Mutagenetix > Incidental Mutation

Incidental Mutation 'R6836:Crebbp'

534590

Institutional Source

Beutler Lab

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 #

R6836 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3899198-4031864 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3997886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 66 (H66L)

Ref Sequence

ENSEMBL: ENSMUSP00000146330 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023165
AA Change: H66L

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023165
Gene: ENSMUSG00000022521
AA Change: H66L

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: ENSMUST00000205765
AA Change: H66L

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.1107

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	T	C	2: 26,971,718 (GRCm39)	M1T	probably null	Het
Aim2	C	G	1: 173,291,546 (GRCm39)	T317R	probably damaging	Het
Alox8	T	C	11: 69,077,331 (GRCm39)	Y473C	probably damaging	Het
Alox8	T	C	11: 69,080,715 (GRCm39)	R209G	possibly damaging	Het
Asb5	A	G	8: 55,038,106 (GRCm39)	M210V	probably benign	Het
Atp2c2	T	A	8: 120,461,154 (GRCm39)	L249Q	probably damaging	Het
AU018091	T	G	7: 3,213,986 (GRCm39)	D77A	probably damaging	Het
Bahcc1	A	T	11: 120,162,583 (GRCm39)	K294*	probably null	Het
Baz2b	C	T	2: 59,747,769 (GRCm39)	R1298Q	probably damaging	Het
Bivm	T	A	1: 44,182,296 (GRCm39)	N501K	possibly damaging	Het
Bpifb5	T	A	2: 154,069,985 (GRCm39)	I145N	probably benign	Het
Casq2	A	T	3: 101,994,076 (GRCm39)	N41I	probably damaging	Het
Ccdc18	T	C	5: 108,345,833 (GRCm39)	L993P	probably damaging	Het
Cdcp3	A	T	7: 130,798,233 (GRCm39)	I81F	possibly damaging	Het
Cfap44	A	G	16: 44,224,442 (GRCm39)	D50G	probably damaging	Het
Clca3a2	T	A	3: 144,512,144 (GRCm39)	I91F	probably damaging	Het
Cyfip2	T	C	11: 46,163,467 (GRCm39)	T321A	probably benign	Het
Dido1	A	G	2: 180,304,100 (GRCm39)	V1268A	probably benign	Het
E030030I06Rik	A	C	10: 22,024,391 (GRCm39)	V174G	probably damaging	Het
Gm20730	G	T	6: 43,058,767 (GRCm39)		probably null	Het
Gm36176	T	C	10: 77,682,976 (GRCm39)		probably benign	Het
Gper1	T	A	5: 139,412,435 (GRCm39)	M260K	probably damaging	Het
Igfbp2	T	C	1: 72,888,817 (GRCm39)	L89P	probably damaging	Het
Katnal1	T	C	5: 148,830,974 (GRCm39)	N200S	probably damaging	Het
Kcnk13	G	T	12: 100,027,948 (GRCm39)	R341L	probably damaging	Het
Klhl20	T	A	1: 160,932,976 (GRCm39)	E277D	probably benign	Het
Lingo1	T	C	9: 56,527,056 (GRCm39)	Y517C	probably damaging	Het
Lrrk1	C	T	7: 65,992,527 (GRCm39)	E82K	probably benign	Het
Mtor	T	A	4: 148,573,955 (GRCm39)	V1275D	possibly damaging	Het
Ncan	C	T	8: 70,552,965 (GRCm39)	S1089N	possibly damaging	Het
Notch4	C	T	17: 34,805,074 (GRCm39)	T1643I	probably damaging	Het
Or13a25	A	C	7: 140,248,093 (GRCm39)	I298L	possibly damaging	Het
Or1i2	A	G	10: 78,448,424 (GRCm39)	L17P	probably damaging	Het
Or2y15	A	T	11: 49,350,904 (GRCm39)	T133S	possibly damaging	Het
Or4c10	T	C	2: 89,760,683 (GRCm39)	C177R	probably damaging	Het
Pcdhgb6	T	C	18: 37,876,015 (GRCm39)	V241A	probably benign	Het
Phf11b	T	A	14: 59,565,572 (GRCm39)	T102S	possibly damaging	Het
Pkd1	T	A	17: 24,800,233 (GRCm39)	V2998E	probably damaging	Het
Ppp1r13b	T	C	12: 111,801,629 (GRCm39)	S352G	probably benign	Het
Ptprh	C	T	7: 4,554,134 (GRCm39)	V778M	probably damaging	Het
Ptprz1	C	T	6: 23,030,664 (GRCm39)	Q1008*	probably null	Het
Ralgapa1	A	T	12: 55,651,058 (GRCm39)		probably null	Het
Rbm20	G	A	19: 53,802,500 (GRCm39)	G336E	probably damaging	Het
Sdsl	T	C	5: 120,600,167 (GRCm39)	I77V	probably benign	Het
Serpina3b	G	A	12: 104,100,341 (GRCm39)	E308K	probably benign	Het
Sfrp5	G	A	19: 42,190,149 (GRCm39)	T101I	probably damaging	Het
Slc2a13	C	T	15: 91,205,835 (GRCm39)	V451I	probably benign	Het
Slc6a9	C	T	4: 117,725,083 (GRCm39)	A559V	possibly damaging	Het
Spg11	C	T	2: 121,890,016 (GRCm39)	A2109T	probably damaging	Het
Stard9	C	T	2: 120,530,324 (GRCm39)	R2194C	probably benign	Het
Tfeb	T	C	17: 48,097,123 (GRCm39)		probably null	Het
Tiam2	T	A	17: 3,464,655 (GRCm39)	I128N	probably benign	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tpr	T	G	1: 150,312,424 (GRCm39)		probably null	Het
Traf3ip1	T	C	1: 91,448,722 (GRCm39)	I456T	probably benign	Het
Ttll4	T	A	1: 74,728,572 (GRCm39)	D892E	probably damaging	Het
Ubr1	T	A	2: 120,727,156 (GRCm39)		probably null	Het
Vmn2r74	T	A	7: 85,606,630 (GRCm39)	I239F	probably benign	Het
Wdfy3	C	T	5: 102,100,865 (GRCm39)	V251M	probably damaging	Het
Xylb	T	A	9: 119,220,820 (GRCm39)	L531H	probably damaging	Het
Zfp960	T	A	17: 17,308,434 (GRCm39)	C383S	probably damaging	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
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
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'- AGTCTCCTTGGTTCAGAGGG -3'
(R):5'- AGACATGCTAGTAGTCTGTGTG -3'

Sequencing Primer
(F):5'- CTCCTTGGTTCAGAGGGCTCTTG -3'
(R):5'- ACATGCTAGTAGTCTGTGTGAAATG -3'

Posted On

2018-09-12