Incidental Mutation 'IGL03266:Abtb1'
| ID |
415083 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Abtb1
|
| Ensembl Gene |
ENSMUSG00000030083 |
| Gene Name |
ankyrin repeat and BTB domain containing 1 |
| Synonyms |
EF1ABP, BPOZ |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.326)
|
| Stock # |
IGL03266
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
88812896-88818966 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88815916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 185
(V185E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032169
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032169]
[ENSMUST00000038409]
[ENSMUST00000061262]
[ENSMUST00000145944]
[ENSMUST00000205082]
[ENSMUST00000204327]
[ENSMUST00000203272]
[ENSMUST00000204458]
[ENSMUST00000203137]
[ENSMUST00000204932]
[ENSMUST00000203864]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032169
AA Change: V185E
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032169
Gene: ENSMUSG00000030083
AA Change: V185E
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
1 |
31 |
5.03e2 |
SMART |
|
ANK
|
35 |
64 |
2.81e-4 |
SMART |
|
BTB
|
115 |
212 |
7.8e-18 |
SMART |
|
BTB
|
272 |
376 |
4.24e-19 |
SMART |
|
low complexity region
|
412 |
433 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038409
|
| SMART Domains |
Protein: ENSMUSP00000040417
Gene: ENSMUSG00000033152
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
88 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
152 |
N/A |
INTRINSIC |
|
Pfam:CD34_antigen
|
328 |
539 |
9e-77 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061262
|
| SMART Domains |
Protein: ENSMUSP00000058985
Gene: ENSMUSG00000033152
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
88 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
152 |
N/A |
INTRINSIC |
|
Pfam:CD34_antigen
|
328 |
539 |
5.4e-70 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124562
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141401
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145944
|
| SMART Domains |
Protein: ENSMUSP00000117954
Gene: ENSMUSG00000033152
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
|
coiled coil region
|
152 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
216 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147542
|
| Predicted Effect |
silent
Transcript: ENSMUST00000205082
|
| Predicted Effect |
silent
Transcript: ENSMUST00000204327
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203272
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204458
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203137
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203120
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204932
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203864
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203460
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203514
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204560
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
T |
C |
11: 100,374,578 (GRCm39) |
E815G |
probably damaging |
Het |
| Actr10 |
T |
G |
12: 71,003,440 (GRCm39) |
S261A |
probably benign |
Het |
| Als2cl |
T |
C |
9: 110,719,924 (GRCm39) |
V504A |
possibly damaging |
Het |
| Btla |
T |
C |
16: 45,059,638 (GRCm39) |
I114T |
probably damaging |
Het |
| Cacna2d3 |
T |
A |
14: 29,022,705 (GRCm39) |
I348L |
probably benign |
Het |
| Chst15 |
T |
A |
7: 131,871,805 (GRCm39) |
I159F |
probably damaging |
Het |
| Creld1 |
T |
A |
6: 113,466,558 (GRCm39) |
H208Q |
probably benign |
Het |
| Fap |
C |
T |
2: 62,367,366 (GRCm39) |
V334I |
probably benign |
Het |
| Fat2 |
C |
T |
11: 55,174,855 (GRCm39) |
V1953M |
possibly damaging |
Het |
| Fgfr3 |
G |
A |
5: 33,891,709 (GRCm39) |
A595T |
probably damaging |
Het |
| Gm8122 |
T |
A |
14: 43,090,116 (GRCm39) |
M125L |
unknown |
Het |
| Itprid2 |
G |
A |
2: 79,472,534 (GRCm39) |
|
probably null |
Het |
| Klk1b1 |
T |
G |
7: 43,619,900 (GRCm39) |
L153R |
probably benign |
Het |
| Lrig3 |
T |
A |
10: 125,849,151 (GRCm39) |
M957K |
probably benign |
Het |
| Mc3r |
C |
T |
2: 172,091,189 (GRCm39) |
A137V |
probably benign |
Het |
| Met |
T |
A |
6: 17,540,537 (GRCm39) |
L821Q |
possibly damaging |
Het |
| Mrps17 |
T |
C |
5: 129,793,806 (GRCm39) |
|
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,067,150 (GRCm39) |
T202A |
probably benign |
Het |
| Nae1 |
T |
C |
8: 105,239,828 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,402,348 (GRCm39) |
I2240N |
probably damaging |
Het |
| Stat6 |
T |
C |
10: 127,493,024 (GRCm39) |
L552P |
possibly damaging |
Het |
| Trbv3 |
C |
A |
6: 41,025,658 (GRCm39) |
Q83K |
probably benign |
Het |
| Uaca |
A |
T |
9: 60,770,689 (GRCm39) |
D344V |
probably damaging |
Het |
| Ube2q2l |
T |
C |
6: 136,377,921 (GRCm39) |
E303G |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,189,129 (GRCm39) |
D1452E |
probably damaging |
Het |
| Vwf |
T |
C |
6: 125,655,040 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Abtb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01487:Abtb1
|
APN |
6 |
88,816,431 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02264:Abtb1
|
APN |
6 |
88,813,517 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02376:Abtb1
|
APN |
6 |
88,815,466 (GRCm39) |
splice site |
probably benign |
|
|
IGL02702:Abtb1
|
APN |
6 |
88,815,120 (GRCm39) |
missense |
probably benign |
|
|
IGL03132:Abtb1
|
APN |
6 |
88,815,941 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4243001:Abtb1
|
UTSW |
6 |
88,815,708 (GRCm39) |
missense |
probably benign |
0.16 |
|
PIT4418001:Abtb1
|
UTSW |
6 |
88,816,630 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0331:Abtb1
|
UTSW |
6 |
88,817,684 (GRCm39) |
unclassified |
probably benign |
|
|
R0763:Abtb1
|
UTSW |
6 |
88,815,261 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1565:Abtb1
|
UTSW |
6 |
88,813,536 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1796:Abtb1
|
UTSW |
6 |
88,813,601 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1822:Abtb1
|
UTSW |
6 |
88,813,536 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1824:Abtb1
|
UTSW |
6 |
88,813,536 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2225:Abtb1
|
UTSW |
6 |
88,813,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2227:Abtb1
|
UTSW |
6 |
88,813,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2399:Abtb1
|
UTSW |
6 |
88,815,720 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4394:Abtb1
|
UTSW |
6 |
88,813,566 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4625:Abtb1
|
UTSW |
6 |
88,813,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5312:Abtb1
|
UTSW |
6 |
88,815,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5552:Abtb1
|
UTSW |
6 |
88,813,530 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6035:Abtb1
|
UTSW |
6 |
88,818,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Abtb1
|
UTSW |
6 |
88,818,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6092:Abtb1
|
UTSW |
6 |
88,815,433 (GRCm39) |
missense |
probably benign |
|
|
R6195:Abtb1
|
UTSW |
6 |
88,817,718 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7257:Abtb1
|
UTSW |
6 |
88,816,434 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9547:Abtb1
|
UTSW |
6 |
88,815,917 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation