Incidental Mutation 'IGL02225:Zbed5'
| ID |
285319 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zbed5
|
| Ensembl Gene |
ENSMUSG00000034173 |
| Gene Name |
zinc finger BED-type containing 5 |
| Synonyms |
2410018M08Rik, Chchd2l, Zbed5 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02225
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
129924564-129932464 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 129930974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041466]
[ENSMUST00000077320]
[ENSMUST00000140667]
|
| AlphaFold |
B2RPU8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041466
AA Change: R308*
|
| SMART Domains |
Protein: ENSMUSP00000044533
Gene: ENSMUSG00000034173
AA Change: R308*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
75 |
N/A |
INTRINSIC |
|
Pfam:DUF4371
|
281 |
412 |
1.6e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077320
|
| SMART Domains |
Protein: ENSMUSP00000116455
Gene: ENSMUSG00000034173
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
54 |
N/A |
INTRINSIC |
|
Pfam:CHCH
|
95 |
128 |
2.1e-9 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000140667
|
| SMART Domains |
Protein: ENSMUSP00000117510
Gene: ENSMUSG00000025537
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
20 |
143 |
4.1e-9 |
PFAM |
|
Pfam:Pkinase
|
20 |
144 |
3.2e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202430
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is unusual in that its coding sequence is mostly derived from Charlie-like DNA transposon; however, it does not appear to be an active DNA transposon as it is not flanked by terminal inverted repeats. The encoded protein is conserved among the mammalian Laurasiatheria branch. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
A |
G |
7: 43,906,165 (GRCm39) |
|
probably null |
Het |
| Adgrf4 |
C |
A |
17: 42,974,269 (GRCm39) |
|
probably null |
Het |
| Aqp9 |
A |
T |
9: 71,037,829 (GRCm39) |
|
probably benign |
Het |
| C1s1 |
A |
G |
6: 124,518,293 (GRCm39) |
W8R |
probably benign |
Het |
| Cep43 |
T |
G |
17: 8,401,251 (GRCm39) |
D257E |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,800,616 (GRCm39) |
I345T |
probably benign |
Het |
| Cwh43 |
T |
C |
5: 73,578,910 (GRCm39) |
Y306H |
probably damaging |
Het |
| Cyp4a32 |
A |
T |
4: 115,467,700 (GRCm39) |
H228L |
probably benign |
Het |
| Ddx24 |
A |
G |
12: 103,383,630 (GRCm39) |
L607P |
probably damaging |
Het |
| Dlg3 |
A |
G |
X: 99,850,794 (GRCm39) |
K232R |
probably benign |
Het |
| Fig4 |
A |
G |
10: 41,132,448 (GRCm39) |
S453P |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,858,743 (GRCm39) |
L1556P |
probably damaging |
Het |
| Gjb2 |
T |
C |
14: 57,337,645 (GRCm39) |
K188E |
probably damaging |
Het |
| Gp1bb |
C |
A |
16: 18,439,650 (GRCm39) |
W148L |
possibly damaging |
Het |
| Grip1 |
C |
T |
10: 119,885,358 (GRCm39) |
T375M |
probably damaging |
Het |
| Hnf1b |
T |
C |
11: 83,752,611 (GRCm39) |
L82P |
probably damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,262,200 (GRCm39) |
V333A |
probably damaging |
Het |
| Magi1 |
G |
T |
6: 93,671,007 (GRCm39) |
R1069S |
probably damaging |
Het |
| Myh15 |
A |
T |
16: 48,911,526 (GRCm39) |
E319D |
probably benign |
Het |
| Myl4 |
A |
G |
11: 104,471,228 (GRCm39) |
I42V |
probably benign |
Het |
| Obsl1 |
A |
T |
1: 75,480,442 (GRCm39) |
V394E |
probably damaging |
Het |
| Or1e1c |
T |
A |
11: 73,265,904 (GRCm39) |
F110I |
probably damaging |
Het |
| Or52ab7 |
A |
T |
7: 102,978,373 (GRCm39) |
I227F |
probably damaging |
Het |
| Or5w14 |
C |
T |
2: 87,541,743 (GRCm39) |
C169Y |
possibly damaging |
Het |
| Pcnt |
C |
T |
10: 76,225,308 (GRCm39) |
R1732K |
probably benign |
Het |
| Pkd1l3 |
T |
C |
8: 110,365,310 (GRCm39) |
Y1144H |
probably damaging |
Het |
| Pogz |
A |
G |
3: 94,786,327 (GRCm39) |
K972E |
probably damaging |
Het |
| Sccpdh |
A |
G |
1: 179,507,264 (GRCm39) |
T227A |
probably benign |
Het |
| Sec16b |
A |
G |
1: 157,359,614 (GRCm39) |
|
probably benign |
Het |
| Slain2 |
T |
A |
5: 73,098,733 (GRCm39) |
V163E |
probably damaging |
Het |
| Snx1 |
G |
A |
9: 66,016,903 (GRCm39) |
P56L |
probably benign |
Het |
| Snx14 |
G |
A |
9: 88,295,577 (GRCm39) |
T196I |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,461,268 (GRCm39) |
F3570L |
probably benign |
Het |
| Tbrg4 |
C |
A |
11: 6,574,094 (GRCm39) |
V43F |
probably damaging |
Het |
| Traf3ip3 |
A |
G |
1: 192,877,408 (GRCm39) |
I176T |
probably benign |
Het |
| Trbv20 |
T |
A |
6: 41,165,241 (GRCm39) |
|
probably benign |
Het |
| Ubc |
A |
T |
5: 125,463,197 (GRCm39) |
V710D |
probably benign |
Het |
| Ugt2b35 |
T |
C |
5: 87,155,264 (GRCm39) |
|
probably benign |
Het |
| Zc3hav1 |
T |
C |
6: 38,317,276 (GRCm39) |
Y108C |
probably damaging |
Het |
|
| Other mutations in Zbed5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03334:Zbed5
|
APN |
5 |
129,931,196 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0449:Zbed5
|
UTSW |
5 |
129,930,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0744:Zbed5
|
UTSW |
5 |
129,931,113 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0763:Zbed5
|
UTSW |
5 |
129,931,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1967:Zbed5
|
UTSW |
5 |
129,930,510 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2246:Zbed5
|
UTSW |
5 |
129,931,592 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2925:Zbed5
|
UTSW |
5 |
129,932,039 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3053:Zbed5
|
UTSW |
5 |
129,930,987 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3701:Zbed5
|
UTSW |
5 |
129,932,000 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3702:Zbed5
|
UTSW |
5 |
129,932,000 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3916:Zbed5
|
UTSW |
5 |
129,931,118 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3917:Zbed5
|
UTSW |
5 |
129,931,118 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4547:Zbed5
|
UTSW |
5 |
129,931,692 (GRCm39) |
nonsense |
probably null |
|
|
R4548:Zbed5
|
UTSW |
5 |
129,931,692 (GRCm39) |
nonsense |
probably null |
|
|
R5195:Zbed5
|
UTSW |
5 |
129,931,019 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5500:Zbed5
|
UTSW |
5 |
129,930,823 (GRCm39) |
nonsense |
probably null |
|
|
R5813:Zbed5
|
UTSW |
5 |
129,931,059 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6377:Zbed5
|
UTSW |
5 |
129,932,210 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6620:Zbed5
|
UTSW |
5 |
129,932,130 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6862:Zbed5
|
UTSW |
5 |
129,932,026 (GRCm39) |
missense |
probably benign |
|
|
R6931:Zbed5
|
UTSW |
5 |
129,932,170 (GRCm39) |
nonsense |
probably null |
|
|
R7223:Zbed5
|
UTSW |
5 |
129,929,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7831:Zbed5
|
UTSW |
5 |
129,930,798 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7918:Zbed5
|
UTSW |
5 |
129,930,504 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7982:Zbed5
|
UTSW |
5 |
129,929,321 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Posted On |
2015-04-16 |
Incidental Mutation