Mutagenetix > Incidental Mutation

Incidental Mutation 'R2256:Xbp1'

243397

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

040256-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2256 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5470659-5475893 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 5474841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 247 (H247Q)

Ref Sequence

ENSEMBL: ENSMUSP00000054852 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020776] [ENSMUST00000063084] [ENSMUST00000149623]

AlphaFold

O35426

Predicted Effect

probably benign
Transcript: ENSMUST00000020776

SMART Domains

Protein: ENSMUSP00000020776
Gene: ENSMUSG00000020482

Domain	Start	End	E-Value	Type
low complexity region	22	37	N/A	INTRINSIC
Pfam:CCDC117	139	277	1.9e-56	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000063084
AA Change: H247Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054852
Gene: ENSMUSG00000020484
AA Change: H247Q

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000149159

SMART Domains

Protein: ENSMUSP00000134088
Gene: ENSMUSG00000020484

Domain	Start	End	E-Value	Type
BRLZ	2	57	2.62e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000149623
AA Change: H194Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000135768
Gene: ENSMUSG00000020484
AA Change: H194Q

Domain	Start	End	E-Value	Type
BRLZ	11	72	3.68e-13	SMART
low complexity region	132	145	N/A	INTRINSIC

Meta Mutation Damage Score

0.1999

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

98% (97/99)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 9,008,431 (GRCm39)	S1200P	probably damaging	Het
Acadsb	A	G	7: 131,045,382 (GRCm39)	Y438C	probably benign	Het
Acp7	A	C	7: 28,313,838 (GRCm39)	W399G	probably damaging	Het
Actr3b	A	G	5: 26,027,403 (GRCm39)	T113A	possibly damaging	Het
Adgrv1	T	C	13: 81,654,259 (GRCm39)	D2204G	probably benign	Het
Ago1	A	G	4: 126,335,704 (GRCm39)	V669A	possibly damaging	Het
Ang5	T	A	14: 44,199,978 (GRCm39)	L14Q	probably null	Het
Aoc1	T	C	6: 48,883,374 (GRCm39)	Y417H	possibly damaging	Het
Arhgap32	T	C	9: 32,158,793 (GRCm39)	I186T	probably damaging	Het
Atf2	A	T	2: 73,675,855 (GRCm39)		probably null	Het
Atg4a	A	G	X: 139,890,984 (GRCm39)	I91V	probably benign	Het
Atp7b	T	G	8: 22,488,282 (GRCm39)	T1102P	probably damaging	Het
Bend5	A	C	4: 111,288,207 (GRCm39)		probably benign	Het
Camkk2	T	C	5: 122,884,398 (GRCm39)	D341G	probably damaging	Het
Cast	T	A	13: 74,888,024 (GRCm39)	I208L	probably damaging	Het
Ccdc141	A	T	2: 76,962,606 (GRCm39)	W113R	probably damaging	Het
Cdk14	T	A	5: 4,938,924 (GRCm39)	M433L	probably benign	Het
Cel	A	G	2: 28,451,204 (GRCm39)	F51S	probably damaging	Het
Cenpc1	A	G	5: 86,164,062 (GRCm39)	L853S	probably damaging	Het
Cep162	C	A	9: 87,088,967 (GRCm39)	D972Y	probably damaging	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Clasrp	A	G	7: 19,320,510 (GRCm39)		probably benign	Het
Cntnap5c	T	A	17: 58,637,310 (GRCm39)	N1062K	probably benign	Het
Col3a1	A	G	1: 45,360,792 (GRCm39)	D74G	unknown	Het
Copb1	T	A	7: 113,853,110 (GRCm39)	D29V	possibly damaging	Het
Cox6a1	C	T	5: 115,486,907 (GRCm39)	E35K	possibly damaging	Het
Cyp2b9	G	A	7: 25,873,030 (GRCm39)		probably null	Het
Ddx46	A	G	13: 55,795,521 (GRCm39)	K177E	possibly damaging	Het
Dmbt1	T	C	7: 130,692,224 (GRCm39)	F823L	probably benign	Het
Drc7	A	T	8: 95,801,637 (GRCm39)	H666L	probably benign	Het
Fam228a	T	C	12: 4,787,775 (GRCm39)		probably benign	Het
Fam83e	A	T	7: 45,378,193 (GRCm39)	K406*	probably null	Het
Fam83e	A	T	7: 45,378,194 (GRCm39)	K406M	possibly damaging	Het
Fam90a1a	T	A	8: 22,453,533 (GRCm39)	L296Q	possibly damaging	Het
Fat1	A	G	8: 45,403,408 (GRCm39)	Y53C	probably damaging	Het
Fhdc1	T	C	3: 84,353,353 (GRCm39)	E624G	probably benign	Het
Fryl	T	A	5: 73,230,187 (GRCm39)	N1657Y	possibly damaging	Het
Fsip2	T	A	2: 82,793,095 (GRCm39)	D417E	probably benign	Het
Garin5b	T	A	7: 4,774,020 (GRCm39)	M31L	probably benign	Het
Greb1l	A	G	18: 10,503,307 (GRCm39)	M453V	possibly damaging	Het
Gtf2b	A	G	3: 142,487,185 (GRCm39)	D207G	probably benign	Het
Has3	C	A	8: 107,600,888 (GRCm39)	L117I	probably damaging	Het
Iqca1l	C	T	5: 24,757,038 (GRCm39)		probably benign	Het
Jmjd1c	T	A	10: 67,061,073 (GRCm39)	I1142N	probably damaging	Het
Lipt2	C	T	7: 99,808,601 (GRCm39)	T38I	probably benign	Het
Magea2	A	T	X: 153,810,855 (GRCm39)	L243Q	probably damaging	Het
Mast4	A	T	13: 102,872,259 (GRCm39)	C2178S	possibly damaging	Het
Mctp2	A	G	7: 71,835,568 (GRCm39)	L543P	probably damaging	Het
Mmut	A	T	17: 41,267,210 (GRCm39)	I595F	probably benign	Het
Mphosph9	C	T	5: 124,421,722 (GRCm39)	V740I	probably benign	Het
Mtrex	A	T	13: 113,013,046 (GRCm39)	M890K	probably damaging	Het
Myo1e	G	A	9: 70,285,655 (GRCm39)		probably null	Het
Nlrc4	A	G	17: 74,752,625 (GRCm39)	I586T	probably damaging	Het
Nom1	T	A	5: 29,642,750 (GRCm39)	V417D	probably damaging	Het
Nphs1	A	T	7: 30,167,417 (GRCm39)	I782F	possibly damaging	Het
Numa1	A	G	7: 101,649,998 (GRCm39)	E1243G	probably damaging	Het
Or4a81	T	C	2: 89,618,814 (GRCm39)	H294R	probably benign	Het
Or4k42	T	C	2: 111,320,323 (GRCm39)	Y60C	probably damaging	Het
Or52e7	A	G	7: 104,685,026 (GRCm39)	Y207C	probably benign	Het
Or5g23	T	A	2: 85,438,807 (GRCm39)	Y149F	possibly damaging	Het
Or5p54	A	T	7: 107,554,244 (GRCm39)	Y132F	probably damaging	Het
Orai2	C	T	5: 136,190,454 (GRCm39)	V52I	probably damaging	Het
Osbpl5	A	G	7: 143,262,831 (GRCm39)	C186R	probably damaging	Het
Osbpl6	A	G	2: 76,414,818 (GRCm39)	E403G	probably damaging	Het
Padi4	G	A	4: 140,487,251 (GRCm39)	T217I	possibly damaging	Het
Parm1	C	T	5: 91,741,980 (GRCm39)	T116I	possibly damaging	Het
Pde4dip	T	A	3: 97,625,500 (GRCm39)	Q1366L	probably damaging	Het
Phgdh	T	C	3: 98,235,607 (GRCm39)	K108E	probably benign	Het
Pold1	T	C	7: 44,183,223 (GRCm39)		probably null	Het
Ppp1r37	G	T	7: 19,295,943 (GRCm39)		probably benign	Het
Sdk2	T	C	11: 113,721,620 (GRCm39)	N1332S	probably benign	Het
Sema6d	A	G	2: 124,506,070 (GRCm39)	D626G	probably damaging	Het
Slc18b1	A	G	10: 23,686,820 (GRCm39)	N212S	probably benign	Het
Slc2a9	T	C	5: 38,610,542 (GRCm39)	T86A	probably damaging	Het
Slco1a6	A	T	6: 142,036,742 (GRCm39)	M555K	probably benign	Het
Sntg2	C	T	12: 30,286,687 (GRCm39)	W302*	probably null	Het
Spata22	T	A	11: 73,231,301 (GRCm39)	M185K	possibly damaging	Het
Stk35	T	A	2: 129,652,427 (GRCm39)	Y309*	probably null	Het
Taar8c	A	G	10: 23,976,969 (GRCm39)	V281A	probably benign	Het
Thoc1	C	A	18: 9,993,466 (GRCm39)	D608E	possibly damaging	Het
Tmem121b	A	T	6: 120,469,030 (GRCm39)	Y562*	probably null	Het
Tmem121b	A	G	6: 120,469,032 (GRCm39)	Y562H	probably damaging	Het
Tmtc4	A	T	14: 123,178,820 (GRCm39)	I449N	probably benign	Het
Tmub1	C	A	5: 24,651,922 (GRCm39)	G14V	possibly damaging	Het
Tmub1	G	A	5: 24,652,175 (GRCm39)		probably benign	Het
Tshz2	A	G	2: 169,728,397 (GRCm39)	T529A	probably damaging	Het
Ugdh	A	T	5: 65,574,458 (GRCm39)		probably benign	Het
Usp25	A	G	16: 76,910,682 (GRCm39)	K913E	probably benign	Het
Vgf	A	G	5: 137,060,401 (GRCm39)		probably benign	Het
Vmn2r19	T	A	6: 123,306,845 (GRCm39)	F451Y	probably benign	Het
Vmn2r59	A	T	7: 41,661,669 (GRCm39)	C715*	probably null	Het
Vps9d1	C	A	8: 123,971,860 (GRCm39)	A582S	probably benign	Het
Zfp1008	A	T	13: 62,755,210 (GRCm39)	I36N	probably benign	Het
Zfp319	A	T	8: 96,055,129 (GRCm39)	M358K	possibly damaging	Het
Zfp438	A	T	18: 5,213,508 (GRCm39)	N483K	probably damaging	Het
Zfp518b	T	C	5: 38,828,979 (GRCm39)	N1009D	possibly damaging	Het
Zfp644	A	T	5: 106,783,711 (GRCm39)	H945Q	probably damaging	Het
Zgrf1	T	A	3: 127,355,646 (GRCm39)	S291T	probably benign	Het

Other mutations in Xbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1601:Xbp1	UTSW	11	5,471,975 (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'- TTCTGGTAGACTGTCACATTCATTC -3'
(R):5'- AGGTTTGAGATGCCCAGCTC -3'

Sequencing Primer
(F):5'- AATAGTGAACTCTTTTGTGTTTTGCC -3'
(R):5'- GATGAAGTCATCTTCCAAAGGCTC -3'

Posted On

2014-10-16