Incidental Mutation 'R7511:Zbed6'
| ID |
582069 |
| 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 |
045584-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
R7511 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
133547678-133589056 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 133586981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 119
(I119L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027736]
[ENSMUST00000179598]
[ENSMUST00000186476]
[ENSMUST00000190574]
[ENSMUST00000191896]
[ENSMUST00000193504]
[ENSMUST00000194668]
[ENSMUST00000195067]
[ENSMUST00000195424]
|
| 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 benign
Transcript: ENSMUST00000179598
AA Change: I119L
PolyPhen 2
Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000136026
Gene: ENSMUSG00000094410
AA Change: I119L
| 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 benign
Transcript: ENSMUST00000186476
AA Change: I119L
PolyPhen 2
Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139417
Gene: ENSMUSG00000094410
AA Change: I119L
| 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 benign
Transcript: ENSMUST00000190574
AA Change: I119L
PolyPhen 2
Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000140892
Gene: ENSMUSG00000102049
AA Change: I119L
| 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 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 |
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
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (65/65) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,189,954 (GRCm39) |
K327E |
probably damaging |
Het |
| Adamts14 |
G |
A |
10: 61,054,307 (GRCm39) |
A572V |
possibly damaging |
Het |
| Add2 |
A |
G |
6: 86,075,597 (GRCm39) |
N249D |
probably benign |
Het |
| Adgrb2 |
A |
T |
4: 129,915,904 (GRCm39) |
M1503L |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,586,407 (GRCm39) |
K421E |
unknown |
Het |
| B3galt5 |
A |
G |
16: 96,116,916 (GRCm39) |
K183R |
possibly damaging |
Het |
| Braf |
T |
C |
6: 39,665,187 (GRCm39) |
I94M |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,294,311 (GRCm39) |
E1158G |
possibly damaging |
Het |
| Ccdc177 |
C |
A |
12: 80,804,457 (GRCm39) |
V606L |
unknown |
Het |
| Ccdc38 |
C |
A |
10: 93,398,662 (GRCm39) |
L147I |
possibly damaging |
Het |
| Ccdc83 |
T |
C |
7: 89,886,130 (GRCm39) |
N210D |
possibly damaging |
Het |
| Cdh20 |
T |
C |
1: 109,925,583 (GRCm39) |
|
probably benign |
Het |
| Coro1b |
T |
A |
19: 4,202,525 (GRCm39) |
Y338N |
probably damaging |
Het |
| Crlf3 |
A |
C |
11: 79,954,812 (GRCm39) |
|
probably null |
Het |
| Crnn |
A |
T |
3: 93,056,723 (GRCm39) |
K503M |
probably damaging |
Het |
| Cul5 |
T |
A |
9: 53,537,269 (GRCm39) |
N521I |
probably damaging |
Het |
| Cyp2c50 |
T |
A |
19: 40,080,634 (GRCm39) |
|
probably null |
Het |
| Dis3 |
T |
C |
14: 99,337,042 (GRCm39) |
H23R |
possibly damaging |
Het |
| Dock7 |
A |
T |
4: 98,949,519 (GRCm39) |
L441H |
|
Het |
| Dock7 |
C |
A |
4: 98,967,992 (GRCm39) |
E162* |
probably null |
Het |
| Dpp9 |
A |
T |
17: 56,512,611 (GRCm39) |
M174K |
possibly damaging |
Het |
| Dtd1 |
A |
G |
2: 144,459,147 (GRCm39) |
D57G |
probably benign |
Het |
| F3 |
A |
G |
3: 121,525,206 (GRCm39) |
E149G |
probably damaging |
Het |
| Glp2r |
C |
T |
11: 67,648,417 (GRCm39) |
R95K |
probably damaging |
Het |
| Gpr107 |
T |
A |
2: 31,068,358 (GRCm39) |
F273L |
probably benign |
Het |
| Gria1 |
A |
T |
11: 57,174,451 (GRCm39) |
I647F |
probably damaging |
Het |
| Heatr5a |
A |
C |
12: 51,926,217 (GRCm39) |
I1878S |
possibly damaging |
Het |
| Hsf2 |
G |
T |
10: 57,380,653 (GRCm39) |
C230F |
probably benign |
Het |
| Igfbp2 |
T |
G |
1: 72,891,164 (GRCm39) |
M254R |
probably damaging |
Het |
| Kifc2 |
C |
A |
15: 76,545,537 (GRCm39) |
Q95K |
possibly damaging |
Het |
| Lnx1 |
T |
G |
5: 74,780,972 (GRCm39) |
N183T |
probably benign |
Het |
| Ltn1 |
G |
T |
16: 87,205,716 (GRCm39) |
T983K |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,367,093 (GRCm39) |
V2556D |
possibly damaging |
Het |
| Map4k3 |
A |
G |
17: 80,905,077 (GRCm39) |
V738A |
possibly damaging |
Het |
| Mtmr12 |
T |
G |
15: 12,265,681 (GRCm39) |
Y466D |
possibly damaging |
Het |
| Musk |
A |
G |
4: 58,333,672 (GRCm39) |
I256V |
probably benign |
Het |
| Ociad1 |
T |
C |
5: 73,452,338 (GRCm39) |
F43S |
probably damaging |
Het |
| Or10g9b |
A |
T |
9: 39,918,229 (GRCm39) |
S5R |
possibly damaging |
Het |
| Or4k5 |
A |
G |
14: 50,385,713 (GRCm39) |
L206P |
probably damaging |
Het |
| Pah |
G |
A |
10: 87,390,249 (GRCm39) |
A132T |
probably damaging |
Het |
| Pak5 |
G |
A |
2: 135,925,244 (GRCm39) |
S686F |
possibly damaging |
Het |
| Pi4kb |
T |
C |
3: 94,896,623 (GRCm39) |
S307P |
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,318,889 (GRCm39) |
T645A |
possibly damaging |
Het |
| Pold1 |
C |
T |
7: 44,191,614 (GRCm39) |
R124K |
possibly damaging |
Het |
| Pramel27 |
T |
A |
4: 143,573,116 (GRCm39) |
I3N |
possibly damaging |
Het |
| Prdm10 |
T |
C |
9: 31,289,777 (GRCm39) |
Y1153H |
probably damaging |
Het |
| Ptk2b |
T |
C |
14: 66,391,693 (GRCm39) |
N947S |
possibly damaging |
Het |
| Rad54b |
A |
G |
4: 11,578,956 (GRCm39) |
|
probably null |
Het |
| S1pr4 |
A |
G |
10: 81,335,623 (GRCm39) |
|
probably benign |
Het |
| Sec23b |
A |
G |
2: 144,432,269 (GRCm39) |
K760E |
probably benign |
Het |
| Sergef |
T |
A |
7: 46,264,170 (GRCm39) |
N239I |
probably damaging |
Het |
| Serpinb9 |
C |
A |
13: 33,192,054 (GRCm39) |
N78K |
probably benign |
Het |
| Sntb1 |
G |
T |
15: 55,511,347 (GRCm39) |
F412L |
possibly damaging |
Het |
| Stradb |
T |
A |
1: 59,032,108 (GRCm39) |
F294L |
probably damaging |
Het |
| Ttll11 |
G |
A |
2: 35,793,046 (GRCm39) |
R266C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,624,882 (GRCm39) |
M15232K |
possibly damaging |
Het |
| Tubgcp2 |
T |
C |
7: 139,584,793 (GRCm39) |
I547M |
probably benign |
Het |
| Vgf |
C |
A |
5: 137,060,245 (GRCm39) |
P136T |
unknown |
Het |
| Vmn1r36 |
T |
A |
6: 66,693,914 (GRCm39) |
|
probably benign |
Het |
| Vmn2r102 |
T |
C |
17: 19,901,405 (GRCm39) |
S511P |
probably damaging |
Het |
| Wdr27 |
C |
T |
17: 15,103,965 (GRCm39) |
V714I |
probably benign |
Het |
| Zfp229 |
A |
G |
17: 21,964,045 (GRCm39) |
S92G |
probably benign |
Het |
| Zfp710 |
C |
T |
7: 79,732,250 (GRCm39) |
Q476* |
probably null |
Het |
| Zfp808 |
A |
G |
13: 62,320,637 (GRCm39) |
N622S |
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 |
|
|
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 |
|
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'- AAGGTAAAGTCCTCCTCCCC -3'
(R):5'- CGAATAAAGAGACAAAATTGCCTGC -3'
Sequencing Primer
(F):5'- AGAATGCCTTGCCTGAAGATGTC -3'
(R):5'- GAGACAAAATTGCCTGCTAAAAAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation