Mutagenetix > Incidental Mutation

Incidental Mutation 'R6146:Crebbp'

488907

Institutional Source

Beutler Lab

Gene Symbol

Crebbp

Ensembl Gene

ENSMUSG00000022521

Gene Name

CREB binding protein

Synonyms

CBP, KAT3A

MMRRC Submission

044293-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6146 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3899198-4031864 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 3902487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 2213 (Q2213*)

Ref Sequence

ENSEMBL: ENSMUSP00000146330 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000023165
AA Change: Q2251*

SMART Domains

Protein: ENSMUSP00000023165
Gene: ENSMUSG00000022521
AA Change: Q2251*

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

probably null
Transcript: ENSMUST00000205765
AA Change: Q2213*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205945

Predicted Effect

probably benign
Transcript: ENSMUST00000206464

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 8,946,587 (GRCm39)	E29G	probably benign	Het
Abi3bp	T	C	16: 56,491,628 (GRCm39)	S552P	probably damaging	Het
Adgrg7	A	G	16: 56,593,829 (GRCm39)	I129T	probably benign	Het
Adhfe1	A	G	1: 9,623,943 (GRCm39)	N148S	probably damaging	Het
AI182371	A	G	2: 34,987,983 (GRCm39)	Y77H	probably damaging	Het
Aldh5a1	C	T	13: 25,103,661 (GRCm39)		probably null	Het
Ankrd2	A	G	19: 42,028,544 (GRCm39)	T67A	possibly damaging	Het
Anln	A	T	9: 22,287,604 (GRCm39)	C232*	probably null	Het
Cchcr1	A	G	17: 35,839,475 (GRCm39)	D587G	possibly damaging	Het
Cgn	G	T	3: 94,674,435 (GRCm39)	Q901K	possibly damaging	Het
Cip2a	A	T	16: 48,814,692 (GRCm39)	K18*	probably null	Het
Cluh	G	T	11: 74,558,054 (GRCm39)		probably null	Het
Cyp2d22	T	A	15: 82,258,036 (GRCm39)		probably null	Het
Dcdc2a	T	C	13: 25,389,440 (GRCm39)	V456A	probably benign	Het
Depdc5	A	G	5: 33,126,075 (GRCm39)	E569G	probably benign	Het
Dnah5	T	C	15: 28,459,331 (GRCm39)	F4517L	probably benign	Het
Doc2b	T	C	11: 75,664,421 (GRCm39)	K317E	probably damaging	Het
Dysf	T	A	6: 84,180,181 (GRCm39)	D1951E	probably damaging	Het
Epha6	C	A	16: 60,245,198 (GRCm39)	A334S	possibly damaging	Het
F2rl2	A	C	13: 95,837,149 (GRCm39)	I65L	probably benign	Het
Fbxw17	A	G	13: 50,586,548 (GRCm39)	K417E	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fxr2	A	G	11: 69,532,165 (GRCm39)	M96V	possibly damaging	Het
Kcnj10	C	A	1: 172,196,892 (GRCm39)	Y135*	probably null	Het
Kidins220	G	A	12: 25,102,812 (GRCm39)	R1238Q	probably damaging	Het
Krt31	T	C	11: 99,939,056 (GRCm39)	N255S	probably benign	Het
Lrp2	T	C	2: 69,341,345 (GRCm39)	D945G	probably benign	Het
Lrrc66	T	C	5: 73,765,432 (GRCm39)	D537G	probably benign	Het
Ltbp4	T	A	7: 27,019,149 (GRCm39)	I992F	probably damaging	Het
Lzts1	A	G	8: 69,593,524 (GRCm39)	S28P	probably benign	Het
Mrc2	C	A	11: 105,216,470 (GRCm39)	N86K	probably damaging	Het
Mroh6	C	A	15: 75,758,486 (GRCm39)	A302S	possibly damaging	Het
Muc16	T	A	9: 18,409,093 (GRCm39)	N198Y	probably damaging	Het
Myo9a	T	C	9: 59,778,512 (GRCm39)	S1423P	probably benign	Het
Or10ag58	A	T	2: 87,265,662 (GRCm39)	D277V	possibly damaging	Het
Or2b28	A	T	13: 21,531,164 (GRCm39)	Y22F	possibly damaging	Het
Or5h22	A	G	16: 58,895,077 (GRCm39)	V122A	probably benign	Het
Or5p56	G	T	7: 107,589,620 (GRCm39)	G16V	probably damaging	Het
Or5w17	A	C	2: 87,583,602 (GRCm39)	L245R	probably damaging	Het
Or9g4	T	A	2: 85,504,938 (GRCm39)	K186*	probably null	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Polg	T	C	7: 79,100,260 (GRCm39)	M1184V	probably benign	Het
Prl8a8	T	C	13: 27,694,463 (GRCm39)	Y108C	probably damaging	Het
Proser1	T	A	3: 53,385,540 (GRCm39)	I474N	probably damaging	Het
Rab44	A	G	17: 29,354,391 (GRCm39)		probably benign	Het
Rbp1	C	A	9: 98,307,669 (GRCm39)	D79E	possibly damaging	Het
Rnf213	T	C	11: 119,326,825 (GRCm39)	V1605A	probably benign	Het
Rps24	A	T	14: 24,540,803 (GRCm39)		probably null	Het
Setd5	T	C	6: 113,098,773 (GRCm39)		probably null	Het
Skic3	A	G	13: 76,333,359 (GRCm39)	E1536G	probably damaging	Het
Slc38a3	T	C	9: 107,532,228 (GRCm39)	I435V	probably benign	Het
Slco1a5	T	A	6: 142,180,534 (GRCm39)	M623L	probably benign	Het
Spaca9	G	A	2: 28,583,793 (GRCm39)	R64W	probably damaging	Het
Spn	A	G	7: 126,735,479 (GRCm39)	S343P	possibly damaging	Het
Sptan1	A	G	2: 29,894,535 (GRCm39)	T1168A	probably benign	Het
Sptbn4	A	T	7: 27,064,012 (GRCm39)	L2138*	probably null	Het
Tg	T	A	15: 66,545,216 (GRCm39)		probably null	Het
Tigd5	T	A	15: 75,782,094 (GRCm39)	L152Q	probably damaging	Het
Tmem163	C	T	1: 127,447,126 (GRCm39)	V170I	probably benign	Het
Tpr	T	C	1: 150,298,913 (GRCm39)	C1068R	possibly damaging	Het
Ubr1	A	T	2: 120,723,690 (GRCm39)	Y1290N	probably damaging	Het
Vmn1r184	T	A	7: 25,966,817 (GRCm39)	F188I	probably benign	Het
Vmn2r100	G	A	17: 19,742,522 (GRCm39)	V299I	probably benign	Het
Vmn2r91	T	G	17: 18,356,518 (GRCm39)	H728Q	probably benign	Het
Vta1	T	C	10: 14,581,096 (GRCm39)	Y37C	probably damaging	Het
Wbp2	C	A	11: 115,974,728 (GRCm39)	M35I	probably benign	Het
Zcchc9	G	A	13: 91,953,986 (GRCm39)	Q90*	probably null	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
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'- GGTGACCCAATTTGTTGCTTC -3'
(R):5'- GCTCTGAACATCATGAACCCAG -3'

Sequencing Primer
(F):5'- GTGACCCAATTTGTTGCTTCATCTG -3'
(R):5'- TCCACAGTACCGAGAAATGGTG -3'

Posted On

2017-10-10