Mutagenetix > Incidental Mutation

Incidental Mutation 'R0028:Creb1'

15764

Institutional Source

Beutler Lab

Gene Symbol

Creb1

Ensembl Gene

ENSMUSG00000025958

Gene Name

cAMP responsive element binding protein 1

Synonyms

Creb, Creb-1, 2310001E10Rik, 3526402H21Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R0028 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

64571963-64643707 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64609307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 126 (D126G)

Ref Sequence

ENSEMBL: ENSMUSP00000140649 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049932] [ENSMUST00000087366] [ENSMUST00000171164] [ENSMUST00000185594] [ENSMUST00000187811] [ENSMUST00000190348] [ENSMUST00000190876]

AlphaFold

Q01147

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049932
AA Change: D140G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000059973
Gene: ENSMUSG00000025958
AA Change: D140G

Domain	Start	End	E-Value	Type
internal_repeat_1	16	89	5.16e-5	PROSPERO
Pfam:pKID	113	153	7.7e-24	PFAM
low complexity region	162	174	N/A	INTRINSIC
internal_repeat_1	184	260	5.16e-5	PROSPERO
BRLZ	281	339	1.25e-6	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087366
AA Change: D126G

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

SMART Domains

Protein: ENSMUSP00000084624
Gene: ENSMUSG00000025958
AA Change: D126G

Domain	Start	End	E-Value	Type
internal_repeat_1	16	90	1.46e-5	PROSPERO
Pfam:pKID	99	141	5.3e-24	PFAM
low complexity region	148	160	N/A	INTRINSIC
internal_repeat_1	170	247	1.46e-5	PROSPERO
BRLZ	267	325	1.25e-6	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171164
AA Change: D86G

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132860
Gene: ENSMUSG00000025958
AA Change: D86G

Domain	Start	End	E-Value	Type
Pfam:pKID	59	101	9e-24	PFAM
low complexity region	108	120	N/A	INTRINSIC
BRLZ	227	285	1.25e-6	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185594
AA Change: D126G

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

SMART Domains

Protein: ENSMUSP00000139995
Gene: ENSMUSG00000025958
AA Change: D126G

Domain	Start	End	E-Value	Type
internal_repeat_1	16	90	1.46e-5	PROSPERO
Pfam:pKID	99	141	5.3e-24	PFAM
low complexity region	148	160	N/A	INTRINSIC
internal_repeat_1	170	247	1.46e-5	PROSPERO
BRLZ	267	325	1.25e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186335

Predicted Effect

probably damaging
Transcript: ENSMUST00000187811
AA Change: D126G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140649
Gene: ENSMUSG00000025958
AA Change: D126G

Domain	Start	End	E-Value	Type
Pfam:pKID	99	141	3.8e-21	PFAM
low complexity region	148	160	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190348
AA Change: D140G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140112
Gene: ENSMUSG00000025958
AA Change: D140G

Domain	Start	End	E-Value	Type
internal_repeat_1	16	89	5.16e-5	PROSPERO
Pfam:pKID	113	155	1.2e-23	PFAM
low complexity region	162	174	N/A	INTRINSIC
internal_repeat_1	184	260	5.16e-5	PROSPERO
BRLZ	281	339	1.25e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000190876

Meta Mutation Damage Score

0.8091

Coding Region Coverage

1x: 80.7%
3x: 72.7%
10x: 50.3%
20x: 30.1%

Validation Efficiency

96% (74/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds as a homodimer to the cAMP-responsive element, an octameric palindrome. The protein is phosphorylated by several protein kinases, and induces transcription of genes in response to hormonal stimulation of the cAMP pathway. Alternate splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for alleles lacking some or all isotypes exhibit a range of defects involving circadian rhythms, axonal growth, sensory neuron survival, long-term memory, fear conditioning, body size, respiration, and neonatal viability. [provided by MGI curators]

Allele List at MGI

All alleles(85) : Targeted, knock-out(2) Targeted, other(7) Gene trapped(76)

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,596,698 (GRCm39)	F384L	probably benign	Het
AC159748.1	T	C	10: 5,542,006 (GRCm38)		silent	Het
Adamts12	C	T	15: 11,215,710 (GRCm39)	R244C	probably damaging	Het
Bms1	T	C	6: 118,393,480 (GRCm39)	I131V	probably benign	Het
Ccdc107	A	G	4: 43,495,549 (GRCm39)	T151A	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col4a4	A	G	1: 82,465,231 (GRCm39)		probably null	Het
Ddb1	T	A	19: 10,596,610 (GRCm39)	V443E	probably damaging	Het
Dnmt3a	T	A	12: 3,950,337 (GRCm39)	S634T	probably damaging	Het
Fras1	A	C	5: 96,825,175 (GRCm39)	N1455T	probably benign	Het
Fyb1	A	G	15: 6,674,395 (GRCm39)		probably benign	Het
Gpr141	C	T	13: 19,936,599 (GRCm39)	V59M	probably damaging	Het
Ikbke	T	C	1: 131,199,921 (GRCm39)	I222V	possibly damaging	Het
Macf1	A	T	4: 123,275,895 (GRCm39)	H6222Q	probably damaging	Het
Mapk8ip3	C	T	17: 25,123,871 (GRCm39)		probably benign	Het
Phactr1	A	T	13: 43,210,655 (GRCm39)	D74V	probably damaging	Het
Prickle2	T	C	6: 92,399,323 (GRCm39)	I185V	probably benign	Het
Rnasel	A	T	1: 153,630,465 (GRCm39)	D327V	probably benign	Het
Slc25a13	T	C	6: 6,181,047 (GRCm39)	N46D	probably benign	Het
Slc28a2	T	A	2: 122,282,083 (GRCm39)	F261L	probably damaging	Het
Slc6a15	A	T	10: 103,252,541 (GRCm39)	Y568F	probably benign	Het
Slc7a1	A	G	5: 148,272,321 (GRCm39)	V452A	probably benign	Het
Tectb	T	C	19: 55,183,109 (GRCm39)	I330T	probably benign	Het
Tmem92	C	T	11: 94,669,778 (GRCm39)	V118I	possibly damaging	Het
Tmf1	T	C	6: 97,135,059 (GRCm39)	E985G	probably damaging	Het
Traf5	T	A	1: 191,758,421 (GRCm39)		probably benign	Het
Trip11	T	C	12: 101,851,016 (GRCm39)	E731G	probably damaging	Het
Unc5a	A	G	13: 55,151,726 (GRCm39)	S50G	possibly damaging	Het
Wrnip1	T	C	13: 33,004,280 (GRCm39)	L517P	probably damaging	Het
Zfp202	T	A	9: 40,123,048 (GRCm39)	H603Q	probably damaging	Het

Other mutations in Creb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01299:Creb1	APN	1	64,609,284 (GRCm39)	splice site	probably benign
IGL01991:Creb1	APN	1	64,598,913 (GRCm39)	missense	probably benign
IGL03137:Creb1	APN	1	64,615,374 (GRCm39)	missense	possibly damaging	0.95
IGL03408:Creb1	APN	1	64,615,491 (GRCm39)	splice site	probably null
1mM(1):Creb1	UTSW	1	64,613,330 (GRCm39)	nonsense	probably null
R0069:Creb1	UTSW	1	64,615,367 (GRCm39)	missense	possibly damaging	0.91
R0069:Creb1	UTSW	1	64,615,367 (GRCm39)	missense	possibly damaging	0.91
R0506:Creb1	UTSW	1	64,609,426 (GRCm39)	missense	probably damaging	1.00
R1834:Creb1	UTSW	1	64,590,109 (GRCm39)	nonsense	probably null
R1835:Creb1	UTSW	1	64,590,109 (GRCm39)	nonsense	probably null
R1836:Creb1	UTSW	1	64,590,109 (GRCm39)	nonsense	probably null
R7254:Creb1	UTSW	1	64,615,436 (GRCm39)	nonsense	probably null
R7716:Creb1	UTSW	1	64,605,420 (GRCm39)	missense	possibly damaging	0.94
R7934:Creb1	UTSW	1	64,609,372 (GRCm39)	missense	probably benign	0.01
R8275:Creb1	UTSW	1	64,597,687 (GRCm39)	missense	probably benign	0.20
R9005:Creb1	UTSW	1	64,605,478 (GRCm39)	critical splice donor site	probably null
R9431:Creb1	UTSW	1	64,615,413 (GRCm39)	missense	probably damaging	0.99
R9758:Creb1	UTSW	1	64,598,909 (GRCm39)	missense	probably benign

Posted On

2012-12-21