Incidental Mutation 'IGL02023:Atf6b'
ID184046
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atf6b
Ensembl Gene ENSMUSG00000015461
Gene Nameactivating transcription factor 6 beta
SynonymsCreb-rp, ATF6beta, Crebl1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.680) question?
Stock #IGL02023
Quality Score
Status
Chromosome17
Chromosomal Location34647146-34655074 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 34651867 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 401 (V401A)
Ref Sequence ENSEMBL: ENSMUSP00000015605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015605] [ENSMUST00000173984] [ENSMUST00000174519] [ENSMUST00000174614]
Predicted Effect possibly damaging
Transcript: ENSMUST00000015605
AA Change: V401A

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000015605
Gene: ENSMUSG00000015461
AA Change: V401A

DomainStartEndE-ValueType
low complexity region 86 110 N/A INTRINSIC
internal_repeat_1 113 156 2.55e-13 PROSPERO
low complexity region 162 180 N/A INTRINSIC
internal_repeat_1 186 230 2.55e-13 PROSPERO
low complexity region 238 255 N/A INTRINSIC
low complexity region 289 301 N/A INTRINSIC
BRLZ 320 384 7.08e-15 SMART
low complexity region 415 428 N/A INTRINSIC
low complexity region 484 497 N/A INTRINSIC
low complexity region 544 557 N/A INTRINSIC
low complexity region 667 693 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173984
AA Change: V404A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000133516
Gene: ENSMUSG00000015461
AA Change: V404A

DomainStartEndE-ValueType
low complexity region 89 113 N/A INTRINSIC
internal_repeat_1 116 159 2.54e-13 PROSPERO
low complexity region 165 183 N/A INTRINSIC
internal_repeat_1 189 233 2.54e-13 PROSPERO
low complexity region 241 258 N/A INTRINSIC
low complexity region 292 304 N/A INTRINSIC
BRLZ 323 387 2.9e-17 SMART
low complexity region 418 431 N/A INTRINSIC
low complexity region 487 500 N/A INTRINSIC
low complexity region 547 560 N/A INTRINSIC
low complexity region 670 696 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174156
Predicted Effect probably benign
Transcript: ENSMUST00000174519
SMART Domains Protein: ENSMUSP00000133558
Gene: ENSMUSG00000015461

DomainStartEndE-ValueType
low complexity region 23 47 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174614
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded protein binds to the ER stress response element, interacting with nuclear transcription factor Y to activate UPR target genes. The protein is normally found in the membrane of the endoplasmic reticulum; however, under ER stress, the N-terminal cytoplasmic domain is cleaved from the rest of the protein and translocates to the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased cellular sensitivity to thapsigargin and tunicamycin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 110,063,116 K833E probably benign Het
Adam29 T C 8: 55,872,484 I312V probably benign Het
Adcy8 T A 15: 64,822,220 I403F probably damaging Het
Ahcyl1 A T 3: 107,667,694 N444K probably damaging Het
Ang4 T C 14: 51,764,054 probably benign Het
Atp7a A T X: 106,094,982 I604F probably damaging Het
Cd151 T C 7: 141,470,457 Y202H probably damaging Het
Cd99l2 A T X: 71,449,946 N64K possibly damaging Het
Cog7 C T 7: 121,943,777 probably null Het
Ddx58 A G 4: 40,216,487 Y504H possibly damaging Het
Decr2 A T 17: 26,087,380 M94K probably benign Het
Dock11 A T X: 35,968,769 H188L probably benign Het
Dscam T C 16: 96,801,197 S682G probably benign Het
Fam126b G A 1: 58,530,115 A435V possibly damaging Het
Gja3 G T 14: 57,035,679 P412Q probably damaging Het
Glrb T C 3: 80,850,955 N333D probably benign Het
Gm11639 A T 11: 104,721,432 probably benign Het
Gpr65 T A 12: 98,275,868 V260D probably benign Het
Hormad1 A G 3: 95,578,293 E264G possibly damaging Het
Hsph1 T C 5: 149,633,859 R46G probably damaging Het
Iars A G 13: 49,688,249 Y71C probably damaging Het
Lsg1 T C 16: 30,585,676 H35R probably damaging Het
Mfge8 C T 7: 79,145,237 probably benign Het
Mgat4c T A 10: 102,378,184 Y9* probably null Het
Mpdz A T 4: 81,329,529 I1074N probably damaging Het
Muc19 T C 15: 91,888,259 noncoding transcript Het
Nbea A T 3: 55,681,016 M2434K probably damaging Het
Ncoa2 A G 1: 13,174,854 L540P probably damaging Het
Nhsl2 A G X: 102,078,252 R554G probably damaging Het
Npdc1 T A 2: 25,408,020 probably benign Het
Olfr171 A T 16: 19,624,408 S231T probably benign Het
Osbpl10 T A 9: 115,226,722 V654D probably damaging Het
Plxna1 C A 6: 89,357,332 G105V possibly damaging Het
Pnmal2 T C 7: 16,945,691 V200A probably damaging Het
Ppard A G 17: 28,298,897 H313R probably benign Het
Rasgrp4 T C 7: 29,138,910 L103P probably damaging Het
Ripk4 A T 16: 97,755,231 L104Q probably damaging Het
Setd2 T C 9: 110,594,636 V2253A probably benign Het
Setdb2 A G 14: 59,431,158 S43P probably damaging Het
Stab2 C A 10: 86,871,831 G1742V possibly damaging Het
Timm23 A G 14: 32,193,847 probably benign Het
Ttn T C 2: 76,785,655 N14902S possibly damaging Het
Ush2a A G 1: 188,733,514 T2760A probably benign Het
Vmn2r25 T C 6: 123,839,429 N398D probably damaging Het
Other mutations in Atf6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01592:Atf6b APN 17 34649137 missense probably damaging 0.99
IGL02010:Atf6b APN 17 34654652 missense probably benign 0.00
IGL02141:Atf6b APN 17 34653277 missense probably benign 0.01
IGL02511:Atf6b APN 17 34654641 missense probably benign 0.01
IGL03347:Atf6b APN 17 34653240 missense probably damaging 1.00
R0112:Atf6b UTSW 17 34651626 missense probably damaging 0.97
R0285:Atf6b UTSW 17 34650396 unclassified probably benign
R0544:Atf6b UTSW 17 34648299 critical splice donor site probably null
R1618:Atf6b UTSW 17 34647728 nonsense probably null
R1689:Atf6b UTSW 17 34650302 missense probably damaging 0.98
R1823:Atf6b UTSW 17 34648644 missense possibly damaging 0.48
R1996:Atf6b UTSW 17 34652987 critical splice acceptor site probably null
R2057:Atf6b UTSW 17 34648575 critical splice acceptor site probably null
R2058:Atf6b UTSW 17 34648575 critical splice acceptor site probably null
R2059:Atf6b UTSW 17 34648575 critical splice acceptor site probably null
R4290:Atf6b UTSW 17 34652674 missense probably benign 0.00
R4291:Atf6b UTSW 17 34652674 missense probably benign 0.00
R4293:Atf6b UTSW 17 34652674 missense probably benign 0.00
R4880:Atf6b UTSW 17 34654555 missense probably damaging 1.00
R4893:Atf6b UTSW 17 34648612 missense probably damaging 1.00
R5406:Atf6b UTSW 17 34653797 nonsense probably null
R5549:Atf6b UTSW 17 34651683 missense probably damaging 1.00
R5702:Atf6b UTSW 17 34651004 missense possibly damaging 0.93
R6386:Atf6b UTSW 17 34651851 missense probably damaging 0.97
R6833:Atf6b UTSW 17 34649157 missense probably damaging 1.00
R6834:Atf6b UTSW 17 34649157 missense probably damaging 1.00
R7094:Atf6b UTSW 17 34653816 critical splice donor site probably null
R7205:Atf6b UTSW 17 34653729 missense probably damaging 1.00
R7261:Atf6b UTSW 17 34650818 missense probably damaging 0.96
R7969:Atf6b UTSW 17 34648575 critical splice acceptor site probably null
R8103:Atf6b UTSW 17 34653975 missense probably damaging 1.00
R8179:Atf6b UTSW 17 34653994 missense probably damaging 0.99
R8355:Atf6b UTSW 17 34648223 missense probably benign 0.01
Posted On2014-05-07