Incidental Mutation 'IGL03093:Creb3l3'
ID418470
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Creb3l3
Ensembl Gene ENSMUSG00000035041
Gene NamecAMP responsive element binding protein 3-like 3
SynonymsD10Bur1e, CREB-H
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03093
Quality Score
Status
Chromosome10
Chromosomal Location81084324-81098874 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 81091213 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 128 (S128P)
Ref Sequence ENSEMBL: ENSMUSP00000112836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117422]
Predicted Effect probably benign
Transcript: ENSMUST00000117422
AA Change: S128P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000112836
Gene: ENSMUSG00000035041
AA Change: S128P

DomainStartEndE-ValueType
low complexity region 179 199 N/A INTRINSIC
BRLZ 237 301 4.36e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125907
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127374
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143969
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 member of the basic-leucine zipper family and the AMP-dependent transcription factor family. The encoded protein is localized to the endoplasmic reticulum and acts as a transcription factor activated by cyclic AMP stimulation. The encoded protein binds the cyclic AMP response element (CRE) and the box-B element and has been linked to acute inflammatory response, hepatocellular carcinoma, triglyceride metabolism, and hepcidin expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and healthy but exhibit reduced expression of acute phase response proteins following treatment with tunicamycin that induces ER stress. Mice homozygous for a different knock-out allele exhibit resistanceto sulpyrine-induced shock. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 A G 19: 53,231,207 D121G probably damaging Het
Cacna1s A G 1: 136,116,064 D1380G probably benign Het
Clca3a1 T C 3: 144,747,501 Y487C probably damaging Het
Coro2a A G 4: 46,544,158 S278P possibly damaging Het
Dab2 A G 15: 6,436,411 R697G probably damaging Het
Erap1 T C 13: 74,675,280 F811S probably benign Het
Fam170b A G 14: 32,835,525 S106G probably damaging Het
Galk2 T C 2: 125,929,643 L196P probably damaging Het
Gan T C 8: 117,183,575 M81T probably benign Het
Gemin2 A G 12: 59,021,725 T197A probably benign Het
Hemgn A T 4: 46,396,504 M244K probably benign Het
Htr6 A G 4: 139,061,769 F325S probably damaging Het
Igkv9-120 A G 6: 68,050,414 D104G probably damaging Het
Itpr2 A C 6: 146,379,510 I216S probably damaging Het
Lingo1 T C 9: 56,619,464 I614V possibly damaging Het
Mep1b C T 18: 21,093,653 T524M probably benign Het
Mtif2 A G 11: 29,530,702 probably benign Het
Mylk G A 16: 34,912,192 R614H possibly damaging Het
Olfr601 T C 7: 103,358,239 probably benign Het
Olfr706 T C 7: 106,886,203 T205A probably benign Het
Pabpc4 G A 4: 123,286,709 D75N probably damaging Het
Paics T A 5: 76,961,508 probably null Het
Prl T A 13: 27,064,887 I172N probably benign Het
Ripk2 A G 4: 16,152,056 S168P probably damaging Het
Siglecf T C 7: 43,352,441 V225A probably damaging Het
Slc36a1 A G 11: 55,219,604 I86V probably benign Het
Slc6a13 A G 6: 121,332,448 Y306C probably damaging Het
Soat2 T A 15: 102,157,643 L250Q probably damaging Het
Tex38 A G 4: 115,780,565 S14P probably damaging Het
Tm2d1 A T 4: 98,380,684 C59S possibly damaging Het
Tmco1 A G 1: 167,316,279 D82G probably damaging Het
Tmem245 G A 4: 56,886,019 R866W probably damaging Het
Tnip1 G T 11: 54,940,826 Y7* probably null Het
Trp73 A G 4: 154,104,873 M48T probably benign Het
Tslp T C 18: 32,815,559 probably benign Het
Usp47 T C 7: 112,089,620 F745L probably damaging Het
Vmn2r53 T A 7: 12,600,864 T290S probably benign Het
Wdr1 T C 5: 38,561,129 D30G probably benign Het
Zkscan2 T C 7: 123,494,850 Y247C probably benign Het
Other mutations in Creb3l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01387:Creb3l3 APN 10 81091276 missense probably benign
IGL02651:Creb3l3 APN 10 81084834 missense probably benign 0.03
PIT4382001:Creb3l3 UTSW 10 81084912 missense probably benign 0.01
R0501:Creb3l3 UTSW 10 81086582 missense probably benign 0.29
R2421:Creb3l3 UTSW 10 81091818 missense probably benign 0.01
R2567:Creb3l3 UTSW 10 81086049 missense probably benign 0.00
R4038:Creb3l3 UTSW 10 81089338 missense probably benign 0.15
R4748:Creb3l3 UTSW 10 81086047 missense probably benign 0.00
R5596:Creb3l3 UTSW 10 81085047 missense probably benign 0.01
R5814:Creb3l3 UTSW 10 81085662 missense probably benign 0.01
R5889:Creb3l3 UTSW 10 81092533 utr 5 prime probably benign
R6135:Creb3l3 UTSW 10 81085718 missense probably benign 0.20
R6299:Creb3l3 UTSW 10 81088613 missense probably damaging 1.00
R6721:Creb3l3 UTSW 10 81091143 missense probably damaging 0.96
R7472:Creb3l3 UTSW 10 81089467 intron probably null
Posted On2016-08-02