Incidental Mutation 'IGL02590:Bok'
| ID |
299723 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bok
|
| Ensembl Gene |
ENSMUSG00000026278 |
| Gene Name |
BCL2-related ovarian killer |
| Synonyms |
mtd, matador |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02590
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
93613382-93623486 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 93614397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144347
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027499]
[ENSMUST00000188394]
[ENSMUST00000201863]
|
| AlphaFold |
O35425 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027499
|
| SMART Domains |
Protein: ENSMUSP00000027499
Gene: ENSMUSG00000026278
| Domain | Start | End | E-Value | Type |
|---|
|
BCL
|
71 |
172 |
6.99e-37 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188394
|
| SMART Domains |
Protein: ENSMUSP00000140412
Gene: ENSMUSG00000026278
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bcl-2
|
71 |
121 |
8.3e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200888
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201863
|
| SMART Domains |
Protein: ENSMUSP00000144347
Gene: ENSMUSG00000026278
| Domain | Start | End | E-Value | Type |
|---|
|
BCL
|
71 |
172 |
6.99e-37 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the BCL2 family, members of which form homo- or heterodimers, and act as anti- or proapoptotic regulators that are involved in a wide variety of cellular processes. Studies in rat show that this protein has restricted expression in reproductive tissues, interacts strongly with some antiapoptotic BCL2 proteins, not at all with proapoptotic BCL2 proteins, and induces apoptosis in transfected cells. Thus, this protein represents a proapoptotic member of the BCL2 family. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit minor increase in spleen and thymus weight in female, but not male, mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
A |
G |
4: 144,184,404 (GRCm39) |
F118S |
probably damaging |
Het |
| Adam5 |
T |
G |
8: 25,234,151 (GRCm39) |
|
probably benign |
Het |
| C1s1 |
C |
T |
6: 124,508,235 (GRCm39) |
V585I |
possibly damaging |
Het |
| Chd2 |
C |
T |
7: 73,102,948 (GRCm39) |
V1346I |
probably benign |
Het |
| Cyb5a |
A |
T |
18: 84,889,732 (GRCm39) |
T54S |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,162,937 (GRCm39) |
T428S |
probably benign |
Het |
| Efhc1 |
T |
C |
1: 21,037,608 (GRCm39) |
Y262H |
probably damaging |
Het |
| Fyb2 |
A |
T |
4: 104,836,250 (GRCm39) |
I404F |
probably damaging |
Het |
| Glra2 |
T |
C |
X: 164,037,222 (GRCm39) |
N237S |
probably benign |
Het |
| Gypc |
A |
G |
18: 32,663,060 (GRCm39) |
*96R |
probably null |
Het |
| Il15 |
T |
C |
8: 83,069,912 (GRCm39) |
I51V |
probably benign |
Het |
| Itgb2 |
T |
C |
10: 77,395,347 (GRCm39) |
C483R |
probably damaging |
Het |
| Kdr |
C |
T |
5: 76,096,983 (GRCm39) |
D1272N |
probably benign |
Het |
| Kif14 |
C |
A |
1: 136,423,742 (GRCm39) |
T969K |
probably benign |
Het |
| Klhl42 |
T |
C |
6: 146,993,810 (GRCm39) |
S261P |
probably damaging |
Het |
| Lrp1 |
C |
A |
10: 127,388,660 (GRCm39) |
G3263V |
probably damaging |
Het |
| Mid1 |
A |
G |
X: 168,710,019 (GRCm39) |
E5G |
probably damaging |
Het |
| Mmrn2 |
T |
A |
14: 34,121,224 (GRCm39) |
L698* |
probably null |
Het |
| Myh14 |
T |
G |
7: 44,273,503 (GRCm39) |
Q1393P |
probably damaging |
Het |
| Ncoa7 |
C |
T |
10: 30,570,159 (GRCm39) |
E267K |
probably damaging |
Het |
| Obox5 |
T |
C |
7: 15,491,517 (GRCm39) |
I19T |
possibly damaging |
Het |
| Or13a20 |
A |
G |
7: 140,232,305 (GRCm39) |
|
probably null |
Het |
| Or8k22 |
A |
G |
2: 86,163,344 (GRCm39) |
S119P |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,041,752 (GRCm39) |
Y2128C |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,136,784 (GRCm39) |
D293G |
probably benign |
Het |
| Prpf4b |
T |
C |
13: 35,072,129 (GRCm39) |
|
probably benign |
Het |
| Psapl1 |
A |
T |
5: 36,362,397 (GRCm39) |
T330S |
probably benign |
Het |
| Rap1gap |
A |
G |
4: 137,447,611 (GRCm39) |
T453A |
probably damaging |
Het |
| Ric1 |
T |
A |
19: 29,544,881 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
A |
G |
16: 72,840,020 (GRCm39) |
E1590G |
probably benign |
Het |
| Sorl1 |
C |
T |
9: 41,957,857 (GRCm39) |
V596I |
probably benign |
Het |
| Tlr12 |
A |
G |
4: 128,511,182 (GRCm39) |
I356T |
probably benign |
Het |
| Trav8d-2 |
T |
C |
14: 53,279,906 (GRCm39) |
S8P |
possibly damaging |
Het |
| Tyms |
C |
A |
5: 30,269,149 (GRCm39) |
V75L |
probably benign |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,172 (GRCm39) |
S120R |
probably damaging |
Het |
| Vmn2r84 |
T |
A |
10: 130,227,356 (GRCm39) |
|
probably benign |
Het |
| Wdr27 |
C |
T |
17: 15,138,041 (GRCm39) |
A388T |
possibly damaging |
Het |
|
| Other mutations in Bok |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0135:Bok
|
UTSW |
1 |
93,614,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0153:Bok
|
UTSW |
1 |
93,614,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0464:Bok
|
UTSW |
1 |
93,621,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0485:Bok
|
UTSW |
1 |
93,616,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Bok
|
UTSW |
1 |
93,614,209 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2177:Bok
|
UTSW |
1 |
93,622,787 (GRCm39) |
nonsense |
probably null |
|
|
R4612:Bok
|
UTSW |
1 |
93,621,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4789:Bok
|
UTSW |
1 |
93,616,963 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7077:Bok
|
UTSW |
1 |
93,616,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7686:Bok
|
UTSW |
1 |
93,622,822 (GRCm39) |
missense |
probably benign |
|
|
R8747:Bok
|
UTSW |
1 |
93,622,664 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9099:Bok
|
UTSW |
1 |
93,622,661 (GRCm39) |
missense |
|
|
|
R9574:Bok
|
UTSW |
1 |
93,616,947 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9712:Bok
|
UTSW |
1 |
93,614,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Bok
|
UTSW |
1 |
93,621,767 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation