Incidental Mutation 'R8146:Zbtb22'
| ID |
632829 |
| 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 |
067574-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R8146 (G1)
|
| Quality Score |
219.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34135150-34138299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 34135956 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 34
(V34L)
|
| 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: V34L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000057466
Gene: ENSMUSG00000051390
AA Change: V34L
| 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 damaging
Transcript: ENSMUST00000174463
AA Change: V34L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133345
Gene: ENSMUSG00000051390
AA Change: V34L
| 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: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
G |
2: 19,498,814 (GRCm39) |
E393A |
possibly damaging |
Het |
| 4930550C14Rik |
A |
G |
9: 53,334,270 (GRCm39) |
D171G |
probably damaging |
Het |
| Abca13 |
T |
C |
11: 9,347,829 (GRCm39) |
Y3561H |
probably damaging |
Het |
| Adgra2 |
T |
A |
8: 27,604,202 (GRCm39) |
V464D |
probably damaging |
Het |
| Adgrl1 |
C |
A |
8: 84,657,618 (GRCm39) |
T408N |
possibly damaging |
Het |
| Anks1b |
G |
A |
10: 90,143,560 (GRCm39) |
R523Q |
probably damaging |
Het |
| Anks6 |
C |
A |
4: 47,043,605 (GRCm39) |
A375S |
unknown |
Het |
| Bbs10 |
T |
A |
10: 111,136,396 (GRCm39) |
I503K |
probably benign |
Het |
| Birc2 |
A |
G |
9: 7,818,797 (GRCm39) |
I598T |
probably damaging |
Het |
| Cbl |
A |
T |
9: 44,076,171 (GRCm39) |
D339E |
probably damaging |
Het |
| Cdh4 |
C |
A |
2: 179,515,871 (GRCm39) |
Q350K |
possibly damaging |
Het |
| Cep78 |
A |
G |
19: 15,933,727 (GRCm39) |
L617P |
probably damaging |
Het |
| Cnbd2 |
T |
G |
2: 156,170,281 (GRCm39) |
V122G |
probably damaging |
Het |
| Crem |
A |
T |
18: 3,288,007 (GRCm39) |
N158K |
possibly damaging |
Het |
| Cul1 |
T |
C |
6: 47,472,027 (GRCm39) |
V56A |
possibly damaging |
Het |
| Dop1b |
T |
A |
16: 93,546,827 (GRCm39) |
I277N |
possibly damaging |
Het |
| Exoc3 |
T |
C |
13: 74,340,784 (GRCm39) |
D340G |
probably benign |
Het |
| Exoc6b |
A |
C |
6: 84,885,176 (GRCm39) |
D254E |
probably benign |
Het |
| Fyttd1 |
A |
G |
16: 32,722,862 (GRCm39) |
K268E |
probably damaging |
Het |
| Gbp8 |
T |
A |
5: 105,178,844 (GRCm39) |
N157I |
probably benign |
Het |
| Hacd1 |
T |
A |
2: 14,049,605 (GRCm39) |
S118C |
probably damaging |
Het |
| Hcn4 |
A |
C |
9: 58,731,027 (GRCm39) |
E78A |
unknown |
Het |
| Inpp5e |
T |
A |
2: 26,289,274 (GRCm39) |
T549S |
probably benign |
Het |
| Kcnh4 |
T |
C |
11: 100,646,105 (GRCm39) |
N281S |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,552,864 (GRCm39) |
D1280G |
probably benign |
Het |
| Lrfn3 |
A |
G |
7: 30,059,304 (GRCm39) |
V307A |
probably benign |
Het |
| Mafb |
A |
G |
2: 160,208,298 (GRCm39) |
L100P |
probably damaging |
Het |
| Med24 |
C |
T |
11: 98,608,940 (GRCm39) |
G119R |
probably benign |
Het |
| Mvp |
G |
T |
7: 126,586,171 (GRCm39) |
P866Q |
probably benign |
Het |
| Or51l4 |
A |
G |
7: 103,404,510 (GRCm39) |
I94T |
probably damaging |
Het |
| Phykpl |
T |
C |
11: 51,476,408 (GRCm39) |
Y43H |
probably damaging |
Het |
| Prag1 |
T |
G |
8: 36,571,364 (GRCm39) |
L649R |
probably damaging |
Het |
| Ptgdr2 |
T |
C |
19: 10,918,361 (GRCm39) |
F293L |
probably damaging |
Het |
| Rasip1 |
T |
G |
7: 45,279,704 (GRCm39) |
S316A |
possibly damaging |
Het |
| Rlf |
G |
A |
4: 121,004,429 (GRCm39) |
S1627L |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,557,145 (GRCm39) |
R1565G |
probably benign |
Het |
| Sart3 |
G |
A |
5: 113,886,018 (GRCm39) |
T572M |
probably damaging |
Het |
| Sec24b |
G |
T |
3: 129,789,573 (GRCm39) |
S816* |
probably null |
Het |
| Slamf1 |
C |
T |
1: 171,619,887 (GRCm39) |
P279L |
probably benign |
Het |
| Slc18a1 |
C |
A |
8: 69,495,401 (GRCm39) |
V368F |
possibly damaging |
Het |
| Tap1 |
A |
T |
17: 34,408,206 (GRCm39) |
D194V |
probably damaging |
Het |
| Tuba1c |
A |
G |
15: 98,935,496 (GRCm39) |
Y319C |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,036,416 (GRCm39) |
I579N |
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 |
|
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 |
|
R9687:Zbtb22
|
UTSW |
17 |
34,136,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTGATGCTTTCAAAATGCTG -3'
(R):5'- GGAAATGGAAGTCATGCCTTTCAG -3'
Sequencing Primer
(F):5'- GTGATGCTTTCAAAATGCTGTTATTC -3'
(R):5'- GAAGTCATGCCTTTCAGTAGGACC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation