Incidental Mutation 'R5804:Zbtb22'
ID |
448427 |
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 |
043211-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.154)
|
Stock # |
R5804 (G1)
|
Quality Score |
217 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
34135150-34138299 bp(+) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
TGGACCCGGGAC to TGGACCCGGGACCCGGGAC
at 34137593 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 null
Transcript: ENSMUST00000053429
|
SMART Domains |
Protein: ENSMUSP00000057466 Gene: ENSMUSG00000051390
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: ENSMUST00000174646
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185388
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173279
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189156
|
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: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abat |
A |
T |
16: 8,396,100 (GRCm39) |
R19* |
probably null |
Het |
Abcb9 |
A |
G |
5: 124,218,118 (GRCm39) |
M406T |
probably benign |
Het |
Ager |
A |
G |
17: 34,817,157 (GRCm39) |
E32G |
probably damaging |
Het |
Cdk10 |
T |
A |
8: 123,955,579 (GRCm39) |
|
probably null |
Het |
Cfap97d1 |
A |
G |
11: 101,881,640 (GRCm39) |
N112S |
probably damaging |
Het |
Ctsl |
A |
T |
13: 64,514,302 (GRCm39) |
Y259N |
probably damaging |
Het |
Ctu2 |
T |
C |
8: 123,207,965 (GRCm39) |
|
probably null |
Het |
Dse |
T |
A |
10: 34,029,375 (GRCm39) |
I572F |
possibly damaging |
Het |
Flt1 |
A |
T |
5: 147,517,247 (GRCm39) |
|
probably null |
Het |
Gatm |
T |
A |
2: 122,433,083 (GRCm39) |
Y193F |
probably benign |
Het |
Gpaa1 |
T |
C |
15: 76,216,826 (GRCm39) |
F170S |
probably damaging |
Het |
Grm3 |
A |
G |
5: 9,620,155 (GRCm39) |
L363P |
probably benign |
Het |
Heatr5b |
G |
A |
17: 79,138,951 (GRCm39) |
P64S |
probably damaging |
Het |
Hfm1 |
A |
G |
5: 107,026,455 (GRCm39) |
|
probably null |
Het |
Hivep2 |
A |
C |
10: 14,009,519 (GRCm39) |
K1725N |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,550,098 (GRCm39) |
C2695* |
probably null |
Het |
Hmgcr |
G |
A |
13: 96,802,695 (GRCm39) |
T68M |
probably damaging |
Het |
Igsf21 |
A |
T |
4: 139,755,385 (GRCm39) |
D423E |
possibly damaging |
Het |
Jag1 |
T |
C |
2: 136,930,124 (GRCm39) |
N751S |
probably benign |
Het |
Klrc2 |
A |
T |
6: 129,637,436 (GRCm39) |
N28K |
possibly damaging |
Het |
Lrrc8c |
A |
T |
5: 105,727,423 (GRCm39) |
D29V |
possibly damaging |
Het |
Mtcl1 |
A |
C |
17: 66,650,132 (GRCm39) |
S1329A |
probably benign |
Het |
Nin |
C |
T |
12: 70,092,375 (GRCm39) |
V645I |
possibly damaging |
Het |
Or4c127 |
T |
C |
2: 89,833,332 (GRCm39) |
I194T |
possibly damaging |
Het |
Or51i1 |
T |
C |
7: 103,671,439 (GRCm39) |
I29V |
probably benign |
Het |
Or8s2 |
T |
A |
15: 98,276,215 (GRCm39) |
M259L |
probably benign |
Het |
Or9g4 |
T |
A |
2: 85,504,682 (GRCm39) |
D271V |
probably damaging |
Het |
Pfpl |
A |
T |
19: 12,407,027 (GRCm39) |
H426L |
probably benign |
Het |
Poteg |
A |
G |
8: 27,946,826 (GRCm39) |
D238G |
probably damaging |
Het |
Psen1 |
T |
C |
12: 83,778,474 (GRCm39) |
F386L |
probably damaging |
Het |
Rassf9 |
A |
T |
10: 102,380,905 (GRCm39) |
I96F |
probably damaging |
Het |
Robo1 |
T |
C |
16: 72,840,077 (GRCm39) |
|
probably null |
Het |
Slc16a4 |
A |
T |
3: 107,206,280 (GRCm39) |
M117L |
probably benign |
Het |
Slc4a8 |
A |
G |
15: 100,689,506 (GRCm39) |
N372S |
possibly damaging |
Het |
Stmn4 |
G |
A |
14: 66,593,748 (GRCm39) |
G47D |
probably benign |
Het |
Tex26 |
A |
G |
5: 149,386,612 (GRCm39) |
N137S |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,747,163 (GRCm39) |
I4629F |
probably benign |
Het |
Ubash3a |
G |
A |
17: 31,427,206 (GRCm39) |
|
probably null |
Het |
Ube3d |
T |
C |
9: 86,307,401 (GRCm39) |
I233V |
probably benign |
Het |
Utrn |
T |
A |
10: 12,297,369 (GRCm39) |
T680S |
probably damaging |
Het |
Vps13d |
G |
A |
4: 144,826,640 (GRCm39) |
T2846I |
probably benign |
Het |
Zfp41 |
C |
T |
15: 75,490,557 (GRCm39) |
P170S |
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 |
|
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'- TATGCATCTCAACCTGCGAC -3'
(R):5'- ATTGCCTGCTCTTCAGTGTG -3'
Sequencing Primer
(F):5'- AACCTGCGACCCTTTGACTG -3'
(R):5'- GTGTGCTGCACCTCCAC -3'
|
Posted On |
2016-12-15 |