Incidental Mutation 'IGL00499:Abcb9'
| ID |
5539 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Abcb9
|
| Ensembl Gene |
ENSMUSG00000029408 |
| Gene Name |
ATP-binding cassette, sub-family B (MDR/TAP), member 9 |
| Synonyms |
TAPL |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00499
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
124061530-124095798 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124077238 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 480
(D480G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031354]
[ENSMUST00000126856]
[ENSMUST00000141510]
|
| AlphaFold |
Q9JJ59 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031354
AA Change: D480G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000031354
Gene: ENSMUSG00000029408
AA Change: D480G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
transmembrane domain
|
82 |
104 |
N/A |
INTRINSIC |
|
transmembrane domain
|
116 |
138 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
184 |
453 |
1.9e-61 |
PFAM |
|
AAA
|
527 |
713 |
4.07e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126856
|
| SMART Domains |
Protein: ENSMUSP00000118908
Gene: ENSMUSG00000029408
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
27 |
N/A |
INTRINSIC |
|
transmembrane domain
|
47 |
69 |
N/A |
INTRINSIC |
|
transmembrane domain
|
82 |
104 |
N/A |
INTRINSIC |
|
transmembrane domain
|
114 |
136 |
N/A |
INTRINSIC |
|
transmembrane domain
|
181 |
203 |
N/A |
INTRINSIC |
|
transmembrane domain
|
218 |
237 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141510
|
| SMART Domains |
Protein: ENSMUSP00000122969
Gene: ENSMUSG00000029408
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
27 |
N/A |
INTRINSIC |
|
transmembrane domain
|
47 |
69 |
N/A |
INTRINSIC |
|
transmembrane domain
|
82 |
104 |
N/A |
INTRINSIC |
|
transmembrane domain
|
114 |
136 |
N/A |
INTRINSIC |
|
transmembrane domain
|
181 |
203 |
N/A |
INTRINSIC |
|
transmembrane domain
|
218 |
237 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148392
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153433
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196486
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. The function of this half-transporter has not yet been determined; however, it may be associated with lysosome activity. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
C |
A |
10: 70,875,308 (GRCm38) |
|
noncoding transcript |
Het |
| Adam26a |
A |
T |
8: 43,568,859 (GRCm38) |
N531K |
possibly damaging |
Het |
| AW554918 |
A |
T |
18: 25,420,065 (GRCm38) |
K542* |
probably null |
Het |
| Blk |
A |
G |
14: 63,380,720 (GRCm38) |
F246L |
probably damaging |
Het |
| Camk1 |
T |
C |
6: 113,336,211 (GRCm38) |
E292G |
probably benign |
Het |
| Ccdc88a |
C |
T |
11: 29,499,341 (GRCm38) |
T261I |
probably benign |
Het |
| Cep290 |
A |
T |
10: 100,543,327 (GRCm38) |
Q57L |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,600,216 (GRCm38) |
H688Q |
probably benign |
Het |
| Cryz |
T |
C |
3: 154,604,942 (GRCm38) |
V13A |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,290,423 (GRCm38) |
K6858R |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,168,700 (GRCm38) |
V371E |
possibly damaging |
Het |
| Eps8 |
C |
A |
6: 137,522,888 (GRCm38) |
E181* |
probably null |
Het |
| Flt4 |
T |
C |
11: 49,635,261 (GRCm38) |
I796T |
probably damaging |
Het |
| Gmps |
A |
G |
3: 64,014,367 (GRCm38) |
N597S |
probably benign |
Het |
| Itgav |
T |
A |
2: 83,802,995 (GRCm38) |
M1011K |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,857,324 (GRCm38) |
M112T |
probably damaging |
Het |
| Lig1 |
T |
C |
7: 13,298,830 (GRCm38) |
|
probably null |
Het |
| Lrrc30 |
A |
G |
17: 67,632,039 (GRCm38) |
F182S |
probably damaging |
Het |
| Oxsm |
A |
T |
14: 16,242,076 (GRCm38) |
M231K |
probably damaging |
Het |
| Pnisr |
T |
C |
4: 21,870,407 (GRCm38) |
|
probably null |
Het |
| Rsrc1 |
A |
T |
3: 67,082,600 (GRCm38) |
|
probably benign |
Het |
| Setd1b |
A |
T |
5: 123,158,747 (GRCm38) |
|
probably benign |
Het |
| Tbx6 |
A |
G |
7: 126,781,529 (GRCm38) |
Y8C |
probably damaging |
Het |
| Tmem33 |
T |
C |
5: 67,284,195 (GRCm38) |
Y196H |
probably damaging |
Het |
| Traf5 |
T |
C |
1: 192,057,174 (GRCm38) |
D96G |
possibly damaging |
Het |
| Tsc22d1 |
T |
A |
14: 76,418,917 (GRCm38) |
D945E |
probably damaging |
Het |
| Tubb2b |
T |
C |
13: 34,128,346 (GRCm38) |
I155V |
probably benign |
Het |
| Usp13 |
T |
A |
3: 32,881,411 (GRCm38) |
Y328N |
probably damaging |
Het |
| Usp17lc |
G |
A |
7: 103,418,466 (GRCm38) |
D323N |
probably damaging |
Het |
| Usp17lc |
G |
A |
7: 103,418,465 (GRCm38) |
M322I |
probably damaging |
Het |
| Zfp341 |
C |
T |
