Mutagenetix > Incidental Mutation

Incidental Mutation 'R1103:Crebbp'

98305

Institutional Source

Beutler Lab

Gene Symbol

Crebbp

Ensembl Gene

ENSMUSG00000022521

Gene Name

CREB binding protein

Synonyms

CBP, KAT3A

MMRRC Submission

039176-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1103 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3899198-4031864 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3901925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2438 (V2438A)

Ref Sequence

ENSEMBL: ENSMUSP00000023165 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000023165
AA Change: V2438A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023165
Gene: ENSMUSG00000022521
AA Change: V2438A

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

noncoding transcript
Transcript: ENSMUST00000191387

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205765
AA Change: V2400A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205945

Predicted Effect

probably benign
Transcript: ENSMUST00000206464

Meta Mutation Damage Score

0.0810

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.7%

Validation Efficiency

97% (60/62)

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
1700056E22Rik	C	T	1: 183,765,702 (GRCm39)	S119N	probably benign	Het
4930524J08Rik	G	A	5: 100,126,980 (GRCm39)		probably benign	Het
Adam3	T	A	8: 25,204,287 (GRCm39)		probably benign	Het
Adpgk	A	G	9: 59,221,079 (GRCm39)	H295R	probably damaging	Het
Aftph	A	T	11: 20,676,547 (GRCm39)	M199K	probably benign	Het
Ap2a1	C	A	7: 44,553,593 (GRCm39)		probably benign	Het
Atpaf2	T	C	11: 60,294,776 (GRCm39)	I216V	probably benign	Het
Bag4	A	T	8: 26,257,891 (GRCm39)		probably benign	Het
Bltp1	A	T	3: 37,050,672 (GRCm39)	M3003L	probably benign	Het
Bud23	T	C	5: 135,089,993 (GRCm39)	S67G	probably damaging	Het
Cfap157	A	G	2: 32,671,410 (GRCm39)	F132S	probably damaging	Het
Cngb3	G	A	4: 19,309,658 (GRCm39)		probably null	Het
Cntnap5a	A	G	1: 116,508,399 (GRCm39)	I1304V	possibly damaging	Het
Cp	A	G	3: 20,036,149 (GRCm39)	K764E	possibly damaging	Het
Csmd3	A	T	15: 47,811,402 (GRCm39)	W1230R	probably damaging	Het
Cul1	G	A	6: 47,494,111 (GRCm39)	V475I	probably benign	Het
Dnttip2	T	C	3: 122,070,071 (GRCm39)	S429P	probably benign	Het
Dtwd1	T	C	2: 125,996,643 (GRCm39)	S43P	probably damaging	Het
Ect2l	T	C	10: 18,016,274 (GRCm39)	T705A	probably damaging	Het
Erbin	G	T	13: 104,022,710 (GRCm39)	T43N	probably benign	Het
Fcgbpl1	G	T	7: 27,853,945 (GRCm39)	L1636F	probably damaging	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Gpr150	G	T	13: 76,203,712 (GRCm39)	P411Q	probably damaging	Het
Grap	C	A	11: 61,562,544 (GRCm39)	Q172K	probably benign	Het
Ido2	G	A	8: 25,066,239 (GRCm39)	T9M	probably benign	Het
Klkb1	C	A	8: 45,729,183 (GRCm39)	C347F	probably damaging	Het
Klra17	G	A	6: 129,845,806 (GRCm39)		probably benign	Het
Lama1	T	C	17: 68,097,942 (GRCm39)	L1774P	probably damaging	Het
Lhpp	A	T	7: 132,212,484 (GRCm39)	D17V	probably damaging	Het
Lrfn4	T	C	19: 4,663,299 (GRCm39)	T412A	probably benign	Het
Lrrc7	C	T	3: 157,854,343 (GRCm39)		probably benign	Het
Ltbp3	A	T	19: 5,797,439 (GRCm39)		probably null	Het
Ltbp3	G	C	19: 5,797,440 (GRCm39)		probably null	Het
Luzp1	T	A	4: 136,268,041 (GRCm39)	L88Q	possibly damaging	Het
Magi2	T	C	5: 20,816,101 (GRCm39)	I747T	probably damaging	Het
Map1b	A	T	13: 99,563,974 (GRCm39)		probably benign	Het
Map3k4	A	T	17: 12,455,950 (GRCm39)		probably null	Het
Map3k5	C	A	10: 19,899,422 (GRCm39)	D226E	probably benign	Het
Mtf1	T	A	4: 124,732,261 (GRCm39)	S440T	probably benign	Het
Myo18a	T	A	11: 77,714,156 (GRCm39)	L389Q	probably damaging	Het
Myom2	A	G	8: 15,160,827 (GRCm39)	D900G	probably benign	Het
Nfasc	T	C	1: 132,534,795 (GRCm39)		probably benign	Het
Obscn	A	T	11: 58,912,309 (GRCm39)	S7044R	probably damaging	Het
Or5bw2	T	A	7: 6,573,111 (GRCm39)	N40K	probably damaging	Het
Or5e1	T	C	7: 108,354,090 (GRCm39)	V9A	possibly damaging	Het
Or6k4	T	C	1: 173,964,457 (GRCm39)	V49A	probably benign	Het
Pde4c	T	A	8: 71,201,066 (GRCm39)	H421Q	probably damaging	Het
Pnmt	G	T	11: 98,278,502 (GRCm39)	R156L	probably benign	Het
Pramel22	A	C	4: 143,381,942 (GRCm39)	C251W	probably damaging	Het
Rnf138	A	G	18: 21,159,159 (GRCm39)	E193G	probably damaging	Het
Sesn1	G	T	10: 41,778,589 (GRCm39)	R346L	possibly damaging	Het
Setd4	G	T	16: 93,382,082 (GRCm39)	H390Q	probably benign	Het
Supt6	T	C	11: 78,116,299 (GRCm39)	E688G	possibly damaging	Het
Syne2	G	A	12: 76,156,609 (GRCm39)	D6802N	probably benign	Het
Syt16	A	G	12: 74,313,672 (GRCm39)	K533E	probably damaging	Het
Tg	A	T	15: 66,591,504 (GRCm39)	Q26H	probably benign	Het
Trim33	G	T	3: 103,218,201 (GRCm39)	W250L	probably damaging	Het
Trip4	A	G	9: 65,788,188 (GRCm39)	C86R	probably benign	Het
Upf2	T	A	2: 6,030,986 (GRCm39)	C809S	unknown	Het
Vrk2	A	G	11: 26,499,325 (GRCm39)	F76L	probably damaging	Het
Zfp804a	A	G	2: 82,087,844 (GRCm39)	T558A	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
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

Predicted Primers

PCR Primer
(F):5'- CTTCCACACTTGGGAGTCACAGTC -3'
(R):5'- GCAGATCGCCACATCCCTTAGTAAC -3'

Sequencing Primer
(F):5'- GGGAGGAGaaaaacaaaacaaaac -3'
(R):5'- TTAGTAACCAGGTGCGATCTC -3'

Posted On

2014-01-05