Incidental Mutation 'R8891:Abtb3'
| ID |
677699 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abtb3
|
| Ensembl Gene |
ENSMUSG00000020042 |
| Gene Name |
ankyrin repeat and BTB domain containing 3 |
| Synonyms |
Btbd11, 6330404E16Rik |
| MMRRC Submission |
068753-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R8891 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
85222678-85496156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 85223958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 256
(G256R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020231]
[ENSMUST00000105307]
|
| AlphaFold |
Q6GQW0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000020231
AA Change: G256R
|
| SMART Domains |
Protein: ENSMUSP00000020231
Gene: ENSMUSG00000020042
AA Change: G256R
| 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: G256R
|
| SMART Domains |
Protein: ENSMUSP00000100944
Gene: ENSMUSG00000020042
AA Change: G256R
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
T |
3: 137,772,520 (GRCm39) |
K570* |
probably null |
Het |
| Abi1 |
T |
C |
2: 22,861,262 (GRCm39) |
I99V |
probably damaging |
Het |
| Adgrg7 |
T |
A |
16: 56,572,762 (GRCm39) |
E351D |
probably benign |
Het |
| Ankrd34c |
T |
G |
9: 89,612,143 (GRCm39) |
K66T |
probably damaging |
Het |
| Asap2 |
C |
T |
12: 21,162,144 (GRCm39) |
R34W |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,787,813 (GRCm39) |
T1469A |
probably benign |
Het |
| Ccdc168 |
T |
C |
1: 44,096,284 (GRCm39) |
I1605V |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,822,194 (GRCm39) |
R1708S |
probably benign |
Het |
| Chmp2a |
T |
A |
7: 12,767,840 (GRCm39) |
E28D |
probably benign |
Het |
| Cldn24 |
A |
T |
8: 48,275,281 (GRCm39) |
N35I |
probably benign |
Het |
| Coa6 |
G |
C |
8: 127,149,570 (GRCm39) |
|
probably null |
Het |
| Copa |
C |
T |
1: 171,946,818 (GRCm39) |
R1009C |
probably damaging |
Het |
| Crybb2 |
G |
A |
5: 113,209,913 (GRCm39) |
T150M |
possibly damaging |
Het |
| Ctnnd2 |
A |
T |
15: 30,620,076 (GRCm39) |
T143S |
probably benign |
Het |
| Eid3 |
A |
G |
10: 82,702,992 (GRCm39) |
N151S |
probably damaging |
Het |
| Fbxo17 |
G |
T |
7: 28,434,733 (GRCm39) |
V173L |
possibly damaging |
Het |
| Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,436,769 (GRCm39) |
|
probably benign |
Het |
| Galntl6 |
T |
C |
8: 58,415,433 (GRCm39) |
N240S |
probably damaging |
Het |
| Gck |
G |
T |
11: 5,851,733 (GRCm39) |
S445R |
probably damaging |
Het |
| Gm5114 |
C |
A |
7: 39,057,718 (GRCm39) |
V634F |
probably benign |
Het |
| Gnat2 |
G |
A |
3: 108,005,634 (GRCm39) |
D200N |
|
Het |
| H13 |
A |
G |
2: 152,546,049 (GRCm39) |
N390S |
probably benign |
Het |
| Helz |
T |
A |
11: 107,552,842 (GRCm39) |
M1206K |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kank1 |
G |
A |
19: 25,387,439 (GRCm39) |
G371R |
probably benign |
Het |
| Kif13b |
A |
G |
14: 64,982,326 (GRCm39) |
T513A |
probably damaging |
Het |
| L3mbtl4 |
T |
C |
17: 68,762,781 (GRCm39) |
S105P |
possibly damaging |
Het |
| Lpo |
T |
A |
11: 87,697,848 (GRCm39) |
E653V |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,887,435 (GRCm39) |
D3088G |
possibly damaging |
Het |
| Man2b1 |
C |
A |
8: 85,811,084 (GRCm39) |
H72N |
probably damaging |
Het |
| Mast3 |
A |
T |
8: 71,233,801 (GRCm39) |
H981Q |
probably damaging |
Het |
| Meioc |
T |
A |
11: 102,559,246 (GRCm39) |
I56N |
probably benign |
Het |
| Mul1 |
A |
C |
4: 138,162,164 (GRCm39) |
K32Q |
probably benign |
Het |
| Oas1c |
C |
T |
5: 120,946,126 (GRCm39) |
S124N |
probably benign |
Het |
| Omg |
T |
A |
11: 79,393,829 (GRCm39) |
K10* |
probably null |
Het |
| Or2a52 |
A |
G |
6: 43,144,750 (GRCm39) |
I253V |
probably benign |
Het |
| Or4k52 |
A |
T |
2: 111,611,186 (GRCm39) |
I174F |
probably damaging |
Het |
| Or6c88 |
A |
G |
10: 129,407,046 (GRCm39) |
H174R |
probably damaging |
Het |
| Pcdhb14 |
T |
A |
18: 37,582,692 (GRCm39) |
N599K |
probably damaging |
Het |
| Pcdhb18 |
C |
A |
18: 37,623,700 (GRCm39) |
N343K |
probably damaging |
Het |
| Phf7 |
C |
A |
14: 30,971,613 (GRCm39) |
|
probably benign |
Het |
| Pramel15 |
C |
T |
4: 144,099,397 (GRCm39) |
C456Y |
probably damaging |
Het |
| Qdpr |
T |
C |
5: 45,604,982 (GRCm39) |
N42S |
probably damaging |
Het |
| Rbm44 |
T |
A |
1: 91,090,136 (GRCm39) |
D716E |
probably benign |
Het |
| Rprd2 |
A |
C |
3: 95,671,367 (GRCm39) |
H1345Q |
possibly damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,814,768 (GRCm39) |
A668V |
probably damaging |
Het |
| Sag |
T |
A |
1: 87,759,683 (GRCm39) |
L307Q |
probably damaging |
Het |
| Sash1 |
G |
A |
10: 8,603,734 (GRCm39) |
P1106L |
probably damaging |
Het |
| Sec16b |
T |
A |
1: 157,382,409 (GRCm39) |
I615N |
probably damaging |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Slco1b2 |
T |
C |
6: 141,628,993 (GRCm39) |
V600A |
probably benign |
Het |
| Sucnr1 |
A |
G |
3: 59,994,263 (GRCm39) |
T264A |
probably benign |
Het |
| Tbx3 |
A |
G |
5: 119,809,983 (GRCm39) |
|
probably benign |
Het |
| Tigd5 |
T |
C |
15: 75,783,069 (GRCm39) |
V477A |
possibly damaging |
Het |
| Tle7 |
T |
A |
8: 110,836,763 (GRCm39) |
S216R |
possibly damaging |
Het |
| Ttc17 |
G |
A |
2: 94,192,764 (GRCm39) |
A89V |
probably damaging |
Het |
| Twsg1 |
A |
G |
17: 66,255,657 (GRCm39) |
I39T |
|
Het |
| Zfp184 |
T |
C |
13: 22,143,512 (GRCm39) |
F406S |
probably damaging |
Het |
| Zfp429 |
A |
T |
13: 67,538,830 (GRCm39) |
C205S |
probably damaging |
Het |
| Zfp59 |
T |
A |
7: 27,554,313 (GRCm39) |
D588E |
probably benign |
Het |
| Zfp64 |
A |
T |
2: 168,797,083 (GRCm39) |
M1K |
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 |
|
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'- ATAACATGAGCAGCGCTGG -3'
(R):5'- TCTCCACGGTGAATTTGGGC -3'
Sequencing Primer
(F):5'- TGTACCGCTGGATGGTGGACAGC -3'
(R):5'- GGGCGCAACAACTACTGC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation