Incidental Mutation 'R0048:Zbtb38'
| ID |
15986 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb38
|
| Ensembl Gene |
ENSMUSG00000040433 |
| Gene Name |
zinc finger and BTB domain containing 38 |
| Synonyms |
A930014K01Rik, Zenon homolog, CIBZ |
| MMRRC Submission |
038342-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.530)
|
| Stock # |
R0048 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
96564820-96613728 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 96569729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 452
(V452M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121753
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093798]
[ENSMUST00000126066]
[ENSMUST00000128269]
[ENSMUST00000140121]
[ENSMUST00000152594]
|
| AlphaFold |
Q3LR78 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093798
AA Change: V452M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091315
Gene: ENSMUSG00000040433
AA Change: V452M
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
131 |
5.68e-20 |
SMART |
|
low complexity region
|
140 |
151 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
340 |
362 |
7.67e-2 |
SMART |
|
ZnF_C2H2
|
369 |
396 |
7.29e0 |
SMART |
|
low complexity region
|
435 |
446 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
458 |
480 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
486 |
508 |
1.05e1 |
SMART |
|
ZnF_C2H2
|
514 |
537 |
8.09e-1 |
SMART |
|
low complexity region
|
911 |
935 |
N/A |
INTRINSIC |
|
low complexity region
|
994 |
1002 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1013 |
1035 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
1041 |
1063 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
1069 |
1091 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
1097 |
1119 |
1.02e1 |
SMART |
|
ZnF_C2H2
|
1128 |
1150 |
1.67e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126066
AA Change: V452M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114300
Gene: ENSMUSG00000040433
AA Change: V452M
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
131 |
5.68e-20 |
SMART |
|
low complexity region
|
140 |
151 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
340 |
362 |
7.67e-2 |
SMART |
|
ZnF_C2H2
|
369 |
396 |
7.29e0 |
SMART |
|
low complexity region
|
435 |
446 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
458 |
480 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
486 |
508 |
1.05e1 |
SMART |
|
ZnF_C2H2
|
514 |
537 |
8.09e-1 |
SMART |
|
low complexity region
|
911 |
926 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128269
|
| SMART Domains |
Protein: ENSMUSP00000121871
Gene: ENSMUSG00000040433
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
131 |
5.68e-20 |
SMART |
|
low complexity region
|
140 |
151 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140121
AA Change: V452M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120040
Gene: ENSMUSG00000040433
AA Change: V452M
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
131 |
5.68e-20 |
SMART |
|
low complexity region
|
140 |
151 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
340 |
362 |
7.67e-2 |
SMART |
|
ZnF_C2H2
|
369 |
396 |
7.29e0 |
SMART |
|
low complexity region
|
435 |
446 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
458 |
480 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
486 |
508 |
1.05e1 |
SMART |
|
ZnF_C2H2
|
514 |
537 |
8.09e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152594
AA Change: V452M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121753
Gene: ENSMUSG00000040433
AA Change: V452M
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
131 |
5.68e-20 |
SMART |
|
low complexity region
|
140 |
151 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
340 |
362 |
7.67e-2 |
SMART |
|
ZnF_C2H2
|
369 |
396 |
7.29e0 |
SMART |
|
low complexity region
|
435 |
446 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
458 |
480 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
486 |
508 |
1.05e1 |
SMART |
|
ZnF_C2H2
|
514 |
537 |
8.09e-1 |
SMART |
|
low complexity region
|
911 |
935 |
N/A |
INTRINSIC |
|
low complexity region
|
994 |
1002 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1013 |
1035 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
1041 |
1063 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
1069 |
1091 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
1097 |
1119 |
1.02e1 |
SMART |
|
ZnF_C2H2
|
1128 |
1150 |
1.67e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 90.1%
- 3x: 87.7%
- 10x: 82.5%
- 20x: 75.5%
|
| Validation Efficiency |
94% (92/98) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger transcriptional activator that binds methylated DNA. The encoded protein can form homodimers or heterodimers through the zinc finger domains. In mouse, inhibition of this protein has been associated with apoptosis in some cell types. [provided by RefSeq, Jun 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
A |
G |
1: 25,140,563 (GRCm39) |
I299T |
probably benign |
Het |
| Ankrd12 |
A |
G |
17: 66,291,798 (GRCm39) |
S1212P |
probably damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,537,198 (GRCm39) |
S52P |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,112,371 (GRCm39) |
E715G |
probably damaging |
Het |
| Arid1b |
T |
C |
17: 5,364,309 (GRCm39) |
|
probably null |
Het |
| Brca1 |
A |
G |
11: 101,415,803 (GRCm39) |
V777A |
possibly damaging |
Het |
| Btaf1 |
G |
T |
19: 36,980,924 (GRCm39) |
A1582S |
probably benign |
Het |
| Cblif |
G |
A |
19: 11,727,120 (GRCm39) |
V110M |
possibly damaging |
Het |
| Ccdc184 |
G |
A |
15: 98,066,341 (GRCm39) |
A49T |
probably damaging |
Het |
| Cd109 |
A |
C |
9: 78,587,303 (GRCm39) |
Y657S |
possibly damaging |
Het |
| Cfap53 |
A |
T |
18: 74,432,244 (GRCm39) |
Y44F |
probably benign |
Het |
| Cped1 |
T |
A |
6: 22,119,601 (GRCm39) |
N353K |
probably benign |
Het |
| Dcaf10 |
T |
G |
4: 45,374,262 (GRCm39) |
Y562* |
probably null |
Het |
| Eno4 |
T |
C |
19: 58,952,970 (GRCm39) |
M328T |
possibly damaging |
Het |
| Etv3l |
T |
C |
3: 87,462,275 (GRCm39) |
|
noncoding transcript |
Het |
| Eya2 |
T |
A |
2: 165,557,931 (GRCm39) |
Y176N |
probably damaging |
Het |
| Fat2 |
G |
T |
11: 55,200,865 (GRCm39) |
H736Q |
probably benign |
Het |
| Fgfr2 |
A |
T |
7: 129,782,218 (GRCm39) |
|
probably benign |
Het |
| Grhl1 |
A |
T |
12: 24,662,150 (GRCm39) |
|
probably benign |
Het |
| H60b |
T |
A |
10: 22,163,130 (GRCm39) |
M235K |
probably benign |
Het |
| Hal |
T |
A |
10: 93,334,853 (GRCm39) |
Y395N |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,318,249 (GRCm39) |
S3865P |
possibly damaging |
Het |
| Inpp5j |
A |
G |
11: 3,451,417 (GRCm39) |
V463A |
probably damaging |
Het |
| Iqgap3 |
A |
T |
3: 88,023,256 (GRCm39) |
T516S |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,133,789 (GRCm39) |
|
probably null |
Het |
| Jmjd4 |
C |
A |
11: 59,344,778 (GRCm39) |
H244N |
probably benign |
Het |
| Klkb1 |
G |
A |
8: 45,742,233 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
A |
T |
18: 77,496,474 (GRCm39) |
Y1578F |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,295,971 (GRCm39) |
D3379E |
probably damaging |
Het |
| Lrrfip1 |
C |
T |
1: 91,021,369 (GRCm39) |
|
probably benign |
Het |
| Mblac1 |
A |
G |
5: 138,192,727 (GRCm39) |
Y23C |
probably damaging |
Het |
| Mfsd12 |
G |
A |
10: 81,198,648 (GRCm39) |
V380I |
possibly damaging |
Het |
| Mroh9 |
G |
A |
1: 162,890,056 (GRCm39) |
T227M |
probably damaging |
Het |
| Mtor |
C |
T |
4: 148,623,338 (GRCm39) |
Q2063* |
probably null |
Het |
| Ncstn |
A |
G |
1: 171,897,528 (GRCm39) |
|
probably benign |
Het |
| Nek9 |
T |
C |
12: 85,348,673 (GRCm39) |
T954A |
probably benign |
Het |
| Nlrc5 |
A |
T |
8: 95,201,284 (GRCm39) |
Y126F |
possibly damaging |
Het |
| Nr1d1 |
A |
G |
11: 98,661,304 (GRCm39) |
S321P |
probably benign |
Het |
| Or13c3 |
C |
A |
4: 52,856,196 (GRCm39) |
A106S |
probably damaging |
Het |
| Pkn2 |
T |
C |
3: 142,516,588 (GRCm39) |
I513V |
probably damaging |
Het |
| Pls1 |
T |
C |
9: 95,669,116 (GRCm39) |
E35G |
probably damaging |
Het |
| Polr3a |
A |
G |
14: 24,519,323 (GRCm39) |
|
probably benign |
Het |
| Ptgfr |
A |
G |
3: 151,540,728 (GRCm39) |
V260A |
possibly damaging |
Het |
| Rabgap1l |
A |
G |
1: 160,454,939 (GRCm39) |
|
probably benign |
Het |
| Raph1 |
T |
C |
1: 60,539,764 (GRCm39) |
K423E |
probably benign |
Het |
| Rbm27 |
A |
G |
18: 42,431,529 (GRCm39) |
D112G |
probably benign |
Het |
| Rbm46 |
A |
T |
3: 82,771,537 (GRCm39) |
S359R |
probably damaging |
Het |
| Rhobtb3 |
A |
T |
13: 76,050,364 (GRCm39) |
*100R |
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,610,670 (GRCm39) |
E4052G |
probably damaging |
Het |
| Sart3 |
G |
T |
5: 113,893,458 (GRCm39) |
D346E |
possibly damaging |
Het |
| Sgsm1 |
A |
G |
5: 113,416,616 (GRCm39) |
F629S |
probably damaging |
Het |
| Siglec1 |
T |
C |
2: 130,915,317 (GRCm39) |
T1425A |
possibly damaging |
Het |
| Slc12a2 |
A |
T |
18: 58,048,594 (GRCm39) |
|
probably benign |
Het |
| Slc38a10 |
G |
T |
11: 120,001,138 (GRCm39) |
P561T |
probably benign |
Het |
| Slc45a4 |
A |
G |
15: 73,477,285 (GRCm39) |
|
probably benign |
Het |
| Snx25 |
A |
T |
8: 46,558,146 (GRCm39) |
|
probably benign |
Het |
| Son |
T |
A |
16: 91,455,865 (GRCm39) |
H1537Q |
possibly damaging |
Het |
| Synpo2l |
A |
T |
14: 20,716,340 (GRCm39) |
|
probably benign |
Het |
| Tarbp1 |
A |
G |
8: 127,174,269 (GRCm39) |
Y846H |
probably damaging |
Het |
| Tgfb1 |
T |
A |
7: 25,393,779 (GRCm39) |
|
probably benign |
Het |
| Tigd2 |
C |
A |
6: 59,188,369 (GRCm39) |
T412K |
possibly damaging |
Het |
| Umodl1 |
A |
T |
17: 31,187,451 (GRCm39) |
N172Y |
probably damaging |
Het |
| Urah |
C |
T |
7: 140,416,665 (GRCm39) |
T46I |
probably damaging |
Het |
| Usp8 |
C |
T |
2: 126,579,809 (GRCm39) |
P353L |
probably damaging |
Het |
| Vamp2 |
A |
G |
11: 68,980,585 (GRCm39) |
D51G |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,653,504 (GRCm39) |
V1959E |
probably damaging |
Het |
| Wdr76 |
C |
T |
2: 121,365,900 (GRCm39) |
|
probably benign |
Het |
| Zbtb41 |
A |
G |
1: 139,369,572 (GRCm39) |
K650E |
probably damaging |
Het |
| Zfp532 |
A |
G |
18: 65,777,404 (GRCm39) |
Y887C |
probably damaging |
Het |
|
| Other mutations in Zbtb38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Zbtb38
|
APN |
9 |
96,569,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01895:Zbtb38
|
APN |
9 |
96,570,461 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02513:Zbtb38
|
APN |
9 |
96,569,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02649:Zbtb38
|
APN |
9 |
96,568,672 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02938:Zbtb38
|
APN |
9 |
96,569,227 (GRCm39) |
missense |
probably benign |
0.11 |
|
PIT4131001:Zbtb38
|
UTSW |
9 |
96,568,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0152:Zbtb38
|
UTSW |
9 |
96,568,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0158:Zbtb38
|
UTSW |
9 |
96,568,993 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0519:Zbtb38
|
UTSW |
9 |
96,567,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0594:Zbtb38
|
UTSW |
9 |
96,568,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1556:Zbtb38
|
UTSW |
9 |
96,569,044 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1698:Zbtb38
|
UTSW |
9 |
96,567,515 (GRCm39) |
missense |
probably benign |
|
|
R1772:Zbtb38
|
UTSW |
9 |
96,570,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1799:Zbtb38
|
UTSW |
9 |
96,570,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1837:Zbtb38
|
UTSW |
9 |
96,569,048 (GRCm39) |
missense |
probably benign |
|
|
R2446:Zbtb38
|
UTSW |
9 |
96,569,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3153:Zbtb38
|
UTSW |
9 |
96,570,302 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3950:Zbtb38
|
UTSW |
9 |
96,569,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4240:Zbtb38
|
UTSW |
9 |
96,568,155 (GRCm39) |
small deletion |
probably benign |
|
|
R4630:Zbtb38
|
UTSW |
9 |
96,570,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4666:Zbtb38
|
UTSW |
9 |
96,570,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Zbtb38
|
UTSW |
9 |
96,569,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Zbtb38
|
UTSW |
9 |
96,569,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4824:Zbtb38
|
UTSW |
9 |
96,570,254 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5006:Zbtb38
|
UTSW |
9 |
96,567,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5109:Zbtb38
|
UTSW |
9 |
96,569,062 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5251:Zbtb38
|
UTSW |
9 |
96,569,161 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5396:Zbtb38
|
UTSW |
9 |
96,569,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5659:Zbtb38
|
UTSW |
9 |
96,569,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6249:Zbtb38
|
UTSW |
9 |
96,568,045 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6294:Zbtb38
|
UTSW |
9 |
96,569,282 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6615:Zbtb38
|
UTSW |
9 |
96,568,707 (GRCm39) |
nonsense |
probably null |
|
|
R6625:Zbtb38
|
UTSW |
9 |
96,569,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6885:Zbtb38
|
UTSW |
9 |
96,568,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7304:Zbtb38
|
UTSW |
9 |
96,569,480 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7675:Zbtb38
|
UTSW |
9 |
96,567,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7823:Zbtb38
|
UTSW |
9 |
96,568,029 (GRCm39) |
nonsense |
probably null |
|
|
R7900:Zbtb38
|
UTSW |
9 |
96,570,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8077:Zbtb38
|
UTSW |
9 |
96,570,153 (GRCm39) |
missense |
probably benign |
|
|
R8432:Zbtb38
|
UTSW |
9 |
96,568,291 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8802:Zbtb38
|
UTSW |
9 |
96,567,623 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8930:Zbtb38
|
UTSW |
9 |
96,568,434 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8932:Zbtb38
|
UTSW |
9 |
96,568,434 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9008:Zbtb38
|
UTSW |
9 |
96,569,100 (GRCm39) |
missense |
probably benign |
|
|
R9347:Zbtb38
|
UTSW |
9 |
96,567,649 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9520:Zbtb38
|
UTSW |
9 |
96,568,104 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9568:Zbtb38
|
UTSW |
9 |
96,570,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9680:Zbtb38
|
UTSW |
9 |
96,570,397 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9777:Zbtb38
|
UTSW |
9 |
96,570,356 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9777:Zbtb38
|
UTSW |
9 |
96,570,355 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9790:Zbtb38
|
UTSW |
9 |
96,570,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9791:Zbtb38
|
UTSW |
9 |
96,570,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Zbtb38
|
UTSW |
9 |
96,569,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-01-08 |
Incidental Mutation