Incidental Mutation 'R5048:Zbed6'
ID |
394442 |
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 |
042638-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.191)
|
Stock # |
R5048 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
133547678-133589056 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 133586462 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 292
(S292G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140892
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027736]
[ENSMUST00000179598]
[ENSMUST00000186476]
[ENSMUST00000190574]
[ENSMUST00000191896]
[ENSMUST00000194668]
[ENSMUST00000195424]
[ENSMUST00000193504]
[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: S292G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000136026 Gene: ENSMUSG00000094410 AA Change: S292G
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: S292G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000139417 Gene: ENSMUSG00000094410 AA Change: S292G
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: S292G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140892 Gene: ENSMUSG00000102049 AA Change: S292G
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: ENSMUST00000192775
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192148
|
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: 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: ENSMUST00000195067
|
Meta Mutation Damage Score |
0.2284 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.1%
|
Validation Efficiency |
98% (64/65) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
T |
C |
2: 69,138,850 (GRCm39) |
I144V |
probably benign |
Het |
Abhd5 |
T |
C |
9: 122,206,968 (GRCm39) |
Y85H |
probably damaging |
Het |
Acadsb |
G |
A |
7: 131,039,198 (GRCm39) |
G323D |
probably damaging |
Het |
Amotl2 |
A |
G |
9: 102,600,997 (GRCm39) |
R322G |
probably benign |
Het |
Aox1 |
A |
T |
1: 58,098,641 (GRCm39) |
|
probably benign |
Het |
Aste1 |
C |
T |
9: 105,274,188 (GRCm39) |
R82W |
probably damaging |
Het |
Atg4b |
T |
C |
1: 93,703,380 (GRCm39) |
I139T |
possibly damaging |
Het |
Btnl5-ps |
T |
A |
17: 34,707,697 (GRCm39) |
|
noncoding transcript |
Het |
Ccdc85c |
A |
G |
12: 108,187,966 (GRCm39) |
|
probably null |
Het |
Clasp1 |
A |
G |
1: 118,475,340 (GRCm39) |
|
probably benign |
Het |
Defb10 |
G |
A |
8: 22,351,887 (GRCm39) |
C44Y |
probably damaging |
Het |
Dhrs9 |
T |
C |
2: 69,224,744 (GRCm39) |
V144A |
probably damaging |
Het |
Dnhd1 |
G |
C |
7: 105,342,904 (GRCm39) |
S1416T |
probably benign |
Het |
Dok1 |
T |
A |
6: 83,009,087 (GRCm39) |
|
probably benign |
Het |
Emilin2 |
G |
A |
17: 71,580,962 (GRCm39) |
T588M |
probably damaging |
Het |
Fam181b |
A |
G |
7: 92,729,147 (GRCm39) |
|
probably benign |
Het |
Fhad1 |
T |
C |
4: 141,691,987 (GRCm39) |
|
probably null |
Het |
Foxi2 |
A |
G |
7: 135,013,364 (GRCm39) |
E198G |
probably damaging |
Het |
Fsip2 |
C |
A |
2: 82,823,494 (GRCm39) |
A6409E |
probably damaging |
Het |
Gje1 |
T |
C |
10: 14,593,021 (GRCm39) |
Y65C |
probably damaging |
Het |
Gm6401 |
T |
C |
14: 41,789,724 (GRCm39) |
|
probably null |
Het |
Gprc5c |
T |
C |
11: 114,761,177 (GRCm39) |
*442Q |
probably null |
Het |
Iars1 |
T |
A |
13: 49,841,713 (GRCm39) |
I67N |
probably damaging |
Het |
Igkv4-79 |
T |
C |
6: 69,019,971 (GRCm39) |
S115G |
probably benign |
Het |
Itga4 |
C |
A |
2: 79,103,378 (GRCm39) |
S156R |
probably benign |
Het |
Lilra6 |
C |
T |
7: 3,918,440 (GRCm39) |
|
probably null |
Het |
Majin |
C |
A |
19: 6,272,684 (GRCm39) |
A208E |
probably benign |
Het |
Megf8 |
A |
G |
7: 25,030,517 (GRCm39) |
Q490R |
possibly damaging |
Het |
Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
Mgarp |
G |
A |
3: 51,298,707 (GRCm39) |
R88C |
probably damaging |
Het |
Msh2 |
T |
C |
17: 87,980,196 (GRCm39) |
F58S |
probably damaging |
Het |
Nemp1 |
T |
C |
10: 127,526,804 (GRCm39) |
|
probably null |
Het |
Nlrp10 |
A |
T |
7: 108,523,772 (GRCm39) |
N569K |
probably benign |
Het |
Nxpe2 |
T |
C |
9: 48,237,388 (GRCm39) |
|
probably null |
Het |
Or4c106 |
T |
C |
2: 88,682,807 (GRCm39) |
V171A |
possibly damaging |
Het |
Or5w16 |
C |
A |
2: 87,576,663 (GRCm39) |
A41E |
probably benign |
Het |
Pdcd11 |
C |
A |
19: 47,095,554 (GRCm39) |
S625R |
probably benign |
Het |
Pigb |
T |
A |
9: 72,936,990 (GRCm39) |
|
probably null |
Het |
Pitpnb |
T |
C |
5: 111,530,869 (GRCm39) |
F221L |
possibly damaging |
Het |
Prox2 |
A |
T |
12: 85,141,115 (GRCm39) |
W363R |
probably damaging |
Het |
Psmg1 |
T |
A |
16: 95,785,171 (GRCm39) |
R139S |
probably benign |
Het |
Rab11fip3 |
A |
G |
17: 26,286,554 (GRCm39) |
|
probably null |
Het |
Samd9l |
G |
A |
6: 3,374,157 (GRCm39) |
R1035C |
probably benign |
Het |
Shkbp1 |
G |
A |
7: 27,051,521 (GRCm39) |
|
probably benign |
Het |
Slc30a5 |
C |
A |
13: 100,943,249 (GRCm39) |
L536F |
probably damaging |
Het |
Slc6a17 |
A |
T |
3: 107,378,753 (GRCm39) |
L643* |
probably null |
Het |
Slit3 |
T |
C |
11: 35,479,812 (GRCm39) |
Y330H |
probably damaging |
Het |
St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
Stoml3 |
A |
C |
3: 53,408,213 (GRCm39) |
K86N |
possibly damaging |
Het |
Tmtc1 |
A |
T |
6: 148,139,344 (GRCm39) |
L926Q |
possibly damaging |
Het |
Tns4 |
T |
G |
11: 98,969,605 (GRCm39) |
R285S |
possibly damaging |
Het |
Uncx |
C |
T |
5: 139,532,874 (GRCm39) |
T313M |
probably benign |
Het |
Vmn2r75 |
G |
A |
7: 85,814,735 (GRCm39) |
R253C |
possibly damaging |
Het |
Zfp143 |
A |
G |
7: 109,673,325 (GRCm39) |
T142A |
probably damaging |
Het |
Zfp287 |
T |
C |
11: 62,605,777 (GRCm39) |
K366E |
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 |
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 |
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'- GGCATCGTATCATTCAGGAGATC -3'
(R):5'- TCTCCTGGAAGCAATGGAAGC -3'
Sequencing Primer
(F):5'- CGTATCATTCAGGAGATCACTGC -3'
(R):5'- GGAAGCTTTGAGTATATTCCTACTG -3'
|
Posted On |
2016-06-15 |