Incidental Mutation 'R1164:Zbed6'
| ID |
100753 |
| 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 |
039237-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.252)
|
| Stock # |
R1164 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
133547678-133589056 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 133586941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 132
(T132I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140892
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027736]
[ENSMUST00000179598]
[ENSMUST00000186476]
[ENSMUST00000190574]
[ENSMUST00000191896]
[ENSMUST00000193504]
[ENSMUST00000194668]
[ENSMUST00000195424]
[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: T132I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136026
Gene: ENSMUSG00000094410
AA Change: T132I
| 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: T132I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139417
Gene: ENSMUSG00000094410
AA Change: T132I
| 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: T132I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140892
Gene: ENSMUSG00000102049
AA Change: T132I
| 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: 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: 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
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,621,305 (GRCm39) |
M1055K |
probably damaging |
Het |
| Adprh |
A |
T |
16: 38,270,702 (GRCm39) |
D34E |
probably benign |
Het |
| Aldh1a1 |
A |
T |
19: 20,595,310 (GRCm39) |
M80L |
probably benign |
Het |
| Arap2 |
T |
A |
5: 62,840,820 (GRCm39) |
D682V |
probably damaging |
Het |
| Atp4a |
T |
A |
7: 30,417,117 (GRCm39) |
L500Q |
probably benign |
Het |
| Atp6v1c2 |
T |
C |
12: 17,358,317 (GRCm39) |
E10G |
probably damaging |
Het |
| B4galt2 |
G |
A |
4: 117,734,141 (GRCm39) |
R299W |
possibly damaging |
Het |
| Bltp3a |
T |
C |
17: 28,114,354 (GRCm39) |
|
probably null |
Het |
| Brinp1 |
A |
C |
4: 68,716,928 (GRCm39) |
S307A |
probably benign |
Het |
| Cacna2d1 |
G |
A |
5: 16,566,874 (GRCm39) |
|
probably null |
Het |
| Ccdc3 |
T |
C |
2: 5,146,077 (GRCm39) |
V137A |
possibly damaging |
Het |
| Ccnb1ip1 |
T |
C |
14: 51,029,594 (GRCm39) |
K156R |
possibly damaging |
Het |
| Cfap77 |
A |
T |
2: 28,852,700 (GRCm39) |
W191R |
probably damaging |
Het |
| Chga |
A |
G |
12: 102,529,304 (GRCm39) |
E427G |
probably damaging |
Het |
| Chrnd |
A |
T |
1: 87,120,267 (GRCm39) |
Y32F |
probably benign |
Het |
| Cks1b |
C |
A |
3: 89,323,249 (GRCm39) |
|
probably benign |
Het |
| Creld2 |
G |
A |
15: 88,704,834 (GRCm39) |
W103* |
probably null |
Het |
| Dip2a |
C |
A |
10: 76,112,231 (GRCm39) |
R1098L |
possibly damaging |
Het |
| Dmbx1 |
T |
A |
4: 115,775,455 (GRCm39) |
H275L |
probably damaging |
Het |
| Dmrt2 |
A |
G |
19: 25,655,357 (GRCm39) |
M319V |
possibly damaging |
Het |
| Dock8 |
A |
G |
19: 25,067,391 (GRCm39) |
Y345C |
probably benign |
Het |
| Dpp6 |
A |
G |
5: 27,926,103 (GRCm39) |
T668A |
probably benign |
Het |
| Eef1d |
A |
G |
15: 75,774,526 (GRCm39) |
|
probably null |
Het |
| Epb41l3 |
A |
G |
17: 69,581,762 (GRCm39) |
T568A |
possibly damaging |
Het |
| Erc2 |
A |
G |
14: 28,024,929 (GRCm39) |
R603G |
probably damaging |
Het |
| Fam83d |
T |
C |
2: 158,625,170 (GRCm39) |
S254P |
probably damaging |
Het |
| Fcgr4 |
A |
T |
1: 170,856,739 (GRCm39) |
H202L |
possibly damaging |
Het |
| Gm4922 |
C |
T |
10: 18,659,469 (GRCm39) |
A418T |
possibly damaging |
Het |
| Kmo |
A |
G |
1: 175,486,125 (GRCm39) |
H416R |
probably benign |
Het |
| Lao1 |
A |
G |
4: 118,822,602 (GRCm39) |
N174S |
probably benign |
Het |
| Lrwd1 |
A |
T |
5: 136,159,844 (GRCm39) |
H406Q |
probably benign |
Het |
| Magoh |
A |
G |
4: 107,744,459 (GRCm39) |
I143V |
probably benign |
Het |
| Mpz |
A |
G |
1: 170,986,008 (GRCm39) |
H49R |
possibly damaging |
Het |
| Nav1 |
T |
C |
1: 135,400,148 (GRCm39) |
N474S |
probably benign |
Het |
| Ndufb10 |
T |
G |
17: 24,941,757 (GRCm39) |
E68D |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,926,913 (GRCm39) |
D5534G |
possibly damaging |
Het |
| Or13c7d |
T |
C |
4: 43,770,991 (GRCm39) |
T7A |
probably benign |
Het |
| Or14j5 |
T |
A |
17: 38,161,575 (GRCm39) |
F31I |
probably damaging |
Het |
| Or1j16 |
A |
T |
2: 36,530,132 (GRCm39) |
Y27F |
probably benign |
Het |
| Or4d10 |
A |
T |
19: 12,051,605 (GRCm39) |
Y130* |
probably null |
Het |
| Or52l1 |
A |
T |
7: 104,830,040 (GRCm39) |
F160Y |
probably benign |
Het |
| Or8k30 |
C |
A |
2: 86,339,028 (GRCm39) |
T75K |
probably damaging |
Het |
| Padi1 |
A |
T |
4: 140,559,640 (GRCm39) |
V79E |
possibly damaging |
Het |
| Pdha2 |
A |
G |
3: 140,917,260 (GRCm39) |
Y83H |
probably damaging |
Het |
| Phpt1 |
A |
G |
2: 25,464,727 (GRCm39) |
I42T |
probably damaging |
Het |
| Pot1b |
A |
C |
17: 55,981,085 (GRCm39) |
S310A |
probably benign |
Het |
| Ptpn13 |
G |
A |
5: 103,637,639 (GRCm39) |
V176I |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,114,689 (GRCm39) |
S189P |
probably damaging |
Het |
| Rere |
A |
T |
4: 150,619,341 (GRCm39) |
Q381L |
unknown |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Scn8a |
G |
A |
15: 100,938,043 (GRCm39) |
C1804Y |
probably benign |
Het |
| Sema3c |
G |
A |
5: 17,883,312 (GRCm39) |
D307N |
probably benign |
Het |
| Siah2 |
T |
C |
3: 58,583,737 (GRCm39) |
E183G |
probably benign |
Het |
| Smarca5 |
G |
A |
8: 81,437,260 (GRCm39) |
L699F |
probably damaging |
Het |
| Smo |
T |
A |
6: 29,754,718 (GRCm39) |
S263T |
probably benign |
Het |
| Sox2 |
A |
G |
3: 34,704,848 (GRCm39) |
E95G |
probably damaging |
Het |
| T |
T |
C |
17: 8,658,771 (GRCm39) |
S171P |
probably benign |
Het |
| Tmc7 |
G |
T |
7: 118,141,247 (GRCm39) |
A628D |
probably benign |
Het |
| Tmem45a2 |
A |
G |
16: 56,869,789 (GRCm39) |
S52P |
probably damaging |
Het |
| Tubb3 |
C |
T |
8: 124,148,186 (GRCm39) |
A373V |
probably damaging |
Het |
| Upp2 |
A |
G |
2: 58,653,716 (GRCm39) |
Y69C |
probably damaging |
Het |
| Utp4 |
A |
G |
8: 107,627,476 (GRCm39) |
|
probably null |
Het |
| Vmn1r59 |
T |
A |
7: 5,457,410 (GRCm39) |
M117L |
probably benign |
Het |
| Xkr8 |
T |
C |
4: 132,459,722 (GRCm39) |
S19G |
probably benign |
Het |
| Zbtb24 |
T |
C |
10: 41,340,523 (GRCm39) |
Y518H |
probably damaging |
Het |
| Zfp324 |
T |
C |
7: 12,705,551 (GRCm39) |
I580T |
probably benign |
Het |
| Zfp995 |
G |
A |
17: 22,098,960 (GRCm39) |
H425Y |
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 |
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation