Incidental Mutation 'IGL02376:Abtb1'
ID |
291142 |
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 # |
IGL02376
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
88812896-88818966 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 88815466 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144915
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032169]
[ENSMUST00000038409]
[ENSMUST00000061262]
[ENSMUST00000145944]
[ENSMUST00000203137]
[ENSMUST00000204327]
[ENSMUST00000204458]
[ENSMUST00000203272]
[ENSMUST00000205082]
[ENSMUST00000203864]
[ENSMUST00000204932]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032169
|
SMART Domains |
Protein: ENSMUSP00000032169 Gene: ENSMUSG00000030083
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: 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 |
probably benign
Transcript: ENSMUST00000203120
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203137
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204327
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204458
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204560
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203272
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205082
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203864
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203514
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203460
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204932
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy3 |
G |
A |
12: 4,251,031 (GRCm39) |
E597K |
possibly damaging |
Het |
Adcy9 |
A |
G |
16: 4,236,544 (GRCm39) |
V289A |
probably benign |
Het |
Akr1d1 |
A |
T |
6: 37,507,220 (GRCm39) |
D14V |
probably damaging |
Het |
Ankrd12 |
T |
C |
17: 66,349,524 (GRCm39) |
|
probably benign |
Het |
Arap3 |
T |
C |
18: 38,111,506 (GRCm39) |
T1137A |
possibly damaging |
Het |
Arhgef4 |
A |
T |
1: 34,845,140 (GRCm39) |
Q77L |
probably damaging |
Het |
Arhgef7 |
A |
G |
8: 11,867,735 (GRCm39) |
T444A |
probably damaging |
Het |
Arr3 |
A |
C |
X: 99,658,281 (GRCm39) |
K281Q |
probably damaging |
Het |
Arrdc2 |
A |
T |
8: 71,291,623 (GRCm39) |
I114N |
probably benign |
Het |
Atg2b |
A |
T |
12: 105,611,727 (GRCm39) |
F1217Y |
probably damaging |
Het |
C1qtnf1 |
A |
C |
11: 118,338,894 (GRCm39) |
Y188S |
probably benign |
Het |
Cbx6 |
C |
A |
15: 79,712,500 (GRCm39) |
R309L |
probably benign |
Het |
Cfap410 |
A |
G |
10: 77,820,388 (GRCm39) |
|
probably benign |
Het |
Chrna9 |
T |
C |
5: 66,128,502 (GRCm39) |
S237P |
probably damaging |
Het |
Dapk1 |
G |
A |
13: 60,844,208 (GRCm39) |
V76I |
probably benign |
Het |
Elk4 |
T |
A |
1: 131,942,288 (GRCm39) |
N53K |
probably benign |
Het |
Epha7 |
A |
C |
4: 28,951,287 (GRCm39) |
T799P |
probably damaging |
Het |
Exosc2 |
G |
A |
2: 31,569,887 (GRCm39) |
V233M |
possibly damaging |
Het |
Fam217b |
A |
G |
2: 178,059,366 (GRCm39) |
D3G |
probably benign |
Het |
Farp1 |
T |
A |
14: 121,510,268 (GRCm39) |
N755K |
probably damaging |
Het |
Fer |
A |
G |
17: 64,241,341 (GRCm39) |
E327G |
possibly damaging |
Het |
Fmnl3 |
A |
T |
15: 99,216,844 (GRCm39) |
F1017Y |
possibly damaging |
Het |
Gabbr2 |
A |
C |
4: 46,684,300 (GRCm39) |
I658S |
probably damaging |
Het |
Gemin2 |
A |
G |
12: 59,068,506 (GRCm39) |
D195G |
probably benign |
Het |
Gtf3c1 |
T |
A |
7: 125,268,168 (GRCm39) |
Y875F |
probably benign |
Het |
Hnrnpr |
G |
A |
4: 136,046,766 (GRCm39) |
G149D |
probably damaging |
Het |
Krt74 |
A |
C |
15: 101,662,938 (GRCm39) |
|
noncoding transcript |
Het |
Ltf |
A |
G |
9: 110,858,692 (GRCm39) |
D480G |
probably benign |
Het |
Map1b |
A |
G |
13: 99,572,103 (GRCm39) |
L206P |
probably damaging |
Het |
Meis1 |
T |
C |
11: 18,831,752 (GRCm39) |
M429V |
probably benign |
Het |
Myh4 |
C |
A |
11: 67,136,554 (GRCm39) |
T444N |
probably benign |
Het |
Nckap1l |
A |
T |
15: 103,379,658 (GRCm39) |
Y315F |
possibly damaging |
Het |
Ndst3 |
A |
G |
3: 123,350,447 (GRCm39) |
I646T |
probably damaging |
Het |
Ndufv1 |
T |
C |
19: 4,057,823 (GRCm39) |
|
probably null |
Het |
Ogdhl |
T |
C |
14: 32,065,275 (GRCm39) |
Y710H |
probably damaging |
Het |
Or4c52 |
A |
G |
2: 89,845,804 (GRCm39) |
I177V |
probably benign |
Het |
Otud7b |
A |
G |
3: 96,062,354 (GRCm39) |
K531R |
possibly damaging |
Het |
Pax3 |
T |
C |
1: 78,108,929 (GRCm39) |
Y243C |
probably damaging |
Het |
Pde1a |
A |
G |
2: 79,705,567 (GRCm39) |
|
probably benign |
Het |
Pik3cb |
C |
T |
9: 98,934,405 (GRCm39) |
M813I |
probably benign |
Het |
Prss42 |
A |
T |
9: 110,632,175 (GRCm39) |
D302V |
possibly damaging |
Het |
Rad52 |
T |
C |
6: 119,892,191 (GRCm39) |
|
probably benign |
Het |
Reln |
A |
T |
5: 22,285,789 (GRCm39) |
Y393* |
probably null |
Het |
Rhbdd3 |
T |
C |
11: 5,053,192 (GRCm39) |
|
probably benign |
Het |
Sbf2 |
C |
T |
7: 110,062,163 (GRCm39) |
G138D |
probably damaging |
Het |
Slco1a1 |
A |
T |
6: 141,870,060 (GRCm39) |
|
probably null |
Het |
Smg9 |
A |
G |
7: 24,114,455 (GRCm39) |
I265V |
probably benign |
Het |
Sppl2b |
G |
T |
10: 80,703,432 (GRCm39) |
E565* |
probably null |
Het |
Stx6 |
T |
A |
1: 155,077,725 (GRCm39) |
V244D |
probably benign |
Het |
Tle4 |
T |
C |
19: 14,571,768 (GRCm39) |
N78D |
probably damaging |
Het |
Tmcc3 |
A |
G |
10: 94,414,429 (GRCm39) |
I44V |
possibly damaging |
Het |
Tnnt3 |
C |
T |
7: 142,066,295 (GRCm39) |
T220I |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,557,811 (GRCm39) |
D29798E |
possibly damaging |
Het |
Vtcn1 |
A |
T |
3: 100,799,981 (GRCm39) |
M281L |
probably benign |
Het |
Zfp595 |
T |
C |
13: 67,464,514 (GRCm39) |
K586R |
possibly damaging |
Het |
Zfta |
C |
T |
19: 7,399,741 (GRCm39) |
P496L |
probably damaging |
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 |
IGL02702:Abtb1
|
APN |
6 |
88,815,120 (GRCm39) |
missense |
probably benign |
|
IGL03132:Abtb1
|
APN |
6 |
88,815,941 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03266:Abtb1
|
APN |
6 |
88,815,916 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
2015-04-16 |