Incidental Mutation 'R0526:Zbed6'
ID |
48889 |
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 |
038719-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.191)
|
Stock # |
R0526 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
133547678-133589056 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 133586472 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 288
(I288M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140892
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027736]
[ENSMUST00000179598]
[ENSMUST00000186476]
[ENSMUST00000190574]
[ENSMUST00000191896]
[ENSMUST00000194668]
[ENSMUST00000195424]
[ENSMUST00000195067]
[ENSMUST00000193504]
|
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 |
probably damaging
Transcript: ENSMUST00000179598
AA Change: I288M
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000136026 Gene: ENSMUSG00000094410 AA Change: I288M
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 |
probably damaging
Transcript: ENSMUST00000186476
AA Change: I288M
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000139417 Gene: ENSMUSG00000094410 AA Change: I288M
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 |
probably damaging
Transcript: ENSMUST00000190574
AA Change: I288M
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140892 Gene: ENSMUSG00000102049 AA Change: I288M
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: ENSMUST00000192107
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191932
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192148
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192775
|
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: 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: ENSMUST00000195067
|
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.0%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013G24Rik |
A |
T |
4: 137,182,535 (GRCm39) |
N230I |
possibly damaging |
Het |
4933427D14Rik |
G |
T |
11: 72,060,609 (GRCm39) |
Q687K |
probably damaging |
Het |
Actrt2 |
A |
G |
4: 154,751,869 (GRCm39) |
L89P |
probably damaging |
Het |
Adamts1 |
A |
C |
16: 85,599,260 (GRCm39) |
S113R |
probably benign |
Het |
Agxt2 |
G |
T |
15: 10,373,948 (GRCm39) |
C118F |
probably damaging |
Het |
Akap8 |
G |
A |
17: 32,536,266 (GRCm39) |
T49I |
probably benign |
Het |
Alk |
A |
T |
17: 72,176,748 (GRCm39) |
W1519R |
probably damaging |
Het |
Atf7ip |
T |
A |
6: 136,536,803 (GRCm39) |
F12Y |
probably damaging |
Het |
Atp13a5 |
A |
G |
16: 29,167,558 (GRCm39) |
C131R |
probably damaging |
Het |
Atp8b4 |
A |
G |
2: 126,269,283 (GRCm39) |
L168P |
probably damaging |
Het |
Blm |
G |
T |
7: 80,155,641 (GRCm39) |
S346* |
probably null |
Het |
Ccnt2 |
T |
G |
1: 127,727,182 (GRCm39) |
C199G |
probably damaging |
Het |
Cd151 |
A |
T |
7: 141,050,504 (GRCm39) |
H219L |
probably damaging |
Het |
Cd200r2 |
A |
T |
16: 44,735,410 (GRCm39) |
R248S |
probably damaging |
Het |
Cdh3 |
A |
G |
8: 107,282,078 (GRCm39) |
D822G |
possibly damaging |
Het |
Clec4b1 |
T |
C |
6: 123,046,729 (GRCm39) |
|
probably null |
Het |
Cluh |
C |
A |
11: 74,556,812 (GRCm39) |
L951I |
probably benign |
Het |
Cog7 |
A |
T |
7: 121,562,494 (GRCm39) |
|
probably null |
Het |
Col25a1 |
C |
A |
3: 130,270,043 (GRCm39) |
P197Q |
probably damaging |
Het |
Csde1 |
T |
A |
3: 102,963,742 (GRCm39) |
S636R |
possibly damaging |
Het |
Ect2l |
C |
A |
10: 18,075,688 (GRCm39) |
C66F |
possibly damaging |
Het |
Elac2 |
T |
C |
11: 64,890,262 (GRCm39) |
M671T |
probably benign |
Het |
Evi5 |
T |
C |
5: 107,969,614 (GRCm39) |
N143S |
probably benign |
Het |
Ext2 |
A |
G |
2: 93,636,430 (GRCm39) |
V228A |
probably damaging |
Het |
Fbxo38 |
A |
G |
18: 62,639,051 (GRCm39) |
Y1084H |
probably damaging |
Het |
Fcgr4 |
T |
A |
1: 170,856,760 (GRCm39) |
L209Q |
probably damaging |
Het |
Fgd3 |
C |
T |
13: 49,450,000 (GRCm39) |
S83N |
probably benign |
Het |
Gigyf2 |
T |
A |
1: 87,349,215 (GRCm39) |
M664K |
probably benign |
Het |
Il27ra |
A |
T |
8: 84,766,128 (GRCm39) |
S219T |
probably benign |
Het |
Itprid2 |
A |
G |
2: 79,487,690 (GRCm39) |
D591G |
probably benign |
Het |
Kif15 |
T |
C |
9: 122,826,862 (GRCm39) |
V800A |
probably damaging |
Het |
Lmo7 |
T |
A |
14: 102,137,996 (GRCm39) |
D666E |
probably damaging |
Het |
Lrp5 |
T |
C |
19: 3,678,295 (GRCm39) |
D520G |
probably damaging |
Het |
Lrriq3 |
T |
A |
3: 154,893,934 (GRCm39) |
M545K |
probably benign |
Het |
Lsm5 |
T |
A |
6: 56,680,310 (GRCm39) |
D44V |
probably damaging |
Het |
Man1c1 |
G |
T |
4: 134,296,379 (GRCm39) |
Y430* |
probably null |
Het |
Map4 |
T |
A |
9: 109,866,346 (GRCm39) |
|
probably null |
Het |
Megf6 |
A |
G |
4: 154,343,398 (GRCm39) |
K561R |
probably benign |
Het |
Myo1e |
T |
C |
9: 70,229,680 (GRCm39) |
Y173H |
probably damaging |
Het |
Myo6 |
T |
A |
9: 80,190,823 (GRCm39) |
S791R |
possibly damaging |
Het |
Nol11 |
C |
A |
11: 107,075,597 (GRCm39) |
E144* |
probably null |
Het |
Ntng2 |
C |
T |
2: 29,087,074 (GRCm39) |
R416Q |
probably damaging |
Het |
Nxpe3 |
T |
A |
16: 55,686,880 (GRCm39) |
I43F |
possibly damaging |
Het |
Or4g17 |
T |
A |
2: 111,209,837 (GRCm39) |
V164E |
possibly damaging |
Het |
Or5t5 |
A |
T |
2: 86,616,691 (GRCm39) |
T206S |
possibly damaging |
Het |
Pkd1l2 |
T |
C |
8: 117,808,999 (GRCm39) |
I64V |
probably damaging |
Het |
Prf1 |
G |
A |
10: 61,136,033 (GRCm39) |
R103H |
probably benign |
Het |
Rest |
A |
G |
5: 77,428,874 (GRCm39) |
D431G |
probably damaging |
Het |
Serpina10 |
A |
T |
12: 103,583,127 (GRCm39) |
L439Q |
probably damaging |
Het |
Sgk3 |
T |
G |
1: 9,951,804 (GRCm39) |
V176G |
probably damaging |
Het |
Slc19a3 |
A |
G |
1: 83,000,454 (GRCm39) |
S188P |
probably damaging |
Het |
Sorbs1 |
A |
G |
19: 40,338,392 (GRCm39) |
I336T |
probably damaging |
Het |
Strip1 |
C |
T |
3: 107,527,355 (GRCm39) |
|
probably null |
Het |
Syt4 |
T |
C |
18: 31,576,799 (GRCm39) |
E185G |
possibly damaging |
Het |
Tcaf3 |
T |
A |
6: 42,566,738 (GRCm39) |
I784F |
probably damaging |
Het |
Tgfbr3l |
G |
T |
8: 4,299,439 (GRCm39) |
R74L |
possibly damaging |
Het |
Thoc7 |
A |
G |
14: 13,949,282 (GRCm38) |
M194T |
probably benign |
Het |
Thsd7b |
T |
C |
1: 129,879,129 (GRCm39) |
Y989H |
probably damaging |
Het |
Tmem156 |
C |
T |
5: 65,233,161 (GRCm39) |
V134I |
probably benign |
Het |
Tnks |
A |
T |
8: 35,320,457 (GRCm39) |
V738E |
probably benign |
Het |
Trpm6 |
A |
T |
19: 18,770,240 (GRCm39) |
I342F |
probably damaging |
Het |
Vmn2r69 |
A |
T |
7: 85,060,711 (GRCm39) |
V291D |
probably damaging |
Het |
Wdr59 |
GGGTGGTG |
GGGTG |
8: 112,207,172 (GRCm39) |
|
probably benign |
Het |
Wnk1 |
T |
C |
6: 119,928,953 (GRCm39) |
T1292A |
probably damaging |
Het |
Yes1 |
T |
A |
5: 32,812,584 (GRCm39) |
C285S |
probably benign |
Het |
Zbtb49 |
T |
C |
5: 38,371,263 (GRCm39) |
N206S |
probably benign |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AATCTTGGCTGCCTGATGACTTCTC -3'
(R):5'- TCCTCCTTCTCCTGGAAGCAATGG -3'
Sequencing Primer
(F):5'- CCAGGCATCGTATCATTCAGGAG -3'
(R):5'- CTGTAGATGAAAACAGAATGGGTAAG -3'
|
Posted On |
2013-06-12 |