Incidental Mutation 'R5650:Zbtb7a'
| ID |
441376 |
| 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 |
043296-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5650 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
80971113-80988056 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80980883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 359
(Y359C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113787
(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: Y359C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000047333
Gene: ENSMUSG00000035011
AA Change: Y359C
| 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: Y359C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113428
Gene: ENSMUSG00000035011
AA Change: Y359C
| 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: Y359C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113612
Gene: ENSMUSG00000035011
AA Change: Y359C
| 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: Y359C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113787
Gene: ENSMUSG00000035011
AA Change: Y359C
| 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 benign
Transcript: ENSMUST00000125261
|
| SMART Domains |
Protein: ENSMUSP00000114470
Gene: ENSMUSG00000035011
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
34 |
131 |
5.01e-30 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146895
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
T |
C |
6: 85,597,253 (GRCm39) |
L693P |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,614,136 (GRCm39) |
T2524A |
probably damaging |
Het |
| Cdr2 |
A |
G |
7: 120,557,559 (GRCm39) |
I322T |
probably damaging |
Het |
| Cep76 |
A |
T |
18: 67,758,136 (GRCm39) |
C385S |
probably damaging |
Het |
| Cercam |
C |
T |
2: 29,771,827 (GRCm39) |
S549F |
probably damaging |
Het |
| Coro1b |
C |
T |
19: 4,200,610 (GRCm39) |
T209I |
possibly damaging |
Het |
| Dlec1 |
G |
T |
9: 118,972,662 (GRCm39) |
E1462* |
probably null |
Het |
| Dlgap5 |
C |
T |
14: 47,649,196 (GRCm39) |
G166D |
probably benign |
Het |
| Ep400 |
C |
T |
5: 110,843,818 (GRCm39) |
|
probably null |
Het |
| Fam3d |
A |
T |
14: 8,357,142 (GRCm38) |
V96E |
probably damaging |
Het |
| Fgr |
T |
G |
4: 132,727,533 (GRCm39) |
V478G |
probably benign |
Het |
| Fmo9 |
T |
A |
1: 166,491,015 (GRCm39) |
I437F |
probably damaging |
Het |
| Gabrd |
A |
T |
4: 155,473,081 (GRCm39) |
V64E |
probably damaging |
Het |
| Gsap |
A |
G |
5: 21,456,051 (GRCm39) |
Y385C |
probably damaging |
Het |
| H4c4 |
A |
T |
13: 23,765,778 (GRCm39) |
N65I |
possibly damaging |
Het |
| Hat1 |
T |
C |
2: 71,264,378 (GRCm39) |
V272A |
probably benign |
Het |
| Helz |
T |
A |
11: 107,485,972 (GRCm39) |
M127K |
probably null |
Het |
| Hsp90b1 |
G |
A |
10: 86,529,367 (GRCm39) |
A310V |
probably damaging |
Het |
| Hspa4 |
T |
C |
11: 53,155,919 (GRCm39) |
Y662C |
probably damaging |
Het |
| Kif7 |
C |
T |
7: 79,360,727 (GRCm39) |
R216H |
probably damaging |
Het |
| Klhl33 |
A |
G |
14: 51,129,285 (GRCm39) |
I648T |
probably benign |
Het |
| Knl1 |
T |
A |
2: 118,912,031 (GRCm39) |
L1716* |
probably null |
Het |
| Lgals9 |
T |
A |
11: 78,863,980 (GRCm39) |
N55I |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,136,110 (GRCm39) |
T606S |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,667,467 (GRCm39) |
|
probably null |
Het |
| Mip |
A |
T |
10: 128,061,934 (GRCm39) |
I62F |
possibly damaging |
Het |
| Naa35 |
G |
A |
13: 59,770,680 (GRCm39) |
|
probably benign |
Het |
| Npepl1 |
T |
C |
2: 173,963,329 (GRCm39) |
F454L |
possibly damaging |
Het |
| Or10h28 |
A |
T |
17: 33,487,858 (GRCm39) |
E53D |
probably benign |
Het |
| Or1j21 |
T |
A |
2: 36,683,277 (GRCm39) |
S10T |
probably benign |
Het |
| Or5ae1 |
T |
A |
7: 84,565,626 (GRCm39) |
I213N |
possibly damaging |
Het |
| Or8b1b |
A |
T |
9: 38,376,023 (GRCm39) |
K229* |
probably null |
Het |
| Oxct1 |
T |
A |
15: 4,172,332 (GRCm39) |
V466D |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,144,792 (GRCm39) |
I2768F |
probably damaging |
Het |
| Pitpnm1 |
C |
A |
19: 4,153,319 (GRCm39) |
D158E |
possibly damaging |
Het |
| Plekho2 |
T |
C |
9: 65,464,018 (GRCm39) |
N277S |
probably benign |
Het |
| Rab33b |
T |
C |
3: 51,400,837 (GRCm39) |
Y104H |
probably damaging |
Het |
| Rpap1 |
T |
C |
2: 119,604,331 (GRCm39) |
S473G |
probably benign |
Het |
| Serpina1b |
T |
A |
12: 103,694,694 (GRCm39) |
|
probably null |
Het |
| Slc25a17 |
A |
T |
15: 81,213,377 (GRCm39) |
|
probably null |
Het |
| Slc43a2 |
T |
C |
11: 75,436,633 (GRCm39) |
C160R |
probably damaging |
Het |
| Slc7a4 |
G |
T |
16: 17,393,548 (GRCm39) |
L84M |
possibly damaging |
Het |
| Slco1a4 |
T |
A |
6: 141,755,120 (GRCm39) |
I561F |
possibly damaging |
Het |
| Sowahc |
GGGAGGAGGAGGAGGAGGAGGAGGAGGA |
GGGAGGAGGAGGAGGAGGAGGAGGA |
10: 59,059,313 (GRCm39) |
|
probably benign |
Het |
| Specc1 |
T |
C |
11: 62,008,793 (GRCm39) |
I183T |
probably damaging |
Het |
| Sucla2 |
A |
G |
14: 73,828,569 (GRCm39) |
K362E |
probably benign |
Het |
| Tcf12 |
A |
T |
9: 71,792,584 (GRCm39) |
|
probably null |
Het |
| Tlr11 |
C |
T |
14: 50,598,658 (GRCm39) |
P215S |
probably benign |
Het |
| Tmem41b |
A |
G |
7: 109,574,072 (GRCm39) |
S198P |
probably damaging |
Het |
| Tubgcp3 |
A |
G |
8: 12,698,670 (GRCm39) |
F427S |
probably damaging |
Het |
| Wdr81 |
T |
A |
11: 75,335,574 (GRCm39) |
S1752C |
probably damaging |
Het |
| Zfp37 |
T |
C |
4: 62,110,002 (GRCm39) |
Y354C |
probably damaging |
Het |
| Zmpste24 |
T |
A |
4: 120,940,074 (GRCm39) |
I191F |
possibly 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 |
|
R3755:Zbtb7a
|
UTSW |
10 |
80,980,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- ACACAGAACGGCCACTATGG -3'
(R):5'- CCTGGTGAATCGAACTTTACAG -3'
Sequencing Primer
(F):5'- TTCCTGTCAGGCGCTGCAG -3'
(R):5'- ACAGATGTTACACTCGTAGGGCTTC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation