Incidental Mutation 'R1618:Atf6b'
ID 174476
Institutional Source Beutler Lab
Gene Symbol Atf6b
Ensembl Gene ENSMUSG00000015461
Gene Name activating transcription factor 6 beta
Synonyms ATF6beta, Creb-rp, Crebl1
MMRRC Submission 039655-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.596) question?
Stock # R1618 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 34866120-34874048 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 34866702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 58 (Q58*)
Ref Sequence ENSEMBL: ENSMUSP00000133786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015605] [ENSMUST00000036720] [ENSMUST00000173984] [ENSMUST00000174519] [ENSMUST00000174614] [ENSMUST00000174796]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000015605
AA Change: Q58*
SMART Domains Protein: ENSMUSP00000015605
Gene: ENSMUSG00000015461
AA Change: Q58*

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: ENSMUST00000036720
SMART Domains Protein: ENSMUSP00000037273
Gene: ENSMUSG00000033739

DomainStartEndE-ValueType
TPR 208 241 2.92e1 SMART
TPR 250 283 4.77e-2 SMART
TPR 284 317 1.89e-5 SMART
Predicted Effect probably null
Transcript: ENSMUST00000173984
AA Change: Q61*
SMART Domains Protein: ENSMUSP00000133516
Gene: ENSMUSG00000015461
AA Change: Q61*

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 noncoding transcript
Transcript: ENSMUST00000174600
Predicted Effect probably null
Transcript: ENSMUST00000174614
AA Change: Q58*
Predicted Effect probably benign
Transcript: ENSMUST00000174796
Meta Mutation Damage Score 0.9717 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.3%
  • 20x: 89.1%
Validation Efficiency 96% (79/82)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449E01Rik T C 14: 105,736,380 (GRCm39) noncoding transcript Het
Abca8b A T 11: 109,840,714 (GRCm39) probably benign Het
Akp3 G A 1: 87,055,593 (GRCm39) G547R unknown Het
Anln A G 9: 22,262,214 (GRCm39) probably null Het
Anpep T G 7: 79,485,165 (GRCm39) Q607P probably benign Het
Arl13b A C 16: 62,633,640 (GRCm39) probably null Het
Asxl3 T C 18: 22,650,044 (GRCm39) S678P probably damaging Het
Camsap3 A G 8: 3,648,740 (GRCm39) T20A probably benign Het
Cfap46 T A 7: 139,232,726 (GRCm39) M782L probably benign Het
Cngb3 T C 4: 19,364,260 (GRCm39) S155P probably benign Het
Coro1a T C 7: 126,300,719 (GRCm39) I162V probably benign Het
Cry1 T A 10: 84,982,318 (GRCm39) I343F probably damaging Het
Csnk1e A T 15: 79,309,050 (GRCm39) M292K probably benign Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Cul9 A T 17: 46,836,818 (GRCm39) M1069K probably benign Het
Cyp2c67 C A 19: 39,631,708 (GRCm39) probably benign Het
Dnah11 T C 12: 117,979,200 (GRCm39) I2633V probably damaging Het
Eif4g3 C A 4: 137,933,369 (GRCm39) D1731E probably damaging Het
Epb41l4b T C 4: 57,032,204 (GRCm39) T592A probably benign Het
Evi5 T C 5: 107,946,984 (GRCm39) probably benign Het
Exo1 T A 1: 175,728,952 (GRCm39) M672K probably benign Het
Fcho1 T C 8: 72,163,047 (GRCm39) S661G probably damaging Het
Fnip2 A G 3: 79,415,475 (GRCm39) Y188H possibly damaging Het
Foxb1 T C 9: 69,667,293 (GRCm39) D79G probably damaging Het
Fyco1 T C 9: 123,658,346 (GRCm39) Y610C probably damaging Het
Gm3095 T A 14: 15,170,441 (GRCm39) Y97N probably damaging Het
Gm3095 C A 14: 15,170,440 (GRCm39) N96K probably damaging Het
Gmfb A T 14: 47,049,237 (GRCm39) L128* probably null Het
Gprc5c T A 11: 114,755,220 (GRCm39) V299D possibly damaging Het
Hsfy2 C T 1: 56,676,388 (GRCm39) V50I probably benign Het
Hspa12b A C 2: 130,982,849 (GRCm39) K236Q probably benign Het
Impg2 A G 16: 56,080,221 (GRCm39) Y566C probably damaging Het
Itpr3 A C 17: 27,335,581 (GRCm39) probably null Het
Kprp G A 3: 92,732,783 (GRCm39) T89I probably damaging Het
Lcmt2 T C 2: 120,969,133 (GRCm39) E650G probably damaging Het
Lrch1 T C 14: 75,051,144 (GRCm39) D331G probably damaging Het
Mroh9 T A 1: 162,852,110 (GRCm39) I860F probably benign Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Myt1l A G 12: 29,877,396 (GRCm39) D349G unknown Het
Ndufs2 T C 1: 171,073,690 (GRCm39) T31A probably benign Het
Ndufs3 A T 2: 90,729,016 (GRCm39) S157T probably benign Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Noct T A 3: 51,155,251 (GRCm39) S6R probably damaging Het
Npas2 T A 1: 39,339,808 (GRCm39) H119Q probably damaging Het
Oprl1 A T 2: 181,360,646 (GRCm39) Y207F probably benign Het
Or2n1e G A 17: 38,586,557 (GRCm39) probably null Het
Or4c11 A G 2: 88,695,871 (GRCm39) probably null Het
Or8k30 T G 2: 86,339,193 (GRCm39) L130R probably damaging Het
Palm3 G T 8: 84,756,291 (GRCm39) S601I possibly damaging Het
Plscr1 T A 9: 92,148,548 (GRCm39) C163S probably damaging Het
Ptprk A T 10: 28,369,166 (GRCm39) M713L probably benign Het
Rdm1 A G 11: 101,519,217 (GRCm39) D72G possibly damaging Het
Reln T C 5: 22,265,366 (GRCm39) D442G probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Sbno1 T C 5: 124,542,279 (GRCm39) Y338C probably damaging Het
Seh1l T G 18: 67,921,806 (GRCm39) V222G probably damaging Het
Septin12 T C 16: 4,814,340 (GRCm39) K43R probably damaging Het
Slc25a18 A C 6: 120,763,303 (GRCm39) probably benign Het
Slc33a1 T C 3: 63,855,650 (GRCm39) T332A possibly damaging Het
Slc35d3 A G 10: 19,724,909 (GRCm39) S316P probably benign Het
Spmip7 A G 11: 11,438,641 (GRCm39) probably benign Het
Srrm2 T A 17: 24,037,906 (GRCm39) probably benign Het
Srsf12 C T 4: 33,230,974 (GRCm39) S156L probably damaging Het
Syce3 A G 15: 89,274,606 (GRCm39) M49T probably benign Het
Tjp3 T C 10: 81,112,094 (GRCm39) probably benign Het
Tnks G T 8: 35,342,430 (GRCm39) N373K probably damaging Het
Togaram1 A G 12: 65,013,847 (GRCm39) N366S possibly damaging Het
Trpm1 G A 7: 63,890,283 (GRCm39) R962H probably damaging Het
Trpm6 A T 19: 18,854,995 (GRCm39) M1885L possibly damaging Het
Tshz3 A G 7: 36,471,221 (GRCm39) D1070G probably damaging Het
Ush2a T C 1: 188,546,421 (GRCm39) M3399T probably benign Het
Utp15 G A 13: 98,393,695 (GRCm39) T196I probably benign Het
Vmn1r168 T C 7: 23,240,725 (GRCm39) I194T probably benign Het
Vmn2r73 C T 7: 85,525,120 (GRCm39) W9* probably null Het
Wdr17 T C 8: 55,092,930 (GRCm39) Y1076C probably damaging Het
Zan T C 5: 137,382,092 (GRCm39) T5152A unknown Het
Zbtb46 A T 2: 181,066,042 (GRCm39) V36E possibly damaging Het
Zfp558 T C 9: 18,380,579 (GRCm39) I9M possibly damaging Het
Zscan2 T A 7: 80,525,534 (GRCm39) Y418* probably null 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
IGL02141:Atf6b APN 17 34,872,251 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- TTCTTCACCGACAACCTGCTGAG -3'
(R):5'- GGGGCTGCTCTCTAAAATCCTGAC -3'

Sequencing Primer
(F):5'- AGGGAAGACCTTGGTCTCC -3'
(R):5'- CTTGAGCCAATTAGACCAATGG -3'
Posted On 2014-04-24