Incidental Mutation 'R9427:Abtb2'
| ID |
712657 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abtb2
|
| Ensembl Gene |
ENSMUSG00000032724 |
| Gene Name |
ankyrin repeat and BTB domain containing 2 |
| Synonyms |
BPOZ-2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9427 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
103396655-103548768 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103531244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 458
(L458P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076212]
|
| AlphaFold |
Q7TQI7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076212
AA Change: L458P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000075566
Gene: ENSMUSG00000032724
AA Change: L458P
| 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: 99.6%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
T |
C |
3: 148,526,068 (GRCm39) |
N130S |
|
Het |
| Adgrv1 |
T |
C |
13: 81,732,234 (GRCm39) |
S161G |
probably benign |
Het |
| Aldh1l1 |
A |
G |
6: 90,536,903 (GRCm39) |
D153G |
probably benign |
Het |
| Arhgap20 |
G |
A |
9: 51,754,991 (GRCm39) |
S444N |
probably damaging |
Het |
| Bpifc |
A |
G |
10: 85,812,129 (GRCm39) |
F360L |
probably benign |
Het |
| Cacna1s |
A |
T |
1: 136,012,090 (GRCm39) |
I511F |
probably benign |
Het |
| Chdh |
G |
A |
14: 29,758,806 (GRCm39) |
V584I |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,589,445 (GRCm39) |
R1037G |
probably benign |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
T |
C |
9: 105,816,992 (GRCm39) |
N440D |
unknown |
Het |
| Dsel |
A |
T |
1: 111,787,425 (GRCm39) |
Y1037N |
probably damaging |
Het |
| Eloa |
A |
G |
4: 135,748,935 (GRCm39) |
M1T |
probably null |
Het |
| Elp2 |
C |
G |
18: 24,755,560 (GRCm39) |
P436A |
probably damaging |
Het |
| Etv5 |
A |
C |
16: 22,218,112 (GRCm39) |
S328A |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 16,288,691 (GRCm39) |
Y277* |
probably null |
Het |
| Fbxo38 |
A |
T |
18: 62,644,160 (GRCm39) |
H899Q |
probably benign |
Het |
| Fstl5 |
T |
C |
3: 76,229,583 (GRCm39) |
V128A |
|
Het |
| Gm3371 |
T |
C |
14: 44,641,066 (GRCm39) |
E166G |
|
Het |
| Herc6 |
T |
C |
6: 57,636,722 (GRCm39) |
S813P |
probably damaging |
Het |
| Ifnlr1 |
G |
A |
4: 135,426,142 (GRCm39) |
G75D |
probably damaging |
Het |
| Kbtbd2 |
A |
T |
6: 56,756,132 (GRCm39) |
C535S |
probably damaging |
Het |
| Lgr5 |
A |
C |
10: 115,288,913 (GRCm39) |
L577W |
probably damaging |
Het |
| Limk1 |
A |
T |
5: 134,686,358 (GRCm39) |
D590E |
probably benign |
Het |
| Lnpep |
A |
T |
17: 17,795,609 (GRCm39) |
S301T |
probably benign |
Het |
| Lrch1 |
A |
C |
14: 75,032,787 (GRCm39) |
V521G |
probably benign |
Het |
| Lrrc71 |
T |
C |
3: 87,650,368 (GRCm39) |
H235R |
probably benign |
Het |
| Mttp |
A |
G |
3: 137,820,962 (GRCm39) |
S282P |
probably benign |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Or2t1 |
G |
A |
14: 14,328,456 (GRCm38) |
G115D |
probably damaging |
Het |
| Or55b10 |
T |
A |
7: 102,143,206 (GRCm39) |
T259S |
probably benign |
Het |
| Or5a3 |
T |
C |
19: 12,399,889 (GRCm39) |
V72A |
|
Het |
| Or5m13 |
T |
C |
2: 85,748,704 (GRCm39) |
V145A |
probably benign |
Het |
| Or7a41 |
C |
T |
10: 78,871,395 (GRCm39) |
T255I |
probably damaging |
Het |
| Or7c70 |
A |
G |
10: 78,682,906 (GRCm39) |
V281A |
probably damaging |
Het |
| Pira12 |
T |
G |
7: 3,897,284 (GRCm39) |
|
probably null |
Het |
| Ppfia3 |
T |
C |
7: 45,008,213 (GRCm39) |
Q219R |
possibly damaging |
Het |
| Prdm5 |
T |
A |
6: 65,771,321 (GRCm39) |
M44K |
possibly damaging |
Het |
| Psmc5 |
T |
C |
11: 106,153,303 (GRCm39) |
I315T |
probably damaging |
Het |
| Ptprd |
T |
A |
4: 76,051,440 (GRCm39) |
E27V |
probably benign |
Het |
| Rft1 |
T |
A |
14: 30,411,781 (GRCm39) |
I443N |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Slco1a5 |
A |
G |
6: 142,214,001 (GRCm39) |
M40T |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,069,804 (GRCm39) |
T2661A |
possibly damaging |
Het |
| Tigit |
T |
C |
16: 43,482,515 (GRCm39) |
D73G |
probably benign |
Het |
| Tmem237 |
G |
A |
1: 59,159,213 (GRCm39) |
|
probably benign |
Het |
| Trim42 |
T |
C |
9: 97,247,874 (GRCm39) |
D274G |
probably damaging |
Het |
| Trmt61a |
C |
A |
12: 111,647,490 (GRCm39) |
L196I |
probably damaging |
Het |
| Tspan8 |
T |
C |
10: 115,669,213 (GRCm39) |
C83R |
probably damaging |
Het |
| Ttc7 |
CCTGCTGCTGCTGCTGCTG |
CCTGCTGCTGCTGCTG |
17: 87,678,147 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Unc80 |
G |
A |
1: 66,594,158 (GRCm39) |
G1179E |
probably damaging |
Het |
| Vmn2r2 |
A |
G |
3: 64,041,945 (GRCm39) |
S257P |
probably damaging |
Het |
| Xpo6 |
G |
T |
7: 125,748,418 (GRCm39) |
Y404* |
probably null |
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 |
|
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 |
|
|
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'- TCTGTGTGCAGGGAACACTG -3'
(R):5'- GGGTAGCACTACAGCAATTACAG -3'
Sequencing Primer
(F):5'- GGGAACACTGCACCCAG -3'
(R):5'- CACTTGGCTATGGGGGATATGAAC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation