Incidental Mutation 'R5224:Abtb3'
ID |
402509 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abtb3
|
Ensembl Gene |
ENSMUSG00000020042 |
Gene Name |
ankyrin repeat and BTB domain containing 3 |
Synonyms |
Btbd11, 6330404E16Rik |
MMRRC Submission |
042797-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.129)
|
Stock # |
R5224 (G1)
|
Quality Score |
217 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
85222678-85496156 bp(+) (GRCm39) |
Type of Mutation |
small deletion (4 aa in frame mutation) |
DNA Base Change (assembly) |
CGTGACCTTTCTGGT to CGT
at 85481386 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 benign
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 benign
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128338
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145323
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156123
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
98% (58/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahi1 |
A |
G |
10: 20,862,921 (GRCm39) |
S699G |
probably damaging |
Het |
Atp10d |
C |
T |
5: 72,426,669 (GRCm39) |
A959V |
probably benign |
Het |
Axl |
T |
C |
7: 25,486,369 (GRCm39) |
M112V |
probably benign |
Het |
Brd10 |
A |
T |
19: 29,696,450 (GRCm39) |
S1014R |
possibly damaging |
Het |
Camk1g |
A |
T |
1: 193,037,342 (GRCm39) |
D119E |
probably damaging |
Het |
Capn8 |
A |
C |
1: 182,424,554 (GRCm39) |
N117T |
probably damaging |
Het |
Cct3 |
G |
A |
3: 88,204,532 (GRCm39) |
|
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,752,080 (GRCm39) |
T1293A |
possibly damaging |
Het |
Depdc1b |
A |
G |
13: 108,521,354 (GRCm39) |
D387G |
probably damaging |
Het |
Dtx3l |
A |
G |
16: 35,759,163 (GRCm39) |
Y29H |
possibly damaging |
Het |
Erp44 |
A |
T |
4: 48,279,435 (GRCm39) |
N2K |
probably benign |
Het |
Fmn1 |
A |
G |
2: 113,195,470 (GRCm39) |
E390G |
unknown |
Het |
Ganab |
T |
A |
19: 8,887,955 (GRCm39) |
D396E |
probably benign |
Het |
Gatd3a |
A |
G |
10: 77,999,367 (GRCm39) |
V148A |
probably damaging |
Het |
Gcc2 |
T |
A |
10: 58,121,982 (GRCm39) |
S1140T |
probably damaging |
Het |
Gm7008 |
T |
C |
12: 40,273,342 (GRCm39) |
|
probably benign |
Het |
Gphn |
T |
A |
12: 78,637,361 (GRCm39) |
F354I |
probably damaging |
Het |
H2-T7 |
G |
A |
17: 36,454,231 (GRCm39) |
|
noncoding transcript |
Het |
Hnrnpul1 |
G |
A |
7: 25,444,600 (GRCm39) |
T236M |
probably damaging |
Het |
Itpr2 |
T |
A |
6: 146,068,149 (GRCm39) |
M2410L |
probably benign |
Het |
Jaml |
T |
A |
9: 45,015,564 (GRCm39) |
M356K |
probably damaging |
Het |
Kbtbd12 |
T |
A |
6: 88,594,681 (GRCm39) |
|
probably benign |
Het |
Ldlrad3 |
G |
T |
2: 101,943,954 (GRCm39) |
N39K |
probably damaging |
Het |
Lrp1b |
G |
A |
2: 41,000,852 (GRCm39) |
T2238I |
possibly damaging |
Het |
Lypd8 |
T |
A |
11: 58,277,634 (GRCm39) |
C139S |
possibly damaging |
Het |
Masp1 |
G |
T |
16: 23,313,445 (GRCm39) |
H163Q |
probably damaging |
Het |
Mpo |
T |
C |
11: 87,687,283 (GRCm39) |
|
probably benign |
Het |
Muc19 |
A |
T |
15: 91,825,910 (GRCm39) |
|
noncoding transcript |
Het |
Muc5ac |
T |
A |
7: 141,347,708 (GRCm39) |
S438T |
probably benign |
Het |
Nav2 |
T |
C |
7: 49,201,473 (GRCm39) |
V160A |
probably benign |
Het |
Nlrc5 |
G |
T |
8: 95,220,944 (GRCm39) |
A1128S |
probably benign |
Het |
Nlrp5 |
T |
A |
7: 23,117,401 (GRCm39) |
L375Q |
probably damaging |
Het |
Nlrp9a |
A |
G |
7: 26,256,717 (GRCm39) |
T112A |
probably benign |
Het |
Nppa |
T |
C |
4: 148,085,773 (GRCm39) |
S127P |
probably damaging |
Het |
Or8k24 |
A |
G |
2: 86,216,193 (GRCm39) |
S190P |
possibly damaging |
Het |
Osbpl1a |
T |
C |
18: 13,066,753 (GRCm39) |
N2S |
probably benign |
Het |
Otoa |
A |
G |
7: 120,739,016 (GRCm39) |
T742A |
probably damaging |
Het |
Pcdh10 |
A |
G |
3: 45,347,249 (GRCm39) |
R1015G |
probably damaging |
Het |
Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
Plpp1 |
T |
A |
13: 112,988,046 (GRCm39) |
Y56* |
probably null |
Het |
Ppp1r12a |
A |
G |
10: 108,096,886 (GRCm39) |
T236A |
probably benign |
Het |
Rhag |
T |
C |
17: 41,139,395 (GRCm39) |
L110P |
probably damaging |
Het |
Scn11a |
T |
A |
9: 119,583,858 (GRCm39) |
N1586Y |
probably damaging |
Het |
Sgms2 |
T |
A |
3: 131,135,766 (GRCm39) |
K36I |
probably damaging |
Het |
Slc22a2 |
A |
G |
17: 12,805,719 (GRCm39) |
N157D |
probably damaging |
Het |
Stx19 |
T |
G |
16: 62,642,937 (GRCm39) |
M251R |
probably benign |
Het |
Suco |
A |
G |
1: 161,662,274 (GRCm39) |
I719T |
probably benign |
Het |
Tnr |
A |
G |
1: 159,750,885 (GRCm39) |
D1282G |
probably damaging |
Het |
Tram1 |
T |
C |
1: 13,648,349 (GRCm39) |
R154G |
probably benign |
Het |
Ubtfl1 |
G |
T |
9: 18,321,326 (GRCm39) |
V285L |
probably benign |
Het |
Ugt2b38 |
A |
G |
5: 87,571,601 (GRCm39) |
S144P |
probably benign |
Het |
Washc2 |
T |
G |
6: 116,185,965 (GRCm39) |
*58G |
probably null |
Het |
Zfp354a |
T |
A |
11: 50,960,876 (GRCm39) |
S362R |
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 |
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 |
|
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'- CTGTGATGAGCCATAATAATGCATC -3'
(R):5'- TCTGCTAGCCCAGTGACAAC -3'
Sequencing Primer
(F):5'- AATAATGCATCTGTCCTCCATGGG -3'
(R):5'- ATGAGGCCTTGGCTACAATC -3'
|
Posted On |
2016-07-22 |