Incidental Mutation 'IGL00977:Bend3'
| ID |
28425 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bend3
|
| Ensembl Gene |
ENSMUSG00000038214 |
| Gene Name |
BEN domain containing 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00977
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
43355130-43391413 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43386945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 446
(Q446R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040147]
[ENSMUST00000167488]
[ENSMUST00000214116]
[ENSMUST00000216679]
|
| AlphaFold |
Q6PAL0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040147
AA Change: Q446R
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000047251
Gene: ENSMUSG00000038214
AA Change: Q446R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
159 |
172 |
N/A |
INTRINSIC |
|
BEN
|
261 |
340 |
1.76e-15 |
SMART |
|
BEN
|
405 |
484 |
5.75e-20 |
SMART |
|
BEN
|
568 |
647 |
4.71e-16 |
SMART |
|
low complexity region
|
674 |
690 |
N/A |
INTRINSIC |
|
low complexity region
|
704 |
715 |
N/A |
INTRINSIC |
|
BEN
|
734 |
813 |
1.02e-20 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167488
AA Change: Q446R
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000127351
Gene: ENSMUSG00000038214
AA Change: Q446R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
159 |
172 |
N/A |
INTRINSIC |
|
BEN
|
261 |
340 |
1.76e-15 |
SMART |
|
BEN
|
405 |
484 |
5.75e-20 |
SMART |
|
BEN
|
568 |
647 |
4.71e-16 |
SMART |
|
low complexity region
|
674 |
690 |
N/A |
INTRINSIC |
|
low complexity region
|
704 |
715 |
N/A |
INTRINSIC |
|
BEN
|
734 |
813 |
1.02e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214116
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216679
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,349,284 (GRCm39) |
F3619L |
probably damaging |
Het |
| Asic5 |
T |
A |
3: 81,911,953 (GRCm39) |
V183E |
possibly damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,822,837 (GRCm39) |
V164A |
possibly damaging |
Het |
| Ccdc80 |
C |
A |
16: 44,916,627 (GRCm39) |
T461K |
probably benign |
Het |
| Cep350 |
T |
A |
1: 155,808,611 (GRCm39) |
E655V |
probably null |
Het |
| Chi3l1 |
T |
C |
1: 134,115,711 (GRCm39) |
F232L |
possibly damaging |
Het |
| Degs1 |
T |
A |
1: 182,106,774 (GRCm39) |
I162F |
probably benign |
Het |
| Dhdds |
A |
T |
4: 133,727,571 (GRCm39) |
|
probably benign |
Het |
| Herc4 |
A |
T |
10: 63,147,346 (GRCm39) |
Y821F |
probably damaging |
Het |
| Hpf1 |
A |
G |
8: 61,358,753 (GRCm39) |
H303R |
probably benign |
Het |
| Kcnk10 |
A |
T |
12: 98,484,792 (GRCm39) |
C115S |
probably damaging |
Het |
| Map3k13 |
T |
C |
16: 21,740,514 (GRCm39) |
S614P |
probably benign |
Het |
| Me2 |
A |
T |
18: 73,924,248 (GRCm39) |
N321K |
probably benign |
Het |
| Med16 |
A |
T |
10: 79,743,459 (GRCm39) |
M1K |
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,410,078 (GRCm39) |
F2651L |
probably damaging |
Het |
| Prrc2b |
C |
T |
2: 32,103,822 (GRCm39) |
T1100I |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,314,645 (GRCm39) |
Q1680L |
probably damaging |
Het |
| Sh3rf2 |
A |
G |
18: 42,244,283 (GRCm39) |
T250A |
probably benign |
Het |
| Sting1 |
C |
T |
18: 35,867,620 (GRCm39) |
E359K |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 44,022,451 (GRCm39) |
F950L |
possibly damaging |
Het |
| Vmn2r129 |
C |
A |
4: 156,686,491 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Bend3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Bend3
|
APN |
10 |
43,387,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00980:Bend3
|
APN |
10 |
43,387,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02457:Bend3
|
APN |
10 |
43,385,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4515001:Bend3
|
UTSW |
10 |
43,386,630 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0148:Bend3
|
UTSW |
10 |
43,387,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1484:Bend3
|
UTSW |
10 |
43,386,197 (GRCm39) |
missense |
probably benign |
|
|
R2046:Bend3
|
UTSW |
10 |
43,387,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2098:Bend3
|
UTSW |
10 |
43,386,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3419:Bend3
|
UTSW |
10 |
43,385,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3854:Bend3
|
UTSW |
10 |
43,386,713 (GRCm39) |
unclassified |
probably benign |
|
|
R4449:Bend3
|
UTSW |
10 |
43,388,079 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4765:Bend3
|
UTSW |
10 |
43,386,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5070:Bend3
|
UTSW |
10 |
43,369,681 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5299:Bend3
|
UTSW |
10 |
43,369,686 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5456:Bend3
|
UTSW |
10 |
43,386,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5530:Bend3
|
UTSW |
10 |
43,387,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5976:Bend3
|
UTSW |
10 |
43,386,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6173:Bend3
|
UTSW |
10 |
43,385,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7227:Bend3
|
UTSW |
10 |
43,387,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7256:Bend3
|
UTSW |
10 |
43,369,667 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8273:Bend3
|
UTSW |
10 |
43,386,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9328:Bend3
|
UTSW |
10 |
43,387,419 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9739:Bend3
|
UTSW |
10 |
43,385,847 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
RF010:Bend3
|
UTSW |
10 |
43,386,180 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Posted On |
2013-04-17 |
Incidental Mutation