Incidental Mutation 'R4880:Atf6b'
ID 375254
Institutional Source Beutler Lab
Gene Symbol Atf6b
Ensembl Gene ENSMUSG00000015461
Gene Name activating transcription factor 6 beta
Synonyms ATF6beta, Creb-rp, Crebl1
MMRRC Submission 042489-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.596) question?
Stock # R4880 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 34866120-34874048 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34873529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 660 (H660R)
Ref Sequence ENSEMBL: ENSMUSP00000015605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015605] [ENSMUST00000173984]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000015605
AA Change: H660R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015605
Gene: ENSMUSG00000015461
AA Change: H660R

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 possibly damaging
Transcript: ENSMUST00000173984
AA Change: H663R

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133516
Gene: ENSMUSG00000015461
AA Change: H663R

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
Meta Mutation Damage Score 0.1227 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 98% (89/91)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,276,529 (GRCm39) I744T possibly damaging Het
Adgrb1 T A 15: 74,458,871 (GRCm39) F1324L possibly damaging Het
Adm A G 7: 110,228,326 (GRCm39) H230R probably benign Het
Ank2 A T 3: 126,840,475 (GRCm39) probably null Het
Arih1 A T 9: 59,344,168 (GRCm39) F156L possibly damaging Het
Bcl9l C A 9: 44,420,007 (GRCm39) Q1101K probably benign Het
Ccdc174 G A 6: 91,876,572 (GRCm39) probably benign Het
Ccdc65 A C 15: 98,620,538 (GRCm39) probably null Het
Cela2a T C 4: 141,549,598 (GRCm39) N59S probably benign Het
Cfap157 A T 2: 32,668,261 (GRCm39) V393E probably damaging Het
Chd1 T C 17: 17,594,916 (GRCm39) F17S probably damaging Het
Cpne3 T C 4: 19,540,827 (GRCm39) I183V probably benign Het
Cyp2d11 C A 15: 82,276,306 (GRCm39) V122L probably benign Het
Dcaf8 C A 1: 172,015,056 (GRCm39) probably benign Het
Dchs1 T A 7: 105,404,937 (GRCm39) D2535V probably benign Het
Eif4a2 G T 16: 22,927,650 (GRCm39) probably benign Het
Fzd4 T A 7: 89,057,109 (GRCm39) D385E probably benign Het
Galnt13 C A 2: 54,950,584 (GRCm39) Q422K probably damaging Het
Gnptab C T 10: 88,268,413 (GRCm39) Q507* probably null Het
Hoxa7 A G 6: 52,194,014 (GRCm39) probably benign Het
Htra1 T A 7: 130,563,813 (GRCm39) V228D probably damaging Het
Idi2l A T 13: 8,990,702 (GRCm39) probably null Het
Ifi203 T A 1: 173,756,716 (GRCm39) probably benign Het
Iqca1l T C 5: 24,754,750 (GRCm39) D340G probably benign Het
Irs1 TGGGGTGGACATCGAACTGAAGGAG TG 1: 82,265,453 (GRCm39) 913 probably null Het
Itga2b G T 11: 102,348,548 (GRCm39) probably benign Het
Itgb1 G T 8: 129,442,631 (GRCm39) R272L probably damaging Het
Kif9 A G 9: 110,330,703 (GRCm39) E343G probably damaging Het
Klhl5 T C 5: 65,316,244 (GRCm39) V97A probably damaging Het
Lama5 C A 2: 179,818,861 (GRCm39) probably benign Het
Lamb2 A G 9: 108,361,226 (GRCm39) probably null Het
Lrp1b T A 2: 41,660,931 (GRCm39) Y59F probably benign Het
Mmrn1 A G 6: 60,953,423 (GRCm39) E568G probably benign Het
Mreg A G 1: 72,201,495 (GRCm39) Y166H probably damaging Het
Myh7 C A 14: 55,216,045 (GRCm39) V1323F probably benign Het
Nr1i3 T A 1: 171,043,951 (GRCm39) I91K probably damaging Het
Nsfl1c T A 2: 151,348,230 (GRCm39) D206E probably damaging Het
Or11g24 T C 14: 50,662,758 (GRCm39) Y261H possibly damaging Het
Or13c3 A T 4: 52,856,411 (GRCm39) M34K probably damaging Het
Or2ak5 G A 11: 58,611,107 (GRCm39) L256F probably benign Het
Or4k44 A T 2: 111,367,698 (GRCm39) L312* probably null Het
Or5k17 A C 16: 58,746,463 (GRCm39) L157W probably damaging Het
Or8b54 T A 9: 38,686,843 (GRCm39) C97* probably null Het
Pcdhb7 C T 18: 37,475,284 (GRCm39) T140I probably benign Het
Pcdhgb5 T G 18: 37,865,641 (GRCm39) S479A probably benign Het
Pcsk5 T A 19: 17,425,054 (GRCm39) Y1583F probably damaging Het
Pias1 T C 9: 62,820,080 (GRCm39) R296G probably benign Het
Plscr1l1 A G 9: 92,236,665 (GRCm39) E108G probably damaging Het
Polr1e T A 4: 45,022,280 (GRCm39) C100S probably damaging Het
Rpap1 C A 2: 119,614,346 (GRCm39) R17L probably damaging Het
Rtn1 C T 12: 72,264,232 (GRCm39) V192I possibly damaging Het
Ryr2 G A 13: 11,767,104 (GRCm39) P1262L probably damaging Het
Slc4a7 G T 14: 14,757,342 (GRCm38) D396Y probably damaging Het
Slc5a8 T C 10: 88,727,886 (GRCm39) Y118H probably damaging Het
Slc7a6os T A 8: 106,937,247 (GRCm39) Q71L probably benign Het
Sphkap A G 1: 83,266,538 (GRCm39) V127A probably damaging Het
Srpk1 A G 17: 28,810,199 (GRCm39) S580P probably damaging Het
Syne2 A G 12: 76,026,593 (GRCm39) I3474V probably damaging Het
Tchh A G 3: 93,351,130 (GRCm39) D190G possibly damaging Het
Tenm4 T A 7: 96,555,025 (GRCm39) probably null Het
Tex14 T A 11: 87,377,121 (GRCm39) I155N possibly damaging Het
Tm7sf3 A T 6: 146,511,358 (GRCm39) V377E possibly damaging Het
Tnfsf9 T A 17: 57,412,433 (GRCm39) M1K probably null Het
Tns2 C T 15: 102,020,474 (GRCm39) T780I probably damaging Het
Trdn T A 10: 33,347,575 (GRCm39) D639E probably benign Het
Trmt10a A G 3: 137,857,972 (GRCm39) E173G possibly damaging Het
Ttn G A 2: 76,649,119 (GRCm39) P10984S possibly damaging Het
Tubb6 C T 18: 67,534,386 (GRCm39) T95M possibly damaging Het
Uroc1 G T 6: 90,334,519 (GRCm39) R577L probably damaging Het
Vmn2r86 T A 10: 130,289,484 (GRCm39) D137V probably benign Het
Xkr7 T C 2: 152,896,873 (GRCm39) Y576H probably damaging Het
Zfp410 A G 12: 84,384,449 (GRCm39) N355D probably damaging Het
Zfp59 C A 7: 27,543,742 (GRCm39) D22E probably damaging Het
Zfp64 C T 2: 168,736,297 (GRCm39) R460H probably damaging Het
Zfp655 T C 5: 145,181,168 (GRCm39) V342A probably damaging Het
Zfp990 G A 4: 145,264,490 (GRCm39) G496E probably benign 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
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'- AAGCTGCTCTGATAGGTGGC -3'
(R):5'- CCCGGTTCTAAGTCACTGTGAG -3'

Sequencing Primer
(F):5'- ATAGGTGGCGGCTAGGC -3'
(R):5'- CTAAGTCACTGTGAGGTGAGGATGTC -3'
Posted On 2016-03-17