Incidental Mutation 'IGL03270:Zbtb1'
ID |
415225 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zbtb1
|
Ensembl Gene |
ENSMUSG00000033454 |
Gene Name |
zinc finger and BTB domain containing 1 |
Synonyms |
C430003J21Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.677)
|
Stock # |
IGL03270
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
76417040-76443724 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76432289 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 92
(S92P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042779]
|
AlphaFold |
Q91VL9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042779
AA Change: S92P
PolyPhen 2
Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000041955 Gene: ENSMUSG00000033454 AA Change: S92P
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ctnnd1 |
A |
T |
2: 84,440,071 (GRCm39) |
|
probably null |
Het |
Fcmr |
A |
T |
1: 130,803,779 (GRCm39) |
R194S |
possibly damaging |
Het |
Fmo2 |
A |
G |
1: 162,709,595 (GRCm39) |
F264S |
probably damaging |
Het |
Gfra2 |
A |
G |
14: 71,163,344 (GRCm39) |
D209G |
possibly damaging |
Het |
Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
Iigp1c |
A |
G |
18: 60,378,548 (GRCm39) |
K28E |
probably benign |
Het |
Kifap3 |
T |
A |
1: 163,676,302 (GRCm39) |
M419K |
probably benign |
Het |
Lgr6 |
A |
C |
1: 134,925,442 (GRCm39) |
I133S |
probably damaging |
Het |
Med13l |
A |
C |
5: 118,869,495 (GRCm39) |
N811T |
probably damaging |
Het |
Or4c118 |
A |
G |
2: 88,975,089 (GRCm39) |
F93L |
probably damaging |
Het |
Or6k2 |
T |
A |
1: 173,987,119 (GRCm39) |
M260K |
probably benign |
Het |
Pappa2 |
T |
A |
1: 158,592,637 (GRCm39) |
D1580V |
possibly damaging |
Het |
Ppp4r2 |
T |
G |
6: 100,840,086 (GRCm39) |
N72K |
probably damaging |
Het |
Prr27 |
T |
C |
5: 87,983,537 (GRCm39) |
|
probably benign |
Het |
Rad51d |
A |
G |
11: 82,772,420 (GRCm39) |
|
probably benign |
Het |
Rel |
T |
C |
11: 23,692,584 (GRCm39) |
N483S |
probably benign |
Het |
Scn9a |
A |
G |
2: 66,314,358 (GRCm39) |
F1776L |
probably damaging |
Het |
Slco5a1 |
G |
A |
1: 12,942,252 (GRCm39) |
T798I |
probably benign |
Het |
Ttn |
T |
C |
2: 76,606,811 (GRCm39) |
D18033G |
probably damaging |
Het |
Vmn1r46 |
T |
A |
6: 89,953,756 (GRCm39) |
S202T |
probably damaging |
Het |
Vmn2r110 |
T |
G |
17: 20,803,778 (GRCm39) |
M266L |
probably benign |
Het |
Vmn2r26 |
A |
T |
6: 124,027,778 (GRCm39) |
D506V |
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 |
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 |
R1317:Zbtb1
|
UTSW |
12 |
76,433,573 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
|
Posted On |
2016-08-02 |