Incidental Mutation 'IGL02083:Bend5'
ID |
283430 |
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: 0.155)
|
Stock # |
IGL02083
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
111272203-111317495 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 111316964 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 376
(I376L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030274
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030274]
[ENSMUST00000080744]
[ENSMUST00000097920]
[ENSMUST00000106591]
[ENSMUST00000106592]
|
AlphaFold |
Q8C6D4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030274
AA Change: I376L
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000030274 Gene: ENSMUSG00000028545 AA Change: I376L
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 |
unknown
Transcript: ENSMUST00000139876
AA Change: I125L
|
SMART Domains |
Protein: ENSMUSP00000119368 Gene: ENSMUSG00000028545 AA Change: I125L
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: ENSMUST00000129760
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
A |
C |
11: 69,780,336 (GRCm39) |
L36V |
possibly damaging |
Het |
Aoc1l1 |
G |
A |
6: 48,953,194 (GRCm39) |
G373D |
probably damaging |
Het |
Atp13a3 |
T |
C |
16: 30,166,524 (GRCm39) |
T540A |
possibly damaging |
Het |
Ccdc138 |
T |
C |
10: 58,380,736 (GRCm39) |
|
probably benign |
Het |
Cdh10 |
T |
A |
15: 18,986,975 (GRCm39) |
I402N |
possibly damaging |
Het |
Cfap44 |
T |
C |
16: 44,257,525 (GRCm39) |
V1020A |
probably damaging |
Het |
Chd2 |
A |
T |
7: 73,130,816 (GRCm39) |
S749T |
possibly damaging |
Het |
Enpp3 |
T |
A |
10: 24,652,692 (GRCm39) |
D755V |
probably damaging |
Het |
Fmo6 |
T |
A |
1: 162,748,033 (GRCm39) |
K344* |
probably null |
Het |
Gabbr1 |
A |
G |
17: 37,380,957 (GRCm39) |
T767A |
possibly damaging |
Het |
Gjd3 |
A |
G |
11: 98,873,587 (GRCm39) |
S86P |
probably damaging |
Het |
Grin1 |
A |
G |
2: 25,188,513 (GRCm39) |
V432A |
possibly damaging |
Het |
Igf2r |
A |
T |
17: 12,912,079 (GRCm39) |
C1849* |
probably null |
Het |
Jcad |
G |
T |
18: 4,680,266 (GRCm39) |
|
probably benign |
Het |
Mrgpra4 |
A |
T |
7: 47,630,808 (GRCm39) |
C264* |
probably null |
Het |
Naa80 |
G |
T |
9: 107,460,798 (GRCm39) |
R231L |
probably benign |
Het |
Napepld |
T |
C |
5: 21,881,065 (GRCm39) |
Y110C |
probably damaging |
Het |
Ncapd3 |
A |
G |
9: 26,963,117 (GRCm39) |
E474G |
probably damaging |
Het |
Pkhd1 |
T |
A |
1: 20,271,451 (GRCm39) |
D3034V |
probably damaging |
Het |
Plxnc1 |
T |
C |
10: 94,758,587 (GRCm39) |
T370A |
possibly damaging |
Het |
Ptger4 |
C |
T |
15: 5,272,655 (GRCm39) |
R13H |
probably benign |
Het |
Scg2 |
T |
A |
1: 79,413,941 (GRCm39) |
T261S |
probably benign |
Het |
Sfswap |
T |
C |
5: 129,616,855 (GRCm39) |
V433A |
probably benign |
Het |
Sipa1l3 |
A |
G |
7: 29,086,686 (GRCm39) |
Y635H |
probably damaging |
Het |
Sp5 |
C |
A |
2: 70,306,758 (GRCm39) |
P148T |
possibly damaging |
Het |
Tlr5 |
A |
G |
1: 182,801,449 (GRCm39) |
N251S |
possibly damaging |
Het |
Tmem87a |
A |
T |
2: 120,227,861 (GRCm39) |
N95K |
probably damaging |
Het |
Unc45b |
C |
T |
11: 82,813,745 (GRCm39) |
T384M |
probably damaging |
Het |
Unc5c |
T |
C |
3: 141,420,408 (GRCm39) |
L117P |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,873,684 (GRCm39) |
N57D |
probably damaging |
Het |
Zcchc8 |
G |
T |
5: 123,838,981 (GRCm39) |
T519K |
probably damaging |
Het |
Zfp729b |
G |
A |
13: 67,743,349 (GRCm39) |
T72I |
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 |
IGL03202:Bend5
|
APN |
4 |
111,290,441 (GRCm39) |
missense |
possibly damaging |
0.79 |
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 |
2015-04-16 |