Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01457:Crebbp'

84838

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01457

Quality Score

Status

Chromosome

Chromosomal Location

3899198-4031864 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3942632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 196 (I196L)

Ref Sequence

ENSEMBL: ENSMUSP00000146029 (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: I660L

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023165
Gene: ENSMUSG00000022521
AA Change: I660L

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 damaging
Transcript: ENSMUST00000205344
AA Change: I196L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

unknown
Transcript: ENSMUST00000205685
AA Change: I98L

Predicted Effect

probably damaging
Transcript: ENSMUST00000205765
AA Change: I622L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,382,908 (GRCm39)	Y1019F	probably benign	Het
4930455H04Rik	T	G	3: 116,762,200 (GRCm39)		probably benign	Het
9830107B12Rik	A	T	17: 48,439,193 (GRCm39)		probably benign	Het
Abcc8	A	G	7: 45,784,917 (GRCm39)	V737A	possibly damaging	Het
Adamts20	T	A	15: 94,229,329 (GRCm39)	Y930F	probably damaging	Het
Alkbh8	T	A	9: 3,369,825 (GRCm39)	F365I	probably damaging	Het
App	G	A	16: 84,900,127 (GRCm39)	H108Y	probably damaging	Het
Bfsp1	T	C	2: 143,669,564 (GRCm39)		probably benign	Het
Bltp3b	T	C	10: 89,641,624 (GRCm39)	S932P	probably benign	Het
Cabin1	T	C	10: 75,578,263 (GRCm39)	N478S	probably damaging	Het
Camsap3	G	A	8: 3,654,795 (GRCm39)	V796I	probably damaging	Het
Carns1	A	T	19: 4,216,498 (GRCm39)		probably null	Het
Ccdc121	A	T	5: 31,644,771 (GRCm39)	I175L	probably benign	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Cltc	C	T	11: 86,593,074 (GRCm39)	M1600I	probably benign	Het
Cnot1	T	A	8: 96,467,637 (GRCm39)	N1499Y	probably damaging	Het
Drc3	C	A	11: 60,249,475 (GRCm39)		probably benign	Het
Fam161a	T	A	11: 22,970,702 (GRCm39)	Y234*	probably null	Het
Il1r1	C	A	1: 40,352,330 (GRCm39)	P500Q	probably damaging	Het
Katnal1	G	T	5: 148,830,607 (GRCm39)		probably benign	Het
Klhdc2	A	G	12: 69,343,827 (GRCm39)	N20S	probably benign	Het
Kmt2e	A	T	5: 23,707,017 (GRCm39)	T1527S	possibly damaging	Het
Magi1	C	T	6: 93,724,205 (GRCm39)	G270D	probably damaging	Het
Mdn1	T	A	4: 32,715,922 (GRCm39)	S2035T	possibly damaging	Het
Mki67	A	T	7: 135,301,275 (GRCm39)	M1253K	probably benign	Het
Myh7	T	C	14: 55,226,336 (GRCm39)	M435V	possibly damaging	Het
Myh8	A	G	11: 67,183,505 (GRCm39)	I739V	probably benign	Het
Npnt	T	C	3: 132,591,743 (GRCm39)	K430R	probably damaging	Het
Nrdc	A	G	4: 108,904,857 (GRCm39)	N696S	probably benign	Het
Oit3	T	C	10: 59,261,306 (GRCm39)		probably benign	Het
Or51a10	A	G	7: 103,699,376 (GRCm39)	Y62H	probably damaging	Het
Or51s1	A	G	7: 102,558,926 (GRCm39)	I40T	possibly damaging	Het
Or5bw2	A	G	7: 6,573,211 (GRCm39)	T74A	probably benign	Het
Or5p6	A	T	7: 107,631,328 (GRCm39)	I74K	possibly damaging	Het
Pkd1	G	A	17: 24,813,795 (GRCm39)		probably null	Het
Plat	A	G	8: 23,266,844 (GRCm39)	M279V	probably benign	Het
Prkd1	A	T	12: 50,439,693 (GRCm39)	L378*	probably null	Het
Rasgef1a	C	T	6: 118,061,506 (GRCm39)	T157I	probably benign	Het
Rbm22	A	G	18: 60,693,929 (GRCm39)	N11S	probably damaging	Het
Ros1	T	C	10: 51,922,426 (GRCm39)		probably benign	Het
Sema6d	T	A	2: 124,495,562 (GRCm39)	F3Y	unknown	Het
Sis	T	C	3: 72,868,354 (GRCm39)	D112G	probably benign	Het
Slit1	C	A	19: 41,599,483 (GRCm39)	G1023C	probably damaging	Het
Spata31h1	C	A	10: 82,120,568 (GRCm39)	K4147N	probably damaging	Het
Sptb	T	C	12: 76,659,329 (GRCm39)		probably benign	Het
Sspo	T	C	6: 48,475,277 (GRCm39)	I4881T	probably benign	Het
Supt6	C	A	11: 78,111,969 (GRCm39)	D1038Y	probably damaging	Het
Tbc1d2b	A	T	9: 90,087,144 (GRCm39)	L945Q	probably damaging	Het
Tgfbr3	G	T	5: 107,297,764 (GRCm39)	A212E	probably damaging	Het
Tipin	A	G	9: 64,211,690 (GRCm39)	T259A	probably benign	Het
Traip	T	C	9: 107,847,671 (GRCm39)	S365P	probably benign	Het
Tst	T	C	15: 78,283,967 (GRCm39)	T287A	probably benign	Het
Tube1	C	T	10: 39,021,718 (GRCm39)		probably benign	Het
Vmn1r37	T	A	6: 66,708,393 (GRCm39)	N6K	probably damaging	Het
Vmn2r111	C	A	17: 22,790,966 (GRCm39)	E111*	probably null	Het
Vmn2r17	C	T	5: 109,600,898 (GRCm39)	T732I	probably benign	Het
Vmn2r69	A	T	7: 85,055,836 (GRCm39)	D767E	possibly 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
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
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

Posted On

2013-11-11