Incidental Mutation 'R6975:Zbtb22'
| ID |
542439 |
| 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 |
045085-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R6975 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34135150-34138299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 34136938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 361
(D361A)
|
| 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: D361A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000057466
Gene: ENSMUSG00000051390
AA Change: D361A
| 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 |
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 |
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: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.9%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
A |
9: 124,056,687 (GRCm39) |
H100L |
probably benign |
Het |
| Apaf1 |
A |
T |
10: 90,856,596 (GRCm39) |
H870Q |
probably damaging |
Het |
| Aplf |
T |
C |
6: 87,623,068 (GRCm39) |
D358G |
probably damaging |
Het |
| Atp10a |
A |
T |
7: 58,423,733 (GRCm39) |
S233C |
probably damaging |
Het |
| Ccdc158 |
A |
T |
5: 92,814,579 (GRCm39) |
Y82* |
probably null |
Het |
| Clba1 |
C |
T |
12: 112,773,217 (GRCm39) |
P70L |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,491,600 (GRCm39) |
D149G |
probably damaging |
Het |
| Cyp4f14 |
T |
C |
17: 33,133,608 (GRCm39) |
T83A |
probably benign |
Het |
| Endog |
A |
G |
2: 30,061,648 (GRCm39) |
|
probably benign |
Het |
| Extl3 |
T |
C |
14: 65,304,246 (GRCm39) |
E721G |
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gcn1 |
A |
G |
5: 115,751,518 (GRCm39) |
H2033R |
probably damaging |
Het |
| Gm12830 |
T |
C |
4: 114,702,246 (GRCm39) |
M136T |
|
Het |
| Gm6871 |
T |
C |
7: 41,196,202 (GRCm39) |
|
silent |
Het |
| Hoxc4 |
T |
C |
15: 102,944,098 (GRCm39) |
S159P |
probably damaging |
Het |
| Ift70a2 |
T |
C |
2: 75,806,752 (GRCm39) |
R587G |
probably damaging |
Het |
| Ift70a2 |
A |
T |
2: 75,808,004 (GRCm39) |
Y169* |
probably null |
Het |
| Igf2bp2 |
T |
A |
16: 21,880,611 (GRCm39) |
Q494L |
probably null |
Het |
| Igfn1 |
T |
A |
1: 135,896,183 (GRCm39) |
N1461I |
probably damaging |
Het |
| Il23r |
C |
A |
6: 67,400,352 (GRCm39) |
K659N |
probably damaging |
Het |
| Map3k11 |
A |
G |
19: 5,740,755 (GRCm39) |
S161G |
possibly damaging |
Het |
| Naip6 |
T |
A |
13: 100,452,773 (GRCm39) |
Q96L |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,642,057 (GRCm39) |
E802G |
probably damaging |
Het |
| Nutm1 |
G |
A |
2: 112,086,563 (GRCm39) |
S56F |
probably damaging |
Het |
| Or10x4 |
T |
A |
1: 174,219,243 (GRCm39) |
S203T |
probably benign |
Het |
| Or51a24 |
T |
C |
7: 103,734,002 (GRCm39) |
N95S |
probably benign |
Het |
| Otop2 |
A |
T |
11: 115,220,152 (GRCm39) |
S331C |
possibly damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,387,539 (GRCm39) |
R1818G |
possibly damaging |
Het |
| Pms1 |
A |
T |
1: 53,228,590 (GRCm39) |
I886N |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,588,068 (GRCm39) |
Y1107C |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,611,062 (GRCm39) |
T362A |
probably damaging |
Het |
| Rarb |
A |
G |
14: 16,574,942 (GRCm38) |
S25P |
possibly damaging |
Het |
| Rnf121 |
A |
T |
7: 101,673,218 (GRCm39) |
|
probably null |
Het |
| Sae1 |
T |
C |
7: 16,070,712 (GRCm39) |
Y266C |
probably damaging |
Het |
| Scpep1 |
A |
T |
11: 88,838,031 (GRCm39) |
F85L |
probably damaging |
Het |
| Shank1 |
T |
A |
7: 43,962,530 (GRCm39) |
|
probably null |
Het |
| Slc40a1 |
T |
C |
1: 45,948,652 (GRCm39) |
K543E |
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 94,842,499 (GRCm39) |
Y350C |
probably damaging |
Het |
| Sun2 |
G |
T |
15: 79,618,420 (GRCm39) |
Y246* |
probably null |
Het |
| Tas1r2 |
T |
A |
4: 139,397,031 (GRCm39) |
I790N |
probably damaging |
Het |
| Tmtc2 |
T |
C |
10: 105,158,863 (GRCm39) |
T577A |
probably benign |
Het |
| Trim24 |
T |
G |
6: 37,896,427 (GRCm39) |
|
probably null |
Het |
| Ttc12 |
A |
G |
9: 49,349,718 (GRCm39) |
V693A |
probably benign |
Het |
| Zfp276 |
T |
A |
8: 123,983,570 (GRCm39) |
C324* |
probably null |
Het |
| Zfp536 |
A |
G |
7: 37,267,952 (GRCm39) |
L488P |
probably damaging |
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 |
|
|
R4086:Zbtb22
|
UTSW |
17 |
34,137,142 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- TAGAAATTGCCCTGCACCAGC -3'
(R):5'- ACCAGAGCCACTTGGTATGC -3'
Sequencing Primer
(F):5'- CCTCCCTGGTCCACCAAG -3'
(R):5'- TTGCCCGGCACATCCAATG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation