Incidental Mutation 'R2987:Ebna1bp2'
| ID |
257815 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ebna1bp2
|
| Ensembl Gene |
ENSMUSG00000028729 |
| Gene Name |
EBNA1 binding protein 2 |
| Synonyms |
p40, Nobp, B830003A16Rik, Ebp2, 1810014B19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R2987 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
118477996-118484973 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118478133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 2
(D2G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030501]
[ENSMUST00000071972]
[ENSMUST00000081921]
[ENSMUST00000147373]
|
| AlphaFold |
Q9D903 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030501
AA Change: D2G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030501
Gene: ENSMUSG00000028729
AA Change: D2G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ebp2
|
18 |
298 |
2.1e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071972
|
| SMART Domains |
Protein: ENSMUSP00000071863
Gene: ENSMUSG00000028730
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
44 |
88 |
3e-12 |
BLAST |
|
Blast:WD40
|
95 |
137 |
1e-9 |
BLAST |
|
WD40
|
140 |
181 |
1.77e2 |
SMART |
|
internal_repeat_1
|
182 |
237 |
7.23e-5 |
PROSPERO |
|
WD40
|
329 |
365 |
1.27e2 |
SMART |
|
WD40
|
376 |
416 |
3.4e-2 |
SMART |
|
WD40
|
418 |
456 |
1.59e1 |
SMART |
|
Blast:WD40
|
461 |
497 |
4e-18 |
BLAST |
|
WD40
|
500 |
539 |
9.67e-7 |
SMART |
|
WD40
|
544 |
581 |
3.96e1 |
SMART |
|
Blast:WD40
|
582 |
621 |
8e-16 |
BLAST |
|
WD40
|
626 |
665 |
3.21e-1 |
SMART |
|
coiled coil region
|
690 |
1056 |
N/A |
INTRINSIC |
|
coiled coil region
|
1094 |
1166 |
N/A |
INTRINSIC |
|
coiled coil region
|
1197 |
1222 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081921
|
| SMART Domains |
Protein: ENSMUSP00000080592
Gene: ENSMUSG00000028730
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
44 |
88 |
3e-12 |
BLAST |
|
Blast:WD40
|
95 |
137 |
1e-9 |
BLAST |
|
WD40
|
140 |
181 |
1.77e2 |
SMART |
|
internal_repeat_1
|
182 |
237 |
7.23e-5 |
PROSPERO |
|
WD40
|
329 |
365 |
1.27e2 |
SMART |
|
WD40
|
376 |
416 |
3.4e-2 |
SMART |
|
WD40
|
418 |
456 |
1.59e1 |
SMART |
|
Blast:WD40
|
461 |
497 |
4e-18 |
BLAST |
|
WD40
|
500 |
539 |
9.67e-7 |
SMART |
|
WD40
|
544 |
581 |
3.96e1 |
SMART |
|
Blast:WD40
|
582 |
621 |
8e-16 |
BLAST |
|
WD40
|
626 |
665 |
3.21e-1 |
SMART |
|
coiled coil region
|
690 |
1056 |
N/A |
INTRINSIC |
|
coiled coil region
|
1094 |
1166 |
N/A |
INTRINSIC |
|
coiled coil region
|
1197 |
1222 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126458
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130219
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147373
|
| SMART Domains |
Protein: ENSMUSP00000114372
Gene: ENSMUSG00000028729
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ebp2
|
13 |
187 |
4.8e-65 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149837
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
T |
C |
5: 30,402,358 (GRCm39) |
I557V |
probably damaging |
Het |
| Bag6 |
T |
A |
17: 35,364,661 (GRCm39) |
L983* |
probably null |
Het |
| Clcn1 |
A |
G |
6: 42,275,784 (GRCm39) |
Y302C |
