Incidental Mutation 'IGL02486:Abtb3'
| ID |
295421 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Abtb3
|
| Ensembl Gene |
ENSMUSG00000020042 |
| Gene Name |
ankyrin repeat and BTB domain containing 3 |
| Synonyms |
Btbd11, 6330404E16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
IGL02486
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
85222678-85496156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 85476419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Histidine
at position 900
(P900H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020231]
[ENSMUST00000105306]
[ENSMUST00000105307]
|
| AlphaFold |
Q6GQW0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000020231
AA Change: P781H
|
| SMART Domains |
Protein: ENSMUSP00000020231
Gene: ENSMUSG00000020042
AA Change: P781H
| 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 damaging
Transcript: ENSMUST00000105306
AA Change: P431H
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000100943
Gene: ENSMUSG00000020042
AA Change: P431H
| 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 damaging
Transcript: ENSMUST00000105307
AA Change: P900H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100944
Gene: ENSMUSG00000020042
AA Change: P900H
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010106E10Rik |
T |
A |
X: 111,424,955 (GRCm39) |
N147K |
probably benign |
Het |
| Bcas1 |
T |
C |
2: 170,248,318 (GRCm39) |
D201G |
probably damaging |
Het |
| Bmp1 |
T |
A |
14: 70,742,216 (GRCm39) |
D333V |
possibly damaging |
Het |
| Capn6 |
T |
C |
X: 142,587,673 (GRCm39) |
E535G |
probably benign |
Het |
| Cdin1 |
T |
C |
2: 115,607,487 (GRCm39) |
V280A |
possibly damaging |
Het |
| Chac2 |
T |
C |
11: 30,927,625 (GRCm39) |
D86G |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,252,092 (GRCm39) |
|
probably benign |
Het |
| Daam1 |
T |
C |
12: 71,993,919 (GRCm39) |
|
probably benign |
Het |
| Elapor2 |
T |
A |
5: 9,472,323 (GRCm39) |
V340E |
probably benign |
Het |
| Eno4 |
A |
G |
19: 58,934,097 (GRCm39) |
|
probably null |
Het |
| Fat1 |
T |
C |
8: 45,478,109 (GRCm39) |
V2385A |
probably benign |
Het |
| Ffar4 |
T |
C |
19: 38,102,208 (GRCm39) |
I281T |
possibly damaging |
Het |
| Flcn |
C |
T |
11: 59,691,869 (GRCm39) |
W260* |
probably null |
Het |
| Fry |
T |
G |
5: 150,414,642 (GRCm39) |
S496A |
probably damaging |
Het |
| Gk |
T |
A |
X: 84,759,274 (GRCm39) |
I373F |
possibly damaging |
Het |
| Gpr108 |
T |
C |
17: 57,542,977 (GRCm39) |
N528S |
probably damaging |
Het |
| Hey1 |
T |
A |
3: 8,731,579 (GRCm39) |
R50W |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,807,287 (GRCm39) |
Y393C |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,310,107 (GRCm39) |
E3260D |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,414,927 (GRCm39) |
I1365T |
probably damaging |
Het |
| Letmd1 |
A |
G |
15: 100,372,992 (GRCm39) |
R31G |
probably damaging |
Het |
| Mak16 |
T |
C |
8: 31,650,614 (GRCm39) |
|
probably benign |
Het |
| Mapkapk3 |
C |
T |
9: 107,166,467 (GRCm39) |
G26D |
probably damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,925,844 (GRCm39) |
V603A |
possibly damaging |
Het |
| Myom1 |
G |
T |
17: 71,406,939 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
A |
2: 52,172,615 (GRCm39) |
N1564I |
possibly damaging |
Het |
| Nox1 |
C |
T |
X: 132,993,560 (GRCm39) |
G433D |
probably damaging |
Het |
| Or11h6 |
T |
C |
14: 50,880,089 (GRCm39) |
F111S |
probably damaging |
Het |
| Or2n1b |
T |
A |
17: 38,460,112 (GRCm39) |
L211Q |
probably damaging |
Het |
| Or51i2 |
T |
C |
7: 103,689,617 (GRCm39) |
S205P |
probably damaging |
Het |
| Or52m1 |
A |
T |
7: 102,289,627 (GRCm39) |
H58L |
probably damaging |
Het |
| Rcc2 |
T |
C |
4: 140,437,673 (GRCm39) |
W135R |
probably damaging |
Het |
| Rgl2 |
A |
G |
17: 34,154,954 (GRCm39) |
I205V |
probably damaging |
Het |
| Robo4 |
G |
A |
9: 37,319,670 (GRCm39) |
G640E |
probably damaging |
Het |
| Slc26a5 |
A |
G |
5: 22,051,323 (GRCm39) |
F64L |
probably damaging |
Het |
| Slc27a2 |
A |
G |
2: 126,395,270 (GRCm39) |
T66A |
probably benign |
Het |
| St18 |
T |
C |
1: 6,890,307 (GRCm39) |
S580P |
probably damaging |
Het |
| Syt15 |
G |
A |
14: 33,944,933 (GRCm39) |
R160K |
probably damaging |
Het |
| Tmem63b |
A |
G |
17: 45,984,909 (GRCm39) |
S200P |
probably damaging |
Het |
| Tnks |
T |
A |
8: 35,318,352 (GRCm39) |
N841I |
probably damaging |
Het |
| Tnr |
G |
A |
1: 159,679,664 (GRCm39) |
|
probably null |
Het |
| Unc13d |
A |
G |
11: 115,960,632 (GRCm39) |
|
probably benign |
Het |
| Usp4 |
T |
C |
9: 108,228,228 (GRCm39) |
L74P |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation