Incidental Mutation 'IGL02605:Abtb2'
ID |
300223 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Abtb2
|
Ensembl Gene |
ENSMUSG00000032724 |
Gene Name |
ankyrin repeat and BTB domain containing 2 |
Synonyms |
BPOZ-2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02605
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
103396655-103548768 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 103547602 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 992
(Y992F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075566
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028608]
[ENSMUST00000076212]
|
AlphaFold |
Q7TQI7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028608
|
SMART Domains |
Protein: ENSMUSP00000028608 Gene: ENSMUSG00000027185
Domain | Start | End | E-Value | Type |
Pfam:DUF1726
|
107 |
201 |
6.9e-39 |
PFAM |
low complexity region
|
226 |
242 |
N/A |
INTRINSIC |
Pfam:Helicase_RecD
|
281 |
488 |
1.3e-68 |
PFAM |
Pfam:GNAT_acetyltr_2
|
528 |
753 |
7e-103 |
PFAM |
Pfam:tRNA_bind_2
|
771 |
892 |
3.6e-46 |
PFAM |
low complexity region
|
999 |
1024 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000076212
AA Change: Y992F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000075566 Gene: ENSMUSG00000032724 AA Change: Y992F
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
48 |
N/A |
INTRINSIC |
low complexity region
|
122 |
143 |
N/A |
INTRINSIC |
Blast:H2A
|
186 |
301 |
2e-38 |
BLAST |
low complexity region
|
366 |
376 |
N/A |
INTRINSIC |
ANK
|
521 |
550 |
4.78e-7 |
SMART |
ANK
|
567 |
596 |
6.26e-2 |
SMART |
ANK
|
606 |
635 |
3.65e-3 |
SMART |
ANK
|
649 |
678 |
5.52e2 |
SMART |
ANK
|
715 |
746 |
1.84e3 |
SMART |
BTB
|
844 |
946 |
9.15e-24 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131122
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132135
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133016
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137050
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138580
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143017
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144590
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg6 |
T |
A |
10: 14,342,976 (GRCm39) |
N324Y |
probably damaging |
Het |
Ampd3 |
T |
C |
7: 110,394,965 (GRCm39) |
F305L |
probably benign |
Het |
Ankrd35 |
A |
G |
3: 96,588,388 (GRCm39) |
|
probably null |
Het |
Api5 |
A |
G |
2: 94,260,064 (GRCm39) |
I64T |
possibly damaging |
Het |
Arhgap21 |
A |
G |
2: 20,860,399 (GRCm39) |
I1165T |
probably damaging |
Het |
Bdp1 |
T |
C |
13: 100,214,623 (GRCm39) |
|
probably null |
Het |
Capn3 |
T |
A |
2: 120,326,518 (GRCm39) |
I570N |
probably damaging |
Het |
Catsperg2 |
T |
C |
7: 29,418,990 (GRCm39) |
H232R |
possibly damaging |
Het |
Clcn7 |
T |
C |
17: 25,365,792 (GRCm39) |
L156P |
possibly damaging |
Het |
Cpa3 |
C |
A |
3: 20,276,376 (GRCm39) |
V286F |
probably benign |
Het |
Csrnp3 |
G |
A |
2: 65,853,153 (GRCm39) |
C527Y |
probably damaging |
Het |
Dock5 |
A |
T |
14: 68,065,887 (GRCm39) |
V372E |
probably benign |
Het |
Elmo1 |
T |
C |
13: 20,789,372 (GRCm39) |
L696P |
probably damaging |
Het |
Fam91a1 |
T |
C |
15: 58,303,045 (GRCm39) |
|
probably benign |
Het |
Gm12695 |
T |
A |
4: 96,650,988 (GRCm39) |
D155V |
probably null |
Het |
Hspa4l |
A |
G |
3: 40,736,055 (GRCm39) |
I559V |
probably benign |
Het |
Kdm1a |
G |
T |
4: 136,278,348 (GRCm39) |
|
probably benign |
Het |
Lrrc8d |
A |
T |
5: 105,974,683 (GRCm39) |
|
noncoding transcript |
Het |
Minpp1 |
A |
T |
19: 32,475,815 (GRCm39) |
Y316F |
possibly damaging |
Het |
Neto2 |
T |
C |
8: 86,390,064 (GRCm39) |
|
probably benign |
Het |
Nrxn2 |
T |
A |
19: 6,500,610 (GRCm39) |
D277E |
probably benign |
Het |
Ola1 |
A |
G |
2: 72,972,644 (GRCm39) |
|
probably benign |
Het |
Or4k48 |
A |
G |
2: 111,475,850 (GRCm39) |
V164A |
probably benign |
Het |
Or51r1 |
T |
C |
7: 102,228,602 (GRCm39) |
I300T |
probably damaging |
Het |
Or8c15 |
T |
A |
9: 38,120,532 (GRCm39) |
M61K |
probably damaging |
Het |
Pam |
A |
G |
1: 97,768,064 (GRCm39) |
V722A |
possibly damaging |
Het |
Pfdn6 |
T |
C |
17: 34,158,077 (GRCm39) |
Y90C |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,621,126 (GRCm39) |
H844L |
possibly damaging |
Het |
Plk5 |
G |
A |
10: 80,198,896 (GRCm39) |
V422M |
probably damaging |
Het |
Psmc1 |
G |
T |
12: 100,085,386 (GRCm39) |
R249L |
probably damaging |
Het |
Ptpro |
C |
T |
6: 137,357,316 (GRCm39) |
P269L |
probably benign |
Het |
Ralgapa1 |
G |
T |
12: 55,759,450 (GRCm39) |
H1480Q |
possibly damaging |
Het |
Rars1 |
G |
A |
11: 35,715,353 (GRCm39) |
|
probably benign |
Het |
Rbm48 |
G |
A |
5: 3,640,600 (GRCm39) |
R260C |
possibly damaging |
Het |
Smarcc1 |
C |
T |
9: 110,051,068 (GRCm39) |
H963Y |
possibly damaging |
Het |
Spef2 |
T |
C |
15: 9,725,238 (GRCm39) |
E230G |
probably damaging |
Het |
Spg11 |
A |
G |
2: 121,922,741 (GRCm39) |
S903P |
probably benign |
Het |
Tas2r122 |
T |
C |
6: 132,688,572 (GRCm39) |
Y107C |
probably damaging |
Het |
Tpm3 |
C |
A |
3: 89,995,753 (GRCm39) |
N204K |
probably benign |
Het |
Wdr36 |
T |
C |
18: 32,985,044 (GRCm39) |
I450T |
possibly damaging |
Het |
|
Other mutations in Abtb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01161:Abtb2
|
APN |
2 |
103,535,463 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03161:Abtb2
|
APN |
2 |
103,397,799 (GRCm39) |
missense |
probably benign |
0.02 |
PIT4504001:Abtb2
|
UTSW |
2 |
103,547,537 (GRCm39) |
nonsense |
probably null |
|
R0147:Abtb2
|
UTSW |
2 |
103,397,480 (GRCm39) |
missense |
probably benign |
0.04 |
R1052:Abtb2
|
UTSW |
2 |
103,535,417 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1419:Abtb2
|
UTSW |
2 |
103,539,765 (GRCm39) |
missense |
probably benign |
0.00 |
R1518:Abtb2
|
UTSW |
2 |
103,539,629 (GRCm39) |
missense |
probably benign |
0.03 |
R1650:Abtb2
|
UTSW |
2 |
103,532,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R1795:Abtb2
|
UTSW |
2 |
103,397,369 (GRCm39) |
missense |
probably benign |
0.00 |
R2054:Abtb2
|
UTSW |
2 |
103,535,462 (GRCm39) |
missense |
probably benign |
0.41 |
R2101:Abtb2
|
UTSW |
2 |
103,397,207 (GRCm39) |
missense |
probably benign |
0.05 |
R2363:Abtb2
|
UTSW |
2 |
103,397,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R3440:Abtb2
|
UTSW |
2 |
103,397,577 (GRCm39) |
missense |
probably benign |
0.43 |
R3927:Abtb2
|
UTSW |
2 |
103,538,563 (GRCm39) |
splice site |
probably null |
|
R4351:Abtb2
|
UTSW |
2 |
103,513,738 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4352:Abtb2
|
UTSW |
2 |
103,513,738 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4782:Abtb2
|
UTSW |
2 |
103,547,644 (GRCm39) |
missense |
probably benign |
0.35 |
R4814:Abtb2
|
UTSW |
2 |
103,547,632 (GRCm39) |
missense |
probably benign |
0.08 |
R4831:Abtb2
|
UTSW |
2 |
103,513,820 (GRCm39) |
missense |
probably benign |
0.06 |
R4900:Abtb2
|
UTSW |
2 |
103,397,349 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5038:Abtb2
|
UTSW |
2 |
103,397,408 (GRCm39) |
missense |
probably damaging |
0.99 |
R5513:Abtb2
|
UTSW |
2 |
103,539,623 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6119:Abtb2
|
UTSW |
2 |
103,532,655 (GRCm39) |
missense |
probably benign |
0.00 |
R6298:Abtb2
|
UTSW |
2 |
103,539,833 (GRCm39) |
missense |
probably benign |
0.10 |
R6383:Abtb2
|
UTSW |
2 |
103,397,721 (GRCm39) |
missense |
probably damaging |
0.98 |
R6860:Abtb2
|
UTSW |
2 |
103,539,770 (GRCm39) |
nonsense |
probably null |
|
R7000:Abtb2
|
UTSW |
2 |
103,542,787 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7109:Abtb2
|
UTSW |
2 |
103,545,860 (GRCm39) |
missense |
probably benign |
0.20 |
R7176:Abtb2
|
UTSW |
2 |
103,539,720 (GRCm39) |
missense |
probably benign |
0.00 |
R7189:Abtb2
|
UTSW |
2 |
103,397,861 (GRCm39) |
missense |
probably benign |
0.00 |
R7199:Abtb2
|
UTSW |
2 |
103,397,565 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7299:Abtb2
|
UTSW |
2 |
103,532,769 (GRCm39) |
splice site |
probably null |
|
R7347:Abtb2
|
UTSW |
2 |
103,397,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R7469:Abtb2
|
UTSW |
2 |
103,397,292 (GRCm39) |
missense |
probably benign |
0.00 |
R7629:Abtb2
|
UTSW |
2 |
103,513,838 (GRCm39) |
critical splice donor site |
probably null |
|
R7862:Abtb2
|
UTSW |
2 |
103,532,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R8200:Abtb2
|
UTSW |
2 |
103,531,162 (GRCm39) |
missense |
probably benign |
0.02 |
R8682:Abtb2
|
UTSW |
2 |
103,397,720 (GRCm39) |
missense |
probably benign |
0.36 |
R8700:Abtb2
|
UTSW |
2 |
103,397,289 (GRCm39) |
missense |
probably damaging |
0.99 |
R9164:Abtb2
|
UTSW |
2 |
103,541,829 (GRCm39) |
missense |
possibly damaging |
0.50 |
R9196:Abtb2
|
UTSW |
2 |
103,513,647 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9254:Abtb2
|
UTSW |
2 |
103,541,580 (GRCm39) |
missense |
probably benign |
0.00 |
R9258:Abtb2
|
UTSW |
2 |
103,546,410 (GRCm39) |
missense |
probably null |
0.99 |
R9343:Abtb2
|
UTSW |
2 |
103,547,505 (GRCm39) |
missense |
probably benign |
|
R9427:Abtb2
|
UTSW |
2 |
103,531,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R9675:Abtb2
|
UTSW |
2 |
103,538,532 (GRCm39) |
missense |
probably benign |
|
Z1176:Abtb2
|
UTSW |
2 |
103,538,517 (GRCm39) |
nonsense |
probably null |
|
Z1177:Abtb2
|
UTSW |
2 |
103,541,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |