Incidental Mutation 'IGL03202:Bend5'
| ID |
413034 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bend5
|
| Ensembl Gene |
ENSMUSG00000028545 |
| Gene Name |
BEN domain containing 5 |
| Synonyms |
2310026E23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.179)
|
| Stock # |
IGL03202
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
111272203-111317495 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111290441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 146
(N146D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030274]
[ENSMUST00000080744]
[ENSMUST00000097920]
[ENSMUST00000106591]
[ENSMUST00000106592]
|
| AlphaFold |
Q8C6D4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030274
AA Change: N146D
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030274
Gene: ENSMUSG00000028545
AA Change: N146D
| 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 |
unknown
Transcript: ENSMUST00000139876
AA Change: N16D
|
| SMART Domains |
Protein: ENSMUSP00000119368
Gene: ENSMUSG00000028545
AA Change: N16D
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
50 |
112 |
N/A |
INTRINSIC |
|
Blast:BEN
|
115 |
150 |
8e-13 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130523
|
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 86,909,911 (GRCm39) |
M1T |
probably null |
Het |
| Ace |
T |
A |
11: 105,867,788 (GRCm39) |
I168N |
probably damaging |
Het |
| Actr10 |
T |
G |
12: 70,987,605 (GRCm39) |
C37W |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,125,268 (GRCm39) |
|
probably null |
Het |
| Cacna1b |
A |
G |
2: 24,541,124 (GRCm39) |
F1347L |
probably damaging |
Het |
| Crybg3 |
T |
A |
16: 59,315,072 (GRCm39) |
I2910F |
probably damaging |
Het |
| Cspg4 |
T |
C |
9: 56,805,023 (GRCm39) |
S1945P |
possibly damaging |
Het |
| Cxcr4 |
T |
G |
1: 128,516,641 (GRCm39) |
K340T |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,121,683 (GRCm39) |
Y1433F |
probably damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,231,101 (GRCm39) |
V77A |
probably damaging |
Het |
| Fscn3 |
A |
T |
6: 28,434,451 (GRCm39) |
H342L |
probably benign |
Het |
| Gm9843 |
T |
C |
16: 76,200,234 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac9 |
T |
C |
12: 34,423,950 (GRCm39) |
E520G |
probably damaging |
Het |
| Itm2b |
G |
A |
14: 73,603,229 (GRCm39) |
P120L |
probably damaging |
Het |
| Itpa |
T |
A |
2: 130,509,859 (GRCm39) |
|
probably benign |
Het |
| Lce1l |
A |
T |
3: 92,757,631 (GRCm39) |
C76S |
unknown |
Het |
| Lin54 |
A |
G |
5: 100,623,673 (GRCm39) |
S55P |
possibly damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,506,199 (GRCm39) |
E1923V |
probably benign |
Het |
| Mtfmt |
C |
A |
9: 65,356,008 (GRCm39) |
P303Q |
probably damaging |
Het |
| Nae1 |
A |
T |
8: 105,244,811 (GRCm39) |
|
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,983,011 (GRCm39) |
|
probably benign |
Het |
| Or13a19 |
A |
G |
7: 139,903,019 (GRCm39) |
M136V |
possibly damaging |
Het |
| Or1e22 |
G |
A |
11: 73,377,351 (GRCm39) |
Q100* |
probably null |
Het |
| Pcnx2 |
A |
C |
8: 126,498,783 (GRCm39) |
I1572S |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,144,669 (GRCm39) |
Y2809N |
probably damaging |
Het |
| Pygl |
G |
T |
12: 70,246,420 (GRCm39) |
Q376K |
probably benign |
Het |
| Resf1 |
G |
A |
6: 149,227,937 (GRCm39) |
V328I |
probably benign |
Het |
| Rrp12 |
T |
C |
19: 41,857,205 (GRCm39) |
|
probably null |
Het |
| Sephs1 |
A |
T |
2: 4,894,074 (GRCm39) |
I92F |
possibly damaging |
Het |
| Taar4 |
T |
C |
10: 23,836,692 (GRCm39) |
F101L |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 35,915,375 (GRCm39) |
I2053T |
probably damaging |
Het |
| Tgfbr3 |
T |
G |
5: 107,257,630 (GRCm39) |
|
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,691,319 (GRCm39) |
Y401* |
probably null |
Het |
| Vmn2r87 |
A |
G |
10: 130,333,091 (GRCm39) |
M53T |
probably benign |
Het |
| Zfp941 |
A |
G |
7: 140,392,966 (GRCm39) |
V131A |
probably benign |
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 |
|
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 |
|
R1306:Bend5
|
UTSW |
4 |
111,316,970 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation