Incidental Mutation 'R4086:Zbtb22'
| ID |
317393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb22
|
| Ensembl Gene |
ENSMUSG00000051390 |
| Gene Name |
zinc finger and BTB domain containing 22 |
| Synonyms |
Bing1, 1110008J20Rik, Zfp297 |
| MMRRC Submission |
041625-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R4086 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34135150-34138299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34137142 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 429
(V429D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025161]
[ENSMUST00000053429]
[ENSMUST00000079421]
[ENSMUST00000170075]
[ENSMUST00000172619]
[ENSMUST00000174146]
[ENSMUST00000174463]
[ENSMUST00000174541]
|
| AlphaFold |
Q9Z0G7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025161
|
| SMART Domains |
Protein: ENSMUSP00000025161
Gene: ENSMUSG00000024308
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
152 |
N/A |
INTRINSIC |
|
IG
|
168 |
292 |
3.45e0 |
SMART |
|
IG_like
|
302 |
406 |
4.78e1 |
SMART |
|
transmembrane domain
|
416 |
438 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053429
AA Change: V429D
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000057466
Gene: ENSMUSG00000051390
AA Change: V429D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
30 |
N/A |
INTRINSIC |
|
BTB
|
57 |
151 |
7.21e-22 |
SMART |
|
low complexity region
|
152 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
403 |
N/A |
INTRINSIC |
|
low complexity region
|
431 |
443 |
N/A |
INTRINSIC |
|
low complexity region
|
460 |
479 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
483 |
504 |
1.24e2 |
SMART |
|
ZnF_C2H2
|
510 |
532 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
538 |
559 |
4.69e0 |
SMART |
|
low complexity region
|
567 |
587 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079421
|
| SMART Domains |
Protein: ENSMUSP00000078390
Gene: ENSMUSG00000002307
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
20 |
N/A |
INTRINSIC |
|
Pfam:Daxx
|
54 |
152 |
1.3e-51 |
PFAM |
|
Blast:KISc
|
185 |
261 |
2e-17 |
BLAST |
|
PDB:4H9S|F
|
189 |
404 |
1e-131 |
PDB |
|
SCOP:d1sig__
|
437 |
493 |
7e-3 |
SMART |
|
low complexity region
|
573 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
693 |
715 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170075
|
| SMART Domains |
Protein: ENSMUSP00000128504
Gene: ENSMUSG00000002307
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Daxx
|
1 |
740 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172489
|
| SMART Domains |
Protein: ENSMUSP00000133332
Gene: ENSMUSG00000024308
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
18 |
142 |
3.45e0 |
SMART |
|
SCOP:d2fbjh2
|
143 |
189 |
2e-3 |
SMART |
|
Blast:IG_like
|
152 |
206 |
6e-31 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172619
|
| SMART Domains |
Protein: ENSMUSP00000134695
Gene: ENSMUSG00000024308
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3F8U|D
|
12 |
119 |
1e-38 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189156
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173279
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174646
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185388
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174146
|
| SMART Domains |
Protein: ENSMUSP00000134158
Gene: ENSMUSG00000002307
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Daxx
|
1 |
740 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174463
|
| SMART Domains |
Protein: ENSMUSP00000133345
Gene: ENSMUSG00000051390
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
30 |
N/A |
INTRINSIC |
|
Pfam:BTB
|
47 |
87 |
7.9e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174541
|
| SMART Domains |
Protein: ENSMUSP00000133552
Gene: ENSMUSG00000002307
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Daxx
|
1 |
702 |
1.5e-297 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd7 |
G |
A |
2: 3,341,488 (GRCm39) |
|
probably null |
Het |
| Acss3 |
T |
G |
10: 106,889,313 (GRCm39) |
Y169S |
probably damaging |
Het |
| Adcy7 |
A |
G |
8: 89,042,414 (GRCm39) |
D427G |
probably benign |
Het |
| Adrm1 |
A |
G |
2: 179,814,627 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,233,984 (GRCm39) |
I1103M |
probably benign |
Het |
| Arhgap32 |
A |
C |
9: 32,158,362 (GRCm39) |
|
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,103,712 (GRCm39) |
R767G |
probably damaging |
Het |
| BC046251 |
A |
G |
7: 65,231,896 (GRCm39) |
|
noncoding transcript |
Het |
| Brwd1 |
T |
C |
16: 95,847,572 (GRCm39) |
S683G |
probably benign |
Het |
| Calcoco1 |
C |
G |
15: 102,618,834 (GRCm39) |
|
probably benign |
Het |
| Carmil1 |
G |
T |
13: 24,208,444 (GRCm39) |
P834T |
possibly damaging |
Het |
| Cldn34c4 |
A |
T |
X: 126,629,011 (GRCm39) |
V153E |
probably damaging |
Het |
| Col24a1 |
G |
A |
3: 145,167,192 (GRCm39) |
