Incidental Mutation 'IGL02328:Zbtb1'
| ID |
288576 |
| 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 # |
IGL02328
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
76417040-76443724 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76433450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 479
(N479D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042779]
|
| AlphaFold |
Q91VL9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042779
AA Change: N479D
PolyPhen 2
Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000041955
Gene: ENSMUSG00000033454
AA Change: N479D
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
A |
13: 81,726,294 (GRCm39) |
N577I |
probably damaging |
Het |
| Arhgef1 |
T |
C |
7: 24,623,240 (GRCm39) |
L667P |
probably damaging |
Het |
| Btk |
G |
A |
X: 133,459,449 (GRCm39) |
P192L |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,589,348 (GRCm39) |
Y1069F |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,564,096 (GRCm39) |
|
probably null |
Het |
| E230025N22Rik |
A |
G |
18: 36,828,667 (GRCm39) |
S4P |
probably damaging |
Het |
| Ei24 |
A |
T |
9: 36,696,827 (GRCm39) |
|
probably null |
Het |
| Foxred2 |
A |
G |
15: 77,840,032 (GRCm39) |
L86P |
probably damaging |
Het |
| Gm3127 |
A |
T |
14: 15,424,989 (GRCm39) |
R42W |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,803,219 (GRCm39) |
Y377C |
probably damaging |
Het |
| Hpse2 |
A |
T |
19: 42,920,038 (GRCm39) |
L354I |
probably damaging |
Het |
| Hspa4 |
A |
G |
11: 53,190,885 (GRCm39) |
|
probably null |
Het |
| Iqcg |
T |
G |
16: 32,839,876 (GRCm39) |
I357L |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,612,295 (GRCm39) |
L204P |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,152,594 (GRCm39) |
N311S |
probably damaging |
Het |
| Lmod2 |
A |
G |
6: 24,603,832 (GRCm39) |
D269G |
probably benign |
Het |
| Med16 |
A |
G |
10: 79,743,376 (GRCm39) |
S29P |
probably damaging |
Het |
| Mex3b |
T |
C |
7: 82,518,920 (GRCm39) |
S412P |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,417,433 (GRCm39) |
I3443V |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,297,877 (GRCm39) |
L720I |
probably damaging |
Het |
| Or1e26 |
A |
G |
11: 73,480,081 (GRCm39) |
V161A |
probably benign |
Het |
| Or4z4 |
T |
A |
19: 12,076,146 (GRCm39) |
I286F |
probably damaging |
Het |
| Or52ab4 |
A |
T |
7: 102,987,497 (GRCm39) |
I79F |
probably damaging |
Het |
| Or6c213 |
T |
C |
10: 129,573,895 (GRCm39) |
D297G |
probably benign |
Het |
| Or8b1b |
A |
T |
9: 38,375,972 (GRCm39) |
I212F |
probably benign |
Het |
| Pan3 |
A |
G |
5: 147,466,933 (GRCm39) |
|
probably null |
Het |
| Pitpnm2 |
T |
C |
5: 124,259,477 (GRCm39) |
Q1286R |
probably damaging |
Het |
| Scgb2b24 |
A |
G |
7: 33,438,050 (GRCm39) |
|
probably benign |
Het |
| Sh2b3 |
T |
C |
5: 121,955,922 (GRCm39) |
D520G |
probably benign |
Het |
| Skint4 |
T |
A |
4: 111,977,255 (GRCm39) |
I215N |
possibly damaging |
Het |
| Slc24a5 |
A |
G |
2: 124,922,559 (GRCm39) |
D107G |
probably damaging |
Het |
| Slit2 |
T |
C |
5: 48,387,646 (GRCm39) |
I549T |
probably damaging |
Het |
| Stambp |
A |
G |
6: 83,533,363 (GRCm39) |
L300P |
possibly damaging |
Het |
| Taf2 |
T |
C |
15: 54,891,772 (GRCm39) |
N1017S |
probably benign |
Het |
| Tm9sf2 |
T |
G |
14: 122,380,842 (GRCm39) |
V145G |
possibly damaging |
Het |
| Tor1aip2 |
G |
T |
1: 155,940,720 (GRCm39) |
C342F |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,206,233 (GRCm39) |
T4823M |
probably damaging |
Het |
| Vmn1r80 |
G |
T |
7: 11,927,405 (GRCm39) |
A172S |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,799,898 (GRCm39) |
N447Y |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation