Incidental Mutation 'R1306:Bend5'
| ID |
157796 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bend5
|
| Ensembl Gene |
ENSMUSG00000028545 |
| Gene Name |
BEN domain containing 5 |
| Synonyms |
2310026E23Rik |
| MMRRC Submission |
039372-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R1306 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
111272203-111317495 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 111316970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 127
(Q127*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030274]
[ENSMUST00000080744]
[ENSMUST00000097920]
[ENSMUST00000106591]
[ENSMUST00000106592]
|
| AlphaFold |
Q8C6D4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030274
AA Change: Q378*
|
| SMART Domains |
Protein: ENSMUSP00000030274
Gene: ENSMUSG00000028545
AA Change: Q378*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
180 |
242 |
N/A |
INTRINSIC |
|
BEN
|
322 |
397 |
4.7e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080744
|
| SMART Domains |
Protein: ENSMUSP00000079568
Gene: ENSMUSG00000061298
| Domain | Start | End | E-Value | Type |
|---|
|
Zn_pept
|
169 |
436 |
4.95e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097920
|
| SMART Domains |
Protein: ENSMUSP00000095533
Gene: ENSMUSG00000061298
| Domain | Start | End | E-Value | Type |
|---|
|
Zn_pept
|
169 |
465 |
3.6e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106591
|
| SMART Domains |
Protein: ENSMUSP00000102201
Gene: ENSMUSG00000061298
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M14
|
174 |
321 |
3.7e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106592
|
| SMART Domains |
Protein: ENSMUSP00000102202
Gene: ENSMUSG00000061298
| Domain | Start | End | E-Value | Type |
|---|
|
Zn_pept
|
169 |
436 |
4.95e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123667
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129760
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000139876
AA Change: Q127*
|
| SMART Domains |
Protein: ENSMUSP00000119368
Gene: ENSMUSG00000028545
AA Change: Q127*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
50 |
112 |
N/A |
INTRINSIC |
|
Blast:BEN
|
115 |
150 |
8e-13 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148038
|
| SMART Domains |
Protein: ENSMUSP00000118551
Gene: ENSMUSG00000061298
| Domain | Start | End | E-Value | Type |
|---|
|
Zn_pept
|
15 |
267 |
9.65e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 89.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
T |
A |
7: 80,743,621 (GRCm39) |
L1146H |
probably damaging |
Het |
| Atad2b |
A |
G |
12: 5,024,239 (GRCm39) |
I121M |
probably benign |
Het |
| Atg2a |
A |
T |
19: 6,303,051 (GRCm39) |
T1053S |
probably benign |
Het |
| Ccser1 |
G |
A |
6: 62,357,090 (GRCm39) |
D843N |
probably damaging |
Het |
| Dennd4b |
A |
G |
3: 90,178,472 (GRCm39) |
T512A |
probably benign |
Het |
| Dnmbp |
A |
T |
19: 43,890,218 (GRCm39) |
D516E |
probably benign |
Het |
| Dok3 |
C |
A |
13: 55,675,261 (GRCm39) |
E86* |
probably null |
Het |
| Fat3 |
A |
G |
9: 16,287,975 (GRCm39) |
I516T |
probably damaging |
Het |
| Gabbr1 |
T |
A |
17: 37,366,882 (GRCm39) |
|
probably null |
Het |
| Gjd2 |
T |
C |
2: 113,842,346 (GRCm39) |
T44A |
probably damaging |
Het |
| Mcm7 |
C |
A |
5: 138,165,465 (GRCm39) |
A480S |
probably damaging |
Het |
| Meox2 |
GCACCACCACCACCACCACCA |
GCACCACCACCACCACCA |
12: 37,159,030 (GRCm39) |
|
probably benign |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Pdzph1 |
T |
C |
17: 59,239,427 (GRCm39) |
H967R |
possibly damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,718,154 (GRCm39) |
N227S |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,792,146 (GRCm39) |
S1278P |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,091,597 (GRCm39) |
E71G |
probably damaging |
Het |
| Pnma8a |
A |
G |
7: 16,695,950 (GRCm39) |
R428G |
probably benign |
Het |
| Sertad2 |
T |
C |
11: 20,598,388 (GRCm39) |
S195P |
probably benign |
Het |
| Slc19a3 |
A |
G |
1: 83,000,483 (GRCm39) |
L178S |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,748,388 (GRCm39) |
D139G |
possibly damaging |
Het |
| Tm4sf19 |
G |
A |
16: 32,226,720 (GRCm39) |
V170M |
probably damaging |
Het |
| Vwa3a |
C |
G |
7: 120,399,613 (GRCm39) |
S1031R |
possibly damaging |
Het |
|
| Other mutations in Bend5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01109:Bend5
|
APN |
4 |
111,305,838 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02083:Bend5
|
APN |
4 |
111,316,964 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03202:Bend5
|
APN |
4 |
111,290,441 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03379:Bend5
|
APN |
4 |
111,311,468 (GRCm39) |
missense |
probably benign |
0.06 |
|
PIT4378001:Bend5
|
UTSW |
4 |
111,288,304 (GRCm39) |
missense |
probably benign |
|
|
R0639:Bend5
|
UTSW |
4 |
111,290,495 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1535:Bend5
|
UTSW |
4 |
111,316,960 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1768:Bend5
|
UTSW |
4 |
111,311,438 (GRCm39) |
nonsense |
probably null |
|
|
R2116:Bend5
|
UTSW |
4 |
111,272,436 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2216:Bend5
|
UTSW |
4 |
111,305,787 (GRCm39) |
missense |
probably null |
0.00 |
|
R2256:Bend5
|
UTSW |
4 |
111,288,207 (GRCm39) |
intron |
probably benign |
|
|
R3927:Bend5
|
UTSW |
4 |
111,305,802 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5408:Bend5
|
UTSW |
4 |
111,311,280 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5841:Bend5
|
UTSW |
4 |
111,290,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7860:Bend5
|
UTSW |
4 |
111,272,406 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8063:Bend5
|
UTSW |
4 |
111,317,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATACGGAGAACTCAGCATCCAGGG -3'
(R):5'- TGGCACCATCACCTGAAATGCATAC -3'
Sequencing Primer
(F):5'- gctgccctctgactcac -3'
(R):5'- TCACCTGAAATGCATACACCAC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation