Incidental Mutation 'R1415:Zbed6'
| ID |
159763 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
039471-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.252)
|
| Stock # |
R1415 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
133547678-133589056 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 133585556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 594
(V594M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140892
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027736]
[ENSMUST00000179598]
[ENSMUST00000186476]
[ENSMUST00000190574]
[ENSMUST00000191896]
[ENSMUST00000195067]
[ENSMUST00000195424]
[ENSMUST00000193504]
[ENSMUST00000194668]
|
| 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: V594M
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000136026
Gene: ENSMUSG00000094410
AA Change: V594M
| 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: V594M
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139417
Gene: ENSMUSG00000094410
AA Change: V594M
| 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: V594M
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140892
Gene: ENSMUSG00000102049
AA Change: V594M
| 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: ENSMUST00000195067
|
| 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 |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.6%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
C |
5: 114,303,982 (GRCm39) |
V135A |
probably benign |
Het |
| Adam21 |
C |
T |
12: 81,606,321 (GRCm39) |
W480* |
probably null |
Het |
| Ccdc71 |
T |
A |
9: 108,340,407 (GRCm39) |
Y73* |
probably null |
Het |
| Cfap44 |
T |
A |
16: 44,301,752 (GRCm39) |
I1830N |
probably damaging |
Het |
| Dnajb11 |
T |
C |
16: 22,689,371 (GRCm39) |
V264A |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,328,777 (GRCm39) |
E1174G |
probably damaging |
Het |
| Fam83e |
G |
A |
7: 45,376,135 (GRCm39) |
E283K |
probably damaging |
Het |
| Gigyf1 |
A |
G |
5: 137,517,478 (GRCm39) |
|
probably null |
Het |
| Letm1 |
A |
T |
5: 33,926,906 (GRCm39) |
N130K |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,519,676 (GRCm39) |
Y137C |
probably damaging |
Het |
| Map3k2 |
A |
G |
18: 32,361,330 (GRCm39) |
I597V |
possibly damaging |
Het |
| Nek1 |
A |
G |
8: 61,542,720 (GRCm39) |
E770G |
probably benign |
Het |
| Or4d2b |
A |
C |
11: 87,780,473 (GRCm39) |
V83G |
possibly damaging |
Het |
| Or52n2b |
A |
G |
7: 104,565,543 (GRCm39) |
I320T |
probably benign |
Het |
| Pank2 |
T |
A |
2: 131,124,638 (GRCm39) |
Y68* |
probably null |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Secisbp2l |
C |
A |
2: 125,582,285 (GRCm39) |
G1057V |
probably benign |
Het |
| Slc30a2 |
C |
T |
4: 134,076,660 (GRCm39) |
T265M |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,688,084 (GRCm39) |
E1239G |
probably null |
Het |
| Snx30 |
C |
T |
4: 59,879,261 (GRCm39) |
R167C |
probably damaging |
Het |
| Tmem26 |
T |
C |
10: 68,614,491 (GRCm39) |
F302S |
possibly damaging |
Het |
| Tpgs2 |
A |
G |
18: 25,301,610 (GRCm39) |
L19S |
probably damaging |
Het |
| Trp53bp1 |
T |
G |
2: 121,066,665 (GRCm39) |
E687A |
probably damaging |
Het |
| Ttc27 |
C |
T |
17: 75,046,667 (GRCm39) |
H243Y |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,763,137 (GRCm39) |
V2318D |
possibly damaging |
Het |
| Wdr59 |
G |
A |
8: 112,225,228 (GRCm39) |
P141S |
probably damaging |
Het |
| Zfp787 |
C |
A |
7: 6,135,694 (GRCm39) |
G186C |
probably 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 |
|
IGL01720:Zbed6
|
APN |
1 |
133,585,264 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGGGCCTGAGTAATACCTCTGAC -3'
(R):5'- TGGACTCATGACCCTTCCACTGAC -3'
Sequencing Primer
(F):5'- GTAAGTACAACTCCACTGGCTCTG -3'
(R):5'- ACACTGGGTCTCTTTGGAAAC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation