Incidental Mutation 'IGL02157:Bop1'
| ID |
282282 |
| 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: 0.936)
|
| Stock # |
IGL02157
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
76337188-76361449 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76339772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 216
(D216G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023217]
[ENSMUST00000043089]
[ENSMUST00000096385]
|
| AlphaFold |
P97452 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023217
AA Change: D216G
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000023217
Gene: ENSMUSG00000022557
AA Change: D216G
| 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: ENSMUST00000161350
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161352
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229897
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229132
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229633
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229271
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,855,487 (GRCm39) |
|
probably benign |
Het |
| Amotl1 |
A |
T |
9: 14,483,011 (GRCm39) |
|
probably benign |
Het |
| Amph |
A |
T |
13: 19,288,401 (GRCm39) |
T297S |
possibly damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,444,263 (GRCm39) |
V198A |
probably damaging |
Het |
| Cdh13 |
T |
C |
8: 119,232,410 (GRCm39) |
I38T |
possibly damaging |
Het |
| Clmn |
T |
C |
12: 104,748,177 (GRCm39) |
T457A |
probably benign |
Het |
| Clstn2 |
A |
C |
9: 97,423,928 (GRCm39) |
M279R |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Fam83h |
A |
T |
15: 75,876,904 (GRCm39) |
V208E |
probably damaging |
Het |
| Fer |
A |
G |
17: 64,445,894 (GRCm39) |
N785S |
probably benign |
Het |
| Fnip1 |
T |
C |
11: 54,378,589 (GRCm39) |
L225P |
probably damaging |
Het |
| Gbp11 |
C |
T |
5: 105,475,374 (GRCm39) |
V325M |
possibly damaging |
Het |
| Glis1 |
A |
G |
4: 107,484,758 (GRCm39) |
T418A |
probably benign |
Het |
| Hook2 |
C |
T |
8: 85,727,779 (GRCm39) |
|
probably benign |
Het |
| Hoxa6 |
C |
A |
6: 52,185,171 (GRCm39) |
C145F |
possibly damaging |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Mbd5 |
T |
C |
2: 49,168,987 (GRCm39) |
V1156A |
probably benign |
Het |
| Mon2 |
G |
A |
10: 122,849,377 (GRCm39) |
P1308S |
probably damaging |
Het |
| Mta2 |
T |
A |
19: 8,924,613 (GRCm39) |
|
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,219,385 (GRCm39) |
L867* |
probably null |
Het |
| Oca2 |
G |
A |
7: 55,974,545 (GRCm39) |
|
probably null |
Het |
| Or13a22 |
T |
A |
7: 140,072,847 (GRCm39) |
C99S |
probably damaging |
Het |
| Or6c88 |
A |
G |
10: 129,407,019 (GRCm39) |
E165G |
probably damaging |
Het |
| Or7e166 |
T |
A |
9: 19,624,585 (GRCm39) |
V154E |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,874,370 (GRCm39) |
|
probably benign |
Het |
| Pramel22 |
A |
T |
4: 143,380,947 (GRCm39) |
C359S |
probably damaging |
Het |
| Rhbdd3 |
T |
C |
11: 5,055,424 (GRCm39) |
|
probably benign |
Het |
| Timeless |
T |
A |
10: 128,078,255 (GRCm39) |
V255E |
probably benign |
Het |
| Tmt1b |
T |
G |
10: 128,796,486 (GRCm39) |
T108P |
possibly damaging |
Het |
| Trh |
A |
T |
6: 92,219,948 (GRCm39) |
S123T |
probably benign |
Het |
| Ugdh |
C |
T |
5: 65,580,035 (GRCm39) |
A252T |
probably damaging |
Het |
| Zfp619 |
A |
G |
7: 39,184,288 (GRCm39) |
Y106C |
probably damaging |
Het |
| Zic5 |
G |
A |
14: 122,696,924 (GRCm39) |
P564S |
unknown |
Het |
|
| Other mutations in Bop1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00436:Bop1
|
APN |
15 |
76,338,728 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01085:Bop1
|
APN |
15 |
76,337,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation