Incidental Mutation 'R9739:Bend3'
ID |
731763 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bend3
|
Ensembl Gene |
ENSMUSG00000038214 |
Gene Name |
BEN domain containing 3 |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9739 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
43355130-43391413 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 43385847 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 80
(L80P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047251
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040147]
[ENSMUST00000167488]
[ENSMUST00000214116]
[ENSMUST00000216679]
|
AlphaFold |
Q6PAL0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040147
AA Change: L80P
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000047251 Gene: ENSMUSG00000038214 AA Change: L80P
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: L80P
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000127351 Gene: ENSMUSG00000038214 AA Change: L80P
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: ENSMUST00000214116
AA Change: L80P
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216679
AA Change: L80P
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
C |
T |
1: 25,592,849 (GRCm39) |
V313M |
probably damaging |
Het |
Alg6 |
G |
A |
4: 99,650,195 (GRCm39) |
V472I |
possibly damaging |
Het |
Atp8b2 |
A |
G |
3: 89,853,403 (GRCm39) |
V728A |
probably benign |
Het |
Bach2 |
T |
A |
4: 32,563,042 (GRCm39) |
I503N |
probably damaging |
Het |
Casq1 |
T |
C |
1: 172,043,051 (GRCm39) |
D215G |
possibly damaging |
Het |
Ccdc175 |
A |
T |
12: 72,186,792 (GRCm39) |
Y351N |
probably benign |
Het |
Cd200r4 |
A |
T |
16: 44,641,142 (GRCm39) |
|
probably benign |
Het |
Ctnnal1 |
T |
C |
4: 56,816,200 (GRCm39) |
D621G |
probably damaging |
Het |
Esco1 |
T |
A |
18: 10,594,218 (GRCm39) |
H356L |
probably benign |
Het |
Fhod1 |
C |
T |
8: 106,064,378 (GRCm39) |
V191M |
unknown |
Het |
Fhod3 |
T |
C |
18: 24,903,566 (GRCm39) |
L100P |
probably damaging |
Het |
Fkbp4 |
T |
C |
6: 128,410,728 (GRCm39) |
R234G |
probably benign |
Het |
Flnb |
A |
T |
14: 7,935,954 (GRCm38) |
K2265* |
probably null |
Het |
Fsip2 |
T |
C |
2: 82,823,896 (GRCm39) |
F6543S |
possibly damaging |
Het |
Fyb1 |
A |
G |
15: 6,670,063 (GRCm39) |
N594S |
probably benign |
Het |
Gm17019 |
G |
A |
5: 15,082,841 (GRCm39) |
R38* |
probably null |
Het |
Gm37240 |
A |
G |
3: 84,417,113 (GRCm39) |
|
probably null |
Het |
Gm9195 |
C |
T |
14: 72,690,264 (GRCm39) |
D1820N |
probably damaging |
Het |
Mycbp2 |
A |
G |
14: 103,520,229 (GRCm39) |
V729A |
probably benign |
Het |
Or8g21 |
G |
T |
9: 38,906,302 (GRCm39) |
S143* |
probably null |
Het |
Or9s18 |
T |
C |
13: 65,300,442 (GRCm39) |
S135P |
probably damaging |
Het |
Pde12 |
T |
C |
14: 26,386,757 (GRCm39) |
T584A |
possibly damaging |
Het |
Pfkfb2 |
T |
C |
1: 130,624,815 (GRCm39) |
Q515R |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,420,708 (GRCm39) |
N2466S |
probably damaging |
Het |
Plcd1 |
A |
G |
9: 118,901,195 (GRCm39) |
V720A |
possibly damaging |
Het |
Pramel24 |
T |
A |
4: 143,454,997 (GRCm39) |
F432I |
possibly damaging |
Het |
Rapgef6 |
A |
G |
11: 54,513,189 (GRCm39) |
T285A |
probably benign |
Het |
Scyl3 |
T |
C |
1: 163,771,419 (GRCm39) |
F255S |
probably damaging |
Het |
Sfrp5 |
T |
A |
19: 42,188,247 (GRCm39) |
M191L |
probably benign |
Het |
Snrpf |
C |
T |
10: 93,419,390 (GRCm39) |
C66Y |
probably benign |
Het |
Syngr2 |
T |
A |
11: 117,703,298 (GRCm39) |
I38N |
probably damaging |
Het |
Thap1 |
C |
T |
8: 26,650,990 (GRCm39) |
H87Y |
probably benign |
Het |
Tubgcp3 |
A |
G |
8: 12,699,744 (GRCm39) |
Y370H |
probably benign |
Het |
Usp17la |
A |
T |
7: 104,510,736 (GRCm39) |
N447I |
possibly damaging |
Het |
Zfp532 |
C |
T |
18: 65,757,894 (GRCm39) |
T609M |
probably benign |
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 |
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 |
RF010:Bend3
|
UTSW |
10 |
43,386,180 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCACAAGTATTCTACAAGAGCC -3'
(R):5'- TCCATGATCTTGTGGGAGATGC -3'
Sequencing Primer
(F):5'- GTATTCTACAAGAGCCTTACTGGG -3'
(R):5'- CATGATCTTGTGGGAGATGCCATAC -3'
|
Posted On |
2022-11-14 |