Incidental Mutation 'R9782:Zbtb7a'
| ID |
734128 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9782 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
80971113-80988056 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 80979910 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 35
(D35N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047333
(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: D35N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000047333
Gene: ENSMUSG00000035011
AA Change: D35N
| 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: D35N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113428
Gene: ENSMUSG00000035011
AA Change: D35N
| 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: D35N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113612
Gene: ENSMUSG00000035011
AA Change: D35N
| 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: D35N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113787
Gene: ENSMUSG00000035011
AA Change: D35N
| 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: D35N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114470
Gene: ENSMUSG00000035011
AA Change: D35N
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
34 |
131 |
5.01e-30 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146895
AA Change: D35N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.1%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
A |
5: 64,053,796 (GRCm39) |
M1K |
probably null |
Het |
| Atoh8 |
A |
T |
6: 72,200,848 (GRCm39) |
L281M |
possibly damaging |
Het |
| Bckdha |
A |
G |
7: 25,340,880 (GRCm39) |
|
probably null |
Het |
| Chil6 |
A |
T |
3: 106,296,121 (GRCm39) |
Y371* |
probably null |
Het |
| Cilk1 |
A |
T |
9: 78,048,520 (GRCm39) |
Q108L |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,522,376 (GRCm39) |
H164Q |
probably benign |
Het |
| Gucd1 |
T |
G |
10: 75,345,650 (GRCm39) |
D135A |
probably benign |
Het |
| Hacd1 |
A |
G |
2: 14,040,751 (GRCm39) |
I168T |
possibly damaging |
Het |
| Hfm1 |
T |
C |
5: 107,021,896 (GRCm39) |
E1013G |
probably benign |
Het |
| Hsf4 |
G |
A |
8: 105,999,217 (GRCm39) |
|
probably null |
Het |
| Ift140 |
G |
T |
17: 25,264,151 (GRCm39) |
|
probably null |
Het |
| Igsf3 |
A |
T |
3: 101,338,612 (GRCm39) |
I309F |
probably benign |
Het |
| Imp4 |
T |
A |
1: 34,482,901 (GRCm39) |
L164Q |
probably damaging |
Het |
| Jazf1 |
C |
T |
6: 52,747,311 (GRCm39) |
V204I |
probably benign |
Het |
| Kmt2d |
T |
A |
15: 98,764,597 (GRCm39) |
D2V |
probably damaging |
Het |
| Knl1 |
T |
C |
2: 118,899,910 (GRCm39) |
V537A |
probably benign |
Het |
| Mep1b |
A |
T |
18: 21,208,720 (GRCm39) |
D32V |
possibly damaging |
Het |
| Mki67 |
A |
G |
7: 135,306,066 (GRCm39) |
|
probably null |
Het |
| Morn3 |
C |
T |
5: 123,175,822 (GRCm39) |
V189M |
probably damaging |
Het |
| Mri1 |
C |
T |
8: 84,980,933 (GRCm39) |
C199Y |
possibly damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,713,293 (GRCm39) |
M490T |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,548,066 (GRCm39) |
T6076A |
possibly damaging |
Het |
| Myo1c |
A |
G |
11: 75,549,273 (GRCm39) |
E113G |
probably damaging |
Het |
| Nat8f4 |
A |
T |
6: 85,878,052 (GRCm39) |
V157D |
probably damaging |
Het |
| Nectin4 |
T |
C |
1: 171,214,192 (GRCm39) |
V449A |
probably damaging |
Het |
| Ogdhl |
C |
T |
14: 32,061,909 (GRCm39) |
T528M |
probably damaging |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or4c100 |
G |
A |
2: 88,356,835 (GRCm39) |
V303M |
probably benign |
Het |
| Or52l1 |
A |
G |
7: 104,830,067 (GRCm39) |
V166A |
probably damaging |
Het |
| Pcdhb12 |
AT |
A |
18: 37,570,393 (GRCm39) |
|
probably null |
Het |
| Pigo |
T |
C |
4: 43,023,475 (GRCm39) |
D233G |
probably damaging |
Het |
| Pkn2 |
A |
C |
3: 142,516,237 (GRCm39) |
V562G |
possibly damaging |
Het |
| Plxna1 |
C |
A |
6: 89,333,817 (GRCm39) |
A271S |
probably benign |
Het |
| Ppp1r3a |
C |
T |
6: 14,718,766 (GRCm39) |
S716N |
probably damaging |
Het |
| Prss12 |
G |
A |
3: 123,271,762 (GRCm39) |
G256S |
probably benign |
Het |
| Psg28 |
A |
T |
7: 18,164,331 (GRCm39) |
M127K |
probably benign |
Het |
| Psmf1 |
T |
C |
2: 151,577,533 (GRCm39) |
D48G |
possibly damaging |
Het |
| Rabggta |
T |
A |
14: 55,955,944 (GRCm39) |
M438L |
possibly damaging |
Het |
| Rapgef3 |
T |
C |
15: 97,643,479 (GRCm39) |
I911V |
probably damaging |
Het |
| Rbck1 |
T |
C |
2: 152,165,113 (GRCm39) |
E297G |
probably damaging |
Het |
| Rras |
A |
T |
7: 44,669,945 (GRCm39) |
I126F |
probably damaging |
Het |
| Slc22a28 |
T |
C |
19: 8,041,813 (GRCm39) |
R465G |
probably null |
Het |
| Slc28a2b |
T |
A |
2: 122,352,338 (GRCm39) |
I365N |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,340,172 (GRCm39) |
T437A |
probably benign |
Het |
| Son |
A |
T |
16: 91,444,838 (GRCm39) |
S15C |
probably damaging |
Het |
| Spata31e1 |
C |
T |
13: 49,939,542 (GRCm39) |
V723M |
possibly damaging |
Het |
| Sptbn4 |
G |
T |
7: 27,107,993 (GRCm39) |
Q810K |
probably benign |
Het |
| Tmtc2 |
T |
C |
10: 105,026,062 (GRCm39) |
Y802C |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,758,716 (GRCm39) |
M2181K |
probably damaging |
Het |
| Ttc23l |
A |
G |
15: 10,530,767 (GRCm39) |
S282P |
probably damaging |
Het |
| Zc3h3 |
C |
A |
15: 75,681,489 (GRCm39) |
V531L |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,466,514 (GRCm39) |
D2249G |
probably benign |
Het |
| Zfp87 |
T |
C |
13: 74,520,932 (GRCm39) |
K49E |
probably benign |
Het |
| Zfp942 |
T |
C |
17: 22,147,463 (GRCm39) |
T389A |
probably benign |
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 |
|
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 |
|
R9792:Zbtb7a
|
UTSW |
10 |
80,980,378 (GRCm39) |
missense |
probably benign |
0.26 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCCTGGAGAGACTGAAGCTG -3'
(R):5'- TCAGGATGTCGCCCACATTG -3'
Sequencing Primer
(F):5'- ACTGAAGCTGGGGGCCTAC -3'
(R):5'- ACATTGGCCGTGCTGAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation