Incidental Mutation 'R0458:Abcb9'
ID |
261898 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcb9
|
Ensembl Gene |
ENSMUSG00000029408 |
Gene Name |
ATP-binding cassette, sub-family B member 9 |
Synonyms |
TAPL |
MMRRC Submission |
038658-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0458 (G1)
|
Quality Score |
73 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
124199920-124234009 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
C to A
at 124220209 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031354
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031354]
[ENSMUST00000031354]
[ENSMUST00000031354]
[ENSMUST00000126856]
[ENSMUST00000141510]
[ENSMUST00000141510]
[ENSMUST00000141510]
|
AlphaFold |
Q9JJ59 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031354
|
SMART Domains |
Protein: ENSMUSP00000031354 Gene: ENSMUSG00000029408
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 null
Transcript: ENSMUST00000031354
|
SMART Domains |
Protein: ENSMUSP00000031354 Gene: ENSMUSG00000029408
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 null
Transcript: ENSMUST00000031354
|
SMART Domains |
Protein: ENSMUSP00000031354 Gene: ENSMUSG00000029408
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 |
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 |
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
|
Meta Mutation Damage Score |
0.9497 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
100% (79/79) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933407L21Rik |
A |
G |
1: 85,856,747 (GRCm39) |
E8G |
unknown |
Het |
9130008F23Rik |
T |
C |
17: 41,191,127 (GRCm39) |
T101A |
probably benign |
Het |
Abcb8 |
C |
T |
5: 24,611,231 (GRCm39) |
T455I |
probably benign |
Het |
Akp3 |
T |
G |
1: 87,054,259 (GRCm39) |
Y265* |
probably null |
Het |
Atp6v1b1 |
A |
T |
6: 83,729,390 (GRCm39) |
D109V |
probably damaging |
Het |
Aurka |
C |
A |
2: 172,212,366 (GRCm39) |
E4* |
probably null |
Het |
Cacna1g |
T |
A |
11: 94,300,266 (GRCm39) |
Q2168L |
probably damaging |
Het |
Cdc45 |
T |
A |
16: 18,600,722 (GRCm39) |
|
probably benign |
Het |
Cfap61 |
T |
C |
2: 145,850,837 (GRCm39) |
V325A |
probably benign |
Het |
Clasp2 |
T |
A |
9: 113,735,292 (GRCm39) |
|
probably null |
Het |
Crim1 |
T |
A |
17: 78,620,655 (GRCm39) |
I365N |
probably damaging |
Het |
Dcaf8 |
A |
G |
1: 172,001,610 (GRCm39) |
N269S |
probably benign |
Het |
Dnaaf5 |
T |
C |
5: 139,147,633 (GRCm39) |
V399A |
possibly damaging |
Het |
Ear2 |
A |
G |
14: 44,340,705 (GRCm39) |
Y121C |
probably damaging |
Het |
Eef2k |
T |
C |
7: 120,502,513 (GRCm39) |
Y692H |
probably damaging |
Het |
Elavl2 |
A |
T |
4: 91,197,104 (GRCm39) |
|
probably benign |
Het |
Epn2 |
C |
A |
11: 61,437,281 (GRCm39) |
R97L |
possibly damaging |
Het |
Fam243 |
T |
C |
16: 92,117,995 (GRCm39) |
I98V |
probably benign |
Het |
Fzd6 |
G |
A |
15: 38,894,676 (GRCm39) |
A281T |
probably damaging |
Het |
Garem2 |
T |
A |
5: 30,319,180 (GRCm39) |
I214N |
probably damaging |
Het |
Glg1 |
A |
G |
8: 111,887,238 (GRCm39) |
|
probably benign |
Het |
Golm1 |
T |
C |
13: 59,812,178 (GRCm39) |
E48G |
probably damaging |
Het |
Gpaa1 |
G |
T |
15: 76,216,233 (GRCm39) |
R12L |
probably benign |
Het |
Gstm1 |
T |
A |
3: 107,924,679 (GRCm39) |
T34S |
probably benign |
Het |
Gtf3c1 |
G |
A |
7: 125,243,306 (GRCm39) |
P1766L |
possibly damaging |
Het |
Herc1 |
A |
T |
9: 66,383,663 (GRCm39) |
Q3709L |
probably benign |
Het |
Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
Icam1 |
A |
G |
9: 20,939,157 (GRCm39) |
|
probably null |
Het |
Itga9 |
T |
C |
9: 118,510,096 (GRCm39) |
|
probably null |
Het |
Kif15 |
T |
C |
9: 122,838,424 (GRCm39) |
F1121L |
probably benign |
Het |
Klhl30 |
T |
A |
1: 91,288,718 (GRCm39) |
|
probably benign |
Het |
Ldlrad1 |
T |
C |
4: 107,073,387 (GRCm39) |
C141R |
probably damaging |
Het |
Lemd2 |
T |
C |
17: 27,409,627 (GRCm39) |
D508G |
probably damaging |
Het |
Lilra5 |
A |
C |
7: 4,241,218 (GRCm39) |
T52P |
probably benign |
Het |
Lrtm2 |
G |
A |
6: 119,294,229 (GRCm39) |
P301S |
probably damaging |
Het |
Mcoln2 |
A |
G |
3: 145,855,768 (GRCm39) |
|
probably benign |
Het |
Mkrn2os |
A |
G |
6: 115,563,631 (GRCm39) |
S135P |
probably damaging |
Het |
Mlxipl |
T |
C |
5: 135,162,224 (GRCm39) |
V607A |
probably benign |
Het |
Mmadhc |
T |
C |
2: 50,171,173 (GRCm39) |
Y213C |
probably benign |
Het |
Mpo |
C |
A |
11: 87,687,123 (GRCm39) |
A223E |
probably benign |
Het |
Mthfd2l |
C |
G |
5: 91,168,036 (GRCm39) |
I310M |
probably damaging |
Het |
Muc5b |
C |
A |
7: 141,418,709 (GRCm39) |
A3885D |
probably benign |
Het |
Mvp |
A |
G |
7: 126,597,663 (GRCm39) |
W152R |
probably damaging |
Het |
Nmur2 |
A |
T |
11: 55,931,394 (GRCm39) |
F106I |
possibly damaging |
Het |
Nr3c2 |
T |
A |
8: 77,636,167 (GRCm39) |
F423I |
probably damaging |
Het |
Or1l8 |
A |
G |
2: 36,817,349 (GRCm39) |
V259A |
probably damaging |
Het |
Or5m5 |
A |
G |
2: 85,814,600 (GRCm39) |
S139G |
probably benign |
Het |
Or8c16 |
G |
A |
9: 38,130,344 (GRCm39) |
C75Y |
probably damaging |
Het |
Or9q1 |
G |
T |
19: 13,805,593 (GRCm39) |
H56N |
probably benign |
Het |
Pappa |
A |
G |
4: 65,074,119 (GRCm39) |
I224M |
probably damaging |
Het |
Prex1 |
A |
C |
2: 166,427,743 (GRCm39) |
S800A |
probably damaging |
Het |
Prkaca |
T |
C |
8: 84,721,911 (GRCm39) |
|
probably benign |
Het |
Ptpru |
A |
T |
4: 131,526,986 (GRCm39) |
V662E |
possibly damaging |
Het |
Rabep1 |
T |
A |
11: 70,777,824 (GRCm39) |
|
probably null |
Het |
Rbms2 |
C |
T |
10: 127,987,058 (GRCm39) |
C50Y |
probably damaging |
Het |
Rd3 |
C |
T |
1: 191,709,414 (GRCm39) |
P25S |
probably damaging |
Het |
Rnf148 |
T |
G |
6: 23,654,256 (GRCm39) |
I247L |
probably benign |
Het |
Sf3b3 |
A |
G |
8: 111,538,768 (GRCm39) |
|
probably benign |
Het |
Slc35c1 |
A |
T |
2: 92,284,858 (GRCm39) |
F252Y |
probably damaging |
Het |
Slc38a11 |
T |
C |
2: 65,193,813 (GRCm39) |
|
probably null |
Het |
Snx6 |
G |
T |
12: 54,814,921 (GRCm39) |
Y17* |
probably null |
Het |
Sox6 |
C |
A |
7: 115,089,029 (GRCm39) |
R611L |
probably damaging |
Het |
Spata13 |
G |
A |
14: 60,929,492 (GRCm39) |
R350H |
probably damaging |
Het |
Sppl2a |
G |
T |
2: 126,746,879 (GRCm39) |
A483D |
probably damaging |
Het |
Stat1 |
C |
T |
1: 52,188,211 (GRCm39) |
|
probably benign |
Het |
Tab2 |
A |
T |
10: 7,795,319 (GRCm39) |
Y314N |
probably damaging |
Het |
Tor1aip1 |
T |
C |
1: 155,906,153 (GRCm39) |
N213S |
probably damaging |
Het |
Trim39 |
T |
C |
17: 36,572,404 (GRCm39) |
K300E |
probably damaging |
Het |
Tubal3 |
T |
C |
13: 3,983,137 (GRCm39) |
S306P |
probably damaging |
Het |
Ufm1 |
A |
G |
3: 53,768,655 (GRCm39) |
L33P |
probably damaging |
Het |
Washc4 |
G |
A |
10: 83,382,663 (GRCm39) |
V26I |
possibly damaging |
Het |
Wfs1 |
A |
G |
5: 37,126,013 (GRCm39) |
Y293H |
probably damaging |
Het |
Zbtb41 |
T |
C |
1: 139,351,214 (GRCm39) |
V109A |
probably damaging |
Het |
Zfp667 |
T |
C |
7: 6,307,844 (GRCm39) |
S171P |
probably benign |
Het |
Zkscan5 |
T |
A |
5: 145,142,281 (GRCm39) |
H59Q |
probably damaging |
Het |
Zswim8 |
C |
T |
14: 20,768,965 (GRCm39) |
R1128W |
probably damaging |
Het |
|
Other mutations in Abcb9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00499:Abcb9
|
APN |
5 |
124,215,301 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0045:Abcb9
|
UTSW |
5 |
124,220,148 (GRCm39) |
missense |
probably damaging |
0.96 |
R0106:Abcb9
|
UTSW |
5 |
124,221,123 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0153:Abcb9
|
UTSW |
5 |
124,218,119 (GRCm39) |
missense |
probably benign |
0.00 |
R0194:Abcb9
|
UTSW |
5 |
124,215,358 (GRCm39) |
missense |
probably damaging |
0.99 |
R0669:Abcb9
|
UTSW |
5 |
124,200,950 (GRCm39) |
missense |
probably damaging |
0.97 |
R1240:Abcb9
|
UTSW |
5 |
124,227,984 (GRCm39) |
missense |
probably benign |
0.02 |
R1480:Abcb9
|
UTSW |
5 |
124,216,889 (GRCm39) |
missense |
probably benign |
0.00 |
R1544:Abcb9
|
UTSW |
5 |
124,221,694 (GRCm39) |
missense |
probably benign |
|
R1878:Abcb9
|
UTSW |
5 |
124,228,199 (GRCm39) |
missense |
probably benign |
0.02 |
R2355:Abcb9
|
UTSW |
5 |
124,215,368 (GRCm39) |
frame shift |
probably null |
|
R2358:Abcb9
|
UTSW |
5 |
124,215,368 (GRCm39) |
frame shift |
probably null |
|
R2520:Abcb9
|
UTSW |
5 |
124,218,091 (GRCm39) |
splice site |
probably null |
|
R2926:Abcb9
|
UTSW |
5 |
124,216,902 (GRCm39) |
missense |
possibly damaging |
0.84 |
R3795:Abcb9
|
UTSW |
5 |
124,228,212 (GRCm39) |
missense |
probably benign |
0.05 |
R3911:Abcb9
|
UTSW |
5 |
124,227,909 (GRCm39) |
missense |
probably benign |
0.06 |
R4679:Abcb9
|
UTSW |
5 |
124,216,867 (GRCm39) |
missense |
probably benign |
0.20 |
R4789:Abcb9
|
UTSW |
5 |
124,216,853 (GRCm39) |
missense |
probably benign |
0.00 |
R4821:Abcb9
|
UTSW |
5 |
124,228,212 (GRCm39) |
missense |
probably benign |
0.05 |
R5116:Abcb9
|
UTSW |
5 |
124,216,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R5804:Abcb9
|
UTSW |
5 |
124,218,118 (GRCm39) |
missense |
probably benign |
|
R5997:Abcb9
|
UTSW |
5 |
124,227,878 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6197:Abcb9
|
UTSW |
5 |
124,209,812 (GRCm39) |
nonsense |
probably null |
|
R7172:Abcb9
|
UTSW |
5 |
124,200,869 (GRCm39) |
nonsense |
probably null |
|
R7705:Abcb9
|
UTSW |
5 |
124,220,018 (GRCm39) |
nonsense |
probably null |
|
R7783:Abcb9
|
UTSW |
5 |
124,216,875 (GRCm39) |
nonsense |
probably null |
|
R7953:Abcb9
|
UTSW |
5 |
124,211,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R7994:Abcb9
|
UTSW |
5 |
124,220,090 (GRCm39) |
missense |
probably benign |
0.13 |
R8043:Abcb9
|
UTSW |
5 |
124,211,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R8079:Abcb9
|
UTSW |
5 |
124,221,186 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8099:Abcb9
|
UTSW |
5 |
124,215,308 (GRCm39) |
missense |
probably benign |
0.02 |
R8395:Abcb9
|
UTSW |
5 |
124,218,280 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8790:Abcb9
|
UTSW |
5 |
124,215,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R8927:Abcb9
|
UTSW |
5 |
124,221,706 (GRCm39) |
missense |
probably benign |
0.00 |
R8928:Abcb9
|
UTSW |
5 |
124,221,706 (GRCm39) |
missense |
probably benign |
0.00 |
R9102:Abcb9
|
UTSW |
5 |
124,228,176 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9108:Abcb9
|
UTSW |
5 |
124,228,176 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9135:Abcb9
|
UTSW |
5 |
124,228,176 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9136:Abcb9
|
UTSW |
5 |
124,228,176 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9138:Abcb9
|
UTSW |
5 |
124,228,176 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9217:Abcb9
|
UTSW |
5 |
124,214,090 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9337:Abcb9
|
UTSW |
5 |
124,228,176 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9338:Abcb9
|
UTSW |
5 |
124,228,176 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9339:Abcb9
|
UTSW |
5 |
124,228,176 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9412:Abcb9
|
UTSW |
5 |
124,221,753 (GRCm39) |
missense |
probably benign |
0.03 |
R9461:Abcb9
|
UTSW |
5 |
124,228,176 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9481:Abcb9
|
UTSW |
5 |
124,228,176 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9512:Abcb9
|
UTSW |
5 |
124,228,176 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9520:Abcb9
|
UTSW |
5 |
124,228,176 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGAACAGCCTTGTGTAGCCTCC -3'
(R):5'- CAGAAGTGCTCCCCATTATTCCCAG -3'
Sequencing Primer
(F):5'- TGCCGTAGATGTTGGACACC -3'
(R):5'- TCCCCATTATTCCCAGATAGCAG -3'
|
Posted On |
2015-02-04 |