Incidental Mutation 'R6761:Ebna1bp2'
| ID |
531692 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ebna1bp2
|
| Ensembl Gene |
ENSMUSG00000028729 |
| Gene Name |
EBNA1 binding protein 2 |
| Synonyms |
p40, Nobp, B830003A16Rik, Ebp2, 1810014B19Rik |
| MMRRC Submission |
044877-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R6761 (G1)
|
| Quality Score |
167.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
118477996-118484973 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 118480558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 134
(R134*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114372
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030501]
[ENSMUST00000071972]
[ENSMUST00000081921]
[ENSMUST00000147373]
|
| AlphaFold |
Q9D903 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030501
AA Change: R171*
|
| SMART Domains |
Protein: ENSMUSP00000030501
Gene: ENSMUSG00000028729
AA Change: R171*
| 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 |
probably null
Transcript: ENSMUST00000147373
AA Change: R134*
|
| SMART Domains |
Protein: ENSMUSP00000114372
Gene: ENSMUSG00000028729
AA Change: R134*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ebp2
|
13 |
187 |
4.8e-65 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.5%
|
| Validation Efficiency |
97% (34/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
T |
C |
17: 35,878,845 (GRCm39) |
V61A |
probably benign |
Het |
| Actr3b |
C |
T |
5: 26,030,137 (GRCm39) |
S67F |
probably damaging |
Het |
| Ap3m1 |
T |
C |
14: 21,088,096 (GRCm39) |
M107V |
probably benign |
Het |
| Ccdc27 |
C |
T |
4: 154,122,155 (GRCm39) |
G241D |
unknown |
Het |
| Cit |
T |
G |
5: 116,046,734 (GRCm39) |
D382E |
probably damaging |
Het |
| Clec3b |
G |
T |
9: 122,986,004 (GRCm39) |
G134V |
probably damaging |
Het |
| Cntnap2 |
T |
A |
6: 47,026,307 (GRCm39) |
H44Q |
probably benign |
Het |
| Dst |
T |
C |
1: 34,253,631 (GRCm39) |
S4300P |
probably damaging |
Het |
| Efcab14 |
T |
C |
4: 115,596,024 (GRCm39) |
S57P |
probably damaging |
Het |
| Exosc2 |
T |
C |
2: 31,560,875 (GRCm39) |
|
probably null |
Het |
| Hfm1 |
T |
C |
5: 107,043,145 (GRCm39) |
T630A |
probably damaging |
Het |
| Hkdc1 |
A |
T |
10: 62,244,477 (GRCm39) |
I203N |
possibly damaging |
Het |
| Hltf |
T |
A |
3: 20,137,996 (GRCm39) |
|
probably null |
Het |
| Igkv3-2 |
G |
T |
6: 70,675,501 (GRCm39) |
|
probably benign |
Het |
| Mslnl |
A |
G |
17: 25,965,047 (GRCm39) |
D471G |
probably damaging |
Het |
| Msmo1 |
A |
G |
8: 65,172,061 (GRCm39) |
Y281H |
probably benign |
Het |
| Nid1 |
A |
G |
13: 13,656,620 (GRCm39) |
T584A |
probably benign |
Het |
| Olfr908 |
A |
G |
9: 38,427,561 (GRCm39) |
T78A |
probably damaging |
Het |
| Or52a24 |
C |
T |
7: 103,381,691 (GRCm39) |
A186V |
probably damaging |
Het |
| Otoa |
G |
A |
7: 120,721,173 (GRCm39) |
G396D |
probably damaging |
Het |
| Prss45 |
G |
T |
9: 110,669,487 (GRCm39) |
A197S |
probably damaging |
Het |
| Prxl2a |
T |
A |
14: 40,716,578 (GRCm39) |
H198L |
probably damaging |
Het |
| Rpap2 |
T |
A |
5: 107,768,104 (GRCm39) |
I314N |
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,620,286 (GRCm39) |
M458T |
probably damaging |
Het |
| Slc44a5 |
A |
G |
3: 153,945,714 (GRCm39) |
|
probably null |
Het |
| Sorbs2 |
T |
C |
8: 46,225,651 (GRCm39) |
S254P |
probably damaging |
Het |
| Sycp2 |
T |
C |
2: 178,016,144 (GRCm39) |
|
probably null |
Het |
| Tedc1 |
A |
G |
12: 113,125,334 (GRCm39) |
D252G |
probably damaging |
Het |
| Uty |
T |
C |
Y: 1,186,790 (GRCm39) |
H145R |
probably damaging |
Homo |
| Vmn1r9 |
A |
G |
6: 57,048,291 (GRCm39) |
Y122C |
probably benign |
Het |
| Wdfy4 |
T |
A |
14: 32,817,908 (GRCm39) |
N1491Y |
possibly damaging |
Het |
| Wdr37 |
T |
C |
13: 8,899,684 (GRCm39) |
T140A |
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 |
|
R2987:Ebna1bp2
|
UTSW |
4 |
118,478,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5865:Ebna1bp2
|
UTSW |
4 |
118,478,332 (GRCm39) |
unclassified |
probably benign |
|
|
R5889:Ebna1bp2
|
UTSW |
4 |
118,478,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TCAGCTTTGGGACCGTATTG -3'
(R):5'- TCTAGAGACTGCAGCTCAGC -3'
Sequencing Primer
(F):5'- CTTTGGGACCGTATTGTTTTAATTTG -3'
(R):5'- TGCTACCACACTATGCTGGATAC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation