Incidental Mutation 'R1601:Xbp1'
ID 176164
Institutional Source Beutler Lab
Gene Symbol Xbp1
Ensembl Gene ENSMUSG00000020484
Gene Name X-box binding protein 1
Synonyms XBP-1, TREB-5, TREB5, D11Ertd39e
MMRRC Submission 039638-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1601 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 5470659-5475893 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 5471975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 34 (R34W)
Ref Sequence ENSEMBL: ENSMUSP00000135768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063084] [ENSMUST00000149623]
AlphaFold O35426
Predicted Effect probably damaging
Transcript: ENSMUST00000063084
AA Change: R87W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054852
Gene: ENSMUSG00000020484
AA Change: R87W

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
BRLZ 61 125 9.12e-18 SMART
low complexity region 185 198 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145588
Predicted Effect unknown
Transcript: ENSMUST00000149159
AA Change: R18W
SMART Domains Protein: ENSMUSP00000134088
Gene: ENSMUSG00000020484
AA Change: R18W

DomainStartEndE-ValueType
BRLZ 2 57 2.62e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000149623
AA Change: R34W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135768
Gene: ENSMUSG00000020484
AA Change: R34W

DomainStartEndE-ValueType
BRLZ 11 72 3.68e-13 SMART
low complexity region 132 145 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that regulates MHC class II genes by binding to a promoter element referred to as an X box. This gene product is a bZIP protein, which was also identified as a cellular transcription factor that binds to an enhancer in the promoter of the T cell leukemia virus type 1 promoter. It may increase expression of viral proteins by acting as the DNA binding partner of a viral transactivator. It has been found that upon accumulation of unfolded proteins in the endoplasmic reticulum (ER), the mRNA of this gene is processed to an active form by an unconventional splicing mechanism that is mediated by the endonuclease inositol-requiring enzyme 1 (IRE1). The resulting loss of 26 nt from the spliced mRNA causes a frame-shift and an isoform XBP1(S), which is the functionally active transcription factor. The isoform encoded by the unspliced mRNA, XBP1(U), is constitutively expressed, and thought to function as a negative feedback regulator of XBP1(S), which shuts off transcription of target genes during the recovery phase of ER stress. A pseudogene of XBP1 has been identified and localized to chromosome 5. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit markedly impaired liver development resulting in severe anemia, necrosis of cardiac myocytes, morphological abnormalities of the neural tube, and fetal death around embryonic day 14. [provided by MGI curators]
Allele List at MGI

All alleles(16) : Targeted, knock-out(3) Targeted, other(6) Gene trapped(7)
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik G A 3: 68,777,546 (GRCm39) S169N probably benign Het
Adgra2 T C 8: 27,600,046 (GRCm39) probably null Het
Adgrb2 T C 4: 129,886,630 (GRCm39) S257P probably benign Het
Adgre1 A G 17: 57,748,353 (GRCm39) K518E probably benign Het
Anxa7 A T 14: 20,514,683 (GRCm39) Y64* probably null Het
Arhgef7 A G 8: 11,832,638 (GRCm39) probably null Het
Cdc42bpa T A 1: 179,892,566 (GRCm39) Y243* probably null Het
Cdk14 C T 5: 5,185,378 (GRCm39) V176M probably damaging Het
Cnbd2 A G 2: 156,175,551 (GRCm39) E54G probably damaging Het
Crx T C 7: 15,601,736 (GRCm39) probably null Het
Cyp24a1 A G 2: 170,327,611 (GRCm39) F511L possibly damaging Het
Ddx11 A G 17: 66,457,380 (GRCm39) M810V probably damaging Het
Dock10 T C 1: 80,527,519 (GRCm39) T1077A probably benign Het
Dop1a G A 9: 86,418,303 (GRCm39) D2011N probably damaging Het
Ehhadh T A 16: 21,585,158 (GRCm39) H241L probably benign Het
Elp1 T A 4: 56,774,756 (GRCm39) K740* probably null Het
Enah A T 1: 181,747,185 (GRCm39) L523* probably null Het
Fabp3 T C 4: 130,202,641 (GRCm39) L24P probably benign Het
Fat2 A G 11: 55,172,836 (GRCm39) S2626P probably benign Het
Fbxo4 A G 15: 3,998,447 (GRCm39) M337T possibly damaging Het
Gas6 G T 8: 13,515,786 (GRCm39) T662N probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Hrh4 G A 18: 13,148,955 (GRCm39) V106I possibly damaging Het
Ido2 G T 8: 25,066,205 (GRCm39) H20Q possibly damaging Het
Itga10 G T 3: 96,560,974 (GRCm39) R613L possibly damaging Het
Itsn2 T C 12: 4,708,452 (GRCm39) S836P probably benign Het
Kcng3 A T 17: 83,895,768 (GRCm39) C233S probably damaging Het
Kdm3b A G 18: 34,941,784 (GRCm39) Q625R probably damaging Het
Kidins220 A G 12: 25,055,087 (GRCm39) S553G probably benign Het
Krt82 A T 15: 101,453,588 (GRCm39) I266N probably damaging Het
Lama5 A T 2: 179,839,538 (GRCm39) L736Q probably damaging Het
Lnx2 A G 5: 146,970,329 (GRCm39) C138R probably damaging Het
Mcm5 T C 8: 75,845,982 (GRCm39) C397R possibly damaging Het
Me1 A C 9: 86,560,065 (GRCm39) Y52D probably damaging Het
Muc4 C A 16: 32,575,875 (GRCm39) probably benign Het
Myo18b G T 5: 113,019,364 (GRCm39) Q638K possibly damaging Het
Ncapd2 A G 6: 125,162,735 (GRCm39) L170P probably damaging Het
Neb A T 2: 52,177,264 (GRCm39) L1359* probably null Het
Nomo1 C A 7: 45,696,379 (GRCm39) S299Y probably damaging Het
Onecut1 A T 9: 74,769,973 (GRCm39) H132L probably benign Het
Or2b2 C A 13: 21,887,396 (GRCm39) T75K probably damaging Het
Or2w3 A T 11: 58,556,903 (GRCm39) R173W probably damaging Het
Or4e2 A C 14: 52,687,899 (GRCm39) T10P probably benign Het
Or7a41 A T 10: 78,871,338 (GRCm39) Y236F possibly damaging Het
Paqr3 A G 5: 97,259,248 (GRCm39) Y19H probably benign Het
Prdx5 T C 19: 6,884,926 (GRCm39) H140R possibly damaging Het
Prox1 T C 1: 189,893,203 (GRCm39) D414G probably damaging Het
Ptprh T G 7: 4,555,637 (GRCm39) E774A probably damaging Het
Rnpepl1 A T 1: 92,844,944 (GRCm39) D412V possibly damaging Het
Sars2 C T 7: 28,448,396 (GRCm39) T259M probably benign Het
Sbf2 T C 7: 109,939,283 (GRCm39) probably null Het
Sbno2 C T 10: 79,896,326 (GRCm39) R898H probably damaging Het
Smox C A 2: 131,362,094 (GRCm39) T172N probably damaging Het
Taf7l2 T C 10: 115,949,521 (GRCm39) S2G probably damaging Het
Tdrd9 C T 12: 111,989,687 (GRCm39) R341* probably null Het
Thrap3 C G 4: 126,073,894 (GRCm39) G284A probably damaging Het
Tmtc4 A G 14: 123,182,238 (GRCm39) V271A probably benign Het
Trank1 A G 9: 111,202,545 (GRCm39) T1637A probably damaging Het
Tspan5 T A 3: 138,602,596 (GRCm39) I166N probably damaging Het
Vps13b T C 15: 35,642,582 (GRCm39) V1398A probably benign Het
Other mutations in Xbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2256:Xbp1 UTSW 11 5,474,841 (GRCm39) missense probably damaging 1.00
R4647:Xbp1 UTSW 11 5,472,006 (GRCm39) missense probably damaging 1.00
R4782:Xbp1 UTSW 11 5,471,167 (GRCm39) missense probably damaging 1.00
R4964:Xbp1 UTSW 11 5,471,125 (GRCm39) missense probably damaging 0.98
R5367:Xbp1 UTSW 11 5,471,910 (GRCm39) missense probably benign
R5718:Xbp1 UTSW 11 5,471,903 (GRCm39) missense probably benign 0.00
R5928:Xbp1 UTSW 11 5,473,514 (GRCm39) intron probably benign
R6038:Xbp1 UTSW 11 5,474,798 (GRCm39) missense probably benign 0.00
R6038:Xbp1 UTSW 11 5,474,798 (GRCm39) missense probably benign 0.00
R6492:Xbp1 UTSW 11 5,471,005 (GRCm39) missense probably benign
R6835:Xbp1 UTSW 11 5,471,809 (GRCm39) start gained probably benign
R6955:Xbp1 UTSW 11 5,472,018 (GRCm39) missense probably null 0.97
R7067:Xbp1 UTSW 11 5,474,275 (GRCm39) missense probably damaging 1.00
R7483:Xbp1 UTSW 11 5,471,098 (GRCm39) missense probably benign 0.02
R7502:Xbp1 UTSW 11 5,474,683 (GRCm39) critical splice acceptor site probably null
R7819:Xbp1 UTSW 11 5,474,886 (GRCm39) missense probably benign 0.01
R8024:Xbp1 UTSW 11 5,471,910 (GRCm39) missense probably benign
R8512:Xbp1 UTSW 11 5,474,266 (GRCm39) missense probably damaging 1.00
R8933:Xbp1 UTSW 11 5,474,741 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACGCAACGGGAATGTATCAGCC -3'
(R):5'- TGAGTCACGTCTGCTTTCACGG -3'

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