2: 154,634,231 (GRCm38) |
T446I |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,561,752 (GRCm38) |
L412P |
probably damaging |
Het |
| Zfp521 |
T |
A |
18: 13,939,120 (GRCm38) |
D21V |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,982,504 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Abcb9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0045:Abcb9
|
UTSW |
5 |
124,082,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0106:Abcb9
|
UTSW |
5 |
124,083,060 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R0153:Abcb9
|
UTSW |
5 |
124,080,056 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0194:Abcb9
|
UTSW |
5 |
124,077,295 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0458:Abcb9
|
UTSW |
5 |
124,082,146 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R0669:Abcb9
|
UTSW |
5 |
124,062,887 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1240:Abcb9
|
UTSW |
5 |
124,089,921 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1480:Abcb9
|
UTSW |
5 |
124,078,826 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1544:Abcb9
|
UTSW |
5 |
124,083,631 (GRCm38) |
missense |
probably benign |
|
|
R1878:Abcb9
|
UTSW |
5 |
124,090,136 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2355:Abcb9
|
UTSW |
5 |
124,077,305 (GRCm38) |
frame shift |
probably null |
|
|
R2358:Abcb9
|
UTSW |
5 |
124,077,305 (GRCm38) |
frame shift |
probably null |
|
|
R2520:Abcb9
|
UTSW |
5 |
124,080,028 (GRCm38) |
splice site |
probably null |
|
|
R2926:Abcb9
|
UTSW |
5 |
124,078,839 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R3795:Abcb9
|
UTSW |
5 |
124,090,149 (GRCm38) |
missense |
probably benign |
0.05 |
|
R3911:Abcb9
|
UTSW |
5 |
124,089,846 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4679:Abcb9
|
UTSW |
5 |
124,078,804 (GRCm38) |
missense |
probably benign |
0.20 |
|
R4789:Abcb9
|
UTSW |
5 |
124,078,790 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4821:Abcb9
|
UTSW |
5 |
124,090,149 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5116:Abcb9
|
UTSW |
5 |
124,078,867 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5804:Abcb9
|
UTSW |
5 |
124,080,055 (GRCm38) |
missense |
probably benign |
|
|
R5997:Abcb9
|
UTSW |
5 |
124,089,815 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R6197:Abcb9
|
UTSW |
5 |
124,071,749 (GRCm38) |
nonsense |
probably null |
|
|
R7172:Abcb9
|
UTSW |
5 |
124,062,806 (GRCm38) |
nonsense |
probably null |
|
|
R7705:Abcb9
|
UTSW |
5 |
124,081,955 (GRCm38) |
nonsense |
probably null |
|
|
R7783:Abcb9
|
UTSW |
5 |
124,078,812 (GRCm38) |
nonsense |
probably null |
|
|
R7953:Abcb9
|
UTSW |
5 |
124,073,602 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7994:Abcb9
|
UTSW |
5 |
124,082,027 (GRCm38) |
missense |
probably benign |
0.13 |
|
R8043:Abcb9
|
UTSW |
5 |
124,073,602 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8079:Abcb9
|
UTSW |
5 |
124,083,123 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8099:Abcb9
|
UTSW |
5 |
124,077,245 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8395:Abcb9
|
UTSW |
5 |
124,080,217 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R8790:Abcb9
|
UTSW |
5 |
124,077,241 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8927:Abcb9
|
UTSW |
5 |
124,083,643 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8928:Abcb9
|
UTSW |
5 |
124,083,643 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9102:Abcb9
|
UTSW |
5 |
124,090,113 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R9108:Abcb9
|
UTSW |
5 |
124,090,113 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R9135:Abcb9
|
UTSW |
5 |
124,090,113 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R9136:Abcb9
|
UTSW |
5 |
124,090,113 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R9138:Abcb9
|
UTSW |
5 |
124,090,113 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R9217:Abcb9
|
UTSW |
5 |
124,076,027 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9337:Abcb9
|
UTSW |
5 |
124,090,113 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R9338:Abcb9
|
UTSW |
5 |
124,090,113 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R9339:Abcb9
|
UTSW |
5 |
124,090,113 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R9412:Abcb9
|
UTSW |
5 |
124,083,690 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9461:Abcb9
|
UTSW |
5 |
124,090,113 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R9481:Abcb9
|
UTSW |
5 |
124,090,113 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R9512:Abcb9
|
UTSW |
5 |
124,090,113 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R9520:Abcb9
|
UTSW |
5 |
124,090,113 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
| Posted On |
2012-04-20 |
Incidental Mutation