Mutagenetix > Incidental Mutation

Incidental Mutation 'R6492:Xbp1'

543477

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

044624-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6492 (G1)

Quality Score

79.0075

Status

Validated

Chromosome

Chromosomal Location

5470659-5475893 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5471005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 4 (V4A)

Ref Sequence

ENSEMBL: ENSMUSP00000054852 (fasta)

Gene Model

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

AlphaFold

O35426

Predicted Effect

probably benign
Transcript: ENSMUST00000063084
AA Change: V4A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000054852
Gene: ENSMUSG00000020484
AA Change: V4A

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.5%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,631,464 (GRCm39)	T587I	probably benign	Het
Abl1	T	A	2: 31,691,667 (GRCm39)	M1062K	probably benign	Het
Agbl4	G	A	4: 111,404,469 (GRCm39)	D272N	probably damaging	Het
Apob	A	T	12: 8,058,261 (GRCm39)	I2215F	probably damaging	Het
Atp10b	A	T	11: 43,109,784 (GRCm39)	Q821H	probably damaging	Het
Atp1a3	T	C	7: 24,678,729 (GRCm39)	Y971C	probably damaging	Het
Atp6ap1l	A	T	13: 91,031,841 (GRCm39)	H280Q	probably damaging	Het
B4galt2	A	T	4: 117,734,164 (GRCm39)	M291K	probably damaging	Het
Cachd1	G	T	4: 100,809,315 (GRCm39)	V267F	possibly damaging	Het
Cadm2	G	T	16: 66,581,715 (GRCm39)	L188M	probably damaging	Het
Ccn6	C	T	10: 39,030,983 (GRCm39)	G180D	probably benign	Het
Ceacam19	T	C	7: 19,616,517 (GRCm39)	N199S	probably benign	Het
Chrna5	A	G	9: 54,905,347 (GRCm39)	D53G	probably benign	Het
Clca4a	T	A	3: 144,663,059 (GRCm39)	T597S	probably benign	Het
Cluap1	T	A	16: 3,746,476 (GRCm39)	M279K	probably benign	Het
Cngb1	T	A	8: 95,991,052 (GRCm39)	M717L	probably benign	Het
Cp	T	C	3: 20,036,186 (GRCm39)	V777A	probably benign	Het
Drosha	A	G	15: 12,861,792 (GRCm39)	D594G	probably benign	Het
Exo5	A	G	4: 120,778,734 (GRCm39)		probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gprc5b	A	G	7: 118,583,800 (GRCm39)	I23T	possibly damaging	Het
Ikbke	T	C	1: 131,186,955 (GRCm39)	Y579C	probably damaging	Het
Ikzf2	T	C	1: 69,578,201 (GRCm39)	Y362C	probably damaging	Het
Itfg1	A	G	8: 86,466,978 (GRCm39)	V365A	probably benign	Het
Josd2	T	C	7: 44,120,578 (GRCm39)	I105T	probably damaging	Het
Mc3r	G	A	2: 172,091,074 (GRCm39)	A99T	possibly damaging	Het
Mettl22	T	A	16: 8,306,755 (GRCm39)		probably null	Het
Mgat5	A	G	1: 127,399,301 (GRCm39)	I619V	probably benign	Het
Nin	T	C	12: 70,101,308 (GRCm39)	I430V	probably benign	Het
Or52n2c	C	A	7: 104,574,852 (GRCm39)	A40S	possibly damaging	Het
Or5au1	A	G	14: 52,272,902 (GRCm39)	F222S	probably benign	Het
Or5j3	T	C	2: 86,128,990 (GRCm39)	F277L	probably benign	Het
Or5w22	C	G	2: 87,363,085 (GRCm39)	A236G	possibly damaging	Het
Or8k3	T	A	2: 86,058,731 (GRCm39)	I195F	possibly damaging	Het
Parvb	T	C	15: 84,188,073 (GRCm39)	L272P	probably damaging	Het
Pde2a	A	G	7: 101,149,649 (GRCm39)	K180E	possibly damaging	Het
Pik3c3	C	T	18: 30,457,615 (GRCm39)	T736M	probably damaging	Het
Plcb4	C	T	2: 135,814,991 (GRCm39)	R760*	probably null	Het
Pramel6	C	T	2: 87,340,766 (GRCm39)	T366I	probably benign	Het
Prr29	C	T	11: 106,266,062 (GRCm39)	R42W	probably damaging	Het
Prss12	A	G	3: 123,241,048 (GRCm39)	I81V	probably benign	Het
Ptpn13	A	G	5: 103,649,478 (GRCm39)	T294A	probably benign	Het
Ptprc	A	T	1: 138,041,300 (GRCm39)		probably null	Het
Sin3b	T	A	8: 73,460,118 (GRCm39)		probably null	Het
Slco5a1	T	C	1: 13,060,151 (GRCm39)	Y190C	probably damaging	Het
Slco6c1	T	G	1: 97,053,538 (GRCm39)	Y121S	probably damaging	Het
Srcap	G	T	7: 127,121,317 (GRCm39)	G217*	probably null	Het
Ss18	A	T	18: 14,784,145 (GRCm39)	M181K	probably damaging	Het
Synm	T	C	7: 67,385,809 (GRCm39)	T176A	probably benign	Het
Taf3	T	C	2: 9,955,971 (GRCm39)	E579G	probably damaging	Het
Taf7	A	G	18: 37,776,159 (GRCm39)	I136T	probably damaging	Het
Tfap2d	G	C	1: 19,174,702 (GRCm39)	G52R	probably benign	Het
Tyrp1	A	G	4: 80,759,018 (GRCm39)	D297G	probably null	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Wwp1	G	A	4: 19,650,299 (GRCm39)	S289L	possibly damaging	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het
Zbtb2	T	C	10: 4,319,711 (GRCm39)	Y105C	probably damaging	Het
Zeb2	T	C	2: 45,000,508 (GRCm39)		probably benign	Het
Zkscan8	A	T	13: 21,709,397 (GRCm39)	I167N	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
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
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'- ATCCTTGGACTCCAGCAACC -3'
(R):5'- TGAATCTAACCCACCGTACG -3'

Sequencing Primer
(F):5'- TAAGGCCCAGTTTGCACG -3'
(R):5'- GAGAGTCCCAATCCCAGTCCTG -3'

Posted On

2019-01-11