Incidental Mutation 'R3716:Abtb3'
| ID |
259919 |
| Institutional Source |
Beutler Lab
|
| 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: 0.136)
|
| Stock # |
R3716 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
85222678-85496156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 85397392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 442
(H442Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020231
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020231]
[ENSMUST00000105307]
|
| AlphaFold |
Q6GQW0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020231
AA Change: H442Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020231
Gene: ENSMUSG00000020042
AA Change: H442Y
| 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: ENSMUST00000105307
AA Change: H442Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100944
Gene: ENSMUSG00000020042
AA Change: H442Y
| 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: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
A |
T |
11: 48,910,363 (GRCm39) |
L690H |
probably damaging |
Het |
| Acaa1b |
A |
G |
9: 118,985,709 (GRCm39) |
V72A |
probably benign |
Het |
| Actl7a |
T |
C |
4: 56,744,295 (GRCm39) |
L274P |
possibly damaging |
Het |
| Ankrd50 |
T |
C |
3: 38,508,299 (GRCm39) |
E433G |
probably damaging |
Het |
| Ano6 |
A |
G |
15: 95,811,260 (GRCm39) |
D120G |
probably damaging |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Canx |
A |
G |
11: 50,195,301 (GRCm39) |
S256P |
probably benign |
Het |
| Caps2 |
A |
G |
10: 112,036,637 (GRCm39) |
H399R |
probably benign |
Het |
| Col6a6 |
A |
C |
9: 105,659,373 (GRCm39) |
L524R |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dglucy |
A |
T |
12: 100,816,375 (GRCm39) |
N339I |
probably damaging |
Het |
| Dhrs4 |
G |
T |
14: 55,716,362 (GRCm39) |
M1I |
probably null |
Het |
| Disp1 |
A |
T |
1: 182,869,315 (GRCm39) |
L1035Q |
probably damaging |
Het |
| Ephb1 |
T |
C |
9: 102,071,999 (GRCm39) |
E260G |
probably damaging |
Het |
| Fetub |
T |
A |
16: 22,754,443 (GRCm39) |
C217S |
probably damaging |
Het |
| Firrm |
T |
C |
1: 163,784,457 (GRCm39) |
I779M |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,479,781 (GRCm39) |
S1971G |
probably damaging |
Het |
| Gria2 |
A |
G |
3: 80,648,311 (GRCm39) |
Y142H |
possibly damaging |
Het |
| Hivep1 |
C |
T |
13: 42,311,971 (GRCm39) |
H1404Y |
probably damaging |
Het |
| Il21r |
A |
G |
7: 125,231,441 (GRCm39) |
K290E |
probably damaging |
Het |
| Inpp5f |
C |
G |
7: 128,292,394 (GRCm39) |
L17V |
probably damaging |
Het |
| Kcnh3 |
A |
G |
15: 99,130,646 (GRCm39) |
N421S |
possibly damaging |
Het |
| Krt33a |
A |
C |
11: 99,904,991 (GRCm39) |
C172G |
probably benign |
Het |
| Lrp6 |
A |
T |
6: 134,484,410 (GRCm39) |
H404Q |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,367,295 (GRCm39) |
T924A |
probably benign |
Het |
| Mepe |
C |
A |
5: 104,485,294 (GRCm39) |
H145N |
probably benign |
Het |
| Mesp2 |
T |
G |
7: 79,462,542 (GRCm39) |
L366R |
possibly damaging |
Het |
| Mink1 |
T |
A |
11: 70,498,587 (GRCm39) |
L584Q |
probably damaging |
Het |
| Mms19 |
A |
G |
19: 41,933,174 (GRCm39) |
V997A |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,561,407 (GRCm39) |
E612G |
probably benign |
Het |
| Myo15b |
G |
T |
11: 115,754,239 (GRCm39) |
C913F |
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,378,368 (GRCm39) |
I1653K |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,167,482 (GRCm39) |
E1948G |
probably damaging |
Het |
| Nelfcd |
T |
C |
2: 174,264,798 (GRCm39) |
V179A |
possibly damaging |
Het |
| Obscn |
C |
T |
11: 58,973,487 (GRCm39) |
C2157Y |
probably damaging |
Het |
| Or8i2 |
A |
T |
2: 86,852,707 (GRCm39) |
Y60* |
probably null |
Het |
| Orc1 |
C |
T |
4: 108,471,656 (GRCm39) |
A836V |
probably damaging |
Het |
| Pcdhb6 |
G |
T |
18: 37,469,259 (GRCm39) |
V43L |
probably benign |
Het |
| Prkcd |
G |
T |
14: 30,321,669 (GRCm39) |
D393E |
probably benign |
Het |
| Rb1cc1 |
G |
C |
1: 6,340,914 (GRCm39) |
|
probably null |
Het |
| Rp1 |
T |
A |
1: 4,419,988 (GRCm39) |
T375S |
probably benign |
Het |
| Slc9c1 |
A |
T |
16: 45,400,582 (GRCm39) |
M731L |
probably benign |
Het |
| Sox21 |
A |
T |
14: 118,472,842 (GRCm39) |
M69K |
probably benign |
Het |
| Spata18 |
A |
T |
5: 73,824,193 (GRCm39) |
|
probably null |
Het |
| Taok1 |
A |
G |
11: 77,432,636 (GRCm39) |
F726L |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,575,558 (GRCm39) |
P25112S |
probably damaging |
Het |
| Ubac1 |
C |
T |
2: 25,904,953 (GRCm39) |
R95H |
probably damaging |
Het |
| Usp32 |
A |
G |
11: 84,933,389 (GRCm39) |
Y40H |
probably damaging |
Het |
| Usp37 |
A |
T |
1: 74,532,145 (GRCm39) |
S83T |
possibly damaging |
Het |
| Vps13d |
A |
G |
4: 144,802,296 (GRCm39) |
I405T |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCATCAGTGCTTCAGATC -3'
(R):5'- TTCTGTGATGCTCGGAAGTC -3'
Sequencing Primer
(F):5'- AGTGCTTCAGATCATCCCTGACAG -3'
(R):5'- GTCAGGCAAGACGTACCTTTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation