Incidental Mutation 'R9414:Zbed6'
| ID |
711916 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
R9414 (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 C
at 133585015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 774
(D774G)
|
| 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: D774G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136026
Gene: ENSMUSG00000094410
AA Change: D774G
| 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: D774G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139417
Gene: ENSMUSG00000094410
AA Change: D774G
| 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: D774G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140892
Gene: ENSMUSG00000102049
AA Change: D774G
| 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: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
| Validation Efficiency |
98% (59/60) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
T |
11: 110,035,100 (GRCm39) |
I689K |
probably damaging |
Het |
| Agtpbp1 |
G |
T |
13: 59,609,902 (GRCm39) |
T1076K |
probably damaging |
Het |
| Ammecr1l |
A |
G |
18: 31,904,962 (GRCm39) |
T68A |
probably benign |
Het |
| Arvcf |
A |
G |
16: 18,215,580 (GRCm39) |
E264G |
probably damaging |
Het |
| Cacna1b |
C |
T |
2: 24,538,514 (GRCm39) |
D1542N |
probably damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,392,395 (GRCm39) |
T512A |
probably damaging |
Het |
| Crebbp |
A |
G |
16: 3,925,356 (GRCm39) |
C1213R |
probably damaging |
Het |
| Cybrd1 |
G |
T |
2: 70,948,567 (GRCm39) |
R35L |
probably damaging |
Het |
| Dcaf1 |
G |
A |
9: 106,757,158 (GRCm39) |
W1412* |
probably null |
Het |
| Eif4e |
T |
A |
3: 138,253,495 (GRCm39) |
D67E |
probably benign |
Het |
| Epb41 |
G |
A |
4: 131,702,162 (GRCm39) |
T491I |
probably damaging |
Het |
| Fez1 |
G |
A |
9: 36,779,247 (GRCm39) |
S308N |
probably benign |
Het |
| Fgfr3 |
A |
G |
5: 33,887,298 (GRCm39) |
S206G |
possibly damaging |
Het |
| Flcn |
A |
T |
11: 59,684,998 (GRCm39) |
N484K |
possibly damaging |
Het |
| Gdap2 |
T |
C |
3: 100,090,071 (GRCm39) |
|
probably null |
Het |
| Gfpt1 |
T |
A |
6: 87,062,265 (GRCm39) |
D541E |
probably benign |
Het |
| Gm5089 |
A |
G |
14: 122,673,604 (GRCm39) |
F39S |
unknown |
Het |
| Gm7694 |
C |
T |
1: 170,130,173 (GRCm39) |
G75D |
probably benign |
Het |
| Gpr15 |
A |
G |
16: 58,538,516 (GRCm39) |
L191S |
probably benign |
Het |
| Hmcn1 |
T |
G |
1: 150,545,187 (GRCm39) |
T2807P |
probably damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,783,349 (GRCm39) |
T1276A |
|
Het |
| Itgae |
G |
T |
11: 73,002,629 (GRCm39) |
A129S |
possibly damaging |
Het |
| Kcns1 |
T |
C |
2: 164,010,378 (GRCm39) |
E127G |
probably damaging |
Het |
| Kmt2b |
T |
C |
7: 30,282,307 (GRCm39) |
E1118G |
probably damaging |
Het |
| Lair1 |
T |
C |
7: 4,013,819 (GRCm39) |
I143V |
probably benign |
Het |
| Lcmt2 |
T |
C |
2: 120,970,621 (GRCm39) |
D154G |
possibly damaging |
Het |
| Ly9 |
T |
C |
1: 171,427,275 (GRCm39) |
T427A |
probably damaging |
Het |
| Man2c1 |
A |
G |
9: 57,044,030 (GRCm39) |
T281A |
possibly damaging |
Het |
| Map4k2 |
T |
C |
19: 6,394,515 (GRCm39) |
F332L |
probably benign |
Het |
| Meak7 |
A |
T |
8: 120,495,081 (GRCm39) |
S226T |
probably benign |
Het |
| Mmp10 |
A |
T |
9: 7,502,489 (GRCm39) |
D32V |
probably benign |
Het |
| Mroh2a |
C |
T |
1: 88,179,096 (GRCm39) |
R1110W |
probably benign |
Het |
| Naip2 |
T |
A |
13: 100,298,243 (GRCm39) |
S598C |
probably damaging |
Het |
| Npnt |
T |
C |
3: 132,612,116 (GRCm39) |
N300S |
probably benign |
Het |
| Or13a20 |
C |
A |
7: 140,232,263 (GRCm39) |
R124S |
probably damaging |
Het |
| Or5b95 |
T |
C |
19: 12,657,712 (GRCm39) |
V80A |
probably benign |
Het |
| Or5k15 |
G |
A |
16: 58,710,565 (GRCm39) |
T6I |
probably benign |
Het |
| Pacsin1 |
T |
C |
17: 27,926,985 (GRCm39) |
V387A |
probably damaging |
Het |
| Pald1 |
G |
T |
10: 61,178,932 (GRCm39) |
A489E |
probably benign |
Het |
| Pcnx1 |
G |
T |
12: 81,964,978 (GRCm39) |
G382W |
probably damaging |
Het |
| Pde6b |
T |
A |
5: 108,567,592 (GRCm39) |
M294K |
possibly damaging |
Het |
| Phf20 |
T |
C |
2: 156,136,167 (GRCm39) |
V662A |
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,603,276 (GRCm39) |
I1149T |
possibly damaging |
Het |
| Prdx2 |
T |
C |
8: 85,697,196 (GRCm39) |
S79P |
probably damaging |
Het |
| Rab19 |
T |
C |
6: 39,360,855 (GRCm39) |
M1T |
probably null |
Het |
| Retn |
T |
G |
8: 3,706,908 (GRCm39) |
F44C |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,313,841 (GRCm39) |
W507R |
unknown |
Het |
| Rsf1 |
A |
C |
7: 97,313,765 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
C |
T |
2: 112,501,011 (GRCm39) |
E3561K |
possibly damaging |
Het |
| Scaf1 |
T |
A |
7: 44,652,716 (GRCm39) |
Y1220F |
unknown |
Het |
| Sowahc |
A |
G |
10: 59,058,491 (GRCm39) |
K209R |
probably benign |
Het |
| Supt20 |
T |
A |
3: 54,610,504 (GRCm39) |
I103N |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,545,367 (GRCm39) |
E2498G |
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,674,935 (GRCm39) |
N1047S |
probably benign |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Tub |
T |
A |
7: 108,626,265 (GRCm39) |
I267N |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,223,507 (GRCm39) |
E594G |
probably benign |
Het |
| Vmn2r104 |
T |
A |
17: 20,250,250 (GRCm39) |
I674F |
probably damaging |
Het |
| Zcchc4 |
T |
C |
5: 52,953,964 (GRCm39) |
S215P |
probably benign |
Het |
| Zfc3h1 |
T |
G |
10: 115,249,916 (GRCm39) |
S1177A |
possibly damaging |
Het |
| Zfp646 |
G |
A |
7: 127,481,050 (GRCm39) |
A1076T |
probably damaging |
Het |
| Zfp735 |
T |
A |
11: 73,602,023 (GRCm39) |
Y322* |
probably null |
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 |
|
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 |
|
|
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'- TAAACGAATCAGTTCCTAACCTAACTA -3'
(R):5'- CATCTTCTCCCAGTAATGGTGG -3'
Sequencing Primer
(F):5'- CCTAACTAAAGGGCCAGATGTTTCAG -3'
(R):5'- TCTTAAGCCATTTGAGGAGGCCAC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation