Incidental Mutation 'IGL00980:Bend3'
| ID |
28430 |
| 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 # |
IGL00980
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
43355130-43391413 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 43387562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 652
(Q652K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040147]
[ENSMUST00000167488]
[ENSMUST00000214116]
[ENSMUST00000216679]
|
| AlphaFold |
Q6PAL0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040147
AA Change: Q652K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000047251
Gene: ENSMUSG00000038214
AA Change: Q652K
| 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 damaging
Transcript: ENSMUST00000167488
AA Change: Q652K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000127351
Gene: ENSMUSG00000038214
AA Change: Q652K
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
T |
14: 66,293,977 (GRCm39) |
Y283* |
probably null |
Het |
| Bltp1 |
C |
T |
3: 37,054,190 (GRCm39) |
T3103I |
probably damaging |
Het |
| Ccdc136 |
G |
A |
6: 29,420,257 (GRCm39) |
S992N |
probably damaging |
Het |
| Cct6a |
T |
C |
5: 129,868,856 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
A |
T |
18: 60,944,398 (GRCm39) |
I203F |
probably benign |
Het |
| Cd8b1 |
C |
A |
6: 71,309,463 (GRCm39) |
C182* |
probably null |
Het |
| Cmtr1 |
T |
A |
17: 29,910,258 (GRCm39) |
D454E |
probably benign |
Het |
| Cyp2b13 |
T |
A |
7: 25,781,152 (GRCm39) |
F188Y |
probably benign |
Het |
| Dppa2 |
T |
C |
16: 48,132,049 (GRCm39) |
S49P |
possibly damaging |
Het |
| Fhl5 |
G |
T |
4: 25,207,181 (GRCm39) |
L196I |
possibly damaging |
Het |
| Gimap4 |
T |
A |
6: 48,667,872 (GRCm39) |
V81D |
probably damaging |
Het |
| Gm4884 |
T |
G |
7: 40,693,150 (GRCm39) |
M373R |
probably damaging |
Het |
| Gnrhr |
C |
T |
5: 86,345,162 (GRCm39) |
|
probably null |
Het |
| H2-Oa |
T |
G |
17: 34,313,537 (GRCm39) |
L196R |
probably damaging |
Het |
| Icosl |
T |
C |
10: 77,907,805 (GRCm39) |
S122P |
probably damaging |
Het |
| Itpr3 |
A |
G |
17: 27,329,930 (GRCm39) |
T1575A |
probably benign |
Het |
| Krt80 |
T |
C |
15: 101,247,879 (GRCm39) |
K373E |
possibly damaging |
Het |
| Lamp1 |
G |
A |
8: 13,221,195 (GRCm39) |
|
probably benign |
Het |
| Npvf |
T |
C |
6: 50,627,865 (GRCm39) |
K185E |
probably damaging |
Het |
| Nuf2 |
A |
G |
1: 169,338,003 (GRCm39) |
M258T |
probably damaging |
Het |
| Or6b2 |
T |
C |
1: 92,407,402 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
G |
A |
9: 37,937,107 (GRCm39) |
V2I |
probably benign |
Het |
| Smurf2 |
A |
C |
11: 106,726,921 (GRCm39) |
I469S |
probably damaging |
Het |
| Soat1 |
T |
A |
1: 156,268,911 (GRCm39) |
H180L |
probably benign |
Het |
| Spink5 |
G |
T |
18: 44,140,777 (GRCm39) |
D659Y |
probably damaging |
Het |
| Sprtn |
T |
C |
8: 125,627,037 (GRCm39) |
M139T |
probably damaging |
Het |
| Tas2r140 |
T |
C |
6: 40,468,352 (GRCm39) |
S61P |
possibly damaging |
Het |
| Tec |
G |
A |
5: 72,944,141 (GRCm39) |
L89F |
probably damaging |
Het |
| Trav21-dv12 |
A |
T |
14: 54,114,107 (GRCm39) |
M76L |
probably benign |
Het |
| Ttc7 |
A |
C |
17: 87,628,874 (GRCm39) |
T271P |
possibly damaging |
Het |
| Tyk2 |
G |
A |
9: 21,031,884 (GRCm39) |
T397I |
probably benign |
Het |
| Ugt1a6b |
T |
A |
1: 88,035,327 (GRCm39) |
Y222N |
possibly damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,024,601 (GRCm39) |
M660K |
probably benign |
Het |
| Vmn2r52 |
T |
A |
7: 9,905,017 (GRCm39) |
Y274F |
probably damaging |
Het |
| Wscd1 |
A |
C |
11: 71,679,768 (GRCm39) |
N547T |
possibly damaging |
Het |
| Zfp335 |
C |
A |
2: 164,744,594 (GRCm39) |
E394* |
probably null |
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 |
|
IGL00977:Bend3
|
APN |
10 |
43,386,945 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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