Incidental Mutation 'R5513:Abtb2'
ID |
440160 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abtb2
|
Ensembl Gene |
ENSMUSG00000032724 |
Gene Name |
ankyrin repeat and BTB domain containing 2 |
Synonyms |
BPOZ-2 |
MMRRC Submission |
043073-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5513 (G1)
|
Quality Score |
203 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
103396655-103548768 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to T
at 103539623 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075566
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076212]
|
AlphaFold |
Q7TQI7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000076212
|
SMART Domains |
Protein: ENSMUSP00000075566 Gene: ENSMUSG00000032724
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 |
|
Meta Mutation Damage Score |
0.9491 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
97% (59/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1b1 |
C |
A |
6: 34,293,581 (GRCm39) |
|
probably benign |
Het |
Alppl2 |
T |
A |
1: 87,015,060 (GRCm39) |
N434Y |
probably benign |
Het |
Ampd2 |
A |
G |
3: 107,982,983 (GRCm39) |
I648T |
possibly damaging |
Het |
Ankrd11 |
T |
C |
8: 123,619,259 (GRCm39) |
E1510G |
probably benign |
Het |
Ano2 |
A |
C |
6: 126,016,285 (GRCm39) |
K939N |
possibly damaging |
Het |
Arhgef5 |
A |
G |
6: 43,249,273 (GRCm39) |
Y8C |
probably damaging |
Het |
Aspm |
A |
T |
1: 139,410,136 (GRCm39) |
I2609F |
probably damaging |
Het |
Camsap2 |
A |
T |
1: 136,208,601 (GRCm39) |
S964T |
probably benign |
Het |
Cd22 |
C |
T |
7: 30,566,450 (GRCm39) |
R823Q |
probably damaging |
Het |
Cd74 |
T |
C |
18: 60,944,377 (GRCm39) |
C196R |
probably damaging |
Het |
Cfap73 |
A |
T |
5: 120,769,777 (GRCm39) |
I82N |
probably damaging |
Het |
Cidec |
A |
T |
6: 113,405,140 (GRCm39) |
Y177N |
probably damaging |
Het |
Crb1 |
C |
T |
1: 139,164,559 (GRCm39) |
|
probably null |
Het |
Cts7 |
T |
C |
13: 61,503,398 (GRCm39) |
K189E |
possibly damaging |
Het |
Cyp2c68 |
A |
T |
19: 39,691,850 (GRCm39) |
Y358N |
probably damaging |
Het |
Dab2ip |
A |
T |
2: 35,600,266 (GRCm39) |
H294L |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,167,402 (GRCm39) |
D502G |
probably null |
Het |
Dnah8 |
T |
A |
17: 30,971,890 (GRCm39) |
M2768K |
probably damaging |
Het |
Etl4 |
C |
A |
2: 20,748,638 (GRCm39) |
S405R |
probably damaging |
Het |
Fsip2 |
G |
T |
2: 82,781,252 (GRCm39) |
L19F |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,815,542 (GRCm39) |
N3758K |
possibly damaging |
Het |
Fsip2 |
C |
G |
2: 82,781,256 (GRCm39) |
Q217E |
probably benign |
Het |
Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
Hivep2 |
A |
T |
10: 14,008,417 (GRCm39) |
K1672* |
probably null |
Het |
Igkv2-137 |
G |
A |
6: 67,532,998 (GRCm39) |
G54S |
possibly damaging |
Het |
Ints8 |
A |
G |
4: 11,248,303 (GRCm39) |
V105A |
possibly damaging |
Het |
Lrba |
C |
T |
3: 86,449,948 (GRCm39) |
S2089F |
probably damaging |
Het |
Lrrc8b |
A |
G |
5: 105,633,850 (GRCm39) |
K774R |
probably damaging |
Het |
Mcm4 |
T |
A |
16: 15,448,378 (GRCm39) |
Y393F |
probably benign |
Het |
Mki67 |
A |
G |
7: 135,309,479 (GRCm39) |
L324P |
probably damaging |
Het |
Or4d6 |
A |
G |
19: 12,086,745 (GRCm39) |
L55P |
probably damaging |
Het |
Or52n3 |
A |
T |
7: 104,530,706 (GRCm39) |
H264L |
probably damaging |
Het |
Or5a3 |
G |
A |
19: 12,400,047 (GRCm39) |
V125I |
probably benign |
Het |
Or9s13 |
T |
C |
1: 92,548,102 (GRCm39) |
V158A |
probably benign |
Het |
Pld4 |
A |
G |
12: 112,728,988 (GRCm39) |
E19G |
probably benign |
Het |
Plvap |
T |
C |
8: 71,964,173 (GRCm39) |
E63G |
probably damaging |
Het |
Ppig |
A |
G |
2: 69,580,703 (GRCm39) |
T746A |
probably benign |
Het |
Prdm2 |
GCTCCTCCTCCTCCTCCTCCTCCTC |
GCTCCTCCTCCTCCTCCTCCTC |
4: 142,862,463 (GRCm39) |
|
probably benign |
Het |
Rbm15b |
A |
G |
9: 106,763,316 (GRCm39) |
L284P |
probably benign |
Het |
Relch |
G |
A |
1: 105,678,698 (GRCm39) |
V1130I |
probably damaging |
Het |
Rhbdl3 |
T |
C |
11: 80,222,668 (GRCm39) |
V239A |
probably damaging |
Het |
Sae1 |
T |
C |
7: 16,100,781 (GRCm39) |
E197G |
probably benign |
Het |
Sdhaf2 |
C |
T |
19: 10,494,394 (GRCm39) |
R105H |
probably damaging |
Het |
Senp3 |
T |
C |
11: 69,567,965 (GRCm39) |
D425G |
probably benign |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Slc46a1 |
T |
C |
11: 78,357,376 (GRCm39) |
F143S |
probably benign |
Het |
Tom1 |
T |
A |
8: 75,783,848 (GRCm39) |
N52K |
probably damaging |
Het |
Vmn1r11 |
A |
T |
6: 57,114,617 (GRCm39) |
T94S |
probably damaging |
Het |
Zfp236 |
A |
G |
18: 82,676,147 (GRCm39) |
I390T |
probably damaging |
Het |
Zfp709 |
A |
T |
8: 72,643,900 (GRCm39) |
H443L |
probably damaging |
Het |
Zfp960 |
C |
T |
17: 17,307,996 (GRCm39) |
P237S |
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 |
IGL02605:Abtb2
|
APN |
2 |
103,547,602 (GRCm39) |
missense |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGATCACACAGCCAAGTGC -3'
(R):5'- GTAGTACATGGCTTCCTGCAG -3'
Sequencing Primer
(F):5'- AGTGCAGAGCTATGACTCCTCAG -3'
(R):5'- TGCAGGGCCTTCGTTCG -3'
|
Posted On |
2016-11-08 |