Incidental Mutation 'R1187:Zbed6'
| ID |
102218 |
| 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 |
039259-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
R1187 (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: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 89.2%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
T |
11: 9,478,981 (GRCm39) |
M4276I |
probably benign |
Het |
| Apol7b |
A |
T |
15: 77,307,603 (GRCm39) |
F297L |
possibly damaging |
Het |
| Capsl |
C |
T |
15: 9,457,807 (GRCm39) |
R9W |
probably damaging |
Het |
| Catsperb |
T |
C |
12: 101,591,991 (GRCm39) |
V1107A |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,820,656 (GRCm39) |
N132K |
probably damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,715,504 (GRCm39) |
I544M |
probably benign |
Het |
| Cma2 |
T |
C |
14: 56,210,280 (GRCm39) |
V55A |
probably benign |
Het |
| Col10a1 |
A |
T |
10: 34,270,834 (GRCm39) |
I269F |
probably benign |
Het |
| Col26a1 |
G |
A |
5: 136,773,020 (GRCm39) |
H385Y |
probably damaging |
Het |
| Ctdp1 |
A |
G |
18: 80,492,702 (GRCm39) |
Y598H |
probably damaging |
Het |
| Dnajc1 |
A |
G |
2: 18,289,520 (GRCm39) |
S296P |
probably benign |
Het |
| Dvl2 |
A |
T |
11: 69,896,962 (GRCm39) |
T250S |
probably benign |
Het |
| Etv1 |
A |
G |
12: 38,915,563 (GRCm39) |
Y410C |
probably damaging |
Het |
| Krcc1 |
A |
T |
6: 71,261,612 (GRCm39) |
K215* |
probably null |
Het |
| Lrr1 |
A |
T |
12: 69,221,796 (GRCm39) |
T313S |
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,866,039 (GRCm39) |
E1234V |
probably damaging |
Het |
| Mepe |
G |
A |
5: 104,486,114 (GRCm39) |
R418H |
probably damaging |
Het |
| Myrfl |
G |
A |
10: 116,667,447 (GRCm39) |
T331I |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,233,687 (GRCm39) |
W26R |
probably damaging |
Het |
| Nsrp1 |
G |
A |
11: 76,936,853 (GRCm39) |
P448S |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Olfml2a |
A |
G |
2: 38,849,825 (GRCm39) |
N514D |
probably damaging |
Het |
| Or2l5 |
T |
C |
16: 19,333,796 (GRCm39) |
T197A |
probably benign |
Het |
| Or2y17 |
T |
G |
11: 49,231,417 (GRCm39) |
D19E |
probably damaging |
Het |
| Pcdhb1 |
C |
T |
18: 37,398,597 (GRCm39) |
R183C |
probably damaging |
Het |
| Phf14 |
T |
G |
6: 11,941,495 (GRCm39) |
C41G |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,361,447 (GRCm39) |
V499A |
possibly damaging |
Het |
| Plcb4 |
A |
G |
2: 135,810,314 (GRCm39) |
I638V |
probably benign |
Het |
| Ppp4c |
T |
A |
7: 126,385,372 (GRCm39) |
I296F |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,577,610 (GRCm39) |
V2388A |
probably damaging |
Het |
| Rgl1 |
T |
C |
1: 152,420,184 (GRCm39) |
D353G |
probably benign |
Het |
| Rnf19b |
T |
G |
4: 128,969,360 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
C |
T |
2: 112,788,521 (GRCm39) |
D190N |
probably damaging |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Sema3e |
G |
A |
5: 14,282,098 (GRCm39) |
M411I |
probably damaging |
Het |
| Sgsh |
A |
T |
11: 119,237,404 (GRCm39) |
Y403* |
probably null |
Het |
| Sh2d7 |
T |
A |
9: 54,448,471 (GRCm39) |
L164Q |
probably benign |
Het |
| Slfn8 |
A |
T |
11: 82,894,314 (GRCm39) |
V775E |
probably damaging |
Het |
| Smgc |
G |
A |
15: 91,744,798 (GRCm39) |
G287S |
probably damaging |
Het |
| Soat1 |
T |
A |
1: 156,261,745 (GRCm39) |
Y421F |
probably damaging |
Het |
| Sri |
T |
C |
5: 8,109,416 (GRCm39) |
Y52H |
probably damaging |
Het |
| Stat4 |
C |
A |
1: 52,115,836 (GRCm39) |
Q259K |
probably damaging |
Het |
| Trpm5 |
A |
G |
7: 142,628,206 (GRCm39) |
L1023P |
probably damaging |
Het |
| Ush1c |
T |
A |
7: 45,858,338 (GRCm39) |
N650I |
probably benign |
Het |
| Vmn2r8 |
G |
T |
5: 108,951,085 (GRCm39) |
S120* |
probably null |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp629 |
A |
G |
7: 127,209,401 (GRCm39) |
S803P |
probably benign |
Het |
| Zfp629 |
T |
C |
7: 127,211,059 (GRCm39) |
K250R |
probably damaging |
Het |
| Zfp758 |
T |
A |
17: 22,594,171 (GRCm39) |
I187N |
probably benign |
Het |
| Zfp85 |
T |
A |
13: 67,897,835 (GRCm39) |
K79I |
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 |
|
R1164: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'- GAGGAGAATGCCTTGCCTGAAGATG -3'
(R):5'- TGGTCCGCATTGTGGAGACATAAAG -3'
Sequencing Primer
(F):5'- ATGTACCAAGATGGCTGCCT -3'
(R):5'- TCAATCTCTCCTGGCAGAAGATG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation