Incidental Mutation 'R9068:Abtb3'
| ID |
689381 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abtb3
|
| Ensembl Gene |
ENSMUSG00000020042 |
| Gene Name |
ankyrin repeat and BTB domain containing 3 |
| Synonyms |
Btbd11, 6330404E16Rik |
| MMRRC Submission |
068892-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R9068 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
85222678-85496156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 85223762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 190
(N190K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020231]
[ENSMUST00000105307]
|
| AlphaFold |
Q6GQW0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000020231
AA Change: N190K
|
| SMART Domains |
Protein: ENSMUSP00000020231
Gene: ENSMUSG00000020042
AA Change: N190K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
101 |
109 |
N/A |
INTRINSIC |
|
Blast:H2B
|
122 |
173 |
3e-9 |
BLAST |
|
low complexity region
|
174 |
194 |
N/A |
INTRINSIC |
|
Blast:H2A
|
195 |
261 |
6e-37 |
BLAST |
|
low complexity region
|
262 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
344 |
N/A |
INTRINSIC |
|
Blast:H2A
|
350 |
384 |
9e-16 |
BLAST |
|
ANK
|
608 |
637 |
2.74e-7 |
SMART |
|
ANK
|
654 |
683 |
7.3e-3 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000105307
AA Change: N190K
|
| SMART Domains |
Protein: ENSMUSP00000100944
Gene: ENSMUSG00000020042
AA Change: N190K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
101 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
194 |
N/A |
INTRINSIC |
|
Blast:H2A
|
195 |
261 |
5e-37 |
BLAST |
|
low complexity region
|
262 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
344 |
N/A |
INTRINSIC |
|
Blast:H2A
|
350 |
384 |
1e-15 |
BLAST |
|
ANK
|
608 |
637 |
2.74e-7 |
SMART |
|
ANK
|
654 |
683 |
7.3e-3 |
SMART |
|
ANK
|
692 |
721 |
1.05e-3 |
SMART |
|
ANK
|
735 |
765 |
2.21e3 |
SMART |
|
BTB
|
928 |
1027 |
5.38e-21 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (57/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
C |
6: 23,075,828 (GRCm39) |
I770V |
probably benign |
Het |
| Actr10 |
T |
C |
12: 70,989,073 (GRCm39) |
L64S |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,177,343 (GRCm39) |
T589A |
probably benign |
Het |
| Akr1b7 |
T |
C |
6: 34,395,977 (GRCm39) |
S160P |
probably damaging |
Het |
| Ankrd52 |
C |
T |
10: 128,217,850 (GRCm39) |
H277Y |
probably damaging |
Het |
| Cc2d1b |
T |
A |
4: 108,482,062 (GRCm39) |
L112Q |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,773,750 (GRCm39) |
|
probably benign |
Het |
| Clec3a |
A |
G |
8: 115,152,375 (GRCm39) |
D127G |
probably damaging |
Het |
| Cnnm3 |
T |
C |
1: 36,551,962 (GRCm39) |
L324P |
probably damaging |
Het |
| Cspp1 |
T |
C |
1: 10,147,469 (GRCm39) |
|
probably null |
Het |
| Cwf19l1 |
C |
T |
19: 44,124,274 (GRCm39) |
|
probably benign |
Het |
| Cyp26b1 |
G |
A |
6: 84,551,379 (GRCm39) |
T470I |
probably damaging |
Het |
| Dedd2 |
A |
G |
7: 24,917,092 (GRCm39) |
V110A |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,975,729 (GRCm39) |
I2866M |
possibly damaging |
Het |
| Dpp10 |
T |
C |
1: 123,360,667 (GRCm39) |
Y286C |
probably damaging |
Het |
| Efna2 |
C |
T |
10: 80,024,524 (GRCm39) |
P177L |
probably damaging |
Het |
| Fbxo46 |
A |
G |
7: 18,869,325 (GRCm39) |
|
probably benign |
Het |
| Gdpd5 |
A |
T |
7: 99,108,048 (GRCm39) |
T542S |
probably benign |
Het |
| Gm136 |
T |
G |
4: 34,750,928 (GRCm39) |
D115A |
possibly damaging |
Het |
| Gm7356 |
T |
A |
17: 14,221,687 (GRCm39) |
K114I |
possibly damaging |
Het |
| Gpr180 |
G |
T |
14: 118,385,658 (GRCm39) |
E157* |
probably null |
Het |
| Grk4 |
T |
C |
5: 34,905,653 (GRCm39) |
I466T |
|
Het |
| Hic1 |
A |
G |
11: 75,060,332 (GRCm39) |
M5T |
unknown |
Het |
| Hmcn2 |
C |
A |
2: 31,303,685 (GRCm39) |
N3058K |
probably benign |
Het |
| Htr5a |
T |
A |
5: 28,055,799 (GRCm39) |
H263Q |
probably benign |
Het |
| Lrrc7 |
T |
C |
3: 157,946,138 (GRCm39) |
K187R |
probably benign |
Het |
| Map3k8 |
A |
T |
18: 4,340,557 (GRCm39) |
H252Q |
probably benign |
Het |
| Muc4 |
CAC |
CACTAC |
16: 32,575,367 (GRCm39) |
|
probably benign |
Het |
| Naa16 |
A |
T |
14: 79,612,289 (GRCm39) |
M233K |
probably benign |
Het |
| Napsa |
A |
T |
7: 44,235,223 (GRCm39) |
D336V |
probably damaging |
Het |
| Neurod1 |
T |
A |
2: 79,285,218 (GRCm39) |
N55I |
possibly damaging |
Het |
| Or10d5 |
A |
T |
9: 39,862,087 (GRCm39) |
|
probably benign |
Het |
| Or4c115 |
A |
T |
2: 88,927,369 (GRCm39) |
C301S |
probably benign |
Het |
| Or5an9 |
T |
C |
19: 12,187,703 (GRCm39) |
F258L |
probably damaging |
Het |
| Or8b12 |
T |
A |
9: 37,657,963 (GRCm39) |
C178S |
probably damaging |
Het |
| Pcdha8 |
G |
T |
18: 37,127,323 (GRCm39) |
G602C |
probably damaging |
Het |
| Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pigr |
G |
A |
1: 130,774,231 (GRCm39) |
V404M |
probably damaging |
Het |
| Plch1 |
G |
A |
3: 63,612,036 (GRCm39) |
P803L |
probably damaging |
Het |
| Ppp4r3b |
T |
A |
11: 29,159,396 (GRCm39) |
F583L |
probably benign |
Het |
| Rit2 |
A |
T |
18: 31,108,468 (GRCm39) |
D172E |
possibly damaging |
Het |
| Skint4 |
C |
T |
4: 112,022,932 (GRCm39) |
P476S |
possibly damaging |
Het |
| Slco2b1 |
A |
G |
7: 99,320,171 (GRCm39) |
V353A |
probably benign |
Het |
| Slit3 |
A |
G |
11: 35,574,917 (GRCm39) |
D1077G |
probably damaging |
Het |
| Sun2 |
A |
G |
15: 79,612,252 (GRCm39) |
F478L |
probably benign |
Het |
| Syt6 |
C |
A |
3: 103,494,825 (GRCm39) |
C263* |
probably null |
Het |
| Tfpi |
C |
A |
2: 84,273,235 (GRCm39) |
L229F |
unknown |
Het |
| Tmem131l |
A |
T |
3: 83,817,775 (GRCm39) |
C1242S |
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,204,219 (GRCm39) |
W280R |
probably damaging |
Het |
| Uncx |
A |
G |
5: 139,532,573 (GRCm39) |
K213E |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,232,875 (GRCm39) |
L887P |
probably benign |
Het |
| Vmn1r178 |
A |
T |
7: 23,593,404 (GRCm39) |
I151F |
probably damaging |
Het |
| Vmn2r50 |
G |
T |
7: 9,772,061 (GRCm39) |
Q547K |
possibly damaging |
Het |
| Vwf |
A |
G |
6: 125,625,792 (GRCm39) |
|
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,000,451 (GRCm39) |
V2973D |
probably benign |
Het |
| Zbtb49 |
T |
C |
5: 38,358,289 (GRCm39) |
M655V |
probably benign |
Het |
| Zc3h3 |
C |
T |
15: 75,711,499 (GRCm39) |
A321T |
probably benign |
Het |
| Zeb2 |
T |
A |
2: 45,000,040 (GRCm39) |
R65W |
possibly damaging |
Het |
| Zfp541 |
A |
G |
7: 15,812,376 (GRCm39) |
E343G |
probably damaging |
Het |
| Zfp775 |
C |
A |
6: 48,597,151 (GRCm39) |
R342S |
probably damaging |
Het |
| Zwilch |
A |
G |
9: 64,075,942 (GRCm39) |
F27L |
probably benign |
Het |
|
| Other mutations in Abtb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00666:Abtb3
|
APN |
10 |
85,465,080 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01143:Abtb3
|
APN |
10 |
85,490,335 (GRCm39) |
splice site |
probably benign |
|
|
IGL01365:Abtb3
|
APN |
10 |
85,469,680 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01409:Abtb3
|
APN |
10 |
85,494,029 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01531:Abtb3
|
APN |
10 |
85,465,069 (GRCm39) |
splice site |
probably benign |
|
|
IGL01593:Abtb3
|
APN |
10 |
85,490,339 (GRCm39) |
splice site |
probably benign |
|
|
IGL01751:Abtb3
|
APN |
10 |
85,490,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01752:Abtb3
|
APN |
10 |
85,490,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02041:Abtb3
|
APN |
10 |
85,223,418 (GRCm39) |
missense |
unknown |
|
|
IGL02486:Abtb3
|
APN |
10 |
85,476,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02597:Abtb3
|
APN |
10 |
85,469,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02957:Abtb3
|
APN |
10 |
85,467,150 (GRCm39) |
splice site |
probably benign |
|
|
IGL02957:Abtb3
|
APN |
10 |
85,469,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02967:Abtb3
|
APN |
10 |
85,469,646 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02975:Abtb3
|
APN |
10 |
85,467,207 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL03078:Abtb3
|
APN |
10 |
85,468,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03130:Abtb3
|
APN |
10 |
85,224,347 (GRCm39) |
splice site |
probably null |
|
|
IGL03335:Abtb3
|
APN |
10 |
85,494,222 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0024:Abtb3
|
UTSW |
10 |
85,223,311 (GRCm39) |
missense |
unknown |
|
|
R0599:Abtb3
|
UTSW |
10 |
85,494,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0655:Abtb3
|
UTSW |
10 |
85,481,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0660:Abtb3
|
UTSW |
10 |
85,224,234 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0664:Abtb3
|
UTSW |
10 |
85,224,234 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1155:Abtb3
|
UTSW |
10 |
85,465,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1244:Abtb3
|
UTSW |
10 |
85,223,227 (GRCm39) |
missense |
unknown |
|
|
R1389:Abtb3
|
UTSW |
10 |
85,476,460 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1418:Abtb3
|
UTSW |
10 |
85,481,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1703:Abtb3
|
UTSW |
10 |
85,223,248 (GRCm39) |
missense |
unknown |
|
|
R1957:Abtb3
|
UTSW |
10 |
85,469,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2519:Abtb3
|
UTSW |
10 |
85,487,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3716:Abtb3
|
UTSW |
10 |
85,397,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3915:Abtb3
|
UTSW |
10 |
85,468,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4738:Abtb3
|
UTSW |
10 |
85,463,112 (GRCm39) |
nonsense |
probably null |
|
|
R4782:Abtb3
|
UTSW |
10 |
85,490,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4846:Abtb3
|
UTSW |
10 |
85,465,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4887:Abtb3
|
UTSW |
10 |
85,223,242 (GRCm39) |
missense |
unknown |
|
|
R4960:Abtb3
|
UTSW |
10 |
85,487,526 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5224:Abtb3
|
UTSW |
10 |
85,481,386 (GRCm39) |
small deletion |
probably benign |
|
|
R5341:Abtb3
|
UTSW |
10 |
85,223,236 (GRCm39) |
missense |
unknown |
|
|
R5713:Abtb3
|
UTSW |
10 |
85,487,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6046:Abtb3
|
UTSW |
10 |
85,223,947 (GRCm39) |
missense |
unknown |
|
|
R6461:Abtb3
|
UTSW |
10 |
85,476,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6809:Abtb3
|
UTSW |
10 |
85,467,240 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7069:Abtb3
|
UTSW |
10 |
85,223,520 (GRCm39) |
missense |
unknown |
|
|
R7130:Abtb3
|
UTSW |
10 |
85,223,419 (GRCm39) |
missense |
unknown |
|
|
R7202:Abtb3
|
UTSW |
10 |
85,223,629 (GRCm39) |
missense |
unknown |
|
|
R7275:Abtb3
|
UTSW |
10 |
85,490,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7489:Abtb3
|
UTSW |
10 |
85,463,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7743:Abtb3
|
UTSW |
10 |
85,460,813 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7873:Abtb3
|
UTSW |
10 |
85,466,989 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8155:Abtb3
|
UTSW |
10 |
85,476,473 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8306:Abtb3
|
UTSW |
10 |
85,434,409 (GRCm39) |
nonsense |
probably null |
|
|
R8812:Abtb3
|
UTSW |
10 |
85,463,113 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8891:Abtb3
|
UTSW |
10 |
85,223,958 (GRCm39) |
missense |
unknown |
|
|
R9800:Abtb3
|
UTSW |
10 |
85,224,079 (GRCm39) |
missense |
unknown |
|
|
X0020:Abtb3
|
UTSW |
10 |
85,467,216 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Z1088:Abtb3
|
UTSW |
10 |
85,223,721 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACAGCTTTGACACCGTC -3'
(R):5'- CCGGAAGAGACTCTCCATACAG -3'
Sequencing Primer
(F):5'- CCAAGCTCTCGATGCTGGTAAG -3'
(R):5'- AGACTCTCCATACAGGCGGTC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation