Incidental Mutation 'R5313:Zbtb7b'
| ID |
405685 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb7b
|
| Ensembl Gene |
ENSMUSG00000028042 |
| Gene Name |
zinc finger and BTB domain containing 7B |
| Synonyms |
Zfp67, Thpok, c-Krox |
| MMRRC Submission |
042896-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.835)
|
| Stock # |
R5313 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89284953-89300976 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 89288626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 64
(T64K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029677]
[ENSMUST00000107432]
[ENSMUST00000107433]
[ENSMUST00000107435]
[ENSMUST00000124783]
[ENSMUST00000126027]
[ENSMUST00000142119]
[ENSMUST00000148361]
[ENSMUST00000208216]
|
| AlphaFold |
Q64321 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029677
AA Change: T64K
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029677
Gene: ENSMUSG00000028042
AA Change: T64K
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
34 |
145 |
1.45e-26 |
SMART |
|
low complexity region
|
167 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
285 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
350 |
372 |
5.72e-1 |
SMART |
|
ZnF_C2H2
|
378 |
400 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
406 |
428 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
434 |
454 |
8.98e0 |
SMART |
|
low complexity region
|
477 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
539 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107432
AA Change: T64K
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103055
Gene: ENSMUSG00000028042
AA Change: T64K
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
34 |
145 |
1.45e-26 |
SMART |
|
low complexity region
|
167 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
285 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
350 |
372 |
5.72e-1 |
SMART |
|
ZnF_C2H2
|
378 |
400 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
406 |
428 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
434 |
454 |
8.98e0 |
SMART |
|
low complexity region
|
477 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
539 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107433
AA Change: T64K
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103056
Gene: ENSMUSG00000028042
AA Change: T64K
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
34 |
145 |
1.45e-26 |
SMART |
|
low complexity region
|
167 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
285 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
350 |
372 |
5.72e-1 |
SMART |
|
ZnF_C2H2
|
378 |
400 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
406 |
428 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
434 |
454 |
8.98e0 |
SMART |
|
low complexity region
|
477 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
539 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107435
AA Change: T64K
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103058
Gene: ENSMUSG00000028042
AA Change: T64K
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
34 |
145 |
1.45e-26 |
SMART |
|
low complexity region
|
167 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
285 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
350 |
372 |
5.72e-1 |
SMART |
|
ZnF_C2H2
|
378 |
400 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
406 |
428 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
434 |
454 |
8.98e0 |
SMART |
|
low complexity region
|
477 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
539 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124783
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126027
AA Change: T64K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123348
Gene: ENSMUSG00000028042
AA Change: T64K
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
34 |
124 |
1.36e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142119
AA Change: T64K
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115425
Gene: ENSMUSG00000028042
AA Change: T64K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
24 |
112 |
2.7e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148361
AA Change: T64K
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121498
Gene: ENSMUSG00000028042
AA Change: T64K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
24 |
102 |
1.2e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208216
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger-containing transcription factor that acts as a key regulator of lineage commitment of immature T-cell precursors. It is necessary and sufficient for commitment of CD4 lineage, while its absence causes CD8 commitment. It also functions as a transcriptional repressor of type I collagen genes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous mutants exhibit absence of peripheral T cells of the CD4+CD8- MHC class II-restricted T helper subset due to a specific block in thymic development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
T |
C |
11: 46,022,603 (GRCm39) |
C519R |
probably damaging |
Het |
| Adgra3 |
A |
T |
5: 50,118,651 (GRCm39) |
S966T |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,529,349 (GRCm39) |
Y1115H |
probably damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,874,516 (GRCm39) |
I938F |
probably damaging |
Het |
| Arhgef17 |
A |
C |
7: 100,578,131 (GRCm39) |
L939W |
probably damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,501,629 (GRCm39) |
|
probably null |
Het |
| Armh3 |
G |
A |
19: 45,807,414 (GRCm39) |
R661W |
probably damaging |
Het |
| Cacna1d |
A |
C |
14: 30,068,798 (GRCm39) |
I147S |
probably benign |
Het |
| Cdc42bpa |
T |
G |
1: 179,911,998 (GRCm39) |
D525E |
probably benign |
Het |
| Cdh6 |
T |
A |
15: 13,034,723 (GRCm39) |
I646F |
probably damaging |
Het |
| Col6a5 |
T |
G |
9: 105,822,743 (GRCm39) |
I205L |
unknown |
Het |
| Cpox |
T |
A |
16: 58,498,311 (GRCm39) |
Y381* |
probably null |
Het |
| Ctsc |
T |
C |
7: 87,958,761 (GRCm39) |
V347A |
probably damaging |
Het |
| Dnaaf9 |
C |
T |
2: 130,551,188 (GRCm39) |
E1027K |
probably damaging |
Het |
| Ephb6 |
A |
T |
6: 41,593,727 (GRCm39) |
T537S |
possibly damaging |
Het |
| Fam135a |
T |
C |
1: 24,067,666 (GRCm39) |
I168V |
possibly damaging |
Het |
| Fam234b |
T |
A |
6: 135,186,185 (GRCm39) |
D64E |
possibly damaging |
Het |
| Fgfr2 |
A |
T |
7: 129,842,970 (GRCm39) |
D157E |
probably benign |
Het |
| Fstl5 |
A |
T |
3: 76,500,812 (GRCm39) |
I414F |
possibly damaging |
Het |
| Glp2r |
T |
C |
11: 67,648,357 (GRCm39) |
D115G |
probably damaging |
Het |
| Gpr85 |
A |
T |
6: 13,836,301 (GRCm39) |
V201D |
probably damaging |
Het |
| Ido1 |
A |
C |
8: 25,077,794 (GRCm39) |
I91S |
probably damaging |
Het |
| Ism2 |
G |
A |
12: 87,326,536 (GRCm39) |
P468S |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,464,538 (GRCm39) |
K1643E |
probably damaging |
Het |
| Or10ak8 |
A |
G |
4: 118,773,995 (GRCm39) |
V223A |
probably benign |
Het |
| Or4c122 |
C |
T |
2: 89,079,721 (GRCm39) |
E106K |
probably benign |
Het |
| Or5b112 |
G |
A |
19: 13,319,429 (GRCm39) |
M102I |
probably benign |
Het |
| Or6c2 |
C |
T |
10: 129,362,950 (GRCm39) |
P285S |
probably damaging |
Het |
| Ppargc1a |
A |
G |
5: 51,615,581 (GRCm39) |
|
probably benign |
Het |
| Prpf4b |
T |
C |
13: 35,078,532 (GRCm39) |
V714A |
probably damaging |
Het |
| Septin8 |
C |
T |
11: 53,426,809 (GRCm39) |
T190I |
probably damaging |
Het |
| Slc18a2 |
A |
G |
19: 59,282,275 (GRCm39) |
K494R |
probably benign |
Het |
| Slc34a2 |
A |
T |
5: 53,226,681 (GRCm39) |
K542N |
probably damaging |
Het |
| Snd1 |
C |
A |
6: 28,668,600 (GRCm39) |
T429K |
probably benign |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Timm10b |
T |
C |
7: 105,290,287 (GRCm39) |
L60P |
probably damaging |
Het |
| Tmprss11a |
A |
T |
5: 86,559,674 (GRCm39) |
Y373N |
probably damaging |
Het |
| Usp17la |
T |
A |
7: 104,510,457 (GRCm39) |
V354D |
probably benign |
Het |
|
| Other mutations in Zbtb7b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01537:Zbtb7b
|
APN |
3 |
89,287,278 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02812:Zbtb7b
|
APN |
3 |
89,287,081 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4826:Zbtb7b
|
UTSW |
3 |
89,288,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5354:Zbtb7b
|
UTSW |
3 |
89,286,913 (GRCm39) |
unclassified |
probably benign |
|
|
R7151:Zbtb7b
|
UTSW |
3 |
89,288,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7152:Zbtb7b
|
UTSW |
3 |
89,288,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7250:Zbtb7b
|
UTSW |
3 |
89,286,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7426:Zbtb7b
|
UTSW |
3 |
89,288,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8556:Zbtb7b
|
UTSW |
3 |
89,300,444 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATTTCCAGTAGCCGAGCAG -3'
(R):5'- TTGACCCTGCAGGAGAAGATG -3'
Sequencing Primer
(F):5'- TAGCCGAGCAGCTTGGAGTAC -3'
(R):5'- GGAGCCCCGAGGATGAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation