Incidental Mutation 'R2225:Abtb1'
| ID |
239662 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abtb1
|
| Ensembl Gene |
ENSMUSG00000030083 |
| Gene Name |
ankyrin repeat and BTB domain containing 1 |
| Synonyms |
EF1ABP, BPOZ |
| MMRRC Submission |
040226-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.326)
|
| Stock # |
R2225 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (56/56) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
A |
G |
1: 165,345,829 (GRCm39) |
T293A |
probably damaging |
Het |
| Aen |
C |
A |
7: 78,552,199 (GRCm39) |
T15K |
probably benign |
Het |
| Aggf1 |
A |
G |
13: 95,507,354 (GRCm39) |
S144P |
probably damaging |
Het |
| Akap9 |
A |
T |
5: 4,127,271 (GRCm39) |
R3706S |
probably damaging |
Het |
| Btd |
A |
G |
14: 31,389,017 (GRCm39) |
D246G |
probably benign |
Het |
| Ccdc33 |
A |
G |
9: 57,989,305 (GRCm39) |
S123P |
probably damaging |
Het |
| Cep152 |
T |
C |
2: 125,423,704 (GRCm39) |
E899G |
probably damaging |
Het |
| Cpsf6 |
A |
T |
10: 117,198,941 (GRCm39) |
|
probably benign |
Het |
| Crybg3 |
A |
G |
16: 59,375,041 (GRCm39) |
I2071T |
probably damaging |
Het |
| Cwc22 |
T |
A |
2: 77,738,495 (GRCm39) |
|
probably benign |
Het |
| Ddah2 |
T |
A |
17: 35,279,187 (GRCm39) |
I16N |
probably damaging |
Het |
| Dld |
T |
G |
12: 31,391,448 (GRCm39) |
M123L |
probably benign |
Het |
| Eif5b |
A |
T |
1: 38,058,304 (GRCm39) |
K202I |
unknown |
Het |
| Gm6430 |
T |
C |
1: 96,953,441 (GRCm39) |
|
noncoding transcript |
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 |
| Hspa4 |
C |
T |
11: 53,177,760 (GRCm39) |
V117M |
probably benign |
Het |
| Htra4 |
T |
C |
8: 25,515,736 (GRCm39) |
D434G |
probably benign |
Het |
| Itgb3 |
A |
G |
11: 104,556,336 (GRCm39) |
M726V |
probably benign |
Het |
| Itih1 |
A |
G |
14: 30,651,534 (GRCm39) |
V886A |
possibly damaging |
Het |
| Kdm1b |
TCATTGTCC |
TCATTGTCCATTGTCC |
13: 47,217,564 (GRCm39) |
|
probably null |
Het |
| Kpna1 |
G |
A |
16: 35,851,591 (GRCm39) |
A392T |
probably damaging |
Het |
| Limk1 |
G |
T |
5: 134,690,410 (GRCm39) |
|
probably null |
Het |
| Lonrf1 |
T |
C |
8: 36,703,252 (GRCm39) |
D308G |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,576,265 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,587,316 (GRCm39) |
C2719Y |
possibly damaging |
Het |
| Mvb12b |
G |
A |
2: 33,730,211 (GRCm39) |
T60I |
possibly damaging |
Het |
| Myh2 |
C |
T |
11: 67,084,555 (GRCm39) |
T1698M |
probably benign |
Het |
| Naalad2 |
A |
T |
9: 18,287,829 (GRCm39) |
V267E |
possibly damaging |
Het |
| Nkpd1 |
A |
T |
7: 19,253,745 (GRCm39) |
Y37F |
probably benign |
Het |
| Or10d5 |
T |
C |
9: 39,861,833 (GRCm39) |
K78R |
possibly damaging |
Het |
| Or2l5 |
T |
C |
16: 19,333,996 (GRCm39) |
H130R |
probably benign |
Het |
| Or8g33 |
T |
C |
9: 39,337,915 (GRCm39) |
I151V |
probably benign |
Het |
| Plekhg2 |
G |
A |
7: 28,059,760 (GRCm39) |
P1190S |
probably benign |
Het |
| Reck |
A |
G |
4: 43,922,837 (GRCm39) |
T371A |
probably benign |
Het |
| Rnf185 |
T |
C |
11: 3,382,445 (GRCm39) |
D44G |
probably damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,948,095 (GRCm39) |
E1196G |
probably benign |
Het |
| Rundc1 |
A |
G |
11: 101,322,170 (GRCm39) |
|
probably benign |
Het |
| Sf3b3 |
T |
C |
8: 111,541,205 (GRCm39) |
Y970C |
probably damaging |
Het |
| Sfxn1 |
A |
G |
13: 54,239,536 (GRCm39) |
T20A |
possibly damaging |
Het |
| Shprh |
T |
C |
10: 11,037,979 (GRCm39) |
|
probably benign |
Het |
| Spata31d1a |
T |
A |
13: 59,851,529 (GRCm39) |
I200L |
probably benign |
Het |
| Srsf6 |
G |
A |
2: 162,773,619 (GRCm39) |
S10N |
probably damaging |
Het |
| Tbxa2r |
A |
G |
10: 81,168,983 (GRCm39) |
Y224C |
probably benign |
Het |
| Tlr5 |
A |
G |
1: 182,799,941 (GRCm39) |
|
probably benign |
Het |
| Tmem270 |
A |
G |
5: 134,935,492 (GRCm39) |
L21P |
probably damaging |
Het |
| Tmtc2 |
T |
C |
10: 105,206,218 (GRCm39) |
E359G |
probably benign |
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 |
| Tph1 |
A |
G |
7: 46,314,598 (GRCm39) |
|
probably null |
Het |
| Wiz |
C |
T |
17: 32,575,899 (GRCm39) |
V836M |
probably damaging |
Het |
| Zfp451 |
T |
A |
1: 33,809,988 (GRCm39) |
|
probably benign |
Het |
| Zfp738 |
A |
G |
13: 67,818,431 (GRCm39) |
F520S |
probably damaging |
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 |
|
R2227: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'- AATGCCATCTTGCTGCGTG -3'
(R):5'- CATAGCCAAGATGTTCCGGCTG -3'
Sequencing Primer
(F):5'- CTGCGTGCACACACTGC -3'
(R):5'- ACCAGTGTACCGAGTATATGGCC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation