rttn G A 18: 89,066,541 (GRCm39) E1196K possibly damaging Het
Slc13a3 G A 2: 165,248,635 (GRCm39) P548S unknown Het
Slc2a7 A G 4: 150,244,467 (GRCm39) probably benign Het
Slc37a1 T C 17: 31,547,135 (GRCm39) S261P possibly damaging Het
Spryd3 T A 15: 102,041,896 (GRCm39) Y42F possibly damaging Het
Srrm3 A G 5: 135,883,287 (GRCm39) probably null Het
Stambp G A 6: 83,533,372 (GRCm39) T297I probably damaging Het
Sypl1 T A 12: 33,017,668 (GRCm39) Y129N probably damaging Het
Syt14 G A 1: 192,662,843 (GRCm39) P368S possibly damaging Het
Tas2r122 T C 6: 132,688,227 (GRCm39) D222G probably damaging Het
Tead2 C A 7: 44,881,720 (GRCm39) Y79* probably null Het
Uso1 T C 5: 92,321,794 (GRCm39) V229A probably damaging Het
Vmn1r238 A G 18: 3,123,124 (GRCm39) S97P probably damaging Het
Vmn2r82 T A 10: 79,213,678 (GRCm39) V88D probably benign Het
Vps29 A G 5: 122,500,129 (GRCm39) T85A probably benign Het
Wdr90 T A 17: 26,076,194 (GRCm39) S500C probably damaging Het
Zfp958 G A 8: 4,675,967 (GRCm39) probably null Het
Other mutations in Crebbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01086:Crebbp APN 16 3,997,416 (GRCm39) missense probably benign
IGL01366:Crebbp APN 16 3,944,370 (GRCm39) missense probably damaging 1.00
IGL01457:Crebbp APN 16 3,942,632 (GRCm39) missense probably damaging 0.99
IGL01713:Crebbp APN 16 3,946,512 (GRCm39) missense possibly damaging 0.79
IGL02382:Crebbp APN 16 3,925,934 (GRCm39) missense probably damaging 1.00
IGL02513:Crebbp APN 16 3,944,469 (GRCm39) splice site probably null
IGL02519:Crebbp APN 16 3,919,457 (GRCm39) missense possibly damaging 0.80
IGL02533:Crebbp APN 16 3,925,296 (GRCm39) missense probably damaging 1.00
IGL02582:Crebbp APN 16 3,902,141 (GRCm39) missense possibly damaging 0.87
IGL02600:Crebbp APN 16 3,972,882 (GRCm39) missense probably benign
IGL02736:Crebbp APN 16 3,972,774 (GRCm39) missense probably benign 0.00
IGL03349:Crebbp APN 16 3,935,222 (GRCm39) missense possibly damaging 0.69
enchanting UTSW 16 3,937,670 (GRCm39) missense possibly damaging 0.92
Intriguing UTSW 16 3,997,886 (GRCm39) missense possibly damaging 0.83
Rivetting UTSW 16 3,909,753 (GRCm39) missense probably damaging 1.00
Stunning UTSW 16 3,909,792 (GRCm39) missense probably damaging 1.00
Suggestive UTSW 16 3,925,991 (GRCm39) missense probably damaging 1.00
PIT4418001:Crebbp UTSW 16 3,932,689 (GRCm39) missense probably benign 0.02
R0022:Crebbp UTSW 16 3,903,092 (GRCm39) missense probably damaging 1.00
R0029:Crebbp UTSW 16 3,935,307 (GRCm39) missense probably damaging 1.00
R0098:Crebbp UTSW 16 3,909,792 (GRCm39) missense probably damaging 1.00
R0098:Crebbp UTSW 16 3,909,792 (GRCm39) missense probably damaging 1.00
R0125:Crebbp UTSW 16 3,935,105 (GRCm39) splice site probably benign
R0126:Crebbp UTSW 16 3,901,927 (GRCm39) missense possibly damaging 0.94
R0140:Crebbp UTSW 16 3,935,363 (GRCm39) missense probably damaging 1.00
R0546:Crebbp UTSW 16 3,903,671 (GRCm39) missense probably damaging 0.99
R0705:Crebbp UTSW 16 3,972,874 (GRCm39) missense possibly damaging 0.95
R0801:Crebbp UTSW 16 3,906,140 (GRCm39) missense probably damaging 1.00
R1103:Crebbp UTSW 16 3,901,925 (GRCm39) missense probably damaging 0.97
R1225:Crebbp UTSW 16 3,944,820 (GRCm39) missense probably benign 0.04
R1421:Crebbp UTSW 16 3,942,511 (GRCm39) missense probably damaging 1.00
R1513:Crebbp UTSW 16 3,933,749 (GRCm39) missense probably damaging 1.00
R1531:Crebbp UTSW 16 3,902,381 (GRCm39) missense probably benign 0.04
R1860:Crebbp UTSW 16 3,905,600 (GRCm39) missense possibly damaging 0.68
R1941:Crebbp UTSW 16 3,997,555 (GRCm39) missense probably benign
R1953:Crebbp UTSW 16 3,997,313 (GRCm39) missense probably benign 0.23
R1992:Crebbp UTSW 16 3,946,561 (GRCm39) splice site probably null
R2000:Crebbp UTSW 16 3,902,116 (GRCm39) missense probably damaging 0.98
R2006:Crebbp UTSW 16 3,902,617 (GRCm39) unclassified probably benign
R2022:Crebbp UTSW 16 3,903,683 (GRCm39) missense probably damaging 1.00
R2044:Crebbp UTSW 16 3,902,687 (GRCm39) missense probably benign 0.04
R2185:Crebbp UTSW 16 3,902,002 (GRCm39) missense probably damaging 0.99
R2203:Crebbp UTSW 16 3,956,641 (GRCm39) missense possibly damaging 0.72
R2349:Crebbp UTSW 16 3,956,774 (GRCm39) missense probably damaging 1.00
R2430:Crebbp UTSW 16 3,914,329 (GRCm39) missense probably damaging 1.00
R2438:Crebbp UTSW 16 3,972,722 (GRCm39) missense possibly damaging 0.90
R2842:Crebbp UTSW 16 3,927,062 (GRCm39) missense probably damaging 1.00
R2896:Crebbp UTSW 16 3,956,680 (GRCm39) missense probably damaging 1.00
R2920:Crebbp UTSW 16 3,936,946 (GRCm39) missense probably damaging 0.98
R3118:Crebbp UTSW 16 3,927,062 (GRCm39) missense probably damaging 1.00
R3894:Crebbp UTSW 16 3,913,966 (GRCm39) missense probably benign 0.11
R4177:Crebbp UTSW 16 3,937,663 (GRCm39) missense possibly damaging 0.48
R4692:Crebbp UTSW 16 3,932,727 (GRCm39) missense possibly damaging 0.64
R4790:Crebbp UTSW 16 3,997,983 (GRCm39) missense probably damaging 0.98
R4884:Crebbp UTSW 16 3,906,239 (GRCm39) missense probably damaging 1.00
R4957:Crebbp UTSW 16 3,935,231 (GRCm39) missense probably benign 0.14
R5109:Crebbp UTSW 16 3,906,295 (GRCm39) intron probably benign
R5121:Crebbp UTSW 16 3,911,375 (GRCm39) missense probably damaging 1.00
R5420:Crebbp UTSW 16 3,925,322 (GRCm39) missense probably damaging 1.00
R5455:Crebbp UTSW 16 3,903,831 (GRCm39) missense probably benign 0.45
R5485:Crebbp UTSW 16 3,932,777 (GRCm39) missense probably benign
R5660:Crebbp UTSW 16 3,972,722 (GRCm39) missense possibly damaging 0.90
R5724:Crebbp UTSW 16 3,905,499 (GRCm39) unclassified probably benign
R5771:Crebbp UTSW 16 3,937,636 (GRCm39) missense probably benign 0.03
R5825:Crebbp UTSW 16 3,905,606 (GRCm39) missense probably damaging 0.99
R5919:Crebbp UTSW 16 3,925,991 (GRCm39) missense probably damaging 1.00
R5965:Crebbp UTSW 16 3,905,525 (GRCm39) unclassified probably benign
R6021:Crebbp UTSW 16 3,903,282 (GRCm39) missense probably damaging 1.00
R6146:Crebbp UTSW 16 3,902,487 (GRCm39) nonsense probably null
R6521:Crebbp UTSW 16 3,936,992 (GRCm39) missense probably damaging 0.99
R6571:Crebbp UTSW 16 3,937,670 (GRCm39) missense possibly damaging 0.92
R6617:Crebbp UTSW 16 3,937,670 (GRCm39) missense possibly damaging 0.92
R6618:Crebbp UTSW 16 3,937,670 (GRCm39) missense possibly damaging 0.92
R6634:Crebbp UTSW 16 3,937,670 (GRCm39) missense possibly damaging 0.92
R6646:Crebbp UTSW 16 3,937,670 (GRCm39) missense possibly damaging 0.92
R6647:Crebbp UTSW 16 3,937,670 (GRCm39) missense possibly damaging 0.92
R6766:Crebbp UTSW 16 3,935,364 (GRCm39) missense probably damaging 1.00
R6836:Crebbp UTSW 16 3,997,886 (GRCm39) missense possibly damaging 0.83
R7022:Crebbp UTSW 16 3,935,187 (GRCm39) missense probably damaging 0.98
R7210:Crebbp UTSW 16 3,902,121 (GRCm39) missense possibly damaging 0.95
R7568:Crebbp UTSW 16 3,944,353 (GRCm39) missense probably benign 0.34
R7672:Crebbp UTSW 16 3,902,574 (GRCm39) missense probably benign 0.06
R8145:Crebbp UTSW 16 3,946,389 (GRCm39) missense probably benign 0.03
R8152:Crebbp UTSW 16 3,902,945 (GRCm39) missense possibly damaging 0.95
R8374:Crebbp UTSW 16 3,902,175 (GRCm39) missense probably damaging 0.99
R8392:Crebbp UTSW 16 3,902,145 (GRCm39) missense possibly damaging 0.49
R8679:Crebbp UTSW 16 3,902,322 (GRCm39) missense probably damaging 0.99
R8738:Crebbp UTSW 16 3,936,952 (GRCm39) missense probably benign 0.07
R8756:Crebbp UTSW 16 3,903,767 (GRCm39) missense probably benign 0.01
R8847:Crebbp UTSW 16 3,902,891 (GRCm39) missense probably benign 0.01
R8950:Crebbp UTSW 16 4,031,023 (GRCm39) missense probably damaging 0.98
R8958:Crebbp UTSW 16 4,031,172 (GRCm39) start gained probably benign
R8964:Crebbp UTSW 16 3,909,753 (GRCm39) missense probably damaging 1.00
R8972:Crebbp UTSW 16 3,925,935 (GRCm39) missense probably benign 0.17
R9069:Crebbp UTSW 16 3,903,187 (GRCm39) missense probably benign
R9155:Crebbp UTSW 16 3,914,346 (GRCm39) missense probably damaging 1.00
R9240:Crebbp UTSW 16 3,917,537 (GRCm39) critical splice donor site probably null
R9414:Crebbp UTSW 16 3,925,356 (GRCm39) missense probably damaging 1.00
R9500:Crebbp UTSW 16 3,911,355 (GRCm39) missense probably damaging 0.98
R9549:Crebbp UTSW 16 3,903,111 (GRCm39) missense probably benign 0.03
R9663:Crebbp UTSW 16 3,933,654 (GRCm39) missense probably damaging 0.99
X0012:Crebbp UTSW 16 3,905,629 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16