probably damaging |
Het |
| Dlc1 |
A |
T |
8: 37,041,306 (GRCm39) |
C1308S |
probably damaging |
Het |
| Exoc6b |
T |
A |
6: 84,828,929 (GRCm39) |
K485I |
probably damaging |
Het |
| Galnt3 |
C |
T |
2: 65,914,585 (GRCm39) |
E611K |
probably benign |
Het |
| Gm5901 |
A |
G |
7: 105,026,507 (GRCm39) |
I92V |
probably benign |
Het |
| Kcnh8 |
A |
T |
17: 53,263,763 (GRCm39) |
L753F |
probably benign |
Het |
| L3mbtl4 |
T |
C |
17: 68,666,513 (GRCm39) |
S14P |
possibly damaging |
Het |
| Map4k4 |
A |
G |
1: 40,025,925 (GRCm39) |
H305R |
probably damaging |
Het |
| Nid1 |
A |
T |
13: 13,674,258 (GRCm39) |
Y879F |
probably benign |
Het |
| Nsf |
A |
T |
11: 103,749,869 (GRCm39) |
|
probably null |
Het |
| Olfml2a |
G |
A |
2: 38,837,306 (GRCm39) |
V150M |
probably damaging |
Het |
| Or51a24 |
A |
G |
7: 103,734,077 (GRCm39) |
V70A |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,174,823 (GRCm39) |
D3744E |
possibly damaging |
Het |
| Pla1a |
A |
T |
16: 38,228,104 (GRCm39) |
C258S |
probably damaging |
Het |
| Plk2 |
A |
T |
13: 110,534,243 (GRCm39) |
R274S |
probably benign |
Het |
| Sumf2 |
T |
C |
5: 129,875,925 (GRCm39) |
L30P |
possibly damaging |
Het |
| Synpo2 |
T |
C |
3: 122,910,622 (GRCm39) |
H341R |
probably damaging |
Het |
| Trbv12-1 |
G |
A |
6: 41,090,840 (GRCm39) |
E71K |
probably benign |
Het |
| Usp17lc |
T |
C |
7: 103,067,509 (GRCm39) |
V268A |
probably damaging |
Het |
| Vmn1r36 |
A |
T |
6: 66,693,700 (GRCm39) |
H21Q |
probably benign |
Het |
|
| Other mutations in Ebna1bp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00427:Ebna1bp2
|
APN |
4 |
118,483,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02390:Ebna1bp2
|
APN |
4 |
118,478,694 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
arch
|
UTSW |
4 |
118,478,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1451:Ebna1bp2
|
UTSW |
4 |
118,478,269 (GRCm39) |
splice site |
probably null |
|
|
R1713:Ebna1bp2
|
UTSW |
4 |
118,482,881 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5865:Ebna1bp2
|
UTSW |
4 |
118,478,332 (GRCm39) |
unclassified |
probably benign |
|
|
R5889:Ebna1bp2
|
UTSW |
4 |
118,478,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6761:Ebna1bp2
|
UTSW |
4 |
118,480,558 (GRCm39) |
nonsense |
probably null |
|
|
R6806:Ebna1bp2
|
UTSW |
4 |
118,478,174 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7014:Ebna1bp2
|
UTSW |
4 |
118,480,575 (GRCm39) |
nonsense |
probably null |
|
|
R7075:Ebna1bp2
|
UTSW |
4 |
118,479,299 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7123:Ebna1bp2
|
UTSW |
4 |
118,482,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9567:Ebna1bp2
|
UTSW |
4 |
118,478,190 (GRCm39) |
missense |
probably benign |
|
|
R9626:Ebna1bp2
|
UTSW |
4 |
118,478,371 (GRCm39) |
start gained |
probably benign |
|
|
R9766:Ebna1bp2
|
UTSW |
4 |
118,480,821 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1176:Ebna1bp2
|
UTSW |
4 |
118,478,343 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGATCCGAAGCAATCCGG -3'
(R):5'- TAGCACGACATTGAGACCTGG -3'
Sequencing Primer
(F):5'- AAGCAATCCGGGCACGC -3'
(R):5'- ACATTGAGACCTGGCTTCAG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation