Incidental Mutation 'IGL00436:Bop1'
| ID |
4079 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bop1
|
| Ensembl Gene |
ENSMUSG00000022557 |
| Gene Name |
block of proliferation 1 |
| Synonyms |
Erb1p |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
IGL00436
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
76337188-76361449 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76338728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 436
(T436A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023217]
[ENSMUST00000043089]
[ENSMUST00000096385]
|
| AlphaFold |
P97452 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023217
AA Change: T436A
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000023217
Gene: ENSMUSG00000022557
AA Change: T436A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
117 |
N/A |
INTRINSIC |
|
BOP1NT
|
130 |
388 |
1.38e-177 |
SMART |
|
WD40
|
388 |
427 |
1.16e-9 |
SMART |
|
WD40
|
430 |
469 |
6.16e0 |
SMART |
|
WD40
|
508 |
551 |
7.1e1 |
SMART |
|
WD40
|
554 |
592 |
4.46e-1 |
SMART |
|
WD40
|
595 |
634 |
2.76e-2 |
SMART |
|
WD40
|
638 |
677 |
4.14e-6 |
SMART |
|
WD40
|
689 |
732 |
3.14e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043089
|
| SMART Domains |
Protein: ENSMUSP00000043668
Gene: ENSMUSG00000034161
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
80 |
N/A |
INTRINSIC |
|
HLH
|
84 |
136 |
1.46e-16 |
SMART |
|
low complexity region
|
161 |
171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096385
|
| SMART Domains |
Protein: ENSMUSP00000094115
Gene: ENSMUSG00000022558
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
442 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
594 |
607 |
N/A |
INTRINSIC |
|
low complexity region
|
799 |
810 |
N/A |
INTRINSIC |
|
low complexity region
|
935 |
946 |
N/A |
INTRINSIC |
|
low complexity region
|
1191 |
1202 |
N/A |
INTRINSIC |
|
low complexity region
|
1355 |
1367 |
N/A |
INTRINSIC |
|
low complexity region
|
1488 |
1502 |
N/A |
INTRINSIC |
|
Pfam:HEAT
|
1610 |
1640 |
2.2e-5 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160525
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160806
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160986
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161265
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161352
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161350
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229897
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229271
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229132
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229633
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530083I20Rik |
T |
A |
9: 122,725,197 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
G |
T |
12: 118,000,194 (GRCm39) |
T2277K |
possibly damaging |
Het |
| F13b |
A |
T |
1: 139,438,325 (GRCm39) |
E313D |
probably benign |
Het |
| Fsd1 |
T |
C |
17: 56,300,943 (GRCm39) |
|
probably null |
Het |
| Gm14326 |
T |
C |
2: 177,587,491 (GRCm39) |
K502E |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,486,259 (GRCm39) |
N1385D |
probably damaging |
Het |
| Pdc |
T |
C |
1: 150,209,006 (GRCm39) |
V163A |
probably damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,570,091 (GRCm39) |
S873P |
probably benign |
Het |
| Spsb4 |
T |
A |
9: 96,826,646 (GRCm39) |
Y269F |
probably benign |
Het |
| Sult6b2 |
T |
G |
6: 142,743,563 (GRCm39) |
|
probably benign |
Het |
| Tfpi2 |
A |
G |
6: 3,965,407 (GRCm39) |
V17A |
probably benign |
Het |
|
| Other mutations in Bop1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01085:Bop1
|
APN |
15 |
76,337,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02157:Bop1
|
APN |
15 |
76,339,772 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0332:Bop1
|
UTSW |
15 |
76,340,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2148:Bop1
|
UTSW |
15 |
76,339,487 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3979:Bop1
|
UTSW |
15 |
76,338,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4133:Bop1
|
UTSW |
15 |
76,338,535 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5396:Bop1
|
UTSW |
15 |
76,339,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5434:Bop1
|
UTSW |
15 |
76,339,611 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5666:Bop1
|
UTSW |
15 |
76,338,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5820:Bop1
|
UTSW |
15 |
76,339,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5883:Bop1
|
UTSW |
15 |
76,339,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5907:Bop1
|
UTSW |
15 |
76,340,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6807:Bop1
|
UTSW |
15 |
76,339,183 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6947:Bop1
|
UTSW |
15 |
76,338,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7232:Bop1
|
UTSW |
15 |
76,337,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7395:Bop1
|
UTSW |
15 |
76,338,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7477:Bop1
|
UTSW |
15 |
76,339,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7725:Bop1
|
UTSW |
15 |
76,339,583 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7792:Bop1
|
UTSW |
15 |
76,338,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8887:Bop1
|
UTSW |
15 |
76,338,524 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9292:Bop1
|
UTSW |
15 |
76,351,031 (GRCm39) |
missense |
probably benign |
|
|
R9487:Bop1
|
UTSW |
15 |
76,338,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9601:Bop1
|
UTSW |
15 |
76,338,688 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9781:Bop1
|
UTSW |
15 |
76,338,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation