Incidental Mutation 'R1419:Abtb2'
| ID |
159976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abtb2
|
| Ensembl Gene |
ENSMUSG00000032724 |
| Gene Name |
ankyrin repeat and BTB domain containing 2 |
| Synonyms |
BPOZ-2 |
| MMRRC Submission |
039475-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1419 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
103396655-103548768 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 103539765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 710
(R710L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076212]
|
| AlphaFold |
Q7TQI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076212
AA Change: R710L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000075566
Gene: ENSMUSG00000032724
AA Change: R710L
| 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: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
A |
7: 119,974,125 (GRCm39) |
M894K |
probably benign |
Het |
| Ablim1 |
C |
A |
19: 57,123,065 (GRCm39) |
C173F |
probably damaging |
Het |
| Arap3 |
T |
C |
18: 38,111,485 (GRCm39) |
T1144A |
possibly damaging |
Het |
| Arhgef12 |
A |
T |
9: 42,938,516 (GRCm39) |
V92D |
probably damaging |
Het |
| Ash1l |
T |
G |
3: 88,892,204 (GRCm39) |
M1361R |
probably damaging |
Het |
| Atm |
A |
C |
9: 53,368,789 (GRCm39) |
N2337K |
probably benign |
Het |
| Cog7 |
T |
C |
7: 121,555,215 (GRCm39) |
E316G |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,370,671 (GRCm39) |
Y858C |
probably damaging |
Het |
| Enc1 |
G |
T |
13: 97,382,692 (GRCm39) |
G401C |
probably damaging |
Het |
| Gata6 |
T |
C |
18: 11,064,706 (GRCm39) |
V506A |
probably benign |
Het |
| Gm16380 |
C |
T |
9: 53,791,471 (GRCm39) |
|
noncoding transcript |
Het |
| Hsd17b8 |
G |
A |
17: 34,246,617 (GRCm39) |
R89C |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ift80 |
T |
A |
3: 68,847,531 (GRCm39) |
N322Y |
probably damaging |
Het |
| Igsf9 |
T |
A |
1: 172,325,578 (GRCm39) |
V1082E |
probably damaging |
Het |
| Katnal2 |
A |
T |
18: 77,065,128 (GRCm39) |
L481Q |
possibly damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,417,710 (GRCm39) |
T713A |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 46,978,711 (GRCm39) |
T230A |
probably damaging |
Het |
| Klhl14 |
C |
A |
18: 21,785,250 (GRCm39) |
R59L |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,035,038 (GRCm39) |
C213R |
probably damaging |
Het |
| Mrpl13 |
T |
A |
15: 55,397,717 (GRCm39) |
M178L |
probably benign |
Het |
| Myof |
T |
C |
19: 37,890,359 (GRCm39) |
E1971G |
probably damaging |
Het |
| Naa10 |
A |
G |
X: 72,961,522 (GRCm39) |
V133A |
probably damaging |
Het |
| Nlrp4g |
G |
A |
9: 124,349,434 (GRCm38) |
|
noncoding transcript |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Oplah |
T |
C |
15: 76,182,120 (GRCm39) |
I1047V |
probably benign |
Het |
| Or4a15 |
T |
C |
2: 89,193,666 (GRCm39) |
T36A |
probably damaging |
Het |
| Or4k47 |
A |
T |
2: 111,451,640 (GRCm39) |
F260I |
probably benign |
Het |
| Or5al1 |
A |
G |
2: 85,989,773 (GRCm39) |
*314Q |
probably null |
Het |
| Paip1 |
A |
G |
13: 119,593,553 (GRCm39) |
D189G |
probably damaging |
Het |
| Pkn1 |
A |
G |
8: 84,400,151 (GRCm39) |
F624L |
probably damaging |
Het |
| Plxnb1 |
C |
A |
9: 108,943,454 (GRCm39) |
P1899H |
probably damaging |
Het |
| Rpa3 |
T |
A |
6: 8,257,720 (GRCm39) |
E47D |
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,064,457 (GRCm39) |
T826A |
possibly damaging |
Het |
| Snai2 |
C |
T |
16: 14,526,044 (GRCm39) |
H232Y |
possibly damaging |
Het |
| Spint5 |
T |
C |
2: 164,557,331 (GRCm39) |
S23P |
possibly damaging |
Het |
| St8sia2 |
G |
A |
7: 73,616,742 (GRCm39) |
Q78* |
probably null |
Het |
| Tktl2 |
A |
G |
8: 66,965,690 (GRCm39) |
N416S |
probably damaging |
Het |
| Tm7sf3 |
T |
A |
6: 146,505,475 (GRCm39) |
I494F |
possibly damaging |
Het |
| Trf |
C |
T |
9: 103,103,307 (GRCm39) |
V119M |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCAAGTGCAGAGCTATGACTCC -3'
(R):5'- TGCAGTGACTGTTCCCACATGTCC -3'
Sequencing Primer
(F):5'- atgactcCTCAGTCATACTAACAC -3'
(R):5'- CCATGGTGATGTCCAGGTAA -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation