Incidental Mutation 'R7756:Zbtb4'
| ID |
597564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb4
|
| Ensembl Gene |
ENSMUSG00000018750 |
| Gene Name |
zinc finger and BTB domain containing 4 |
| Synonyms |
9230111I22Rik, 2310026P19Rik |
| MMRRC Submission |
045812-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7756 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69656738-69674849 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69669368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 697
(E697G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108638]
[ENSMUST00000108639]
[ENSMUST00000108640]
[ENSMUST00000108642]
[ENSMUST00000132528]
[ENSMUST00000153943]
[ENSMUST00000156932]
|
| AlphaFold |
Q5F293 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108638
|
| SMART Domains |
Protein: ENSMUSP00000104278
Gene: ENSMUSG00000018750
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
30 |
166 |
2e-15 |
SMART |
|
ZnF_C2H2
|
210 |
230 |
1.91e1 |
SMART |
|
low complexity region
|
240 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
274 |
283 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
285 |
307 |
1.53e-1 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
1.91e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108639
AA Change: E697G
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000104279
Gene: ENSMUSG00000018750
AA Change: E697G
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
30 |
166 |
2e-15 |
SMART |
|
ZnF_C2H2
|
210 |
230 |
1.91e1 |
SMART |
|
low complexity region
|
240 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
274 |
283 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
285 |
307 |
1.53e-1 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
1.91e1 |
SMART |
|
ZnF_C2H2
|
341 |
364 |
5.81e-2 |
SMART |
|
low complexity region
|
422 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
485 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
568 |
N/A |
INTRINSIC |
|
coiled coil region
|
601 |
637 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
662 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
673 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
700 |
722 |
3.78e-1 |
SMART |
|
ZnF_C2H2
|
739 |
761 |
6.23e-2 |
SMART |
|
low complexity region
|
799 |
820 |
N/A |
INTRINSIC |
|
low complexity region
|
947 |
961 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108640
AA Change: E697G
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000104280
Gene: ENSMUSG00000018750
AA Change: E697G
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
30 |
166 |
2e-15 |
SMART |
|
ZnF_C2H2
|
210 |
230 |
1.91e1 |
SMART |
|
low complexity region
|
240 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
274 |
283 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
285 |
307 |
1.53e-1 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
1.91e1 |
SMART |
|
ZnF_C2H2
|
341 |
364 |
5.81e-2 |
SMART |
|
low complexity region
|
422 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
485 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
568 |
N/A |
INTRINSIC |
|
coiled coil region
|
601 |
637 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
662 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
673 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
700 |
722 |
3.78e-1 |
SMART |
|
ZnF_C2H2
|
739 |
761 |
6.23e-2 |
SMART |
|
low complexity region
|
799 |
820 |
N/A |
INTRINSIC |
|
low complexity region
|
947 |
961 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108642
|
| SMART Domains |
Protein: ENSMUSP00000104282
Gene: ENSMUSG00000018750
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
30 |
166 |
2e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132528
|
| SMART Domains |
Protein: ENSMUSP00000121694
Gene: ENSMUSG00000018750
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
20 |
56 |
6.6e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153943
|
| SMART Domains |
Protein: ENSMUSP00000118027
Gene: ENSMUSG00000018750
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
20 |
51 |
5.6e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156932
|
| SMART Domains |
Protein: ENSMUSP00000115687
Gene: ENSMUSG00000018750
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
20 |
51 |
6e-8 |
PFAM |
|
low complexity region
|
68 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
136 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1695 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd60 |
T |
C |
2: 173,410,562 (GRCm39) |
*319W |
probably null |
Het |
| Bpnt2 |
A |
T |
4: 4,769,385 (GRCm39) |
H243Q |
probably damaging |
Het |
| Brd4 |
A |
G |
17: 32,417,956 (GRCm39) |
I1157T |
unknown |
Het |
| Btbd2 |
T |
C |
10: 80,484,440 (GRCm39) |
I159V |
probably benign |
Het |
| Card6 |
G |
A |
15: 5,129,378 (GRCm39) |
Q673* |
probably null |
Het |
| Cdyl |
T |
A |
13: 36,056,624 (GRCm39) |
Y585N |
probably damaging |
Het |
| Cep192 |
A |
C |
18: 67,989,384 (GRCm39) |
I1844L |
possibly damaging |
Het |
| Cfap99 |
G |
T |
5: 34,459,952 (GRCm39) |
C105F |
probably damaging |
Het |
| Clcn6 |
T |
C |
4: 148,113,896 (GRCm39) |
D54G |
probably damaging |
Het |
| Dennd5a |
T |
C |
7: 109,520,714 (GRCm39) |
N381S |
possibly damaging |
Het |
| Disp1 |
A |
C |
1: 182,871,298 (GRCm39) |
V374G |
probably damaging |
Het |
| Dock4 |
C |
T |
12: 40,760,878 (GRCm39) |
T522I |
probably benign |
Het |
| Fcer1a |
A |
G |
1: 173,049,142 (GRCm39) |
L223P |
probably damaging |
Het |
| Fstl4 |
C |
A |
11: 53,059,123 (GRCm39) |
D527E |
possibly damaging |
Het |
| Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
| Gm5460 |
A |
T |
14: 33,757,114 (GRCm39) |
T64S |
probably benign |
Het |
| Gys1 |
T |
C |
7: 45,097,726 (GRCm39) |
V491A |
probably benign |
Het |
| Hoxa9 |
A |
T |
6: 52,202,542 (GRCm39) |
N181K |
probably benign |
Het |
| Ift81 |
A |
T |
5: 122,689,088 (GRCm39) |
L676H |
probably damaging |
Het |
| Inava |
A |
G |
1: 136,144,171 (GRCm39) |
S422P |
probably benign |
Het |
| Itga1 |
T |
A |
13: 115,128,996 (GRCm39) |
D554V |
probably benign |
Het |
| Lin7c |
T |
A |
2: 109,726,717 (GRCm39) |
I122K |
probably damaging |
Het |
| Malt1 |
A |
G |
18: 65,606,190 (GRCm39) |
I622V |
probably benign |
Het |
| Megf8 |
T |
C |
7: 25,041,850 (GRCm39) |
|
probably null |
Het |
| Morc2b |
A |
G |
17: 33,355,981 (GRCm39) |
V597A |
probably damaging |
Het |
| Nr1h5 |
T |
C |
3: 102,856,925 (GRCm39) |
I196V |
probably benign |
Het |
| Or10d4 |
T |
C |
9: 39,580,371 (GRCm39) |
M6T |
probably benign |
Het |
| Or2a20 |
T |
A |
6: 43,193,950 (GRCm39) |
Y34* |
probably null |
Het |
| Or8g2 |
T |
G |
9: 39,821,621 (GRCm39) |
I174S |
possibly damaging |
Het |
| Pdlim1 |
G |
A |
19: 40,231,986 (GRCm39) |
P131S |
probably benign |
Het |
| Plekhh1 |
T |
C |
12: 79,117,578 (GRCm39) |
I858T |
probably benign |
Het |
| Pls1 |
T |
C |
9: 95,658,897 (GRCm39) |
N197S |
probably benign |
Het |
| Pnma8a |
A |
T |
7: 16,695,224 (GRCm39) |
T360S |
probably benign |
Het |
| Pon1 |
A |
T |
6: 5,168,344 (GRCm39) |
D354E |
probably benign |
Het |
| Rbp3 |
G |
A |
14: 33,676,732 (GRCm39) |
V227M |
probably benign |
Het |
| Shcbp1 |
T |
C |
8: 4,794,545 (GRCm39) |
K416R |
probably damaging |
Het |
| Slc20a2 |
T |
G |
8: 23,025,508 (GRCm39) |
I70S |
probably damaging |
Het |
| Slc7a11 |
