Incidental Mutation 'R8215:Zbed6'
| ID |
636344 |
| 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 |
067657-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
R8215 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
133547678-133589056 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 133586530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 269
(A269E)
|
| 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 damaging
Transcript: ENSMUST00000179598
AA Change: A269E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136026
Gene: ENSMUSG00000094410
AA Change: A269E
| 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: A269E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139417
Gene: ENSMUSG00000094410
AA Change: A269E
| 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: A269E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140892
Gene: ENSMUSG00000102049
AA Change: A269E
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 93.8%
|
| Validation Efficiency |
100% (59/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
G |
T |
15: 81,949,301 (GRCm39) |
R1066L |
probably benign |
Het |
| Abca14 |
A |
C |
7: 119,893,425 (GRCm39) |
I1292L |
probably benign |
Het |
| Adam34l |
T |
A |
8: 44,079,538 (GRCm39) |
T229S |
probably benign |
Het |
| Adamtsl1 |
T |
G |
4: 86,261,382 (GRCm39) |
F1206V |
probably benign |
Het |
| Agl |
T |
C |
3: 116,582,293 (GRCm39) |
H243R |
probably damaging |
Het |
| Btn2a2 |
A |
C |
13: 23,666,040 (GRCm39) |
L264R |
probably damaging |
Het |
| Ccdc33 |
A |
T |
9: 57,939,995 (GRCm39) |
S749T |
probably benign |
Het |
| Cd55b |
CTTTT |
CTTTTT |
1: 130,347,337 (GRCm39) |
|
probably null |
Het |
| Cdh8 |
A |
G |
8: 99,757,498 (GRCm39) |
I700T |
possibly damaging |
Het |
| Cfap65 |
A |
G |
1: 74,949,902 (GRCm39) |
L1201P |
probably damaging |
Het |
| Chsy3 |
C |
T |
18: 59,308,941 (GRCm39) |
Q65* |
probably null |
Het |
| Clic5 |
T |
A |
17: 44,586,228 (GRCm39) |
L239* |
probably null |
Het |
| Corin |
T |
C |
5: 72,462,361 (GRCm39) |
D957G |
probably damaging |
Het |
| Cped1 |
A |
T |
6: 22,132,277 (GRCm39) |
Y486F |
probably damaging |
Het |
| Csnk1g3 |
C |
T |
18: 54,081,151 (GRCm39) |
T374M |
probably benign |
Het |
| D930020B18Rik |
T |
A |
10: 121,503,429 (GRCm39) |
C201* |
probably null |
Het |
| Dnah2 |
A |
G |
11: 69,326,193 (GRCm39) |
F3653L |
probably damaging |
Het |
| F11r |
GGTGTG |
GGTGTGTG |
1: 171,290,656 (GRCm39) |
|
probably null |
Het |
| Foxj3 |
T |
G |
4: 119,478,808 (GRCm39) |
S455R |
unknown |
Het |
| Gcnt3 |
T |
C |
9: 69,941,455 (GRCm39) |
D371G |
probably damaging |
Het |
| Gm10837 |
A |
G |
14: 122,728,193 (GRCm39) |
E23G |
unknown |
Het |
| Hivep3 |
T |
C |
4: 119,980,098 (GRCm39) |
V1712A |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hoxa2 |
A |
G |
6: 52,140,041 (GRCm39) |
V315A |
probably damaging |
Het |
| Irx5 |
A |
T |
8: 93,086,241 (GRCm39) |
Y108F |
possibly damaging |
Het |
| Itsn1 |
T |
C |
16: 91,608,996 (GRCm39) |
I248T |
probably damaging |
Het |
| Kcnb1 |
T |
C |
2: 166,946,361 (GRCm39) |
K829R |
probably benign |
Het |
| Klhl17 |
A |
G |
4: 156,314,510 (GRCm39) |
V635A |
unknown |
Het |
| Krr1 |
C |
T |
10: 111,815,834 (GRCm39) |
R234* |
probably null |
Het |
| Lrrc7 |
A |
T |
3: 157,915,387 (GRCm39) |
D209E |
probably benign |
Het |
| Mcm2 |
T |
C |
6: 88,874,293 (GRCm39) |
E71G |
probably damaging |
Het |
| Mroh5 |
C |
A |
15: 73,691,139 (GRCm39) |
K10N |
probably damaging |
Het |
| Myh3 |
A |
G |
11: 66,992,005 (GRCm39) |
E1850G |
probably damaging |
Het |
| Nedd9 |
T |
C |
13: 41,492,319 (GRCm39) |
I64V |
probably benign |
Het |
| Nisch |
A |
G |
14: 30,908,658 (GRCm39) |
S456P |
possibly damaging |
Het |
| Nrcam |
T |
C |
12: 44,610,896 (GRCm39) |
V532A |
probably benign |
Het |
| Or51k1 |
T |
C |
7: 103,661,330 (GRCm39) |
D193G |
possibly damaging |
Het |
| Or5p51 |
T |
G |
7: 107,444,124 (GRCm39) |
D272A |
probably damaging |
Het |
| Or7g32 |
T |
C |
9: 19,408,796 (GRCm39) |
F251L |
probably damaging |
Het |
| Or8k17 |
C |
T |
2: 86,066,862 (GRCm39) |
V106M |
probably benign |
Het |
| Plekhg1 |
C |
T |
10: 3,907,521 (GRCm39) |
P868S |
|
Het |
| Ptf1a |
A |
G |
2: 19,450,760 (GRCm39) |
Q30R |
possibly damaging |
Het |
| Ptgs1 |
G |
T |
2: 36,141,179 (GRCm39) |
C542F |
probably damaging |
Het |
| Rere |
T |
A |
4: 150,701,424 (GRCm39) |
M1268K |
possibly damaging |
Het |
| Rp1 |
A |
G |
1: 4,315,318 (GRCm39) |
F485L |
unknown |
Het |
| Samd14 |
A |
T |
11: 94,905,213 (GRCm39) |
E8D |
probably benign |
Het |
| Serpinh1 |
A |
G |
7: 98,995,545 (GRCm39) |
Y346H |
possibly damaging |
Het |
| Shq1 |
A |
T |
6: 100,648,021 (GRCm39) |
M1K |
probably null |
Het |
| Tfrc |
T |
C |
16: 32,443,848 (GRCm39) |
S551P |
probably damaging |
Het |
| Tnr |
A |
C |
1: 159,715,860 (GRCm39) |
N874T |
possibly damaging |
Het |
| Trak1 |
C |
A |
9: 121,298,096 (GRCm39) |
T667N |
probably damaging |
Het |
| Trpv2 |
A |
C |
11: 62,481,757 (GRCm39) |
T423P |
probably damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Vmn2r24 |
A |
G |
6: 123,756,077 (GRCm39) |
T50A |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,346,853 (GRCm39) |
D3031E |
probably benign |
Het |
| Zbtb4 |
A |
C |
11: 69,669,598 (GRCm39) |
I774L |
probably benign |
Het |
| Zbtb47 |
T |
C |
9: 121,596,344 (GRCm39) |
S604P |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,677,349 (GRCm39) |
T2800A |
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 |
|
R7511:Zbed6
|
UTSW |
1 |
133,586,981 (GRCm39) |
missense |
probably benign |
0.30 |
|
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'- AGCACCACTGTCTTTGTTGGC -3'
(R):5'- ATGGGGAGGAGGACTTTACC -3'
Sequencing Primer
(F):5'- AGTTCCTAAGTGGGAACC -3'
(R):5'- CTTCTCCTGGAAGCAATGGAAGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation