Incidental Mutation 'IGL01720:Zbed6'
| ID |
105065 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zbed6
|
| Ensembl Gene |
ENSMUSG00000102049 |
| Gene Name |
zinc finger, BED type containing 6 |
| Synonyms |
Gm38394, similar to Zinc finger BED domain containing protein 4, MGR, Gm8466 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.252)
|
| Stock # |
IGL01720
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
133547678-133589056 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133585264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 691
(V691A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140892
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027736]
[ENSMUST00000179598]
[ENSMUST00000186476]
[ENSMUST00000190574]
[ENSMUST00000191896]
[ENSMUST00000195424]
[ENSMUST00000193504]
[ENSMUST00000194668]
[ENSMUST00000195067]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027736
|
| SMART Domains |
Protein: ENSMUSP00000027736
Gene: ENSMUSG00000116275
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
3 |
28 |
4.26e-1 |
SMART |
|
ZnF_C3H1
|
31 |
56 |
7.62e0 |
SMART |
|
ZnF_C3H1
|
60 |
86 |
6.83e1 |
SMART |
|
low complexity region
|
161 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
625 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
717 |
730 |
N/A |
INTRINSIC |
|
low complexity region
|
770 |
788 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179598
AA Change: V691A
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000136026
Gene: ENSMUSG00000094410
AA Change: V691A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
84 |
N/A |
INTRINSIC |
|
ZnF_BED
|
130 |
183 |
1.42e-8 |
SMART |
|
low complexity region
|
203 |
215 |
N/A |
INTRINSIC |
|
ZnF_BED
|
265 |
318 |
5.37e-9 |
SMART |
|
low complexity region
|
840 |
862 |
N/A |
INTRINSIC |
|
Pfam:Dimer_Tnp_hAT
|
869 |
950 |
9.3e-13 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186476
AA Change: V691A
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139417
Gene: ENSMUSG00000094410
AA Change: V691A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
84 |
N/A |
INTRINSIC |
|
ZnF_BED
|
130 |
183 |
1.42e-8 |
SMART |
|
low complexity region
|
203 |
215 |
N/A |
INTRINSIC |
|
ZnF_BED
|
265 |
318 |
5.37e-9 |
SMART |
|
low complexity region
|
840 |
862 |
N/A |
INTRINSIC |
|
Pfam:Dimer_Tnp_hAT
|
869 |
950 |
1.9e-12 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190574
AA Change: V691A
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140892
Gene: ENSMUSG00000102049
AA Change: V691A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
84 |
N/A |
INTRINSIC |
|
ZnF_BED
|
130 |
183 |
1.42e-8 |
SMART |
|
low complexity region
|
203 |
215 |
N/A |
INTRINSIC |
|
ZnF_BED
|
265 |
318 |
5.37e-9 |
SMART |
|
low complexity region
|
840 |
862 |
N/A |
INTRINSIC |
|
Pfam:Dimer_Tnp_hAT
|
869 |
950 |
1.9e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191705
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191896
|
| SMART Domains |
Protein: ENSMUSP00000141255
Gene: ENSMUSG00000102976
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
3 |
28 |
4.26e-1 |
SMART |
|
ZnF_C3H1
|
31 |
56 |
7.62e0 |
SMART |
|
ZnF_C3H1
|
60 |
86 |
6.83e1 |
SMART |
|
low complexity region
|
161 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
625 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
717 |
730 |
N/A |
INTRINSIC |
|
low complexity region
|
770 |
788 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191932
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192107
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192148
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192775
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195424
|
| SMART Domains |
Protein: ENSMUSP00000142066
Gene: ENSMUSG00000102976
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
3 |
28 |
1.8e-3 |
SMART |
|
ZnF_C3H1
|
31 |
56 |
3.2e-2 |
SMART |
|
ZnF_C3H1
|
60 |
86 |
2.9e-1 |
SMART |
|
low complexity region
|
161 |
176 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193504
|
| SMART Domains |
Protein: ENSMUSP00000141895
Gene: ENSMUSG00000102976
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
3 |
28 |
1.8e-3 |
SMART |
|
ZnF_C3H1
|
31 |
56 |
3.2e-2 |
SMART |
|
Blast:ZnF_C3H1
|
60 |
84 |
2e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194668
|
| SMART Domains |
Protein: ENSMUSP00000141727
Gene: ENSMUSG00000102976
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
3 |
28 |
1.8e-3 |
SMART |
|
ZnF_C3H1
|
31 |
56 |
3.2e-2 |
SMART |
|
ZnF_C3H1
|
60 |
86 |
2.9e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195067
|
| 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 transposon-derived intronless gene is a transcriptional repressor that binds to the consensus sequence 5'-GCTCGC-3'. The encoded protein has been shown to repress IGF2 transcription. This gene is located within the first intron of the ZC3H11A gene. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
G |
A |
6: 85,605,076 (GRCm39) |
R1773Q |
probably benign |
Het |
| Apc2 |
T |
C |
10: 80,150,333 (GRCm39) |
S1796P |
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,658,382 (GRCm39) |
I2131F |
probably damaging |
Het |
| Cdc42bpa |
T |
A |
1: 179,938,847 (GRCm39) |
D833E |
probably damaging |
Het |
| Cenpc1 |
A |
G |
5: 86,193,284 (GRCm39) |
S202P |
possibly damaging |
Het |
| Cenpf |
T |
C |
1: 189,414,583 (GRCm39) |
E178G |
probably benign |
Het |
| Cenpf |
T |
C |
1: 189,383,412 (GRCm39) |
Y2636C |
probably damaging |
Het |
| Cfap251 |
A |
G |
5: 123,460,557 (GRCm39) |
D1173G |
probably benign |
Het |
| Chkb |
C |
T |
15: 89,312,155 (GRCm39) |
|
probably null |
Het |
| Cldn20 |
A |
G |
17: 3,583,375 (GRCm39) |
T183A |
probably benign |
Het |
| Cpne8 |
C |
T |
15: 90,385,703 (GRCm39) |
V442I |
probably benign |
Het |
| Cx3cl1 |
T |
A |
8: 95,504,701 (GRCm39) |
M39K |
probably damaging |
Het |
| Dgkd |
T |
A |
1: 87,864,487 (GRCm39) |
L124Q |
probably damaging |
Het |
| Duxf4 |
A |
C |
10: 58,072,211 (GRCm39) |
M1R |
probably null |
Het |
| Fam180a |
T |
C |
6: 35,290,500 (GRCm39) |
H161R |
probably benign |
Het |
| Galt |
C |
A |
4: 41,757,463 (GRCm39) |
R212S |
probably damaging |
Het |
| Gja10 |
T |
C |
4: 32,601,007 (GRCm39) |
D459G |
probably benign |
Het |
| Glb1 |
T |
C |
9: 114,249,573 (GRCm39) |
|
probably null |
Het |
| Gm5709 |
A |
T |
3: 59,513,975 (GRCm39) |
|
noncoding transcript |
Het |
| Igf2r |
A |
G |
17: 12,920,200 (GRCm39) |
Y1380H |
probably damaging |
Het |
| Jag1 |
C |
T |
2: 136,929,023 (GRCm39) |
G811D |
probably damaging |
Het |
| Lrguk |
T |
C |
6: 34,020,412 (GRCm39) |
F52S |
probably damaging |
Het |
| Lrrc15 |
A |
T |
16: 30,092,138 (GRCm39) |
N400K |
probably benign |
Het |
| Map3k12 |
A |
G |
15: 102,410,621 (GRCm39) |
|
probably benign |
Het |
| Mbnl2 |
C |
T |
14: 120,562,682 (GRCm39) |
T11I |
probably damaging |
Het |
| Mettl22 |
T |
C |
16: 8,302,117 (GRCm39) |
|
probably benign |
Het |
| Mgat4a |
G |
A |
1: 37,483,979 (GRCm39) |
A497V |
probably damaging |
Het |
| Mrpl49 |
C |
A |
19: 6,105,187 (GRCm39) |
M91I |
possibly damaging |
Het |
| Or2ag18 |
A |
T |
7: 106,405,416 (GRCm39) |
D84E |
probably damaging |
Het |
| Or2q1 |
G |
A |
6: 42,794,527 (GRCm39) |
V41I |
probably benign |
Het |
| Pcdhb5 |
T |
G |
18: 37,454,075 (GRCm39) |
S152A |
probably benign |
Het |
| Ppp1r13b |
T |
C |
12: 111,824,694 (GRCm39) |
T102A |
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,423,410 (GRCm39) |
|
probably benign |
Het |
| Prodh2 |
A |
G |
7: 30,210,628 (GRCm39) |
D393G |
probably damaging |
Het |
| Pyroxd1 |
A |
G |
6: 142,296,784 (GRCm39) |
|
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,759,366 (GRCm39) |
C554S |
possibly damaging |
Het |
| Rapgef5 |
T |
C |
12: 117,577,055 (GRCm39) |
|
probably benign |
Het |
| Setdb2 |
A |
G |
14: 59,660,885 (GRCm39) |
V86A |
possibly damaging |
Het |
| Slc38a2 |
A |
T |
15: 96,589,092 (GRCm39) |
|
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,376,132 (GRCm39) |
Y406C |
probably damaging |
Het |
| Slit1 |
T |
C |
19: 41,622,653 (GRCm39) |
D702G |
probably benign |
Het |
| Stat3 |
T |
C |
11: 100,794,484 (GRCm39) |
H275R |
possibly damaging |
Het |
| Susd5 |
T |
A |
9: 113,893,052 (GRCm39) |
N43K |
possibly damaging |
Het |
| Ttc3 |
A |
T |
16: 94,186,228 (GRCm39) |
K124N |
probably damaging |
Het |
| Usp36 |
C |
A |
11: 118,165,828 (GRCm39) |
R165L |
probably damaging |
Het |
| Vwf |
G |
A |
6: 125,619,798 (GRCm39) |
R1492Q |
possibly damaging |
Het |
|
| Other mutations in Zbed6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00157:Zbed6
|
APN |
1 |
133,585,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02320:Zbed6
|
APN |
1 |
133,585,411 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0385:Zbed6
|
UTSW |
1 |
133,584,522 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0417:Zbed6
|
UTSW |
1 |
133,586,276 (GRCm39) |
missense |
probably benign |
|
|
R0526:Zbed6
|
UTSW |
1 |
133,586,472 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0576:Zbed6
|
UTSW |
1 |
133,585,576 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1164:Zbed6
|
UTSW |
1 |
133,586,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1187:Zbed6
|
UTSW |
1 |
133,586,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1415:Zbed6
|
UTSW |
1 |
133,585,556 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1997:Zbed6
|
UTSW |
1 |
133,584,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2186:Zbed6
|
UTSW |
1 |
133,585,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2875:Zbed6
|
UTSW |
1 |
133,584,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2876:Zbed6
|
UTSW |
1 |
133,584,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2975:Zbed6
|
UTSW |
1 |
133,585,975 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4573:Zbed6
|
UTSW |
1 |
133,587,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4631:Zbed6
|
UTSW |
1 |
133,586,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4671:Zbed6
|
UTSW |
1 |
133,584,778 (GRCm39) |
missense |
probably benign |
|
|
R4976:Zbed6
|
UTSW |
1 |
133,585,832 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5048:Zbed6
|
UTSW |
1 |
133,586,462 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5318:Zbed6
|
UTSW |
1 |
133,585,853 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5400:Zbed6
|
UTSW |
1 |
133,585,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5427:Zbed6
|
UTSW |
1 |
133,585,333 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6530:Zbed6
|
UTSW |
1 |
133,586,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7511:Zbed6
|
UTSW |
1 |
133,586,981 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8215:Zbed6
|
UTSW |
1 |
133,586,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8529:Zbed6
|
UTSW |
1 |
133,584,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8685:Zbed6
|
UTSW |
1 |
133,584,754 (GRCm39) |
nonsense |
probably null |
|
|
R9414:Zbed6
|
UTSW |
1 |
133,585,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9429:Zbed6
|
UTSW |
1 |
133,585,453 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Zbed6
|
UTSW |
1 |
133,586,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation