Incidental Mutation 'IGL00341:Bend3'
ID |
6108 |
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 # |
IGL00341
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
43355130-43391413 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43387539 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 644
(D644G)
|
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: D644G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000047251 Gene: ENSMUSG00000038214 AA Change: D644G
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: D644G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127351 Gene: ENSMUSG00000038214 AA Change: D644G
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef5 |
T |
A |
6: 43,257,203 (GRCm39) |
Y519* |
probably null |
Het |
Bahcc1 |
A |
G |
11: 120,163,130 (GRCm39) |
Y476C |
probably damaging |
Het |
Bclaf1 |
A |
T |
10: 20,201,745 (GRCm39) |
E295D |
probably damaging |
Het |
Ccdc122 |
G |
A |
14: 77,329,179 (GRCm39) |
M77I |
probably benign |
Het |
Ccna1 |
A |
G |
3: 54,958,076 (GRCm39) |
V143A |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 118,162,480 (GRCm39) |
R30G |
probably benign |
Het |
Hoxc4 |
A |
G |
15: 102,944,264 (GRCm39) |
D214G |
probably damaging |
Het |
Itsn2 |
A |
T |
12: 4,708,027 (GRCm39) |
T778S |
possibly damaging |
Het |
Kcnn2 |
A |
G |
18: 45,810,138 (GRCm39) |
|
probably benign |
Het |
Krtap5-3 |
G |
T |
7: 141,755,612 (GRCm39) |
|
probably benign |
Het |
Lgr5 |
G |
T |
10: 115,290,369 (GRCm39) |
Q516K |
possibly damaging |
Het |
Lrpprc |
T |
C |
17: 85,057,953 (GRCm39) |
K759R |
possibly damaging |
Het |
Mtfr2 |
A |
G |
10: 20,233,394 (GRCm39) |
D321G |
probably damaging |
Het |
Nip7 |
A |
G |
8: 107,783,802 (GRCm39) |
Y45C |
possibly damaging |
Het |
Or4c111 |
T |
C |
2: 88,844,268 (GRCm39) |
I47V |
probably benign |
Het |
Pak1ip1 |
A |
T |
13: 41,161,494 (GRCm39) |
T84S |
possibly damaging |
Het |
Ptpn20 |
C |
A |
14: 33,344,576 (GRCm39) |
R167S |
probably benign |
Het |
Rab4b |
C |
T |
7: 26,872,151 (GRCm39) |
G190S |
probably damaging |
Het |
Ropn1l |
T |
A |
15: 31,443,495 (GRCm39) |
D179V |
probably damaging |
Het |
Shc2 |
C |
T |
10: 79,456,903 (GRCm39) |
R571Q |
probably damaging |
Het |
Smad1 |
A |
G |
8: 80,083,098 (GRCm39) |
V134A |
probably damaging |
Het |
Smad6 |
A |
G |
9: 63,861,263 (GRCm39) |
V344A |
probably damaging |
Het |
Tet2 |
A |
G |
3: 133,193,846 (GRCm39) |
L196P |
possibly damaging |
Het |
Tmem64 |
T |
A |
4: 15,266,694 (GRCm39) |
V248E |
probably damaging |
Het |
Ttc7 |
C |
T |
17: 87,670,992 (GRCm39) |
T709I |
possibly damaging |
Het |
Usp31 |
A |
G |
7: 121,305,893 (GRCm39) |
L195P |
probably damaging |
Het |
Vmn2r112 |
G |
A |
17: 22,837,917 (GRCm39) |
V793I |
probably benign |
Het |
Xpo5 |
T |
G |
17: 46,535,973 (GRCm39) |
L535R |
probably damaging |
Het |
Ythdc2 |
A |
T |
18: 44,983,464 (GRCm39) |
M544L |
probably benign |
Het |
|
Other mutations in Bend3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2012-04-20 |