Incidental Mutation 'R3755:Zbtb7a'
| ID |
271400 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb7a
|
| Ensembl Gene |
ENSMUSG00000035011 |
| Gene Name |
zinc finger and BTB domain containing 7a |
| Synonyms |
Zbtb7, 9130006G12Rik, Lrf, 9030619K07Rik, FBI-1, Leukemia/lymphoma Related Factor, Pokemon |
| MMRRC Submission |
040738-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3755 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
80971113-80988056 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 80980100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 98
(T98M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114470
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048128]
[ENSMUST00000117956]
[ENSMUST00000119606]
[ENSMUST00000121840]
[ENSMUST00000125261]
[ENSMUST00000146895]
|
| AlphaFold |
O88939 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048128
AA Change: T98M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047333
Gene: ENSMUSG00000035011
AA Change: T98M
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
34 |
131 |
5.01e-30 |
SMART |
|
low complexity region
|
195 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
215 |
232 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
314 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
376 |
398 |
7.55e-1 |
SMART |
|
ZnF_C2H2
|
404 |
426 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
432 |
454 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
460 |
480 |
5.4e1 |
SMART |
|
low complexity region
|
486 |
519 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
546 |
563 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117956
AA Change: T98M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113428
Gene: ENSMUSG00000035011
AA Change: T98M
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
34 |
131 |
5.01e-30 |
SMART |
|
low complexity region
|
195 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
215 |
232 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
314 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
376 |
398 |
7.55e-1 |
SMART |
|
ZnF_C2H2
|
404 |
426 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
432 |
454 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
460 |
480 |
5.4e1 |
SMART |
|
low complexity region
|
486 |
519 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
546 |
563 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119606
AA Change: T98M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113612
Gene: ENSMUSG00000035011
AA Change: T98M
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
34 |
131 |
5.01e-30 |
SMART |
|
low complexity region
|
195 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
215 |
232 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
314 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
376 |
398 |
7.55e-1 |
SMART |
|
ZnF_C2H2
|
404 |
426 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
432 |
454 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
460 |
480 |
5.4e1 |
SMART |
|
low complexity region
|
486 |
519 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
546 |
563 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121840
AA Change: T98M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113787
Gene: ENSMUSG00000035011
AA Change: T98M
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
34 |
131 |
5.01e-30 |
SMART |
|
low complexity region
|
195 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
215 |
232 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
314 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
376 |
398 |
7.55e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125261
AA Change: T98M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114470
Gene: ENSMUSG00000035011
AA Change: T98M
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
34 |
131 |
5.01e-30 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146895
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
96% (50/52) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele die around E16.5 due to anemia and exhibit a cell autonomous defect in early B cell development. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(58) : Targeted, knock-out(1) Targeted, other(3) Gene trapped(54) |
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
C |
A |
10: 29,098,110 (GRCm39) |
S169Y |
probably damaging |
Het |
| Abcb1a |
G |
A |
5: 8,797,403 (GRCm39) |
V1225M |
possibly damaging |
Het |
| Adamdec1 |
A |
T |
14: 68,814,587 (GRCm39) |
I130N |
probably damaging |
Het |
| Atf7ip |
T |
A |
6: 136,537,815 (GRCm39) |
N357K |
probably benign |
Het |
| Bace2 |
C |
G |
16: 97,237,857 (GRCm39) |
T436R |
probably benign |
Het |
| Capn13 |
G |
A |
17: 73,638,114 (GRCm39) |
Q430* |
probably null |
Het |
| Ccdc30 |
A |
T |
4: 119,225,005 (GRCm39) |
|
probably null |
Het |
| Ces5a |
T |
C |
8: 94,255,130 (GRCm39) |
T184A |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,411,594 (GRCm39) |
C493R |
possibly damaging |
Het |
| Creb3l2 |
A |
T |
6: 37,340,961 (GRCm39) |
I146N |
possibly damaging |
Het |
| Erich3 |
A |
G |
3: 154,469,958 (GRCm39) |
|
probably benign |
Het |
| Etl4 |
G |
A |
2: 20,748,348 (GRCm39) |
V27I |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,808,561 (GRCm39) |
D1627N |
probably benign |
Het |
| Gcdh |
A |
G |
8: 85,620,109 (GRCm39) |
|
probably benign |
Het |
| Kcna7 |
T |
C |
7: 45,058,369 (GRCm39) |
F219L |
probably benign |
Het |
| Kdm3b |
T |
C |
18: 34,941,349 (GRCm39) |
L280S |
probably benign |
Het |
| Knl1 |
T |
A |
2: 118,933,060 (GRCm39) |
V2073D |
probably damaging |
Het |
| Kprp |
A |
G |
3: 92,732,346 (GRCm39) |
S235P |
unknown |
Het |
| Lpp |
A |
G |
16: 24,663,911 (GRCm39) |
H396R |
probably benign |
Het |
| Lrch4 |
T |
A |
5: 137,635,992 (GRCm39) |
D348E |
probably damaging |
Het |
| Mcm9 |
T |
C |
10: 53,502,048 (GRCm39) |
N179S |
probably benign |
Het |
| Mettl13 |
T |
C |
1: 162,371,789 (GRCm39) |
E360G |
probably damaging |
Het |
| Nfib |
A |
T |
4: 82,241,936 (GRCm39) |
S418R |
probably damaging |
Het |
| Or52b1 |
A |
G |
7: 104,979,358 (GRCm39) |
F14L |
probably damaging |
Het |
| Or8s2 |
A |
C |
15: 98,276,463 (GRCm39) |
I176S |
probably benign |
Het |
| Pcdha8 |
G |
A |
18: 37,126,741 (GRCm39) |
V408M |
probably damaging |
Het |
| Pcdhb3 |
T |
C |
18: 37,435,878 (GRCm39) |
F615L |
probably damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,359,171 (GRCm39) |
T844I |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,452,802 (GRCm39) |
E3909V |
probably damaging |
Het |
| Poldip3 |
A |
G |
15: 83,015,676 (GRCm39) |
|
probably benign |
Het |
| Ptpn1 |
T |
C |
2: 167,816,143 (GRCm39) |
I219T |
probably damaging |
Het |
| Rad18 |
T |
C |
6: 112,670,432 (GRCm39) |
N44S |
probably damaging |
Het |
| Reep5 |
T |
C |
18: 34,505,527 (GRCm39) |
Y48C |
probably damaging |
Het |
| Rgl2 |
C |
A |
17: 34,151,571 (GRCm39) |
A205D |
probably benign |
Het |
| Rundc3a |
A |
G |
11: 102,290,085 (GRCm39) |
I175V |
possibly damaging |
Het |
| Slamf1 |
C |
T |
1: 171,604,728 (GRCm39) |
A166V |
probably damaging |
Het |
| Slc4a5 |
A |
G |
6: 83,265,285 (GRCm39) |
D693G |
probably benign |
Het |
| Snap23 |
T |
A |
2: 120,416,726 (GRCm39) |
C79S |
probably damaging |
Het |
| Spag6l |
A |
C |
16: 16,580,884 (GRCm39) |
|
probably null |
Het |
| Trappc13 |
C |
T |
13: 104,305,068 (GRCm39) |
D40N |
probably benign |
Het |
| Trav4-3 |
C |
A |
14: 53,836,596 (GRCm39) |
S20R |
probably benign |
Het |
| Tssk2 |
G |
A |
16: 17,716,827 (GRCm39) |
E77K |
probably damaging |
Het |
| Ubap2 |
A |
G |
4: 41,195,482 (GRCm39) |
F1051S |
probably damaging |
Het |
| Ugt3a1 |
A |
G |
15: 9,367,498 (GRCm39) |
T414A |
probably benign |
Het |
| Urod |
C |
T |
4: 116,850,601 (GRCm39) |
C66Y |
probably damaging |
Het |
| Vmn1r234 |
A |
G |
17: 21,449,271 (GRCm39) |
K62E |
probably damaging |
Het |
| Wiz |
A |
G |
17: 32,578,106 (GRCm39) |
S460P |
probably damaging |
Het |
| Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
| Zfp524 |
C |
A |
7: 5,020,884 (GRCm39) |
H137Q |
probably damaging |
Het |
|
| Other mutations in Zbtb7a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02937:Zbtb7a
|
APN |
10 |
80,980,132 (GRCm39) |
missense |
probably benign |
0.30 |
|
Bushel
|
UTSW |
10 |
80,984,163 (GRCm39) |
missense |
probably benign |
0.01 |
|
dram
|
UTSW |
10 |
80,980,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Gallon
|
UTSW |
10 |
80,980,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
peck
|
UTSW |
10 |
80,979,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
D6062:Zbtb7a
|
UTSW |
10 |
80,980,192 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0529:Zbtb7a
|
UTSW |
10 |
80,979,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0562:Zbtb7a
|
UTSW |
10 |
80,984,163 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2045:Zbtb7a
|
UTSW |
10 |
80,980,244 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2275:Zbtb7a
|
UTSW |
10 |
80,980,831 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3883:Zbtb7a
|
UTSW |
10 |
80,983,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4723:Zbtb7a
|
UTSW |
10 |
80,980,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5503:Zbtb7a
|
UTSW |
10 |
80,980,631 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5650:Zbtb7a
|
UTSW |
10 |
80,980,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6872:Zbtb7a
|
UTSW |
10 |
80,983,905 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7196:Zbtb7a
|
UTSW |
10 |
80,980,434 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7558:Zbtb7a
|
UTSW |
10 |
80,984,269 (GRCm39) |
makesense |
probably null |
|
|
R7602:Zbtb7a
|
UTSW |
10 |
80,980,010 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8220:Zbtb7a
|
UTSW |
10 |
80,980,838 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8317:Zbtb7a
|
UTSW |
10 |
80,980,784 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8552:Zbtb7a
|
UTSW |
10 |
80,980,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8930:Zbtb7a
|
UTSW |
10 |
80,980,368 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8932:Zbtb7a
|
UTSW |
10 |
80,980,368 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9782:Zbtb7a
|
UTSW |
10 |
80,979,910 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9792:Zbtb7a
|
UTSW |
10 |
80,980,378 (GRCm39) |
missense |
probably benign |
0.26 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGAGATTATCCCCTACGCTG -3'
(R):5'- TGCGGAAGAACTCCAGGTAC -3'
Sequencing Primer
(F):5'- GAGATTATCCCCTACGCTGACTGC -3'
(R):5'- GGAAGAACTCCAGGTACTCCTTG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation