Incidental Mutation 'IGL03408:Creb1'
ID421684
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Creb1
Ensembl Gene ENSMUSG00000025958
Gene NamecAMP responsive element binding protein 1
Synonyms3526402H21Rik, Creb-1, 2310001E10Rik, Creb
Accession Numbers

Genbank: NM_009952.2, NM_133828.2, NM_001037726.1

Is this an essential gene? Probably essential (E-score: 0.894) question?
Stock #IGL03408
Quality Score
Status
Chromosome1
Chromosomal Location64532645-64604548 bp(+) (GRCm38)
Type of Mutationsplice site (3 bp from exon)
DNA Base Change (assembly) A to G at 64576332 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049932] [ENSMUST00000049932] [ENSMUST00000087366] [ENSMUST00000087366] [ENSMUST00000171164] [ENSMUST00000171164] [ENSMUST00000185594] [ENSMUST00000185594] [ENSMUST00000187811] [ENSMUST00000187811] [ENSMUST00000190348] [ENSMUST00000190348] [ENSMUST00000190876]
Predicted Effect probably null
Transcript: ENSMUST00000049932
SMART Domains Protein: ENSMUSP00000059973
Gene: ENSMUSG00000025958

DomainStartEndE-ValueType
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 probably null
Transcript: ENSMUST00000049932
SMART Domains Protein: ENSMUSP00000059973
Gene: ENSMUSG00000025958

DomainStartEndE-ValueType
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 probably null
Transcript: ENSMUST00000087366
SMART Domains Protein: ENSMUSP00000084624
Gene: ENSMUSG00000025958

DomainStartEndE-ValueType
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 probably null
Transcript: ENSMUST00000087366
SMART Domains Protein: ENSMUSP00000084624
Gene: ENSMUSG00000025958

DomainStartEndE-ValueType
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 probably null
Transcript: ENSMUST00000171164
SMART Domains Protein: ENSMUSP00000132860
Gene: ENSMUSG00000025958

DomainStartEndE-ValueType
Pfam:pKID 59 101 9e-24 PFAM
low complexity region 108 120 N/A INTRINSIC
BRLZ 227 285 1.25e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000171164
SMART Domains Protein: ENSMUSP00000132860
Gene: ENSMUSG00000025958

DomainStartEndE-ValueType
Pfam:pKID 59 101 9e-24 PFAM
low complexity region 108 120 N/A INTRINSIC
BRLZ 227 285 1.25e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000185594
SMART Domains Protein: ENSMUSP00000139995
Gene: ENSMUSG00000025958

DomainStartEndE-ValueType
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 probably null
Transcript: ENSMUST00000185594
SMART Domains Protein: ENSMUSP00000139995
Gene: ENSMUSG00000025958

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000187811
SMART Domains Protein: ENSMUSP00000140649
Gene: ENSMUSG00000025958

DomainStartEndE-ValueType
Pfam:pKID 99 141 3.8e-21 PFAM
low complexity region 148 160 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000187811
SMART Domains Protein: ENSMUSP00000140649
Gene: ENSMUSG00000025958

DomainStartEndE-ValueType
Pfam:pKID 99 141 3.8e-21 PFAM
low complexity region 148 160 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000190348
SMART Domains Protein: ENSMUSP00000140112
Gene: ENSMUSG00000025958

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000190348
SMART Domains Protein: ENSMUSP00000140112
Gene: ENSMUSG00000025958

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190979
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 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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730559C18Rik T C 1: 136,214,405 Y652C probably benign Het
Abca12 A T 1: 71,264,795 F2108I probably damaging Het
Aco2 T C 15: 81,899,223 probably null Het
Ccdc186 T C 19: 56,798,731 K602E probably benign Het
Ccdc85a T A 11: 28,576,528 H360L probably damaging Het
Cited2 A G 10: 17,724,400 H152R possibly damaging Het
Cluh C A 11: 74,665,953 R940S probably benign Het
Corin T A 5: 72,342,961 Y432F probably benign Het
Dhx15 A T 5: 52,160,312 D568E probably damaging Het
Esam G T 9: 37,534,653 R162S possibly damaging Het
Fat3 T A 9: 15,997,957 K2250* probably null Het
Fbxl17 G A 17: 63,080,546 R133* probably null Het
Gm11639 T A 11: 104,710,621 S253R probably benign Het
Gzmc C T 14: 56,234,016 G23R probably damaging Het
Idh3a A G 9: 54,596,922 N189D probably benign Het
Il31ra A T 13: 112,525,888 D462E probably benign Het
Inpp5j G A 11: 3,502,809 A147V possibly damaging Het
Kalrn G A 16: 34,314,176 A412V probably damaging Het
Lrp1b A G 2: 40,858,582 V2968A probably damaging Het
Morc1 G A 16: 48,442,412 G42R probably damaging Het
Notch4 T C 17: 34,565,568 L85P probably benign Het
Olfr1263 G A 2: 90,015,571 V214M probably benign Het
Olfr498 A T 7: 108,465,347 N8Y probably damaging Het
Parp4 T A 14: 56,602,408 H524Q probably damaging Het
Pole T C 5: 110,294,560 F285L probably damaging Het
Scn9a A G 2: 66,526,747 M1070T probably benign Het
Slc25a32 G A 15: 39,100,030 A132V probably benign Het
Sult2a2 T G 7: 13,738,229 I117S probably damaging Het
Suv39h2 T C 2: 3,459,876 N183S probably damaging Het
Trhr2 G A 8: 122,358,795 T150M probably damaging Het
Usp34 T A 11: 23,446,957 F614I possibly damaging Het
Vmn2r17 A G 5: 109,429,372 probably benign Het
Wfdc2 T A 2: 164,563,363 C61* probably null Het
Zfp384 T C 6: 125,035,713 S377P probably damaging Het
Zfp945 A T 17: 22,852,537 Y150* probably null Het
Other mutations in Creb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01299:Creb1 APN 1 64570125 splice site probably benign
IGL01991:Creb1 APN 1 64559754 missense probably benign
IGL03137:Creb1 APN 1 64576215 missense possibly damaging 0.95
1mM(1):Creb1 UTSW 1 64574171 nonsense probably null
R0028:Creb1 UTSW 1 64570148 missense probably damaging 0.96
R0069:Creb1 UTSW 1 64576208 missense possibly damaging 0.91
R0069:Creb1 UTSW 1 64576208 missense possibly damaging 0.91
R0506:Creb1 UTSW 1 64570267 missense probably damaging 1.00
R1834:Creb1 UTSW 1 64550950 nonsense probably null
R1835:Creb1 UTSW 1 64550950 nonsense probably null
R1836:Creb1 UTSW 1 64550950 nonsense probably null
R7254:Creb1 UTSW 1 64576277 nonsense probably null
R7716:Creb1 UTSW 1 64566261 missense possibly damaging 0.94
Posted On2016-08-02