Incidental Mutation 'R3915:Abtb3'
| ID |
309604 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abtb3
|
| Ensembl Gene |
ENSMUSG00000020042 |
| Gene Name |
ankyrin repeat and BTB domain containing 3 |
| Synonyms |
Btbd11, 6330404E16Rik |
| MMRRC Submission |
040913-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R3915 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
85222678-85496156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 85468134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 810
(H810N)
|
| 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 damaging
Transcript: ENSMUST00000105306
AA Change: H341N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100943
Gene: ENSMUSG00000020042
AA Change: H341N
| 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: H810N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100944
Gene: ENSMUSG00000020042
AA Change: H810N
| 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: ENSMUST00000145323
|
| Meta Mutation Damage Score |
0.2460 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
G |
A |
5: 3,627,248 (GRCm39) |
V75I |
possibly damaging |
Het |
| AA986860 |
A |
G |
1: 130,670,344 (GRCm39) |
K189E |
probably benign |
Het |
| Abcf1 |
C |
T |
17: 36,270,402 (GRCm39) |
R596H |
possibly damaging |
Het |
| Axl |
T |
C |
7: 25,460,169 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,886,603 (GRCm39) |
K644E |
probably benign |
Het |
| Btnl7-ps |
T |
A |
17: 34,760,489 (GRCm39) |
|
noncoding transcript |
Het |
| Car8 |
A |
T |
4: 8,184,576 (GRCm39) |
|
probably benign |
Het |
| Ccdc62 |
C |
T |
5: 124,092,778 (GRCm39) |
R588C |
probably damaging |
Het |
| Clasp2 |
T |
G |
9: 113,737,805 (GRCm39) |
S374A |
probably damaging |
Het |
| Ctnnb1 |
A |
G |
9: 120,784,717 (GRCm39) |
H503R |
probably benign |
Het |
| Cwf19l2 |
A |
G |
9: 3,456,776 (GRCm39) |
H703R |
probably damaging |
Het |
| Efcab7 |
A |
T |
4: 99,735,375 (GRCm39) |
Q133L |
probably damaging |
Het |
| Ehmt2 |
T |
C |
17: 35,122,443 (GRCm39) |
S280P |
probably damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,420 (GRCm39) |
T294S |
probably benign |
Het |
| Eomes |
A |
G |
9: 118,310,341 (GRCm39) |
M351V |
probably benign |
Het |
| Ets2 |
G |
A |
16: 95,520,037 (GRCm39) |
R421H |
probably damaging |
Het |
| Fam222b |
C |
G |
11: 78,045,756 (GRCm39) |
P439R |
probably benign |
Het |
| Gbp11 |
T |
A |
5: 105,478,978 (GRCm39) |
K153N |
probably damaging |
Het |
| Golim4 |
T |
C |
3: 75,810,634 (GRCm39) |
T174A |
probably damaging |
Het |
| Grid1 |
A |
G |
14: 35,242,684 (GRCm39) |
Y679C |
probably damaging |
Het |
| Gvin-ps5 |
A |
G |
7: 105,929,445 (GRCm39) |
S151P |
probably benign |
Het |
| Ikzf3 |
T |
C |
11: 98,381,412 (GRCm39) |
D56G |
probably damaging |
Het |
| Kcnj16 |
A |
G |
11: 110,916,382 (GRCm39) |
D348G |
probably benign |
Het |
| Kidins220 |
T |
C |
12: 25,103,957 (GRCm39) |
L1319P |
possibly damaging |
Het |
| Lrp1b |
T |
A |
2: 41,339,248 (GRCm39) |
D751V |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,410,551 (GRCm39) |
C440R |
probably benign |
Het |
| Mbd2 |
T |
C |
18: 70,755,680 (GRCm39) |
V382A |
probably benign |
Het |
| Or13a17 |
T |
A |
7: 140,270,888 (GRCm39) |
D23E |
probably benign |
Het |
| Or51a25 |
C |
T |
7: 102,373,409 (GRCm39) |
R96H |
possibly damaging |
Het |
| Or6c68 |
G |
A |
10: 129,158,178 (GRCm39) |
A229T |
probably benign |
Het |
| Pgs1 |
T |
G |
11: 117,910,472 (GRCm39) |
S528A |
probably benign |
Het |
| Pitpnm3 |
T |
C |
11: 72,003,110 (GRCm39) |
T67A |
probably damaging |
Het |
| Pnliprp2 |
T |
G |
19: 58,748,794 (GRCm39) |
V33G |
probably damaging |
Het |
| Ptn |
T |
C |
6: 36,720,282 (GRCm39) |
N90S |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 161,397,475 (GRCm39) |
|
probably benign |
Het |
| Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
| Rasgrp1 |
G |
A |
2: 117,119,122 (GRCm39) |
S505F |
probably damaging |
Het |
| Sesn1 |
G |
A |
10: 41,770,886 (GRCm39) |
R139H |
probably benign |
Het |
| Slc17a7 |
T |
A |
7: 44,818,144 (GRCm39) |
L23Q |
probably damaging |
Het |
| Slc30a10 |
G |
T |
1: 185,187,333 (GRCm39) |
E25* |
probably null |
Het |
| Smco1 |
A |
G |
16: 32,092,583 (GRCm39) |
I85V |
probably benign |
Het |
| Vmn1r76 |
A |
T |
7: 11,664,496 (GRCm39) |
S239R |
probably benign |
Het |
| Zc3h7a |
A |
T |
16: 10,974,074 (GRCm39) |
V237D |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCCACTTCCATCTCTGAGTG -3'
(R):5'- ATGTTCTAGCCAGTGAAGGAG -3'
Sequencing Primer
(F):5'- GAATGTGTTCCGCAAACTGC -3'
(R):5'- GGAGAAGCTCCTTAAGGCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation