Mutagenetix > Incidental Mutation

Incidental Mutation 'R6647:Crebbp'

526147

Institutional Source

Beutler Lab

Gene Symbol

Crebbp

Ensembl Gene

ENSMUSG00000022521

Gene Name

CREB binding protein

Synonyms

CBP, KAT3A

MMRRC Submission

044768-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6647 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3899198-4031864 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3937670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 698 (A698T)

Ref Sequence

ENSEMBL: ENSMUSP00000146330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023165] [ENSMUST00000205344] [ENSMUST00000205765]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023165
AA Change: A736T

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023165
Gene: ENSMUSG00000022521
AA Change: A736T

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000205344
AA Change: A272T

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

unknown
Transcript: ENSMUST00000205685
AA Change: A159T

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205765
AA Change: A698T

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.0733

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

98% (53/54)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,544,060 (GRCm39)	T1416A	probably damaging	Het
Atp7b	A	G	8: 22,518,494 (GRCm39)	S103P	probably damaging	Het
Ces1h	A	C	8: 94,078,654 (GRCm39)	*563G	probably null	Het
Cfap157	G	T	2: 32,669,086 (GRCm39)	A339E	probably benign	Het
Cyp2b13	A	G	7: 25,785,324 (GRCm39)	H231R	possibly damaging	Het
Ddx31	A	T	2: 28,765,750 (GRCm39)	T483S	probably damaging	Het
Defa25	A	T	8: 21,575,201 (GRCm39)	D60V	possibly damaging	Het
Dnah5	G	A	15: 28,403,633 (GRCm39)	A3453T	probably benign	Het
Dnah6	A	T	6: 73,115,743 (GRCm39)	F1500I	probably damaging	Het
Eprs1	C	T	1: 185,146,621 (GRCm39)	A1217V	probably damaging	Het
Ermp1	T	C	19: 29,604,335 (GRCm39)	Y481C	probably benign	Het
Fmn2	T	A	1: 174,420,670 (GRCm39)	N635K	unknown	Het
Fras1	A	G	5: 96,883,061 (GRCm39)	D2531G	probably damaging	Het
Frat1	C	T	19: 41,819,264 (GRCm39)	Q220*	probably null	Het
Gcc2	T	A	10: 58,123,103 (GRCm39)		probably null	Het
Gm3285	T	C	10: 77,698,447 (GRCm39)		probably benign	Het
Gm9857	T	C	3: 108,847,379 (GRCm39)		probably benign	Het
Grin2b	C	A	6: 135,710,108 (GRCm39)	W1146L	probably damaging	Het
Hells	T	A	19: 38,919,948 (GRCm39)	L33I	probably benign	Het
Ift81	T	A	5: 122,748,229 (GRCm39)	R54*	probably null	Het
Ints12	G	A	3: 132,802,639 (GRCm39)	R41Q	possibly damaging	Het
Katnal2	C	T	18: 77,067,733 (GRCm39)	E403K	probably benign	Het
Kcnk1	A	G	8: 126,722,199 (GRCm39)	M1V	probably null	Het
Kdm5a	A	G	6: 120,389,422 (GRCm39)	T950A	probably benign	Het
Kdr	G	A	5: 76,113,549 (GRCm39)	A773V	probably damaging	Het
Lats1	G	C	10: 7,573,271 (GRCm39)	M118I	possibly damaging	Het
Mug1	A	G	6: 121,817,200 (GRCm39)	I90V	probably benign	Het
Nid2	A	G	14: 19,852,484 (GRCm39)	D1064G	probably benign	Het
Nkx2-4	A	T	2: 146,926,187 (GRCm39)	I225N	possibly damaging	Het
Nlrp4e	A	G	7: 23,020,740 (GRCm39)	D409G	probably benign	Het
Ogfod2	G	C	5: 124,252,866 (GRCm39)	R292P	possibly damaging	Het
Oprk1	C	T	1: 5,672,507 (GRCm39)	P215S	probably damaging	Het
Or5d36	A	T	2: 87,901,053 (GRCm39)	F224L	probably benign	Het
Or6c35	T	A	10: 129,169,033 (GRCm39)	C94*	probably null	Het
Or7g27	T	A	9: 19,249,925 (GRCm39)	H56Q	possibly damaging	Het
Or8g21	T	C	9: 38,906,210 (GRCm39)	I174V	possibly damaging	Het
Pcdhb16	A	G	18: 37,612,225 (GRCm39)	K395R	possibly damaging	Het
Ptprg	C	A	14: 11,962,714 (GRCm38)	P171T	probably damaging	Het
Pycard	T	C	7: 127,592,741 (GRCm39)	T29A	probably benign	Het
Rap1gap2	G	A	11: 74,298,754 (GRCm39)	A452V	probably benign	Het
Rasgrf1	C	G	9: 89,892,516 (GRCm39)	T1072S	probably benign	Het
Rc3h2	G	A	2: 37,272,956 (GRCm39)	R707*	probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Senp7	T	C	16: 55,993,618 (GRCm39)	I767T	probably damaging	Het
Setd7	A	G	3: 51,450,183 (GRCm39)	V81A	probably benign	Het
Shisal2a	A	G	4: 108,225,224 (GRCm39)	S113P	probably benign	Het
Shkbp1	A	G	7: 27,041,800 (GRCm39)	S685P	probably benign	Het
Snrnp200	A	G	2: 127,068,372 (GRCm39)	E904G	probably damaging	Het
Spata22	T	A	11: 73,245,526 (GRCm39)		probably null	Het
Spata31e2	T	A	1: 26,721,659 (GRCm39)	N1174Y	probably damaging	Het
Tas2r138	G	T	6: 40,589,733 (GRCm39)	T171K	possibly damaging	Het
Tor1aip1	T	C	1: 155,893,999 (GRCm39)	D77G	possibly damaging	Het
Vav3	A	T	3: 109,434,732 (GRCm39)	H421L	probably benign	Het
Vmn1r43	A	G	6: 89,846,841 (GRCm39)	L215P	probably damaging	Het
Vmn2r100	T	A	17: 19,742,785 (GRCm39)	S386R	probably benign	Het
Xpa	T	A	4: 46,183,089 (GRCm39)	R233S	probably benign	Het

Other mutations in Crebbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02716:Crebbp	APN	16	3,932,742 (GRCm39)	missense	probably benign	0.22
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
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

Predicted Primers

PCR Primer
(F):5'- AACAATCCTGTTTGTTGGCTAG -3'
(R):5'- GGCTACTACAGTCTGCTCTG -3'

Sequencing Primer
(F):5'- TGTTGGCTAGTTTAAGAAAACAAGG -3'
(R):5'- GGCTACTACAGTCTGCTCTGATTTG -3'

Posted On

2018-06-22