Incidental Mutation 'R2227:Abtb1'
| ID |
239783 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abtb1
|
| Ensembl Gene |
ENSMUSG00000030083 |
| Gene Name |
ankyrin repeat and BTB domain containing 1 |
| Synonyms |
EF1ABP, BPOZ |
| MMRRC Submission |
040228-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.376)
|
| Stock # |
R2227 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
88812896-88818966 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 88813349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 439
(L439R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032169
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032169]
[ENSMUST00000203137]
[ENSMUST00000203272]
[ENSMUST00000203864]
[ENSMUST00000205082]
[ENSMUST00000204932]
[ENSMUST00000204458]
[ENSMUST00000204327]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032169
AA Change: L439R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000032169
Gene: ENSMUSG00000030083
AA Change: L439R
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
1 |
31 |
5.03e2 |
SMART |
|
ANK
|
35 |
64 |
2.81e-4 |
SMART |
|
BTB
|
115 |
212 |
7.8e-18 |
SMART |
|
BTB
|
272 |
376 |
4.24e-19 |
SMART |
|
low complexity region
|
412 |
433 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203120
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203137
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203272
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203460
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203514
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203864
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205082
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204932
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204458
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204327
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204560
|
| Meta Mutation Damage Score |
0.7597 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563I02Rik |
T |
A |
14: 60,325,668 (GRCm39) |
|
probably benign |
Het |
| Adcy10 |
A |
G |
1: 165,345,829 (GRCm39) |
T293A |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,581,961 (GRCm39) |
V306D |
possibly damaging |
Het |
| Alpk2 |
T |
A |
18: 65,511,147 (GRCm39) |
T17S |
probably damaging |
Het |
| Ar |
T |
A |
X: 97,194,937 (GRCm39) |
M517K |
probably benign |
Het |
| Atg9b |
A |
G |
5: 24,591,393 (GRCm39) |
V735A |
possibly damaging |
Het |
| BB014433 |
C |
A |
8: 15,091,717 (GRCm39) |
A379S |
probably benign |
Het |
| Ccdc33 |
A |
G |
9: 57,989,305 (GRCm39) |
S123P |
probably damaging |
Het |
| Ccl2 |
G |
T |
11: 81,927,427 (GRCm39) |
|
probably null |
Het |
| Cct2 |
T |
C |
10: 116,888,922 (GRCm39) |
R526G |
probably null |
Het |
| Cep55 |
T |
C |
19: 38,051,082 (GRCm39) |
M164T |
probably benign |
Het |
| Clec2d |
G |
A |
6: 129,161,214 (GRCm39) |
A104T |
probably benign |
Het |
| Cyp3a11 |
A |
G |
5: 145,805,357 (GRCm39) |
L220P |
possibly damaging |
Het |
| Dgkk |
T |
A |
X: 6,741,487 (GRCm39) |
D102E |
probably damaging |
Het |
| Emcn |
T |
C |
3: 137,109,778 (GRCm39) |
I140T |
possibly damaging |
Het |
| Exoc2 |
T |
A |
13: 31,048,867 (GRCm39) |
I729L |
probably benign |
Het |
| Fbxl20 |
T |
C |
11: 97,981,675 (GRCm39) |
I338V |
probably benign |
Het |
| Gucy2c |
G |
A |
6: 136,679,758 (GRCm39) |
T943I |
probably damaging |
Het |
| Hdac9 |
C |
T |
12: 34,457,801 (GRCm39) |
V251I |
probably benign |
Het |
| Hoxa10 |
T |
C |
6: 52,209,616 (GRCm39) |
E52G |
probably damaging |
Het |
| Il17rb |
A |
T |
14: 29,728,038 (GRCm39) |
S56R |
probably benign |
Het |
| Knl1 |
A |
G |
2: 118,902,481 (GRCm39) |
D1394G |
probably damaging |
Het |
| Kpna1 |
G |
A |
16: 35,851,591 (GRCm39) |
A392T |
probably damaging |
Het |
| Krt6b |
A |
G |
15: 101,587,557 (GRCm39) |
V179A |
probably damaging |
Het |
| Lpar5 |
A |
T |
6: 125,058,098 (GRCm39) |
|
probably null |
Het |
| Marchf7 |
A |
G |
2: 60,060,190 (GRCm39) |
R106G |
probably benign |
Het |
| Mtus1 |
C |
T |
8: 41,535,812 (GRCm39) |
V635M |
probably damaging |
Het |
| Myl1 |
T |
C |
1: 66,983,974 (GRCm39) |
K31E |
possibly damaging |
Het |
| Myt1l |
T |
A |
12: 29,876,969 (GRCm39) |
L207I |
unknown |
Het |
| Naalad2 |
A |
T |
9: 18,287,829 (GRCm39) |
V267E |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,376,188 (GRCm39) |
I950T |
possibly damaging |
Het |
| Ppp1r9a |
G |
T |
6: 5,154,074 (GRCm39) |
R1081L |
probably benign |
Het |
| Rc3h1 |
T |
C |
1: 160,791,112 (GRCm39) |
I932T |
probably benign |
Het |
| Rubcnl |
G |
A |
14: 75,279,832 (GRCm39) |
R405Q |
probably benign |
Het |
| Saxo5 |
A |
G |
8: 3,529,249 (GRCm39) |
T245A |
probably benign |
Het |
| Sgsm3 |
A |
G |
15: 80,888,069 (GRCm39) |
E53G |
probably damaging |
Het |
| Slco1a8 |
T |
G |
6: 141,938,087 (GRCm39) |
E277D |
possibly damaging |
Het |
| Spin2g |
A |
T |
X: 33,656,599 (GRCm39) |
I171N |
possibly damaging |
Het |
| Srsf6 |
G |
A |
2: 162,773,619 (GRCm39) |
S10N |
probably damaging |
Het |
| Tesl2 |
T |
A |
X: 23,825,173 (GRCm39) |
M1L |
probably null |
Het |
| Thoc2l |
T |
A |
5: 104,667,286 (GRCm39) |
Y603N |
probably damaging |
Het |
| Tnn |
A |
T |
1: 159,975,035 (GRCm39) |
C131S |
probably damaging |
Het |
| Tnnt2 |
A |
G |
1: 135,771,529 (GRCm39) |
|
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Vmn1r86 |
T |
C |
7: 12,836,847 (GRCm39) |
I10V |
probably benign |
Het |
| Xpot |
T |
C |
10: 121,458,765 (GRCm39) |
R20G |
probably damaging |
Het |
| Zfp735 |
T |
A |
11: 73,602,222 (GRCm39) |
L389I |
possibly damaging |
Het |
| Zfp735 |
T |
G |
11: 73,602,223 (GRCm39) |
L389* |
probably null |
Het |
|
| Other mutations in Abtb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01487:Abtb1
|
APN |
6 |
88,816,431 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02264:Abtb1
|
APN |
6 |
88,813,517 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02376:Abtb1
|
APN |
6 |
88,815,466 (GRCm39) |
splice site |
probably benign |
|
|
IGL02702:Abtb1
|
APN |
6 |
88,815,120 (GRCm39) |
missense |
probably benign |
|
|
IGL03132:Abtb1
|
APN |
6 |
88,815,941 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03266:Abtb1
|
APN |
6 |
88,815,916 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4243001:Abtb1
|
UTSW |
6 |
88,815,708 (GRCm39) |
missense |
probably benign |
0.16 |
|
PIT4418001:Abtb1
|
UTSW |
6 |
88,816,630 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0331:Abtb1
|
UTSW |
6 |
88,817,684 (GRCm39) |
unclassified |
probably benign |
|
|
R0763:Abtb1
|
UTSW |
6 |
88,815,261 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1565:Abtb1
|
UTSW |
6 |
88,813,536 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1796:Abtb1
|
UTSW |
6 |
88,813,601 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1822:Abtb1
|
UTSW |
6 |
88,813,536 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1824:Abtb1
|
UTSW |
6 |
88,813,536 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2225:Abtb1
|
UTSW |
6 |
88,813,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2399:Abtb1
|
UTSW |
6 |
88,815,720 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4394:Abtb1
|
UTSW |
6 |
88,813,566 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4625:Abtb1
|
UTSW |
6 |
88,813,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5312:Abtb1
|
UTSW |
6 |
88,815,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5552:Abtb1
|
UTSW |
6 |
88,813,530 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6035:Abtb1
|
UTSW |
6 |
88,818,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Abtb1
|
UTSW |
6 |
88,818,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6092:Abtb1
|
UTSW |
6 |
88,815,433 (GRCm39) |
missense |
probably benign |
|
|
R6195:Abtb1
|
UTSW |
6 |
88,817,718 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7257:Abtb1
|
UTSW |
6 |
88,816,434 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9547:Abtb1
|
UTSW |
6 |
88,815,917 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAATGCCATCTTGCTGCGTG -3'
(R):5'- ATAGCCAAGATGTTCCGGC -3'
Sequencing Primer
(F):5'- CTGCGTGCACACACTGC -3'
(R):5'- ACCAGTGTACCGAGTATATGGCC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation