Incidental Mutation 'R1317:Zbtb1'
| ID |
157576 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb1
|
| Ensembl Gene |
ENSMUSG00000033454 |
| Gene Name |
zinc finger and BTB domain containing 1 |
| Synonyms |
C430003J21Rik |
| MMRRC Submission |
039383-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.677)
|
| Stock # |
R1317 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
76417040-76443724 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76433573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 520
(S520G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042779]
|
| AlphaFold |
Q91VL9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042779
AA Change: S520G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000041955
Gene: ENSMUSG00000033454
AA Change: S520G
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
121 |
1.01e-16 |
SMART |
|
ZnF_C2H2
|
216 |
242 |
2.17e1 |
SMART |
|
low complexity region
|
359 |
368 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
421 |
443 |
3.38e1 |
SMART |
|
ZnF_C2H2
|
534 |
554 |
1.4e1 |
SMART |
|
ZnF_C2H2
|
578 |
600 |
2.02e-1 |
SMART |
|
ZnF_C2H2
|
606 |
628 |
6.23e-2 |
SMART |
|
ZnF_C2H2
|
634 |
656 |
1.62e0 |
SMART |
|
ZnF_C2H2
|
662 |
684 |
1.08e-1 |
SMART |
|
ZnF_C2H2
|
686 |
709 |
1.36e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.1144 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.7%
- 20x: 84.9%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU induced mutation exhibit abnormal thymus, B cell, and T cell differentiation, and reduced numbers of T, B, and NK cells in the spleen. [provided by MGI curators]
|
| Allele List at MGI |
www.informatics.jax.org/javawi2/servlet/WIFetch |
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,488,672 (GRCm39) |
H1268Y |
possibly damaging |
Het |
| Afdn |
A |
G |
17: 14,066,535 (GRCm39) |
T576A |
probably benign |
Het |
| Bcl6 |
G |
T |
16: 23,796,292 (GRCm39) |
A45D |
probably damaging |
Het |
| Ccdc7b |
A |
T |
8: 129,863,127 (GRCm39) |
H223L |
probably benign |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cryba2 |
G |
T |
1: 74,929,835 (GRCm39) |
|
probably null |
Het |
| Depdc1a |
T |
C |
3: 159,228,924 (GRCm39) |
C559R |
probably damaging |
Het |
| Fam20a |
A |
T |
11: 109,568,664 (GRCm39) |
N287K |
probably damaging |
Het |
| Gm5519 |
T |
C |
19: 33,802,391 (GRCm39) |
Y145H |
possibly damaging |
Het |
| Gm9602 |
T |
A |
14: 15,932,645 (GRCm39) |
I28N |
probably damaging |
Het |
| Gmeb1 |
G |
A |
4: 131,962,198 (GRCm39) |
Q154* |
probably null |
Het |
| Gpr156 |
T |
C |
16: 37,807,929 (GRCm39) |
L192P |
probably damaging |
Het |
| Hnrnpu |
G |
A |
1: 178,157,822 (GRCm39) |
|
probably benign |
Het |
| Ifi209 |
A |
G |
1: 173,465,029 (GRCm39) |
D53G |
possibly damaging |
Het |
| Irf6 |
G |
A |
1: 192,851,609 (GRCm39) |
R400H |
probably damaging |
Het |
| Jag2 |
T |
A |
12: 112,878,121 (GRCm39) |
M537L |
probably benign |
Het |
| Mid1 |
A |
C |
X: 168,769,090 (GRCm39) |
N215H |
probably damaging |
Het |
| Mt1 |
T |
C |
8: 94,906,781 (GRCm39) |
|
probably benign |
Het |
| Myo15b |
C |
A |
11: 115,774,460 (GRCm39) |
P2024Q |
probably null |
Het |
| Nphs1 |
C |
T |
7: 30,181,256 (GRCm39) |
|
probably benign |
Het |
| Rbm27 |
G |
A |
18: 42,457,116 (GRCm39) |
|
probably benign |
Het |
| Robo2 |
A |
G |
16: 73,831,912 (GRCm39) |
V256A |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Scg3 |
G |
A |
9: 75,576,622 (GRCm39) |
T251M |
probably damaging |
Het |
| Slc25a23 |
T |
C |
17: 57,360,888 (GRCm39) |
K179E |
possibly damaging |
Het |
| Smad5 |
T |
C |
13: 56,883,884 (GRCm39) |
|
probably benign |
Het |
| Tom1 |
T |
C |
8: 75,778,179 (GRCm39) |
V87A |
probably benign |
Het |
| Trim30b |
T |
A |
7: 104,006,542 (GRCm39) |
T105S |
possibly damaging |
Het |
| Tspan32 |
A |
G |
7: 142,571,328 (GRCm39) |
M159V |
probably benign |
Het |
| Tubb1 |
A |
G |
2: 174,298,689 (GRCm39) |
S124G |
probably benign |
Het |
| Zdhhc7 |
T |
A |
8: 120,811,639 (GRCm39) |
H188L |
probably benign |
Het |
|
| Other mutations in Zbtb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01891:Zbtb1
|
APN |
12 |
76,432,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02097:Zbtb1
|
APN |
12 |
76,433,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02328:Zbtb1
|
APN |
12 |
76,433,450 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02496:Zbtb1
|
APN |
12 |
76,432,169 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL03270:Zbtb1
|
APN |
12 |
76,432,289 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
Limited
|
UTSW |
12 |
76,432,601 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Occasional
|
UTSW |
12 |
76,433,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Old_friend
|
UTSW |
12 |
76,432,665 (GRCm39) |
missense |
probably damaging |
0.96 |
|
scant
|
UTSW |
12 |
76,432,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0893:Zbtb1
|
UTSW |
12 |
76,432,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1525:Zbtb1
|
UTSW |
12 |
76,433,206 (GRCm39) |
missense |
probably benign |
|
|
R1761:Zbtb1
|
UTSW |
12 |
76,432,595 (GRCm39) |
nonsense |
probably null |
|
|
R2920:Zbtb1
|
UTSW |
12 |
76,432,619 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5307:Zbtb1
|
UTSW |
12 |
76,433,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5718:Zbtb1
|
UTSW |
12 |
76,433,698 (GRCm39) |
missense |
probably benign |
|
|
R5975:Zbtb1
|
UTSW |
12 |
76,433,049 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6484:Zbtb1
|
UTSW |
12 |
76,432,665 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6493:Zbtb1
|
UTSW |
12 |
76,433,247 (GRCm39) |
missense |
probably benign |
|
|
R6513:Zbtb1
|
UTSW |
12 |
76,432,604 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6904:Zbtb1
|
UTSW |
12 |
76,432,985 (GRCm39) |
nonsense |
probably null |
|
|
R6948:Zbtb1
|
UTSW |
12 |
76,432,601 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8725:Zbtb1
|
UTSW |
12 |
76,432,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9202:Zbtb1
|
UTSW |
12 |
76,433,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9303:Zbtb1
|
UTSW |
12 |
76,432,773 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9305:Zbtb1
|
UTSW |
12 |
76,432,773 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0028:Zbtb1
|
UTSW |
12 |
76,432,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1191:Zbtb1
|
UTSW |
12 |
76,432,023 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTGGCTTAGAGAACATGAGACCC -3'
(R):5'- TCTTCCATGATGGCACCCTTGAAC -3'
Sequencing Primer
(F):5'- GCTGTGTGGACTCACAATAACTG -3'
(R):5'- GATGGCACCCTTGAACATATCTTG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation