Incidental Mutation 'R9675:Abtb2'
ID |
728287 |
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 # |
R9675 (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 103538532 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 654
(F654L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075566
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076212]
|
AlphaFold |
Q7TQI7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076212
AA Change: F654L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000075566 Gene: ENSMUSG00000032724 AA Change: F654L
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: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
G |
T |
5: 113,339,827 (GRCm39) |
P62T |
probably damaging |
Het |
Aadacl2fm3 |
C |
T |
3: 59,784,538 (GRCm39) |
T337I |
probably damaging |
Het |
Acta2 |
A |
T |
19: 34,223,612 (GRCm39) |
V161E |
|
Het |
Adamtsl1 |
A |
C |
4: 86,161,989 (GRCm39) |
Y374S |
probably damaging |
Het |
Apc |
A |
G |
18: 34,449,247 (GRCm39) |
K2048E |
probably damaging |
Het |
Arhgef4 |
C |
A |
1: 34,845,108 (GRCm39) |
D66E |
probably benign |
Het |
Arsj |
T |
A |
3: 126,231,765 (GRCm39) |
H170Q |
probably damaging |
Het |
Bmpr1b |
T |
C |
3: 141,563,321 (GRCm39) |
K208E |
probably benign |
Het |
Brd4 |
A |
T |
17: 32,433,786 (GRCm39) |
M459K |
unknown |
Het |
Btnl10 |
T |
A |
11: 58,814,442 (GRCm39) |
L374Q |
probably damaging |
Het |
Cadm1 |
C |
T |
9: 47,441,752 (GRCm39) |
R28W |
probably damaging |
Het |
Cts7 |
A |
T |
13: 61,504,371 (GRCm39) |
M64K |
probably benign |
Het |
Dmbt1 |
T |
C |
7: 130,712,652 (GRCm39) |
L1552P |
probably damaging |
Het |
Dnaaf6rt |
G |
A |
1: 31,262,644 (GRCm39) |
V209I |
probably benign |
Het |
Dock4 |
TGTGCCGGTGCCGGTGCCGGTGCCGGTGCC |
TGTGCCGGTGCCGGTGCCGGTGCCGGTGCCGGTGCC |
12: 40,894,379 (GRCm39) |
|
probably benign |
Het |
Dock4 |
TGCCGG |
TGCCGGAGCCGG |
12: 40,894,393 (GRCm39) |
|
probably benign |
Het |
Dusp4 |
G |
A |
8: 35,274,964 (GRCm39) |
G28S |
probably benign |
Het |
Fez2 |
A |
G |
17: 78,686,169 (GRCm39) |
C373R |
possibly damaging |
Het |
Fibin |
T |
C |
2: 110,192,495 (GRCm39) |
T216A |
probably benign |
Het |
Gad1 |
G |
A |
2: 70,416,200 (GRCm39) |
V220M |
probably damaging |
Het |
Hsd17b13 |
A |
G |
5: 104,111,709 (GRCm39) |
L278S |
probably benign |
Het |
Hyal5 |
G |
T |
6: 24,876,635 (GRCm39) |
E169D |
probably benign |
Het |
Ighv1-15 |
A |
T |
12: 114,620,981 (GRCm39) |
C115S |
probably damaging |
Het |
Msl2 |
T |
C |
9: 100,978,555 (GRCm39) |
S310P |
probably benign |
Het |
Mss51 |
A |
G |
14: 20,537,189 (GRCm39) |
M93T |
probably damaging |
Het |
Npas2 |
T |
C |
1: 39,364,446 (GRCm39) |
F263L |
probably damaging |
Het |
Ogfod2 |
T |
C |
5: 124,252,452 (GRCm39) |
V177A |
probably damaging |
Het |
Or1s2 |
T |
G |
19: 13,758,639 (GRCm39) |
V219G |
possibly damaging |
Het |
Or9a4 |
A |
G |
6: 40,548,559 (GRCm39) |
M80V |
possibly damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Pkd2l1 |
G |
T |
19: 44,137,696 (GRCm39) |
Q713K |
probably benign |
Het |
Rasgrp1 |
T |
A |
2: 117,173,190 (GRCm39) |
M1L |
probably benign |
Het |
Rnf167 |
T |
A |
11: 70,541,032 (GRCm39) |
H219Q |
possibly damaging |
Het |
Spatc1 |
T |
A |
15: 76,152,520 (GRCm39) |
I50N |
probably damaging |
Het |
Tcf20 |
T |
C |
15: 82,740,986 (GRCm39) |
Y155C |
probably damaging |
Het |
Tfpt |
T |
A |
7: 3,623,981 (GRCm39) |
D142V |
probably damaging |
Het |
Trp53bp1 |
A |
G |
2: 121,087,089 (GRCm39) |
V189A |
probably benign |
Het |
Ttbk2 |
T |
G |
2: 120,637,241 (GRCm39) |
Q141H |
probably benign |
Het |
Zbtb21 |
A |
G |
16: 97,752,945 (GRCm39) |
V474A |
probably 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 |
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 |
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'- CAATCTTGGAGACCCCATCTGC -3'
(R):5'- TGTCTCCAGGTCTCCAAAGTC -3'
Sequencing Primer
(F):5'- CATCTGCCCCACCTTGG -3'
(R):5'- AAAGTCTTGGGCCTCCATG -3'
|
Posted On |
2022-10-06 |