Incidental Mutation 'R9343:Abtb2'
| ID |
715968 |
| 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 # |
R9343 (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 103547505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 960
(I960V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028608]
[ENSMUST00000076212]
|
| AlphaFold |
Q7TQI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028608
|
| SMART Domains |
Protein: ENSMUSP00000028608
Gene: ENSMUSG00000027185
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1726
|
107 |
201 |
6.9e-39 |
PFAM |
|
low complexity region
|
226 |
242 |
N/A |
INTRINSIC |
|
Pfam:Helicase_RecD
|
281 |
488 |
1.3e-68 |
PFAM |
|
Pfam:GNAT_acetyltr_2
|
528 |
753 |
7e-103 |
PFAM |
|
Pfam:tRNA_bind_2
|
771 |
892 |
3.6e-46 |
PFAM |
|
low complexity region
|
999 |
1024 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076212
AA Change: I960V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000075566
Gene: ENSMUSG00000032724
AA Change: I960V
| 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: 98.7%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
A |
G |
7: 80,742,079 (GRCm39) |
D632G |
probably benign |
Het |
| Aplp2 |
A |
T |
9: 31,122,935 (GRCm39) |
L30Q |
unknown |
Het |
| Axl |
A |
T |
7: 25,473,544 (GRCm39) |
Y361N |
probably damaging |
Het |
| Brinp2 |
A |
T |
1: 158,077,090 (GRCm39) |
|
probably benign |
Het |
| Bsn |
T |
C |
9: 107,992,701 (GRCm39) |
D1017G |
probably damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,875,999 (GRCm39) |
D1046V |
probably damaging |
Het |
| Cdc42bpg |
G |
A |
19: 6,364,553 (GRCm39) |
G594S |
probably damaging |
Het |
| Clcn6 |
A |
G |
4: 148,098,458 (GRCm39) |
S519P |
probably benign |
Het |
| Cnot2 |
T |
G |
10: 116,346,326 (GRCm39) |
H92P |
|
Het |
| Col2a1 |
T |
C |
15: 97,877,775 (GRCm39) |
D1049G |
probably damaging |
Het |
| Creld1 |
C |
T |
6: 113,466,728 (GRCm39) |
A237V |
probably benign |
Het |
| Csf2rb2 |
A |
T |
15: 78,171,287 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
G |
A |
15: 48,015,001 (GRCm39) |
T643I |
probably damaging |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Fcmr |
A |
T |
1: 130,802,072 (GRCm39) |
T109S |
|
Het |
| Grap |
C |
A |
11: 61,562,551 (GRCm39) |
P174Q |
possibly damaging |
Het |
| Itgb5 |
T |
A |
16: 33,730,826 (GRCm39) |
|
probably benign |
Het |
| Kidins220 |
A |
G |
12: 25,058,078 (GRCm39) |
N561S |
probably damaging |
Het |
| Mri1 |
A |
T |
8: 84,983,796 (GRCm39) |
S32T |
probably benign |
Het |
| Mrtfb |
T |
C |
16: 13,218,791 (GRCm39) |
V479A |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,569,971 (GRCm39) |
T344S |
possibly damaging |
Het |
| Npc1 |
A |
G |
18: 12,334,769 (GRCm39) |
I661T |
possibly damaging |
Het |
| Npy1r |
A |
G |
8: 67,156,751 (GRCm39) |
N57S |
probably damaging |
Het |
| Pds5b |
A |
G |
5: 150,704,186 (GRCm39) |
D863G |
probably damaging |
Het |
| Phf14 |
T |
A |
6: 11,961,563 (GRCm39) |
V400D |
probably damaging |
Het |
| Polr2l |
A |
G |
7: 141,053,246 (GRCm39) |
I56T |
probably benign |
Het |
| Ppat |
A |
G |
5: 77,063,884 (GRCm39) |
I422T |
probably benign |
Het |
| Prkcg |
T |
A |
7: 3,359,124 (GRCm39) |
S110R |
possibly damaging |
Het |
| Rab7b |
A |
T |
1: 131,639,540 (GRCm39) |
|
probably benign |
Het |
| Rnf152 |
A |
T |
1: 105,212,251 (GRCm39) |
L102Q |
|
Het |
| Samd12 |
A |
G |
15: 53,583,088 (GRCm39) |
V82A |
probably damaging |
Het |
| Serpina1e |
T |
A |
12: 103,917,299 (GRCm39) |
R123S |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,615,737 (GRCm39) |
N794I |
probably damaging |
Het |
| Surf6 |
T |
C |
2: 26,783,006 (GRCm39) |
K154R |
probably damaging |
Het |
| Tln2 |
C |
T |
9: 67,230,353 (GRCm39) |
A71T |
probably benign |
Het |
| Trim3 |
A |
G |
7: 105,260,673 (GRCm39) |
Y649H |
probably benign |
Het |
| Ttll7 |
T |
A |
3: 146,667,497 (GRCm39) |
W808R |
probably damaging |
Het |
| Tvp23a |
T |
C |
16: 10,245,287 (GRCm39) |
D104G |
probably damaging |
Het |
| Upp2 |
A |
G |
2: 58,645,339 (GRCm39) |
|
probably benign |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Vmn1r119 |
A |
G |
7: 20,746,358 (GRCm39) |
V8A |
probably benign |
Het |
| Vmn1r209 |
T |
A |
13: 22,990,546 (GRCm39) |
H48L |
probably damaging |
Het |
| Wdr11 |
T |
C |
7: 129,232,523 (GRCm39) |
|
probably null |
Het |
| Zcchc17 |
T |
C |
4: 130,210,546 (GRCm39) |
D207G |
probably damaging |
Het |
| Zfp78 |
T |
C |
7: 6,381,942 (GRCm39) |
S331P |
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 |
|
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'- GCCAGGGACTCATTAGTGTTC -3'
(R):5'- ACGTAGACAGAATGCACTCG -3'
Sequencing Primer
(F):5'- GTTCTTGGTGACACAACTGAGAC -3'
(R):5'- GTAGACAGAATGCACTCGCTCTG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation