Incidental Mutation 'R7109:Abtb2'
| ID |
551377 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abtb2
|
| Ensembl Gene |
ENSMUSG00000032724 |
| Gene Name |
ankyrin repeat and BTB domain containing 2 |
| Synonyms |
BPOZ-2 |
| MMRRC Submission |
045201-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7109 (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 103545860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 903
(Y903H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076212]
|
| AlphaFold |
Q7TQI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076212
AA Change: Y903H
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000075566
Gene: ENSMUSG00000032724
AA Change: Y903H
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
G |
2: 151,315,673 (GRCm39) |
K2Q |
probably damaging |
Het |
| Adamtsl3 |
C |
T |
7: 82,261,069 (GRCm39) |
P29S |
|
Het |
| Alcam |
T |
A |
16: 52,097,192 (GRCm39) |
T355S |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,516,522 (GRCm39) |
V404A |
probably benign |
Het |
| Bst2 |
A |
G |
8: 71,989,926 (GRCm39) |
F49S |
possibly damaging |
Het |
| C1qtnf9 |
G |
C |
14: 61,017,019 (GRCm39) |
W183S |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,648,087 (GRCm39) |
I132V |
possibly damaging |
Het |
| Cchcr1 |
T |
A |
17: 35,828,838 (GRCm39) |
|
probably null |
Het |
| Cenpk |
A |
G |
13: 104,367,256 (GRCm39) |
K31E |
probably benign |
Het |
| Cfap221 |
T |
C |
1: 119,853,301 (GRCm39) |
K798E |
possibly damaging |
Het |
| Copb2 |
T |
A |
9: 98,463,333 (GRCm39) |
|
probably null |
Het |
| Dennd1a |
T |
A |
2: 37,938,804 (GRCm39) |
Y102F |
probably damaging |
Het |
| Eif2ak4 |
C |
T |
2: 118,235,532 (GRCm39) |
P88S |
probably damaging |
Het |
| Epha6 |
C |
A |
16: 59,503,031 (GRCm39) |
V959F |
probably damaging |
Het |
| Fam193a |
C |
A |
5: 34,623,165 (GRCm39) |
T1251K |
possibly damaging |
Het |
| Herc1 |
A |
T |
9: 66,389,171 (GRCm39) |
Q3896L |
probably benign |
Het |
| Ikbip |
C |
A |
10: 90,919,090 (GRCm39) |
D34E |
probably benign |
Het |
| Insr |
A |
G |
8: 3,308,481 (GRCm39) |
V185A |
probably benign |
Het |
| Jakmip1 |
C |
T |
5: 37,332,109 (GRCm39) |
Q930* |
probably null |
Het |
| Klc1 |
A |
G |
12: 111,743,299 (GRCm39) |
I209V |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,648,985 (GRCm39) |
L1660M |
probably damaging |
Het |
| Mbd3l1 |
G |
T |
9: 18,396,210 (GRCm39) |
D112Y |
possibly damaging |
Het |
| Mrps2 |
T |
A |
2: 28,358,258 (GRCm39) |
V16E |
probably benign |
Het |
| Ncoa1 |
G |
A |
12: 4,372,978 (GRCm39) |
T141I |
possibly damaging |
Het |
| Ndst2 |
G |
T |
14: 20,779,911 (GRCm39) |
R110S |
probably damaging |
Het |
| Nlrp2 |
A |
G |
7: 5,331,616 (GRCm39) |
V260A |
probably damaging |
Het |
| Or4d10 |
A |
G |
19: 12,051,576 (GRCm39) |
I140T |
probably benign |
Het |
| Or51a6 |
A |
T |
7: 102,604,460 (GRCm39) |
V116E |
probably damaging |
Het |
| Or5p1 |
A |
G |
7: 107,916,959 (GRCm39) |
N286S |
probably damaging |
Het |
| Or7g16 |
A |
T |
9: 18,726,904 (GRCm39) |
S229T |
probably benign |
Het |
| Pah |
T |
C |
10: 87,406,148 (GRCm39) |
V262A |
probably damaging |
Het |
| Pcnt |
T |
G |
10: 76,205,738 (GRCm39) |
E2538A |
probably damaging |
Het |
| Pdxk |
T |
A |
10: 78,282,810 (GRCm39) |
I162F |
probably damaging |
Het |
| Plod2 |
T |
C |
9: 92,455,650 (GRCm39) |
F110L |
probably damaging |
Het |
| Pm20d2 |
A |
T |
4: 33,187,186 (GRCm39) |
L154Q |
probably damaging |
Het |
| Podxl2 |
C |
T |
6: 88,820,566 (GRCm39) |
V445I |
possibly damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,719,235 (GRCm39) |
W560R |
probably benign |
Het |
| Rasal3 |
A |
G |
17: 32,611,683 (GRCm39) |
S815P |
probably damaging |
Het |
| Rdm1 |
A |
G |
11: 101,524,654 (GRCm39) |
K196E |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,181,286 (GRCm39) |
D79G |
possibly damaging |
Het |
| Slc22a21 |
A |
G |
11: 53,870,329 (GRCm39) |
Y119H |
possibly damaging |
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Synrg |
C |
A |
11: 83,930,498 (GRCm39) |
A1280E |
possibly damaging |
Het |
| Szt2 |
A |
G |
4: 118,232,676 (GRCm39) |
C2396R |
unknown |
Het |
| Trappc3 |
A |
G |
4: 126,167,726 (GRCm39) |
N95S |
probably benign |
Het |
| Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,113,681 (GRCm39) |
D633E |
probably benign |
Het |
| Wasl |
G |
A |
6: 24,633,186 (GRCm39) |
P151S |
probably benign |
Het |
| Wwp2 |
A |
G |
8: 108,209,988 (GRCm39) |
N122S |
probably benign |
Het |
| Zfp51 |
A |
G |
17: 21,683,831 (GRCm39) |
R149G |
possibly damaging |
Het |
| Zfp764 |
A |
G |
7: 127,003,887 (GRCm39) |
S415P |
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 |
|
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 |
|
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'- CCTGCTTTGGAATAACAAACCAG -3'
(R):5'- GGTGTGCCTGATACCTGTTC -3'
Sequencing Primer
(F):5'- GAGTGACTTGAGGCAAGACATCTTC -3'
(R):5'- GCAGAAGTGCCCTTACACATG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation