Incidental Mutation 'R0763:Abtb1'
ID |
72504 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abtb1
|
Ensembl Gene |
ENSMUSG00000030083 |
Gene Name |
ankyrin repeat and BTB domain containing 1 |
Synonyms |
EF1ABP, BPOZ |
MMRRC Submission |
038943-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.326)
|
Stock # |
R0763 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
88812896-88818966 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 88815261 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Valine
at position 290
(F290V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032169
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032169]
[ENSMUST00000038409]
[ENSMUST00000061262]
[ENSMUST00000145944]
[ENSMUST00000203137]
[ENSMUST00000205082]
[ENSMUST00000203864]
[ENSMUST00000203272]
[ENSMUST00000204327]
[ENSMUST00000204458]
[ENSMUST00000204932]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032169
AA Change: F290V
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000032169 Gene: ENSMUSG00000030083 AA Change: F290V
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: ENSMUST00000205082
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203864
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203272
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203514
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204327
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203460
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204560
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204458
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204932
|
Meta Mutation Damage Score |
0.2085 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 93.8%
|
Validation Efficiency |
96% (52/54) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26b |
G |
A |
8: 43,973,601 (GRCm39) |
S467L |
probably damaging |
Het |
Adgrv1 |
T |
A |
13: 81,647,244 (GRCm39) |
I3099F |
probably damaging |
Het |
Akap6 |
A |
G |
12: 53,188,997 (GRCm39) |
D2137G |
possibly damaging |
Het |
Arhgdig |
T |
C |
17: 26,419,275 (GRCm39) |
Y48C |
probably damaging |
Het |
Astn1 |
A |
G |
1: 158,337,460 (GRCm39) |
I389V |
possibly damaging |
Het |
Atp8a1 |
T |
C |
5: 67,817,226 (GRCm39) |
D920G |
probably benign |
Het |
BC016579 |
T |
A |
16: 45,449,818 (GRCm39) |
N200I |
probably damaging |
Het |
Casc3 |
T |
C |
11: 98,722,144 (GRCm39) |
Y661H |
probably damaging |
Het |
Cep120 |
A |
C |
18: 53,854,809 (GRCm39) |
V442G |
probably benign |
Het |
Cfap65 |
A |
G |
1: 74,943,841 (GRCm39) |
Y1557H |
probably damaging |
Het |
Chd2 |
G |
T |
7: 73,097,022 (GRCm39) |
Q1485K |
possibly damaging |
Het |
Cntrl |
T |
C |
2: 35,061,078 (GRCm39) |
F1967L |
probably benign |
Het |
Csmd1 |
G |
A |
8: 17,077,300 (GRCm39) |
T119M |
possibly damaging |
Het |
Dnah9 |
T |
C |
11: 66,046,356 (GRCm39) |
H64R |
probably benign |
Het |
Ep400 |
T |
C |
5: 110,813,703 (GRCm39) |
R2899G |
probably damaging |
Het |
Foxl2 |
A |
C |
9: 98,838,086 (GRCm39) |
T125P |
probably damaging |
Het |
Foxred1 |
A |
T |
9: 35,118,769 (GRCm39) |
|
probably null |
Het |
H2-Eb1 |
T |
A |
17: 34,533,133 (GRCm39) |
|
probably benign |
Het |
Heatr3 |
T |
C |
8: 88,884,869 (GRCm39) |
S378P |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,445,096 (GRCm39) |
|
probably benign |
Het |
Hps3 |
T |
G |
3: 20,057,443 (GRCm39) |
R780S |
probably damaging |
Het |
Ifi44 |
G |
A |
3: 151,455,135 (GRCm39) |
A30V |
probably damaging |
Het |
Il12rb1 |
G |
A |
8: 71,265,934 (GRCm39) |
|
probably benign |
Het |
Invs |
G |
A |
4: 48,392,628 (GRCm39) |
G281R |
possibly damaging |
Het |
Itgax |
C |
A |
7: 127,747,112 (GRCm39) |
|
probably benign |
Het |
Jade1 |
G |
T |
3: 41,568,218 (GRCm39) |
C762F |
possibly damaging |
Het |
Lama1 |
C |
T |
17: 68,079,813 (GRCm39) |
P1229S |
probably damaging |
Het |
Mmp15 |
C |
A |
8: 96,094,856 (GRCm39) |
D243E |
probably benign |
Het |
Mug2 |
A |
G |
6: 122,052,253 (GRCm39) |
T1004A |
probably benign |
Het |
Myh14 |
A |
T |
7: 44,314,791 (GRCm39) |
V44E |
probably damaging |
Het |
N4bp2l1 |
C |
A |
5: 150,517,869 (GRCm39) |
R11S |
possibly damaging |
Het |
Notch4 |
T |
A |
17: 34,784,306 (GRCm39) |
C36* |
probably null |
Het |
Nwd1 |
A |
G |
8: 73,397,672 (GRCm39) |
D637G |
probably damaging |
Het |
Ogfod1 |
T |
C |
8: 94,782,264 (GRCm39) |
I238T |
probably benign |
Het |
Pakap |
G |
A |
4: 57,688,441 (GRCm39) |
E95K |
probably damaging |
Het |
Papln |
A |
G |
12: 83,838,639 (GRCm39) |
D1256G |
possibly damaging |
Het |
Ppp1r26 |
T |
C |
2: 28,340,379 (GRCm39) |
L3P |
probably damaging |
Het |
Rbm10 |
C |
T |
X: 20,503,903 (GRCm39) |
|
probably benign |
Het |
Slc17a5 |
A |
T |
9: 78,460,372 (GRCm39) |
|
probably benign |
Het |
Slc25a17 |
A |
G |
15: 81,207,907 (GRCm39) |
|
probably benign |
Het |
Socs4 |
T |
C |
14: 47,528,112 (GRCm39) |
F349S |
probably damaging |
Het |
Spata31f1a |
A |
G |
4: 42,851,238 (GRCm39) |
V306A |
probably damaging |
Het |
Tchhl1 |
A |
C |
3: 93,378,878 (GRCm39) |
E527D |
probably benign |
Het |
Tm7sf3 |
A |
G |
6: 146,507,787 (GRCm39) |
L425S |
possibly damaging |
Het |
Tmem266 |
G |
T |
9: 55,322,239 (GRCm39) |
V112L |
probably damaging |
Het |
Tmem30c |
T |
A |
16: 57,090,539 (GRCm39) |
I223F |
possibly damaging |
Het |
Tomm70a |
G |
A |
16: 56,942,535 (GRCm39) |
G104D |
probably benign |
Het |
Ttc17 |
G |
T |
2: 94,163,148 (GRCm39) |
A834E |
probably benign |
Het |
Ttn |
C |
T |
2: 76,561,534 (GRCm39) |
V20664M |
probably damaging |
Het |
Zbed5 |
T |
C |
5: 129,931,020 (GRCm39) |
V323A |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAATGACCCAAGGACTGTGACAAC -3'
(R):5'- CCATCTGAGCTGCGGGTATTGAAG -3'
Sequencing Primer
(F):5'- AGGGCTTGTTCACCACTG -3'
(R):5'- CATGAACGGCTTTGCTCTGAG -3'
|
Posted On |
2013-09-30 |