G1090R |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 16,042,738 (GRCm39) |
I2332F |
probably damaging |
Het |
| Ets2 |
C |
A |
16: 95,510,833 (GRCm39) |
D30E |
probably damaging |
Het |
| Fam181b |
T |
C |
7: 92,729,788 (GRCm39) |
V187A |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fbxo41 |
C |
T |
6: 85,455,528 (GRCm39) |
R552Q |
possibly damaging |
Het |
| Fstl5 |
G |
T |
3: 76,555,593 (GRCm39) |
C53F |
probably damaging |
Het |
| Ftsj3 |
T |
C |
11: 106,140,395 (GRCm39) |
Y791C |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm15446 |
A |
G |
5: 110,091,121 (GRCm39) |
K458E |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,870,815 (GRCm39) |
I1389V |
probably damaging |
Het |
| Ipo9 |
A |
G |
1: 135,316,428 (GRCm39) |
|
probably benign |
Het |
| Krtap31-1 |
C |
T |
11: 99,799,145 (GRCm39) |
T116I |
possibly damaging |
Het |
| Mafa |
T |
G |
15: 75,618,986 (GRCm39) |
K262N |
probably damaging |
Het |
| Nxph4 |
T |
C |
10: 127,362,555 (GRCm39) |
Y112C |
probably damaging |
Het |
| Or5ak4 |
C |
A |
2: 85,162,170 (GRCm39) |
W24L |
probably benign |
Het |
| Or6c70 |
A |
G |
10: 129,710,167 (GRCm39) |
V153A |
possibly damaging |
Het |
| Pgls |
G |
A |
8: 72,048,734 (GRCm39) |
A142T |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,274,891 (GRCm39) |
I885V |
probably benign |
Het |
| Prkcq |
A |
G |
2: 11,288,679 (GRCm39) |
D544G |
probably damaging |
Het |
| Rnf44 |
T |
C |
13: 54,830,148 (GRCm39) |
N254D |
possibly damaging |
Het |
| Septin10 |
A |
T |
10: 59,028,045 (GRCm39) |
L92* |
probably null |
Het |
| Slc14a2 |
A |
T |
18: 78,248,998 (GRCm39) |
I156N |
probably damaging |
Het |
| Sos1 |
A |
G |
17: 80,756,781 (GRCm39) |
V257A |
probably benign |
Het |
| Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
| Thap12 |
A |
G |
7: 98,365,701 (GRCm39) |
D623G |
possibly damaging |
Het |
| Traf3ip3 |
A |
G |
1: 192,863,628 (GRCm39) |
V414A |
probably damaging |
Het |
| Trim14 |
T |
A |
4: 46,523,709 (GRCm39) |
T110S |
probably benign |
Het |
| Trim30d |
T |
C |
7: 104,137,007 (GRCm39) |
N66D |
probably damaging |
Het |
| Trim65 |
G |
A |
11: 116,017,305 (GRCm39) |
Q386* |
probably null |
Het |
| Ube2u |
T |
A |
4: 100,407,039 (GRCm39) |
I187N |
probably benign |
Het |
| Vmn1r90 |
G |
A |
7: 14,297,219 (GRCm39) |
|
probably benign |
Het |
| Wbp2nl |
A |
G |
15: 82,192,762 (GRCm39) |
M149V |
probably benign |
Het |
| Xpo4 |
C |
T |
14: 57,880,490 (GRCm39) |
|
probably benign |
Het |
| Zbtb21 |
A |
T |
16: 97,753,963 (GRCm39) |
Y135N |
probably damaging |
Het |
| Zfp281 |
T |
A |
1: 136,553,859 (GRCm39) |
I279N |
probably damaging |
Het |
| Zhx1 |
T |
C |
15: 57,916,317 (GRCm39) |
E643G |
possibly damaging |
Het |
| Zzef1 |
C |
T |
11: 72,765,879 (GRCm39) |
H1469Y |
probably benign |
Het |
|
| Other mutations in Zbtb22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02850:Zbtb22
|
APN |
17 |
34,135,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4515001:Zbtb22
|
UTSW |
17 |
34,137,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0539:Zbtb22
|
UTSW |
17 |
34,137,118 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0972:Zbtb22
|
UTSW |
17 |
34,136,326 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2217:Zbtb22
|
UTSW |
17 |
34,136,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2218:Zbtb22
|
UTSW |
17 |
34,136,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2520:Zbtb22
|
UTSW |
17 |
34,135,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3806:Zbtb22
|
UTSW |
17 |
34,135,920 (GRCm39) |
unclassified |
probably benign |
|
|
R5004:Zbtb22
|
UTSW |
17 |
34,136,217 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5141:Zbtb22
|
UTSW |
17 |
34,137,610 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5158:Zbtb22
|
UTSW |
17 |
34,137,423 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5677:Zbtb22
|
UTSW |
17 |
34,136,709 (GRCm39) |
missense |
probably benign |
|
|
R5804:Zbtb22
|
UTSW |
17 |
34,137,593 (GRCm39) |
frame shift |
probably null |
|
|
R6358:Zbtb22
|
UTSW |
17 |
34,137,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6495:Zbtb22
|
UTSW |
17 |
34,136,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6975:Zbtb22
|
UTSW |
17 |
34,136,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7561:Zbtb22
|
UTSW |
17 |
34,136,952 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7658:Zbtb22
|
UTSW |
17 |
34,137,471 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7664:Zbtb22
|
UTSW |
17 |
34,137,553 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8146:Zbtb22
|
UTSW |
17 |
34,135,956 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9687:Zbtb22
|
UTSW |
17 |
34,136,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAGTGATGTTCGGACCTTG -3'
(R):5'- AGAAAGCCTTCCCACAGTGG -3'
Sequencing Primer
(F):5'- TTGACCGAGCCTGCAGACAAG -3'
(R):5'- GTGGCACAGAAAGATCTTATTCCCG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation