Incidental Mutation 'R7261:Atf6b'
ID 564662
Institutional Source Beutler Lab
Gene Symbol Atf6b
Ensembl Gene ENSMUSG00000015461
Gene Name activating transcription factor 6 beta
Synonyms ATF6beta, Creb-rp, Crebl1
MMRRC Submission 045387-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.596) question?
Stock # R7261 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 34866120-34874048 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 34869792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 271 (V271F)
Ref Sequence ENSEMBL: ENSMUSP00000015605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015605] [ENSMUST00000036720] [ENSMUST00000173984] [ENSMUST00000174519] [ENSMUST00000174614]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000015605
AA Change: V271F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000015605
Gene: ENSMUSG00000015461
AA Change: V271F

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
SMART Domains Protein: ENSMUSP00000133516
Gene: ENSMUSG00000015461
AA Change: V274F

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 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
Meta Mutation Damage Score 0.1239 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 99% (84/85)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,259,526 (GRCm39) F1954L probably damaging Het
Acmsd T G 1: 127,687,561 (GRCm39) I281R probably damaging Het
Adamts2 A T 11: 50,677,424 (GRCm39) M742L possibly damaging Het
Adgrf4 G A 17: 42,978,326 (GRCm39) T339I probably benign Het
Aff1 T C 5: 103,976,245 (GRCm39) S448P probably damaging Het
Agbl2 A T 2: 90,619,288 (GRCm39) S38C possibly damaging Het
Akap7 C T 10: 25,147,416 (GRCm39) D105N possibly damaging Het
Arhgap21 A G 2: 20,885,177 (GRCm39) F677L probably benign Het
B3gnt5 A G 16: 19,588,123 (GRCm39) Y114C probably damaging Het
Casp7 T A 19: 56,424,765 (GRCm39) D161E probably benign Het
Catsper4 TTCTC TTC 4: 133,954,423 (GRCm39) probably null Het
Ccdc162 T C 10: 41,437,136 (GRCm39) T1758A probably benign Het
Cfap74 C A 4: 155,549,831 (GRCm39) P155T unknown Het
Champ1 A G 8: 13,928,517 (GRCm39) D225G possibly damaging Het
Chrng A T 1: 87,134,962 (GRCm39) probably null Het
Cnksr1 T C 4: 133,963,084 (GRCm39) probably null Het
Col15a1 G A 4: 47,269,088 (GRCm39) G582D probably benign Het
Cwc25 A G 11: 97,648,585 (GRCm39) V81A possibly damaging Het
Ddhd1 A G 14: 45,894,688 (GRCm39) Y261H probably damaging Het
Defa29 A G 8: 21,816,818 (GRCm39) probably null Het
Diaph3 A C 14: 87,202,893 (GRCm39) C666G probably benign Het
Dlx2 A G 2: 71,375,019 (GRCm39) Y282H probably damaging Het
Dsc3 A T 18: 20,113,814 (GRCm39) Y369* probably null Het
Dtwd1 A G 2: 126,000,424 (GRCm39) N120S probably benign Het
Dysf G A 6: 84,169,992 (GRCm39) S1761N probably damaging Het
Enthd1 A T 15: 80,444,416 (GRCm39) N46K probably damaging Het
Epha7 T A 4: 28,813,418 (GRCm39) I12N probably benign Het
Fam171a2 T A 11: 102,328,900 (GRCm39) N620Y probably damaging Het
Garin4 T C 1: 190,896,308 (GRCm39) S112G unknown Het
Gfpt2 A T 11: 49,714,078 (GRCm39) E278D possibly damaging Het
Gm3285 A G 10: 77,698,244 (GRCm39) Q131R unknown Het
Gpcpd1 A C 2: 132,410,619 (GRCm39) C23G probably damaging Het
Gtpbp4 A T 13: 9,037,954 (GRCm39) H228Q probably benign Het
Hdac7 A G 15: 97,704,415 (GRCm39) V500A probably benign Het
Hykk T G 9: 54,828,010 (GRCm39) M83R possibly damaging Het
Idi1 A G 13: 8,936,931 (GRCm39) I101V probably benign Het
Irs2 A T 8: 11,057,018 (GRCm39) H471Q possibly damaging Het
Itsn1 T C 16: 91,702,194 (GRCm39) V12A probably benign Het
Jak2 A G 19: 29,288,385 (GRCm39) I1079V possibly damaging Het
Kcnt2 G A 1: 140,282,255 (GRCm39) R80H possibly damaging Het
Lamb2 T C 9: 108,358,496 (GRCm39) Y178H probably damaging Het
Lgr5 A T 10: 115,423,370 (GRCm39) L10Q possibly damaging Het
Lnx1 G T 5: 74,838,175 (GRCm39) S29* probably null Het
Lpcat3 T A 6: 124,675,050 (GRCm39) F57I probably benign Het
Manf T C 9: 106,769,088 (GRCm39) T4A probably benign Het
Map2k3 G A 11: 60,836,393 (GRCm39) probably null Het
Myh14 G A 7: 44,273,761 (GRCm39) Q1329* probably null Het
Myocd T C 11: 65,078,422 (GRCm39) S458G probably damaging Het
Ncor2 T C 5: 125,187,143 (GRCm39) probably null Het
Ndufs8 A T 19: 3,961,606 (GRCm39) N23K probably benign Het
Nkx6-1 T C 5: 101,812,006 (GRCm39) K32R unknown Het
Nlrp3 T G 11: 59,439,272 (GRCm39) V283G possibly damaging Het
Nme3 A G 17: 25,116,037 (GRCm39) probably null Het
Or1o3 A G 17: 37,574,076 (GRCm39) F160L probably benign Het
Or8g23 C T 9: 38,971,504 (GRCm39) V153M possibly damaging Het
Parvg T C 15: 84,215,297 (GRCm39) probably null Het
Peg10 T A 6: 4,756,591 (GRCm39) M389K unknown Het
Phf23 G T 11: 69,890,091 (GRCm39) C340F possibly damaging Het
Piwil2 A G 14: 70,611,860 (GRCm39) Y929H probably damaging Het
Prss39 A G 1: 34,539,369 (GRCm39) D203G probably damaging Het
Prss54 G T 8: 96,286,367 (GRCm39) D235E probably benign Het
Prtg T A 9: 72,815,117 (GRCm39) M1015K possibly damaging Het
Rbbp8 T C 18: 11,838,799 (GRCm39) I160T probably damaging Het
Rxylt1 A T 10: 121,924,822 (GRCm39) D293E probably benign Het
Scn10a C A 9: 119,438,790 (GRCm39) C1692F probably damaging Het
Scn11a C T 9: 119,648,899 (GRCm39) D55N probably damaging Het
Secisbp2 G T 13: 51,836,498 (GRCm39) V768F probably damaging Het
Skic3 A G 13: 76,261,698 (GRCm39) T138A probably benign Het
Spag16 T C 1: 70,338,780 (GRCm39) I426T possibly damaging Het
Sspo G A 6: 48,427,011 (GRCm39) V250M possibly damaging Het
Strbp A T 2: 37,531,149 (GRCm39) probably null Het
Sv2c C T 13: 96,224,809 (GRCm39) V167M probably damaging Het
Tdpoz1 G A 3: 93,577,794 (GRCm39) S330L not run Het
Tigd2 T A 6: 59,188,052 (GRCm39) D306E probably benign Het
Trrap C T 5: 144,782,287 (GRCm39) P3278S possibly damaging Het
Vdac1 A T 11: 52,265,761 (GRCm39) K28N probably damaging Het
Vmn1r84 A T 7: 12,096,069 (GRCm39) M208K probably damaging Het
Vmn2r77 A T 7: 86,460,518 (GRCm39) K615* probably null Het
Vps11 A G 9: 44,265,800 (GRCm39) L493P probably damaging Het
Zbtb21 T C 16: 97,754,179 (GRCm39) I35V possibly damaging Het
Zbtb26 A T 2: 37,326,667 (GRCm39) M123K possibly damaging Het
Zfp236 A T 18: 82,627,470 (GRCm39) D1576E possibly 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
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
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
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'- CTGATAGTTCCTCAGGTAATGGG -3'
(R):5'- CTCGGATAGCACCTTGGATG -3'

Sequencing Primer
(F):5'- CTCAGGTAATGGGGTCTCCTGAC -3'
(R):5'- TAGCACCTTGGATGAGGACCAC -3'
Posted On 2019-06-26