Incidental Mutation 'IGL00157:Zbed6'
ID |
306552 |
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? |
Probably non essential
(E-score: 0.191)
|
Stock # |
IGL00157
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
133547678-133589056 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 133585114 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Aspartic acid
at position 741
(A741D)
|
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 |
probably damaging
Transcript: ENSMUST00000179598
AA Change: A741D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000136026 Gene: ENSMUSG00000094410 AA Change: A741D
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: A741D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139417 Gene: ENSMUSG00000094410 AA Change: A741D
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: A741D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000140892 Gene: ENSMUSG00000102049 AA Change: A741D
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000192775
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192107
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192148
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp4 |
A |
G |
7: 43,902,875 (GRCm39) |
V331A |
possibly damaging |
Het |
Casr |
C |
A |
16: 36,316,172 (GRCm39) |
V633F |
probably damaging |
Het |
Cblb |
T |
G |
16: 52,003,670 (GRCm39) |
V716G |
probably benign |
Het |
Cbln2 |
C |
T |
18: 86,734,509 (GRCm39) |
Q156* |
probably null |
Het |
Cnn1 |
G |
T |
9: 22,010,693 (GRCm39) |
L14F |
possibly damaging |
Het |
D830013O20Rik |
T |
C |
12: 73,411,021 (GRCm39) |
|
noncoding transcript |
Het |
Drd1 |
A |
G |
13: 54,207,897 (GRCm39) |
S99P |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,404,707 (GRCm39) |
V486A |
possibly damaging |
Het |
Galnt7 |
T |
C |
8: 57,993,073 (GRCm39) |
N416S |
probably damaging |
Het |
Gm10735 |
T |
C |
13: 113,178,018 (GRCm39) |
|
probably benign |
Het |
H2-T5 |
A |
T |
17: 36,476,246 (GRCm39) |
|
probably null |
Het |
Jag2 |
T |
C |
12: 112,876,338 (GRCm39) |
T790A |
probably benign |
Het |
Klhdc1 |
T |
A |
12: 69,288,782 (GRCm39) |
Y31N |
possibly damaging |
Het |
Lama1 |
A |
T |
17: 68,122,923 (GRCm39) |
M2769L |
probably benign |
Het |
Mms19 |
A |
G |
19: 41,933,896 (GRCm39) |
|
probably null |
Het |
Msrb2 |
C |
A |
2: 19,399,152 (GRCm39) |
P172T |
probably damaging |
Het |
Or8g35 |
A |
G |
9: 39,381,539 (GRCm39) |
V161A |
probably benign |
Het |
Or8k41 |
T |
C |
2: 86,313,562 (GRCm39) |
S175G |
probably benign |
Het |
Pcdhb9 |
T |
A |
18: 37,536,332 (GRCm39) |
D775E |
possibly damaging |
Het |
Pkhd1 |
T |
C |
1: 20,637,098 (GRCm39) |
|
probably null |
Het |
Preb |
A |
T |
5: 31,113,308 (GRCm39) |
D375E |
probably damaging |
Het |
Prkdc |
T |
C |
16: 15,515,090 (GRCm39) |
I1010T |
probably damaging |
Het |
Rbp2 |
A |
G |
9: 98,380,950 (GRCm39) |
|
probably null |
Het |
Septin9 |
A |
G |
11: 117,243,010 (GRCm39) |
T66A |
probably damaging |
Het |
Serpinb9b |
A |
T |
13: 33,219,608 (GRCm39) |
E178D |
probably benign |
Het |
Shld2 |
A |
G |
14: 33,990,582 (GRCm39) |
V108A |
probably benign |
Het |
Tg |
A |
G |
15: 66,719,015 (GRCm39) |
Y258C |
probably damaging |
Het |
Tmprss7 |
T |
C |
16: 45,483,731 (GRCm39) |
R548G |
probably benign |
Het |
Uba7 |
G |
A |
9: 107,856,310 (GRCm39) |
A536T |
probably benign |
Het |
Vmn2r114 |
G |
A |
17: 23,510,639 (GRCm39) |
P614S |
probably damaging |
Het |
Xpc |
A |
G |
6: 91,469,246 (GRCm39) |
|
probably benign |
Het |
Yrdc |
T |
C |
4: 124,747,754 (GRCm39) |
S86P |
probably damaging |
Het |
|
Other mutations in Zbed6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2015-04-16 |