Incidental Mutation 'IGL01085:Bop1'
ID |
52783 |
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 # |
IGL01085
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
76337188-76361449 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76337576 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 683
(D683G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023217
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023217]
[ENSMUST00000043089]
[ENSMUST00000096385]
|
AlphaFold |
P97452 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023217
AA Change: D683G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023217 Gene: ENSMUSG00000022557 AA Change: D683G
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: ENSMUST00000161683
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161352
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229897
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229271
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229633
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229132
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadac |
A |
G |
3: 59,944,763 (GRCm39) |
|
probably benign |
Het |
Acp7 |
T |
C |
7: 28,310,478 (GRCm39) |
Y453C |
probably damaging |
Het |
Cacna1b |
G |
T |
2: 24,569,006 (GRCm39) |
R974S |
probably damaging |
Het |
Ceacam23 |
A |
T |
7: 17,649,616 (GRCm39) |
H729L |
possibly damaging |
Het |
Cenpt |
T |
C |
8: 106,573,297 (GRCm39) |
E350G |
possibly damaging |
Het |
Cep112 |
G |
T |
11: 108,377,432 (GRCm39) |
R270L |
probably damaging |
Het |
Crem |
T |
C |
18: 3,299,236 (GRCm39) |
T26A |
probably damaging |
Het |
Crot |
T |
C |
5: 9,023,955 (GRCm39) |
H387R |
probably damaging |
Het |
Fdxr |
A |
T |
11: 115,160,402 (GRCm39) |
V351E |
probably benign |
Het |
Fkbpl |
T |
C |
17: 34,864,718 (GRCm39) |
L162P |
probably damaging |
Het |
Fmn2 |
T |
A |
1: 174,523,220 (GRCm39) |
N1358K |
probably damaging |
Het |
Hectd4 |
G |
T |
5: 121,469,764 (GRCm39) |
G2553V |
probably damaging |
Het |
Ifna16 |
A |
T |
4: 88,594,969 (GRCm39) |
I42K |
probably benign |
Het |
Igfals |
C |
T |
17: 25,100,634 (GRCm39) |
T575I |
probably benign |
Het |
Il6 |
G |
T |
5: 30,218,487 (GRCm39) |
V28F |
probably damaging |
Het |
Irx1 |
A |
G |
13: 72,107,816 (GRCm39) |
S289P |
probably benign |
Het |
Ncoa2 |
T |
C |
1: 13,219,303 (GRCm39) |
T1245A |
possibly damaging |
Het |
Nr3c2 |
G |
T |
8: 77,634,983 (GRCm39) |
R28L |
probably benign |
Het |
Nudt5 |
G |
A |
2: 5,869,238 (GRCm39) |
V155I |
probably benign |
Het |
Or9s13 |
G |
T |
1: 92,547,921 (GRCm39) |
V98F |
possibly damaging |
Het |
Pcm1 |
T |
C |
8: 41,762,640 (GRCm39) |
S1395P |
probably damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,426,148 (GRCm39) |
|
probably null |
Het |
Prodh |
A |
T |
16: 17,894,208 (GRCm39) |
V339E |
probably damaging |
Het |
Rbm48 |
C |
T |
5: 3,634,762 (GRCm39) |
V401M |
probably benign |
Het |
Retreg3 |
G |
A |
11: 100,991,751 (GRCm39) |
Q61* |
probably null |
Het |
Rif1 |
A |
G |
2: 51,975,152 (GRCm39) |
M354V |
possibly damaging |
Het |
Rrn3 |
G |
A |
16: 13,626,926 (GRCm39) |
V507M |
probably damaging |
Het |
Safb2 |
T |
A |
17: 56,872,242 (GRCm39) |
R197* |
probably null |
Het |
Slc22a26 |
A |
G |
19: 7,767,464 (GRCm39) |
V314A |
probably benign |
Het |
Slfnl1 |
G |
T |
4: 120,390,553 (GRCm39) |
R68L |
probably damaging |
Het |
Spata1 |
G |
T |
3: 146,181,997 (GRCm39) |
Q10K |
possibly damaging |
Het |
Swi5 |
T |
C |
2: 32,170,739 (GRCm39) |
M95V |
possibly damaging |
Het |
Thpo |
T |
C |
16: 20,547,205 (GRCm39) |
D52G |
probably damaging |
Het |
Tmem101 |
A |
T |
11: 102,045,486 (GRCm39) |
L121Q |
probably damaging |
Het |
Trim40 |
T |
C |
17: 37,194,133 (GRCm39) |
I187V |
probably benign |
Het |
Usp33 |
A |
G |
3: 152,074,206 (GRCm39) |
K351E |
possibly damaging |
Het |
Uvrag |
T |
C |
7: 98,767,431 (GRCm39) |
T67A |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,828,077 (GRCm39) |
D2163G |
probably damaging |
Het |
Wnt7a |
C |
T |
6: 91,385,771 (GRCm39) |
V61I |
probably benign |
Het |
Zfp804b |
A |
G |
5: 6,820,931 (GRCm39) |
S675P |
probably damaging |
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 |
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 |
2013-06-21 |