Incidental Mutation 'IGL02141:Atf6b'
ID 281570
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atf6b
Ensembl Gene ENSMUSG00000015461
Gene Name activating transcription factor 6 beta
Synonyms ATF6beta, Creb-rp, Crebl1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.596) question?
Stock # IGL02141
Quality Score
Status
Chromosome 17
Chromosomal Location 34866120-34874048 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 34872251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 539 (H539Q)
Ref Sequence ENSEMBL: ENSMUSP00000133516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015605] [ENSMUST00000173984] [ENSMUST00000174519] [ENSMUST00000174614]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000015605
AA Change: H536Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000015605
Gene: ENSMUSG00000015461
AA Change: H536Q

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: H539Q

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000133516
Gene: ENSMUSG00000015461
AA Change: H539Q

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik C T 5: 146,120,275 (GRCm39) A188T probably benign Het
2310022B05Rik A T 8: 125,364,645 (GRCm39) probably benign Het
Bmal2 T A 6: 146,729,593 (GRCm39) probably benign Het
Bpifb5 G T 2: 154,071,477 (GRCm39) probably null Het
Cep89 T A 7: 35,120,349 (GRCm39) M377K probably damaging Het
Clpx G T 9: 65,219,400 (GRCm39) probably null Het
Cops5 T C 1: 10,105,342 (GRCm39) K47E probably damaging Het
Cryba2 T C 1: 74,931,943 (GRCm39) N35S probably benign Het
Ddx27 A G 2: 166,862,443 (GRCm39) K162E possibly damaging Het
Dhx36 A G 3: 62,401,310 (GRCm39) S319P probably benign Het
Dram2 A G 3: 106,479,012 (GRCm39) probably benign Het
Eci2 T A 13: 35,162,656 (GRCm39) T300S probably benign Het
Egf C A 3: 129,533,631 (GRCm39) G70* probably null Het
Eif5b T C 1: 38,071,403 (GRCm39) V444A probably benign Het
Elf3 T C 1: 135,185,445 (GRCm39) D23G possibly damaging Het
Epb41l4b A T 4: 57,103,422 (GRCm39) probably null Het
Fam167a T A 14: 63,689,708 (GRCm39) S2T probably benign Het
Flrt3 A G 2: 140,502,608 (GRCm39) V340A probably damaging Het
Gimap3 T C 6: 48,742,312 (GRCm39) E206G probably benign Het
Gp6 T C 7: 4,397,103 (GRCm39) probably benign Het
Gpr158 A T 2: 21,788,101 (GRCm39) M581L probably damaging Het
Hapln3 A G 7: 78,767,893 (GRCm39) V167A probably damaging Het
Hnrnpll G A 17: 80,358,142 (GRCm39) T203I probably benign Het
Ighv3-6 A G 12: 114,251,982 (GRCm39) I47T probably damaging Het
Iqgap1 G A 7: 80,387,869 (GRCm39) T926M probably damaging Het
Lonp1 A T 17: 56,922,086 (GRCm39) S765T probably benign Het
Lpp C T 16: 24,580,365 (GRCm39) S27F probably damaging Het
Lrit2 T C 14: 36,790,031 (GRCm39) probably benign Het
Luc7l C A 17: 26,472,054 (GRCm39) T17K probably damaging Het
Mmut A G 17: 41,249,708 (GRCm39) T228A possibly damaging Het
Mroh1 G T 15: 76,330,799 (GRCm39) S1161I possibly damaging Het
Muc5b T G 7: 141,407,104 (GRCm39) C1091G unknown Het
Nppb A T 4: 148,070,463 (GRCm39) I11F probably benign Het
Nsf A T 11: 103,719,351 (GRCm39) D650E probably benign Het
Ogdh A G 11: 6,305,015 (GRCm39) K907E probably damaging Het
Or1b1 G A 2: 36,995,437 (GRCm39) S75F probably benign Het
Or1j15 A G 2: 36,458,820 (GRCm39) D70G probably damaging Het
Or7a35 A G 10: 78,853,555 (GRCm39) Y133C probably damaging Het
Pcnx1 A T 12: 81,907,156 (GRCm39) Q4L possibly damaging Het
Pgc T A 17: 48,037,856 (GRCm39) L9H probably damaging Het
Pikfyve T A 1: 65,285,556 (GRCm39) S887T probably benign Het
Plec T C 15: 76,059,815 (GRCm39) D3239G probably damaging Het
Pole4 T C 6: 82,625,015 (GRCm39) T116A probably benign Het
Potegl T C 2: 23,120,212 (GRCm39) F203L probably damaging Het
Prpf8 A G 11: 75,381,498 (GRCm39) N300D possibly damaging Het
Rara T A 11: 98,858,907 (GRCm39) Y119N probably damaging Het
Rbck1 G T 2: 152,160,294 (GRCm39) R462S possibly damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slfn2 C A 11: 82,960,670 (GRCm39) N216K probably benign Het
Suox A G 10: 128,507,967 (GRCm39) probably benign Het
Tars1 T A 15: 11,391,280 (GRCm39) Y283F probably damaging Het
Trpm4 A T 7: 44,967,603 (GRCm39) probably null Het
Ubtd2 A T 11: 32,449,262 (GRCm39) K36N probably benign Het
Unkl T C 17: 25,448,408 (GRCm39) L327P probably damaging Het
Vmn1r11 T A 6: 57,114,364 (GRCm39) Y9* probably null Het
Vps13b T C 15: 35,572,227 (GRCm39) V948A probably benign Het
Zbtb17 A G 4: 141,192,264 (GRCm39) H403R probably damaging Het
Other mutations in Atf6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01592:Atf6b APN 17 34,868,111 (GRCm39) missense probably damaging 0.99
IGL02010:Atf6b APN 17 34,873,626 (GRCm39) missense probably benign 0.00
IGL02023:Atf6b APN 17 34,870,841 (GRCm39) missense possibly damaging 0.93
IGL02511:Atf6b APN 17 34,873,615 (GRCm39) missense probably benign 0.01
IGL03347:Atf6b APN 17 34,872,214 (GRCm39) missense probably damaging 1.00
R0112:Atf6b UTSW 17 34,870,600 (GRCm39) missense probably damaging 0.97
R0285:Atf6b UTSW 17 34,869,370 (GRCm39) unclassified probably benign
R0544:Atf6b UTSW 17 34,867,273 (GRCm39) critical splice donor site probably null
R1618:Atf6b UTSW 17 34,866,702 (GRCm39) nonsense probably null
R1689:Atf6b UTSW 17 34,869,276 (GRCm39) missense probably damaging 0.98
R1823:Atf6b UTSW 17 34,867,618 (GRCm39) missense possibly damaging 0.48
R1996:Atf6b UTSW 17 34,871,961 (GRCm39) critical splice acceptor site probably null
R2057:Atf6b UTSW 17 34,867,549 (GRCm39) critical splice acceptor site probably null
R2058:Atf6b UTSW 17 34,867,549 (GRCm39) critical splice acceptor site probably null
R2059:Atf6b UTSW 17 34,867,549 (GRCm39) critical splice acceptor site probably null
R4290:Atf6b UTSW 17 34,871,648 (GRCm39) missense probably benign 0.00
R4291:Atf6b UTSW 17 34,871,648 (GRCm39) missense probably benign 0.00
R4293:Atf6b UTSW 17 34,871,648 (GRCm39) missense probably benign 0.00
R4880:Atf6b UTSW 17 34,873,529 (GRCm39) missense probably damaging 1.00
R4893:Atf6b UTSW 17 34,867,586 (GRCm39) missense probably damaging 1.00
R5406:Atf6b UTSW 17 34,872,771 (GRCm39) nonsense probably null
R5549:Atf6b UTSW 17 34,870,657 (GRCm39) missense probably damaging 1.00
R5702:Atf6b UTSW 17 34,869,978 (GRCm39) missense possibly damaging 0.93
R6386:Atf6b UTSW 17 34,870,825 (GRCm39) missense probably damaging 0.97
R6833:Atf6b UTSW 17 34,868,131 (GRCm39) missense probably damaging 1.00
R6834:Atf6b UTSW 17 34,868,131 (GRCm39) missense probably damaging 1.00
R7094:Atf6b UTSW 17 34,872,790 (GRCm39) critical splice donor site probably null
R7205:Atf6b UTSW 17 34,872,703 (GRCm39) missense probably damaging 1.00
R7261:Atf6b UTSW 17 34,869,792 (GRCm39) missense probably damaging 0.96
R7969:Atf6b UTSW 17 34,867,549 (GRCm39) critical splice acceptor site probably null
R8103:Atf6b UTSW 17 34,872,949 (GRCm39) missense probably damaging 1.00
R8179:Atf6b UTSW 17 34,872,968 (GRCm39) missense probably damaging 0.99
R8355:Atf6b UTSW 17 34,867,197 (GRCm39) missense probably benign 0.01
R8455:Atf6b UTSW 17 34,867,197 (GRCm39) missense probably benign 0.01
R8499:Atf6b UTSW 17 34,869,796 (GRCm39) missense probably damaging 1.00
R8685:Atf6b UTSW 17 34,869,320 (GRCm39) missense probably benign 0.18
R9273:Atf6b UTSW 17 34,872,968 (GRCm39) missense probably damaging 0.99
R9633:Atf6b UTSW 17 34,872,507 (GRCm39) missense possibly damaging 0.68
Posted On 2015-04-16