Incidental Mutation 'R8200:Abtb2'
| ID |
635616 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abtb2
|
| Ensembl Gene |
ENSMUSG00000032724 |
| Gene Name |
ankyrin repeat and BTB domain containing 2 |
| Synonyms |
BPOZ-2 |
| MMRRC Submission |
067623-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8200 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
103396655-103548768 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103531162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 431
(I431V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076212]
|
| AlphaFold |
Q7TQI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076212
AA Change: I431V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000075566
Gene: ENSMUSG00000032724
AA Change: I431V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.3%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930555G01Rik |
T |
A |
14: 5,052,797 (GRCm38) |
M132K |
probably benign |
Het |
| Ache |
A |
G |
5: 137,292,457 (GRCm39) |
Q601R |
probably damaging |
Het |
| Ap3d1 |
A |
T |
10: 80,558,766 (GRCm39) |
C279* |
probably null |
Het |
| Brms1l |
T |
C |
12: 55,891,183 (GRCm39) |
L79P |
probably damaging |
Het |
| Brpf3 |
C |
T |
17: 29,025,248 (GRCm39) |
A107V |
probably benign |
Het |
| Catsperd |
T |
C |
17: 56,939,368 (GRCm39) |
|
probably null |
Het |
| Ccnb1ip1 |
C |
T |
14: 51,029,750 (GRCm39) |
R104H |
probably benign |
Het |
| Ces1g |
T |
A |
8: 94,055,085 (GRCm39) |
N204I |
probably damaging |
Het |
| Cmbl |
T |
C |
15: 31,585,539 (GRCm39) |
V141A |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,387,630 (GRCm39) |
H69Q |
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,905,524 (GRCm39) |
L4113P |
probably damaging |
Het |
| Fam120a |
T |
C |
13: 49,102,595 (GRCm39) |
H220R |
probably damaging |
Het |
| Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
| Gm43218 |
C |
T |
6: 70,217,528 (GRCm39) |
G76E |
probably damaging |
Het |
| Gypa |
A |
T |
8: 81,220,695 (GRCm39) |
T5S |
unknown |
Het |
| Hyal6 |
A |
G |
6: 24,734,565 (GRCm39) |
D166G |
probably benign |
Het |
| Immt |
T |
A |
6: 71,848,421 (GRCm39) |
V470D |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,371,826 (GRCm39) |
S1167G |
probably benign |
Het |
| Ndufs1 |
A |
T |
1: 63,209,331 (GRCm39) |
|
probably null |
Het |
| Nr1i3 |
C |
A |
1: 171,045,266 (GRCm39) |
H305N |
probably benign |
Het |
| Nucb2 |
T |
C |
7: 116,132,398 (GRCm39) |
|
probably null |
Het |
| Plau |
A |
C |
14: 20,889,181 (GRCm39) |
K130T |
possibly damaging |
Het |
| Ppef2 |
A |
T |
5: 92,393,251 (GRCm39) |
V246E |
probably benign |
Het |
| Prune2 |
G |
A |
19: 17,102,337 (GRCm39) |
V2499I |
probably benign |
Het |
| Rnf207 |
C |
T |
4: 152,398,492 (GRCm39) |
|
probably null |
Het |
| Septin9 |
A |
G |
11: 117,123,542 (GRCm39) |
T7A |
probably benign |
Het |
| Sh3bp5l |
T |
C |
11: 58,222,685 (GRCm39) |
I60T |
probably damaging |
Het |
| Taar9 |
A |
G |
10: 23,985,317 (GRCm39) |
L39P |
probably damaging |
Het |
| Tcl1b5 |
A |
T |
12: 105,145,212 (GRCm39) |
M59L |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Thap2 |
A |
T |
10: 115,212,392 (GRCm39) |
F44L |
|
Het |
| Trp53bp1 |
A |
G |
2: 121,066,657 (GRCm39) |
S690P |
probably benign |
Het |
| Ttc9 |
T |
C |
12: 81,707,435 (GRCm39) |
Y165H |
probably damaging |
Het |
| Ttll11 |
A |
G |
2: 35,834,940 (GRCm39) |
I162T |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 85,926,184 (GRCm39) |
I326N |
probably damaging |
Het |
| Tuft1 |
A |
T |
3: 94,523,977 (GRCm39) |
D292E |
probably damaging |
Het |
| Ubap2l |
T |
C |
3: 89,930,933 (GRCm39) |
S365G |
probably benign |
Het |
| Ugt2b37 |
G |
A |
5: 87,388,750 (GRCm39) |
Q488* |
probably null |
Het |
| Vmo1 |
A |
G |
11: 70,405,325 (GRCm39) |
V35A |
possibly damaging |
Het |
| Wdr36 |
A |
G |
18: 32,998,979 (GRCm39) |
K875R |
probably benign |
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 |
|
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 |
|
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'- ATTGGCACTGTCCTTTCATGG -3'
(R):5'- CCTACAGCCTTGCTCTGATG -3'
Sequencing Primer
(F):5'- GTCCTTTCATGGATAAAGCAGCGC -3'
(R):5'- TGCTCTGATGCCCACCCAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation