Mutagenetix > Incidental Mutation

Incidental Mutation 'R8847:Crebbp'

674784

Institutional Source

Beutler Lab

Gene Symbol

Crebbp

Ensembl Gene

ENSMUSG00000022521

Gene Name

CREB binding protein

Synonyms

CBP, KAT3A

MMRRC Submission

068735-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8847 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3899198-4031864 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3902891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 2116 (M2116T)

Ref Sequence

ENSEMBL: ENSMUSP00000023165 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000023165
AA Change: M2116T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000023165
Gene: ENSMUSG00000022521
AA Change: M2116T

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

probably benign
Transcript: ENSMUST00000205765
AA Change: M2078T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000206464

Coding Region Coverage

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

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	C	8: 41,206,746 (GRCm39)	R4T	probably benign	Het
Alk	T	A	17: 72,256,820 (GRCm39)	I680F	probably benign	Het
Best3	A	G	10: 116,824,572 (GRCm39)	T13A	possibly damaging	Het
Ccdc7b	A	G	8: 129,872,082 (GRCm39)	D59G		Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Cic	G	A	7: 24,970,631 (GRCm39)	V121M	probably damaging	Het
Clasp1	C	G	1: 118,506,705 (GRCm39)	P1280R	probably damaging	Het
Col6a5	A	T	9: 105,741,472 (GRCm39)	N2482K	possibly damaging	Het
Ddn	T	C	15: 98,704,794 (GRCm39)	E166G	possibly damaging	Het
Dennd6a	C	T	14: 26,327,086 (GRCm39)	T249I	probably benign	Het
Diaph1	A	T	18: 37,987,590 (GRCm39)	D1055E	possibly damaging	Het
Dnajc13	C	A	9: 104,057,360 (GRCm39)	G1547*	probably null	Het
Dvl1	C	T	4: 155,942,611 (GRCm39)	R626C	possibly damaging	Het
Fer1l6	A	C	15: 58,414,012 (GRCm39)	K13Q	possibly damaging	Het
Fry	G	A	5: 150,309,472 (GRCm39)	E639K		Het
Gm6408	G	T	5: 146,420,602 (GRCm39)	V161L	probably benign	Het
Gpatch8	A	T	11: 102,372,010 (GRCm39)	N509K	unknown	Het
Hycc2	G	T	1: 58,595,713 (GRCm39)	P55Q	probably damaging	Het
Ints13	T	C	6: 146,457,631 (GRCm39)	T416A	probably benign	Het
Iqcf6	A	T	9: 106,504,650 (GRCm39)	M105L	probably damaging	Het
Magi3	C	A	3: 103,922,334 (GRCm39)	R1461L	probably benign	Het
Map3k8	A	T	18: 4,333,889 (GRCm39)	L401Q		Het
Miga2	G	T	2: 30,273,990 (GRCm39)	R542L	probably damaging	Het
Mphosph9	A	T	5: 124,454,209 (GRCm39)	V96E	possibly damaging	Het
Nek5	T	C	8: 22,613,595 (GRCm39)	S28G	probably benign	Het
Niban1	A	G	1: 151,575,929 (GRCm39)	E351G	probably damaging	Het
Notch4	A	G	17: 34,803,962 (GRCm39)		probably benign	Het
Npc1	A	G	18: 12,323,987 (GRCm39)	L1275P	probably damaging	Het
Nphp4	C	T	4: 152,590,863 (GRCm39)	R287C	probably damaging	Het
Or10ak11	T	C	4: 118,686,821 (GRCm39)	D271G	probably damaging	Het
Or13a20	G	C	7: 140,232,326 (GRCm39)	A145P	possibly damaging	Het
Or1j13	G	A	2: 36,369,483 (GRCm39)	R220*	probably null	Het
Or1p1c	C	T	11: 74,160,443 (GRCm39)	T76I	probably damaging	Het
Parn	A	T	16: 13,446,270 (GRCm39)	L343*	probably null	Het
Pax5	T	A	4: 44,691,865 (GRCm39)	D127V	probably benign	Het
Peak1	C	A	9: 56,114,427 (GRCm39)	D1505Y	probably damaging	Het
Perm1	C	T	4: 156,302,068 (GRCm39)	T204I	probably benign	Het
Pid1	A	T	1: 84,093,694 (GRCm39)	S65T	unknown	Het
Pkn2	A	G	3: 142,526,401 (GRCm39)	V392A	probably benign	Het
Plekhh2	A	G	17: 84,878,479 (GRCm39)	D578G	probably benign	Het
Ppp4r4	T	A	12: 103,562,747 (GRCm39)	L572Q	probably damaging	Het
Pum3	G	A	19: 27,398,713 (GRCm39)	T279M	probably damaging	Het
Rasa2	A	G	9: 96,458,402 (GRCm39)	V266A	possibly damaging	Het
Sirpb1c	C	T	3: 15,886,584 (GRCm39)	W264*	probably null	Het
Slc35g3	A	T	11: 69,651,399 (GRCm39)	Y195*	probably null	Het
Slk	T	A	19: 47,607,632 (GRCm39)	H289Q		Het
Spef2	T	C	15: 9,668,913 (GRCm39)	S758G	probably benign	Het
Spon2	C	T	5: 33,371,841 (GRCm39)	A322T	probably benign	Het
Spred2	T	C	11: 19,951,064 (GRCm39)	L87P	probably benign	Het
Stk10	A	G	11: 32,539,427 (GRCm39)	D269G		Het
Tex48	T	A	4: 63,530,772 (GRCm39)		probably benign	Het
Themis2	T	A	4: 132,513,509 (GRCm39)	H239L	probably damaging	Het
Tle4	T	A	19: 14,493,737 (GRCm39)	R199*	probably null	Het
Tlr11	C	T	14: 50,600,182 (GRCm39)	H723Y	possibly damaging	Het
Trdj2	T	A	14: 54,374,237 (GRCm39)	S1T		Het
Vdac1	T	G	11: 52,267,230 (GRCm39)	S44A		Het
Vill	C	T	9: 118,897,514 (GRCm39)	T647I	probably damaging	Het
Vmn1r61	A	G	7: 5,613,817 (GRCm39)	C166R	probably damaging	Het
Vmn2r114	T	A	17: 23,528,986 (GRCm39)	N372I	probably damaging	Het
Vmn2r120	T	A	17: 57,816,217 (GRCm39)	M713L	probably benign	Het
Vmn2r61	T	C	7: 41,950,010 (GRCm39)	V810A	probably damaging	Het
Vmn2r65	A	T	7: 84,590,212 (GRCm39)	L568Q	probably damaging	Het
Wdr7	T	C	18: 63,872,293 (GRCm39)	V409A	probably damaging	Het
Ylpm1	C	A	12: 85,061,672 (GRCm39)	N524K	unknown	Het
Zfp958	A	C	8: 4,678,434 (GRCm39)	H153P	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
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
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'- TGATGTTCAGAGCTTGTCCC -3'
(R):5'- TGTAATGTCCATGCAGGCCC -3'

Sequencing Primer
(F):5'- TCAGAGCTTGTCCCTGGGG -3'
(R):5'- ACGGATGCCCAATGTGCAG -3'

Posted On

2021-07-15