Incidental Mutation 'R8512:Xbp1'
| ID |
655940 |
| 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 |
067846-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8512 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
5470659-5475893 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5474266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 156
(S156P)
|
| 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: S156P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054852
Gene: ENSMUSG00000020484
AA Change: S156P
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000134088
Gene: ENSMUSG00000020484
AA Change: S87P
| Domain | Start | End | E-Value | Type |
|---|
|
BRLZ
|
2 |
57 |
2.62e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149623
AA Change: S103P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135768
Gene: ENSMUSG00000020484
AA Change: S103P
| Domain | Start | End | E-Value | Type |
|---|
|
BRLZ
|
11 |
72 |
3.68e-13 |
SMART |
|
low complexity region
|
132 |
145 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
T |
C |
17: 56,125,760 (GRCm39) |
|
probably null |
Het |
| Akap13 |
T |
C |
7: 75,260,834 (GRCm39) |
S350P |
probably damaging |
Het |
| Celsr2 |
A |
G |
3: 108,321,154 (GRCm39) |
F553L |
probably damaging |
Het |
| Ces3a |
A |
T |
8: 105,784,661 (GRCm39) |
T548S |
probably benign |
Het |
| Chtf8 |
G |
A |
8: 107,612,066 (GRCm39) |
T291I |
probably benign |
Het |
| Ckmt1 |
A |
T |
2: 121,191,689 (GRCm39) |
R286S |
probably damaging |
Het |
| Dnajb2 |
C |
T |
1: 75,218,075 (GRCm39) |
R191W |
|
Het |
| Dtnbp1 |
G |
T |
13: 45,075,867 (GRCm39) |
A292E |
probably benign |
Het |
| Esrrg |
T |
G |
1: 187,775,777 (GRCm39) |
Y101* |
probably null |
Het |
| Etaa1 |
G |
A |
11: 17,897,442 (GRCm39) |
S225L |
probably damaging |
Het |
| Evi5l |
A |
G |
8: 4,243,121 (GRCm39) |
Y335C |
probably benign |
Het |
| Fcho2 |
T |
C |
13: 98,891,730 (GRCm39) |
D344G |
possibly damaging |
Het |
| Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
| Gsdmc2 |
C |
T |
15: 63,706,864 (GRCm39) |
V101I |
probably null |
Het |
| Gsdmc4 |
A |
G |
15: 63,763,808 (GRCm39) |
C430R |
probably damaging |
Het |
| Irak4 |
A |
C |
15: 94,464,659 (GRCm39) |
I410L |
probably benign |
Het |
| Kirrel1 |
A |
G |
3: 86,995,534 (GRCm39) |
V436A |
probably benign |
Het |
| Lrrc30 |
T |
A |
17: 67,938,947 (GRCm39) |
Q211L |
probably damaging |
Het |
| Map4k1 |
C |
T |
7: 28,695,583 (GRCm39) |
H512Y |
possibly damaging |
Het |
| Matn3 |
T |
A |
12: 9,011,183 (GRCm39) |
S365T |
probably benign |
Het |
| Msantd2 |
T |
C |
9: 37,434,231 (GRCm39) |
I358T |
possibly damaging |
Het |
| Msantd5 |
T |
A |
11: 51,125,487 (GRCm39) |
S137T |
probably benign |
Het |
| Msx3 |
G |
T |
7: 139,628,884 (GRCm39) |
A10E |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,549,488 (GRCm39) |
T5602A |
probably benign |
Het |
| Myh2 |
T |
C |
11: 67,081,187 (GRCm39) |
S1268P |
probably benign |
Het |
| Mynn |
C |
T |
3: 30,670,798 (GRCm39) |
P557S |
probably damaging |
Het |
| Naglu |
T |
C |
11: 100,961,168 (GRCm39) |
V73A |
probably benign |
Het |
| Ncor1 |
AGCTGCTGCTGCTGCTGCTGCTGCTG |
AGCTGCTGCTGCTGCTGCTGCTG |
11: 62,324,437 (GRCm39) |
|
probably benign |
Het |
| Or10al3 |
T |
A |
17: 38,012,071 (GRCm39) |
F170Y |
probably damaging |
Het |
| Or6c75 |
T |
A |
10: 129,337,496 (GRCm39) |
S240T |
probably damaging |
Het |
| P2rx3 |
C |
T |
2: 84,854,755 (GRCm39) |
E100K |
probably damaging |
Het |
| Pnisr |
C |
T |
4: 21,870,372 (GRCm39) |
Q375* |
probably null |
Het |
| Psmb9 |
C |
T |
17: 34,402,602 (GRCm39) |
C126Y |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,400,783 (GRCm39) |
F1085L |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,697,534 (GRCm39) |
Y677C |
probably damaging |
Het |
| Rftn2 |
G |
A |
1: 55,253,324 (GRCm39) |
P93L |
probably damaging |
Het |
| Rtl1 |
T |
A |
12: 109,561,051 (GRCm39) |
M263L |
unknown |
Het |
| Sec24c |
T |
C |
14: 20,740,920 (GRCm39) |
V722A |
possibly damaging |
Het |
| Slc2a7 |
T |
C |
4: 150,247,752 (GRCm39) |
L384P |
probably benign |
Het |
| Slc6a11 |
T |
C |
6: 114,215,402 (GRCm39) |
L434P |
probably damaging |
Het |
| Sptb |
T |
C |
12: 76,648,826 (GRCm39) |
E1869G |
possibly damaging |
Het |
| Susd2 |
G |
A |
10: 75,475,485 (GRCm39) |
T473I |
probably benign |
Het |
| Synpo |
C |
T |
18: 60,735,483 (GRCm39) |
R821H |
probably damaging |
Het |
| Tdrd9 |
G |
A |
12: 112,012,627 (GRCm39) |
V1184I |
probably benign |
Het |
| Tle1 |
T |
G |
4: 72,040,670 (GRCm39) |
K630Q |
possibly damaging |
Het |
| Traf3 |
A |
T |
12: 111,228,426 (GRCm39) |
T546S |
probably benign |
Het |
| Ttc17 |
G |
A |
2: 94,202,108 (GRCm39) |
T398M |
probably damaging |
Het |
| Ttn |
G |
C |
2: 76,698,692 (GRCm39) |
N136K |
|
Het |
| Ttn |
T |
C |
2: 76,747,111 (GRCm39) |
E4646G |
probably benign |
Het |
| Yipf7 |
C |
T |
5: 69,674,387 (GRCm39) |
V253I |
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 |
|
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 |
|
|
R8933:Xbp1
|
UTSW |
11 |
5,474,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTTTATACACATCTCTGCTTAC -3'
(R):5'- TTTGCCTGGCTAAGCGTGTC -3'
Sequencing Primer
(F):5'- CAGCAGAGTGTCTCACTGAATCTG -3'
(R):5'- GTGTCACACGCCACTTAGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation