Incidental Mutation 'R2097:Zbtb20'
| ID |
230338 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb20
|
| Ensembl Gene |
ENSMUSG00000022708 |
| Gene Name |
zinc finger and BTB domain containing 20 |
| Synonyms |
Zfp288, D16Wsu73e, 7330412A13Rik, 1300017A20Rik, HOF, A930017C21Rik |
| MMRRC Submission |
040101-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2097 (G1)
|
| Quality Score |
146 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
42875881-43642602 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43609519 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 131
(D131G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079441]
[ENSMUST00000114690]
[ENSMUST00000114691]
[ENSMUST00000114694]
[ENSMUST00000114695]
[ENSMUST00000146708]
[ENSMUST00000148775]
[ENSMUST00000156367]
[ENSMUST00000156981]
|
| AlphaFold |
Q8K0L9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079441
AA Change: D131G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078410
Gene: ENSMUSG00000022708
AA Change: D131G
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
104 |
197 |
2.04e-21 |
SMART |
|
low complexity region
|
403 |
423 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
578 |
600 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
606 |
628 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
634 |
656 |
7.6e-6 |
SMART |
|
ZnF_C2H2
|
662 |
684 |
5.06e-2 |
SMART |
|
low complexity region
|
689 |
708 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
715 |
737 |
7.9e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114690
AA Change: D58G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110338
Gene: ENSMUSG00000022708
AA Change: D58G
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
31 |
124 |
2.04e-21 |
SMART |
|
low complexity region
|
330 |
350 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
505 |
527 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
533 |
555 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
561 |
583 |
7.6e-6 |
SMART |
|
ZnF_C2H2
|
589 |
611 |
5.06e-2 |
SMART |
|
low complexity region
|
616 |
635 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
642 |
664 |
7.9e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114691
AA Change: D58G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110339
Gene: ENSMUSG00000022708
AA Change: D58G
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
31 |
124 |
2.04e-21 |
SMART |
|
low complexity region
|
330 |
350 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
505 |
527 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
533 |
555 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
561 |
583 |
7.6e-6 |
SMART |
|
ZnF_C2H2
|
589 |
611 |
5.06e-2 |
SMART |
|
low complexity region
|
616 |
635 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
642 |
664 |
7.9e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114694
AA Change: D131G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110342
Gene: ENSMUSG00000022708
AA Change: D131G
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
104 |
197 |
2.04e-21 |
SMART |
|
low complexity region
|
403 |
423 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
578 |
600 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
606 |
628 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
634 |
656 |
7.6e-6 |
SMART |
|
ZnF_C2H2
|
662 |
684 |
5.06e-2 |
SMART |
|
low complexity region
|
689 |
708 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
715 |
737 |
7.9e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114695
AA Change: D131G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110343
Gene: ENSMUSG00000022708
AA Change: D131G
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
104 |
197 |
2.04e-21 |
SMART |
|
low complexity region
|
403 |
423 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
578 |
600 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
606 |
628 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
634 |
656 |
7.6e-6 |
SMART |
|
ZnF_C2H2
|
662 |
684 |
5.06e-2 |
SMART |
|
low complexity region
|
689 |
708 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
715 |
737 |
7.9e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146708
AA Change: D58G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125233
Gene: ENSMUSG00000022708
AA Change: D58G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
21 |
74 |
3.7e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148775
AA Change: D58G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125016
Gene: ENSMUSG00000022708
AA Change: D58G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
21 |
60 |
9.8e-13 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000156367
AA Change: D131G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124126
Gene: ENSMUSG00000022708
AA Change: D131G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
94 |
131 |
1.1e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156981
AA Change: D58G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124189
Gene: ENSMUSG00000022708
AA Change: D58G
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
31 |
124 |
2.04e-21 |
SMART |
|
| Meta Mutation Damage Score |
0.8641 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, which was initially designated as dendritic cell-derived BTB/POZ zinc finger (DPZF), belongs to a family of transcription factors with an N-terminal BTB/POZ domain and a C-terminal DNA-bindng zinc finger domain. The BTB/POZ domain is a hydrophobic region of approximately 120 aa which mediates association with other BTB/POZ domain-containing proteins. This gene acts as a transcriptional repressor and plays a role in many processes including neurogenesis, glucose homeostasis, and postnatal growth. Mutations in this gene have been associated with Primrose syndrome as well as the 3q13.31 microdeletion syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit growth retardation, disrupted homeostasis, and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430419D17Rik |
A |
T |
7: 131,181,964 |
R29* |
probably null |
Het |
| Actr8 |
T |
C |
14: 29,987,228 |
V263A |
probably damaging |
Het |
| Apol6 |
T |
A |
15: 77,047,133 |
|
probably null |
Het |
| Aqp3 |
C |
T |
4: 41,098,004 |
V36M |
possibly damaging |
Het |
| Bace1 |
G |
T |
9: 45,860,222 |
C478F |
probably benign |
Het |
| Bbof1 |
C |
A |
12: 84,413,307 |
A116D |
probably damaging |
Het |
| Casq1 |
A |
T |
1: 172,210,421 |
L381Q |
probably damaging |
Het |
| Ccdc138 |
T |
A |
10: 58,561,937 |
L533* |
probably null |
Het |
| Cnga1 |
C |
T |
5: 72,619,061 |
V20I |
possibly damaging |
Het |
| Cntn6 |
A |
G |
6: 104,861,949 |
E988G |
probably damaging |
Het |
| Cts6 |
T |
A |
13: 61,195,445 |
N321Y |
probably damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,909,788 |
S1269P |
probably benign |
Het |
| Dsg4 |
C |
A |
18: 20,471,044 |
P856H |
probably damaging |
Het |
| Fndc3a |
C |
A |
14: 72,574,351 |
|
probably null |
Het |
| Galc |
T |
C |
12: 98,252,032 |
D187G |
probably benign |
Het |
| Gfm1 |
T |
C |
3: 67,449,746 |
I384T |
probably damaging |
Het |
| Hacd2 |
A |
G |
16: 35,048,720 |
I92V |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,380,419 |
Y1223N |
probably damaging |
Het |
| Il20ra |
T |
C |
10: 19,759,463 |
I484T |
probably damaging |
Het |
| Map7 |
G |
T |
10: 20,246,616 |
V143F |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,512,489 |
L1893P |
probably damaging |
Het |
| Msh6 |
A |
G |
17: 87,985,416 |
N533S |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,723,217 |
D2233G |
probably damaging |
Het |
| Nlrp6 |
A |
T |
7: 140,923,204 |
T408S |
probably damaging |
Het |
| Notch3 |
A |
T |
17: 32,122,754 |
L2008Q |
probably damaging |
Het |
| Olfr1051 |
A |
T |
2: 86,276,039 |
Y149* |
probably null |
Het |
| Olfr603 |
T |
A |
7: 103,383,633 |
D123V |
probably damaging |
Het |
| Pggt1b |
T |
C |
18: 46,246,628 |
N296D |
probably benign |
Het |
| Pglyrp3 |
T |
A |
3: 92,028,171 |
F243I |
possibly damaging |
Het |
| Phip |
T |
C |
9: 82,915,339 |
H537R |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,524,959 |
E944A |
probably benign |
Het |
| Ptpdc1 |
T |
A |
13: 48,592,659 |
|
probably null |
Het |
| Ptprq |
T |
C |
10: 107,653,493 |
T924A |
probably benign |
Het |
| Pwp2 |
C |
A |
10: 78,177,742 |
|
probably benign |
Het |
| Slc7a4 |
G |
T |
16: 17,573,455 |
|
probably null |
Het |
| Tmem132b |
T |
A |
5: 125,638,208 |
I327K |
probably damaging |
Het |
| Trim9 |
T |
C |
12: 70,347,159 |
M4V |
probably damaging |
Het |
| Tspan13 |
T |
C |
12: 36,021,830 |
S128G |
probably benign |
Het |
| Ttc25 |
T |
A |
11: 100,563,582 |
F398I |
possibly damaging |
Het |
| Zeb2 |
A |
T |
2: 44,997,156 |
C615S |
probably damaging |
Het |
| Zfp777 |
C |
T |
6: 48,044,242 |
D149N |
probably benign |
Het |
| Zfp990 |
A |
G |
4: 145,537,322 |
K297E |
possibly damaging |
Het |
|
| Other mutations in Zbtb20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01761:Zbtb20
|
APN |
16 |
43610661 |
missense |
possibly damaging |
0.85 |
|
IGL02170:Zbtb20
|
APN |
16 |
43609662 |
missense |
possibly damaging |
0.84 |
|
IGL02292:Zbtb20
|
APN |
16 |
43610648 |
nonsense |
probably null |
|
|
IGL02733:Zbtb20
|
APN |
16 |
43609933 |
missense |
possibly damaging |
0.48 |
|
IGL03277:Zbtb20
|
APN |
16 |
43618437 |
missense |
possibly damaging |
0.95 |
|
siberian
|
UTSW |
16 |
43610676 |
missense |
probably damaging |
0.96 |
|
Tiger
|
UTSW |
16 |
43618398 |
missense |
probably damaging |
0.98 |
|
Towering
|
UTSW |
16 |
43610867 |
nonsense |
probably null |
|
|
R0310:Zbtb20
|
UTSW |
16 |
43609746 |
missense |
probably damaging |
0.98 |
|
R1593:Zbtb20
|
UTSW |
16 |
43609423 |
missense |
probably damaging |
0.99 |
|
R1996:Zbtb20
|
UTSW |
16 |
43610080 |
missense |
probably damaging |
0.98 |
|
R2018:Zbtb20
|
UTSW |
16 |
43577652 |
missense |
possibly damaging |
0.86 |
|
R2050:Zbtb20
|
UTSW |
16 |
43609612 |
splice site |
probably null |
|
|
R4006:Zbtb20
|
UTSW |
16 |
43609399 |
missense |
probably damaging |
1.00 |
|
R4708:Zbtb20
|
UTSW |
16 |
43610676 |
missense |
probably damaging |
0.96 |
|
R4710:Zbtb20
|
UTSW |
16 |
43610676 |
missense |
probably damaging |
0.96 |
|
R4835:Zbtb20
|
UTSW |
16 |
43618398 |
missense |
probably damaging |
0.98 |
|
R4962:Zbtb20
|
UTSW |
16 |
43618692 |
missense |
probably damaging |
0.99 |
|
R5531:Zbtb20
|
UTSW |
16 |
43610867 |
nonsense |
probably null |
|
|
R7452:Zbtb20
|
UTSW |
16 |
43610676 |
missense |
probably damaging |
0.96 |
|
R7523:Zbtb20
|
UTSW |
16 |
43610512 |
missense |
probably benign |
0.01 |
|
R8175:Zbtb20
|
UTSW |
16 |
43577080 |
intron |
probably benign |
|
|
R8306:Zbtb20
|
UTSW |
16 |
43618737 |
missense |
probably damaging |
0.99 |
|
R8811:Zbtb20
|
UTSW |
16 |
43610494 |
missense |
probably benign |
|
|
R8922:Zbtb20
|
UTSW |
16 |
43577605 |
missense |
probably damaging |
0.99 |
|
R9164:Zbtb20
|
UTSW |
16 |
43610401 |
missense |
probably benign |
0.02 |
|
R9687:Zbtb20
|
UTSW |
16 |
43609797 |
missense |
possibly damaging |
0.83 |
|
Z1176:Zbtb20
|
UTSW |
16 |
43610530 |
missense |
probably benign |
0.15 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAAACTACAGGTGACATCAGTTGC -3'
(R):5'- GTTCTGTGACACGATGCGAG -3'
Sequencing Primer
(F):5'- CATCAGTTGCAAGGGGATGACC -3'
(R):5'- GCGAGTGCACTCATCTATGACTG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation