Incidental Mutation 'R8155:Abtb3'
ID |
633275 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abtb3
|
Ensembl Gene |
ENSMUSG00000020042 |
Gene Name |
ankyrin repeat and BTB domain containing 3 |
Synonyms |
Btbd11, 6330404E16Rik |
MMRRC Submission |
067581-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.136)
|
Stock # |
R8155 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
85222678-85496156 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 85476473 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100944
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020231]
[ENSMUST00000105306]
[ENSMUST00000105307]
|
AlphaFold |
Q6GQW0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020231
|
SMART Domains |
Protein: ENSMUSP00000020231 Gene: ENSMUSG00000020042
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 |
probably null
Transcript: ENSMUST00000105306
|
SMART Domains |
Protein: ENSMUSP00000100943 Gene: ENSMUSG00000020042
Domain | Start | End | E-Value | Type |
ANK
|
139 |
168 |
2.74e-7 |
SMART |
ANK
|
185 |
214 |
7.3e-3 |
SMART |
ANK
|
223 |
252 |
1.05e-3 |
SMART |
ANK
|
266 |
296 |
2.21e3 |
SMART |
BTB
|
459 |
558 |
5.38e-21 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000105307
|
SMART Domains |
Protein: ENSMUSP00000100944 Gene: ENSMUSG00000020042
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: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.9%
|
Validation Efficiency |
100% (62/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
G |
A |
1: 71,330,497 (GRCm39) |
T1386I |
probably damaging |
Het |
Abcb6 |
A |
T |
1: 75,151,413 (GRCm39) |
V504E |
probably damaging |
Het |
Adprhl1 |
C |
T |
8: 13,271,764 (GRCm39) |
A1665T |
probably damaging |
Het |
Arhgap32 |
T |
A |
9: 32,093,196 (GRCm39) |
L183H |
probably damaging |
Het |
Arhgef12 |
A |
G |
9: 42,953,958 (GRCm39) |
L24S |
probably damaging |
Het |
B3gnt4 |
C |
T |
5: 123,649,426 (GRCm39) |
H264Y |
possibly damaging |
Het |
Cfi |
A |
G |
3: 129,648,739 (GRCm39) |
T208A |
probably benign |
Het |
Chd4 |
T |
A |
6: 125,082,287 (GRCm39) |
F605Y |
probably benign |
Het |
Cimap1d |
A |
T |
10: 79,481,466 (GRCm39) |
V21E |
probably benign |
Het |
Clip1 |
A |
G |
5: 123,751,699 (GRCm39) |
L694P |
|
Het |
Crybb3 |
A |
T |
5: 113,225,466 (GRCm39) |
D135E |
probably damaging |
Het |
Ddx60 |
T |
A |
8: 62,470,205 (GRCm39) |
S1398T |
possibly damaging |
Het |
Dusp5 |
T |
A |
19: 53,529,537 (GRCm39) |
Y313* |
probably null |
Het |
Eloa |
A |
G |
4: 135,734,438 (GRCm39) |
V689A |
probably benign |
Het |
Ep300 |
T |
A |
15: 81,505,269 (GRCm39) |
Y630N |
unknown |
Het |
Galnt5 |
A |
T |
2: 57,889,427 (GRCm39) |
K342N |
probably benign |
Het |
Gm4841 |
A |
G |
18: 60,403,409 (GRCm39) |
V228A |
probably damaging |
Het |
Gna14 |
A |
T |
19: 16,576,338 (GRCm39) |
D115V |
probably benign |
Het |
Gpx5 |
T |
C |
13: 21,472,917 (GRCm39) |
D139G |
probably damaging |
Het |
Hmcn1 |
G |
T |
1: 150,480,705 (GRCm39) |
N4490K |
probably damaging |
Het |
Hsp90aa1 |
T |
C |
12: 110,661,828 (GRCm39) |
S63G |
unknown |
Het |
Itpkb |
T |
C |
1: 180,159,913 (GRCm39) |
I13T |
possibly damaging |
Het |
Itprid2 |
T |
C |
2: 79,475,177 (GRCm39) |
S379P |
probably benign |
Het |
Lamb2 |
C |
T |
9: 108,357,845 (GRCm39) |
R123W |
probably damaging |
Het |
Ldha |
A |
G |
7: 46,503,508 (GRCm39) |
H300R |
probably damaging |
Het |
Lrp2 |
A |
G |
2: 69,313,342 (GRCm39) |
L2463P |
possibly damaging |
Het |
Morf4l1 |
A |
G |
9: 89,977,225 (GRCm39) |
I232T |
probably damaging |
Het |
Mtg1 |
A |
G |
7: 139,724,622 (GRCm39) |
H166R |
probably benign |
Het |
Or14a260 |
A |
G |
7: 85,985,386 (GRCm39) |
S73P |
probably damaging |
Het |
Or2ad1 |
A |
G |
13: 21,327,062 (GRCm39) |
L55P |
probably damaging |
Het |
Or52r1 |
C |
T |
7: 102,536,452 (GRCm39) |
D303N |
probably benign |
Het |
Or5d46 |
A |
G |
2: 88,170,296 (GRCm39) |
N129S |
probably damaging |
Het |
Or6d12 |
T |
A |
6: 116,492,813 (GRCm39) |
V25E |
probably benign |
Het |
Or7g32 |
A |
T |
9: 19,389,453 (GRCm39) |
V31D |
probably benign |
Het |
Papss2 |
A |
G |
19: 32,618,742 (GRCm39) |
T267A |
probably benign |
Het |
Park7 |
G |
A |
4: 150,991,547 (GRCm39) |
R48C |
possibly damaging |
Het |
Pecr |
A |
G |
1: 72,309,443 (GRCm39) |
V199A |
probably damaging |
Het |
Pla2g10 |
G |
A |
16: 13,543,048 (GRCm39) |
R80W |
probably damaging |
Het |
Plek2 |
G |
A |
12: 78,943,066 (GRCm39) |
R77* |
probably null |
Het |
Psg23 |
A |
G |
7: 18,346,179 (GRCm39) |
L172P |
probably damaging |
Het |
Psg25 |
A |
C |
7: 18,260,445 (GRCm39) |
F151C |
probably benign |
Het |
Ptpn3 |
G |
T |
4: 57,232,336 (GRCm39) |
H433Q |
probably benign |
Het |
Rasal3 |
A |
G |
17: 32,616,381 (GRCm39) |
V294A |
possibly damaging |
Het |
Rnf6 |
T |
C |
5: 146,147,815 (GRCm39) |
D401G |
probably damaging |
Het |
Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Sema3d |
T |
C |
5: 12,498,148 (GRCm39) |
|
probably null |
Het |
Serpinb1c |
A |
T |
13: 33,081,038 (GRCm39) |
L15Q |
probably damaging |
Het |
Slfn3 |
T |
A |
11: 83,103,611 (GRCm39) |
Y161N |
probably damaging |
Het |
Spns2 |
T |
C |
11: 72,347,394 (GRCm39) |
M404V |
possibly damaging |
Het |
Stk39 |
T |
A |
2: 68,097,410 (GRCm39) |
I479L |
probably damaging |
Het |
Tbx15 |
C |
A |
3: 99,259,886 (GRCm39) |
Q586K |
possibly damaging |
Het |
Thap11 |
C |
T |
8: 106,582,854 (GRCm39) |
R288* |
probably null |
Het |
Tm7sf2 |
T |
A |
19: 6,114,125 (GRCm39) |
D236V |
probably damaging |
Het |
Tmem214 |
T |
C |
5: 31,029,136 (GRCm39) |
S192P |
possibly damaging |
Het |
Tnfaip3 |
A |
G |
10: 18,880,439 (GRCm39) |
S543P |
possibly damaging |
Het |
Traf3ip3 |
A |
G |
1: 192,860,524 (GRCm39) |
L466P |
probably damaging |
Het |
Tspan18 |
C |
T |
2: 93,040,357 (GRCm39) |
|
probably null |
Het |
Vmn1r229 |
T |
A |
17: 21,035,472 (GRCm39) |
L239Q |
probably damaging |
Het |
Vsig2 |
T |
C |
9: 37,455,329 (GRCm39) |
V293A |
possibly damaging |
Het |
Wdfy4 |
A |
T |
14: 32,884,776 (GRCm39) |
V42D |
|
Het |
Wnk2 |
G |
A |
13: 49,192,577 (GRCm39) |
P2055S |
unknown |
Het |
Zfp953 |
C |
A |
13: 67,491,535 (GRCm39) |
C139F |
probably damaging |
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 |
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 |
|
R9068:Abtb3
|
UTSW |
10 |
85,223,762 (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'- TCTATGCTCCAGGAGGACAG -3'
(R):5'- AGAGATTTACCACCTGCTGAAG -3'
Sequencing Primer
(F):5'- GAGCAGGTTTCTACAGTGTCAACC -3'
(R):5'- CTGCTGAAGGAGAACTCATTTC -3'
|
Posted On |
2020-06-30 |