A |
G |
3: 50,326,809 (GRCm39) |
I484T |
probably benign |
Het |
| Snrpa |
A |
G |
7: 26,892,371 (GRCm39) |
V63A |
possibly damaging |
Het |
| Stat2 |
CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC |
CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC |
10: 128,126,597 (GRCm39) |
|
probably benign |
Het |
| Strc |
T |
C |
2: 121,201,427 (GRCm39) |
E1259G |
probably benign |
Het |
| Suds3 |
T |
G |
5: 117,253,802 (GRCm39) |
D26A |
unknown |
Het |
| Tnrc18 |
A |
G |
5: 142,772,907 (GRCm39) |
S641P |
|
Het |
| Tspan32 |
A |
G |
7: 142,570,959 (GRCm39) |
N189D |
probably benign |
Het |
| Unc13b |
CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
4: 43,177,312 (GRCm39) |
|
probably benign |
Het |
| Usp40 |
G |
T |
1: 87,894,922 (GRCm39) |
T866K |
probably damaging |
Het |
| Vmn1r220 |
G |
A |
13: 23,367,877 (GRCm39) |
T273I |
probably benign |
Het |
| Yes1 |
C |
T |
5: 32,842,024 (GRCm39) |
T516I |
probably damaging |
Het |
| Zfp994 |
T |
C |
17: 22,419,828 (GRCm39) |
T374A |
possibly damaging |
Het |
|
| Other mutations in Zbtb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00592:Zbtb4
|
APN |
11 |
69,667,557 (GRCm39) |
nonsense |
probably null |
|
|
IGL02178:Zbtb4
|
APN |
11 |
69,667,255 (GRCm39) |
nonsense |
probably null |
|
|
R0092:Zbtb4
|
UTSW |
11 |
69,670,177 (GRCm39) |
missense |
probably benign |
|
|
R0403:Zbtb4
|
UTSW |
11 |
69,668,465 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1276:Zbtb4
|
UTSW |
11 |
69,667,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1654:Zbtb4
|
UTSW |
11 |
69,669,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1734:Zbtb4
|
UTSW |
11 |
69,667,289 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1762:Zbtb4
|
UTSW |
11 |
69,669,743 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2224:Zbtb4
|
UTSW |
11 |
69,667,184 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2930:Zbtb4
|
UTSW |
11 |
69,667,342 (GRCm39) |
nonsense |
probably null |
|
|
R4670:Zbtb4
|
UTSW |
11 |
69,667,355 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4998:Zbtb4
|
UTSW |
11 |
69,669,497 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5956:Zbtb4
|
UTSW |
11 |
69,669,040 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5988:Zbtb4
|
UTSW |
11 |
69,669,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6115:Zbtb4
|
UTSW |
11 |
69,667,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6237:Zbtb4
|
UTSW |
11 |
69,669,069 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6803:Zbtb4
|
UTSW |
11 |
69,669,454 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7395:Zbtb4
|
UTSW |
11 |
69,666,937 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7758:Zbtb4
|
UTSW |
11 |
69,669,368 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7877:Zbtb4
|
UTSW |
11 |
69,666,863 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8215:Zbtb4
|
UTSW |
11 |
69,669,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8306:Zbtb4
|
UTSW |
11 |
69,668,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8407:Zbtb4
|
UTSW |
11 |
69,669,101 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8690:Zbtb4
|
UTSW |
11 |
69,667,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8785:Zbtb4
|
UTSW |
11 |
69,668,989 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9032:Zbtb4
|
UTSW |
11 |
69,672,650 (GRCm39) |
missense |
probably benign |
|
|
R9674:Zbtb4
|
UTSW |
11 |
69,669,973 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGAGGGGAAGATCAGCTTTG -3'
(R):5'- GTTCCACAGCATGCCTTTGC -3'
Sequencing Primer
(F):5'- GATCAGCTTTGGAGACCCTAC -3'
(R):5'- ACAGCATGCCTTTGCCCATG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation