Incidental Mutation 'R9800:Abtb3'
| ID |
735168 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abtb3
|
| Ensembl Gene |
ENSMUSG00000020042 |
| Gene Name |
ankyrin repeat and BTB domain containing 3 |
| Synonyms |
Btbd11, 6330404E16Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R9800 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
85222678-85496156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 85224079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 296
(A296E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020231]
[ENSMUST00000105307]
|
| AlphaFold |
Q6GQW0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000020231
AA Change: A296E
|
| SMART Domains |
Protein: ENSMUSP00000020231
Gene: ENSMUSG00000020042
AA Change: A296E
| 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 |
unknown
Transcript: ENSMUST00000105307
AA Change: A296E
|
| SMART Domains |
Protein: ENSMUSP00000100944
Gene: ENSMUSG00000020042
AA Change: A296E
| 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: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
A |
7: 120,119,283 (GRCm39) |
I1009N |
possibly damaging |
Het |
| Adcy8 |
T |
A |
15: 64,571,095 (GRCm39) |
N1213Y |
probably benign |
Het |
| Ahctf1 |
T |
C |
1: 179,581,433 (GRCm39) |
S1590G |
possibly damaging |
Het |
| Ahcyl1 |
A |
T |
3: 107,577,588 (GRCm39) |
N277K |
probably damaging |
Het |
| Ank2 |
A |
T |
3: 126,740,149 (GRCm39) |
S1912T |
unknown |
Het |
| Ank3 |
T |
A |
10: 69,733,957 (GRCm39) |
N740K |
unknown |
Het |
| Atp13a3 |
A |
C |
16: 30,159,051 (GRCm39) |
I800S |
probably benign |
Het |
| AU041133 |
T |
A |
10: 81,986,679 (GRCm39) |
C111S |
probably damaging |
Het |
| Azi2 |
T |
A |
9: 117,884,924 (GRCm39) |
I211N |
probably benign |
Het |
| Camk2b |
T |
C |
11: 5,922,408 (GRCm39) |
N480S |
probably damaging |
Het |
| Card6 |
A |
G |
15: 5,128,702 (GRCm39) |
V898A |
probably benign |
Het |
| Copb2 |
T |
A |
9: 98,461,081 (GRCm39) |
M381K |
probably damaging |
Het |
| Cplx3 |
T |
C |
9: 57,523,060 (GRCm39) |
D133G |
probably damaging |
Het |
| Crisp1 |
A |
T |
17: 40,616,071 (GRCm39) |
M102K |
probably damaging |
Het |
| Dcxr |
A |
T |
11: 120,618,084 (GRCm39) |
|
probably benign |
Het |
| Dennd5a |
C |
A |
7: 109,500,374 (GRCm39) |
R917L |
probably benign |
Het |
| Egflam |
T |
A |
15: 7,279,525 (GRCm39) |
T494S |
probably benign |
Het |
| Fkbpl |
T |
A |
17: 34,864,691 (GRCm39) |
M153K |
probably benign |
Het |
| Helz2 |
A |
T |
2: 180,882,616 (GRCm39) |
I59N |
probably damaging |
Het |
| Ldlrap1 |
T |
C |
4: 134,477,303 (GRCm39) |
T194A |
probably benign |
Het |
| Lrrc27 |
T |
C |
7: 138,807,913 (GRCm39) |
M340T |
probably benign |
Het |
| Lum |
T |
A |
10: 97,404,157 (GRCm39) |
S17R |
probably benign |
Het |
| Malrd1 |
A |
G |
2: 15,847,405 (GRCm39) |
K1182E |
unknown |
Het |
| Map3k2 |
A |
T |
18: 32,333,069 (GRCm39) |
D81V |
possibly damaging |
Het |
| Muc5b |
A |
T |
7: 141,415,480 (GRCm39) |
T2809S |
possibly damaging |
Het |
| Nle1 |
C |
A |
11: 82,793,876 (GRCm39) |
V387L |
probably benign |
Het |
| Nr1h4 |
T |
C |
10: 89,290,618 (GRCm39) |
D474G |
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,163,468 (GRCm39) |
I144T |
possibly damaging |
Het |
| Or10ag57 |
G |
T |
2: 87,218,508 (GRCm39) |
C153F |
probably damaging |
Het |
| Or1e17 |
C |
A |
11: 73,831,986 (GRCm39) |
L305I |
probably benign |
Het |
| Or2a56 |
A |
T |
6: 42,933,091 (GRCm39) |
I220F |
probably damaging |
Het |
| Or4f15 |
G |
A |
2: 111,814,194 (GRCm39) |
S75L |
possibly damaging |
Het |
| Or4n4 |
G |
A |
14: 50,519,701 (GRCm39) |
T3I |
probably benign |
Het |
| Or51f1 |
T |
C |
7: 102,506,093 (GRCm39) |
Y132C |
probably benign |
Het |
| Pkn3 |
C |
T |
2: 29,973,290 (GRCm39) |
R371* |
probably null |
Het |
| Plin2 |
A |
T |
4: 86,586,742 (GRCm39) |
S30T |
possibly damaging |
Het |
| Ppfibp1 |
T |
C |
6: 146,917,769 (GRCm39) |
V475A |
probably benign |
Het |
| Ppp2ca |
T |
C |
11: 52,008,910 (GRCm39) |
Y137H |
probably damaging |
Het |
| Rasgrf2 |
T |
A |
13: 92,267,860 (GRCm39) |
Q48L |
probably damaging |
Het |
| Rnf168 |
G |
C |
16: 32,117,386 (GRCm39) |
V316L |
probably benign |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Spata31d1d |
T |
C |
13: 59,874,637 (GRCm39) |
H966R |
possibly damaging |
Het |
| Speg |
C |
A |
1: 75,399,358 (GRCm39) |
D2268E |
probably benign |
Het |
| Srp54c |
A |
G |
12: 55,296,811 (GRCm39) |
I170V |
probably benign |
Het |
| Syde2 |
A |
G |
3: 145,704,364 (GRCm39) |
R439G |
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,949,558 (GRCm39) |
K1155R |
unknown |
Het |
| Tmem184c |
T |
C |
8: 78,323,087 (GRCm39) |
I592V |
probably benign |
Het |
| Trav6-7-dv9 |
A |
G |
14: 53,947,669 (GRCm39) |
Y57C |
probably damaging |
Het |
| Trpc1 |
T |
A |
9: 95,625,303 (GRCm39) |
I108F |
probably damaging |
Het |
| Virma |
A |
T |
4: 11,546,007 (GRCm39) |
H1615L |
probably damaging |
Het |
| Vmn2r10 |
A |
T |
5: 109,150,404 (GRCm39) |
D213E |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,620,399 (GRCm39) |
V711E |
probably damaging |
Het |
| Vps16 |
T |
C |
2: 130,282,405 (GRCm39) |
F413L |
probably benign |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
| Wasf1 |
T |
C |
10: 40,812,693 (GRCm39) |
I494T |
unknown |
Het |
| Wdr36 |
A |
G |
18: 32,985,700 (GRCm39) |
D539G |
possibly damaging |
Het |
| Zfp81 |
A |
T |
17: 33,554,411 (GRCm39) |
C134* |
probably null |
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 |
|
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 |
|
|
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'- ATCTACCTGACCGCCTGTATG -3'
(R):5'- CCCAGATTTCCGAGTCGTTGTTG -3'
Sequencing Primer
(F):5'- ATGGAGAGTCTCTTCCGGGAC -3'
(R):5'- CAGGGTCTCCACGGTGAATTTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation