Incidental Mutation 'R6197:Abcb9'
ID |
502976 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcb9
|
Ensembl Gene |
ENSMUSG00000029408 |
Gene Name |
ATP-binding cassette, sub-family B member 9 |
Synonyms |
TAPL |
MMRRC Submission |
044337-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6197 (G1)
|
Quality Score |
149.008 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
124199920-124234009 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 124209812 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 664
(E664*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031354
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031354]
[ENSMUST00000126856]
[ENSMUST00000141510]
|
AlphaFold |
Q9JJ59 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031354
AA Change: E664*
|
SMART Domains |
Protein: ENSMUSP00000031354 Gene: ENSMUSG00000029408 AA Change: E664*
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
92% (49/53) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700109H08Rik |
T |
A |
5: 3,630,442 (GRCm39) |
Y119* |
probably null |
Het |
Adgrl2 |
T |
C |
3: 148,564,578 (GRCm39) |
D334G |
probably damaging |
Het |
Ak9 |
T |
G |
10: 41,193,826 (GRCm39) |
C57G |
probably damaging |
Het |
Als2cl |
A |
G |
9: 110,724,952 (GRCm39) |
K809E |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atp11a |
A |
G |
8: 12,896,099 (GRCm39) |
I223V |
probably benign |
Het |
Cacna2d3 |
A |
T |
14: 28,630,278 (GRCm39) |
V1022E |
probably benign |
Het |
Cc2d1b |
C |
T |
4: 108,490,422 (GRCm39) |
R825W |
probably damaging |
Het |
Cd37 |
A |
G |
7: 44,886,598 (GRCm39) |
C85R |
probably damaging |
Het |
Ces1g |
T |
C |
8: 94,063,764 (GRCm39) |
S7G |
probably benign |
Het |
Cltc |
T |
C |
11: 86,611,188 (GRCm39) |
N561S |
probably benign |
Het |
Cnbd2 |
A |
G |
2: 156,217,494 (GRCm39) |
E661G |
possibly damaging |
Het |
Col6a3 |
A |
T |
1: 90,750,063 (GRCm39) |
F257Y |
probably damaging |
Het |
Cpt1b |
T |
C |
15: 89,309,037 (GRCm39) |
Y55C |
possibly damaging |
Het |
Csmd1 |
A |
G |
8: 15,976,611 (GRCm39) |
V2869A |
probably benign |
Het |
Dnah11 |
T |
C |
12: 118,143,482 (GRCm39) |
E387G |
probably benign |
Het |
Eny2 |
T |
A |
15: 44,292,949 (GRCm39) |
|
probably null |
Het |
Fbxo10 |
G |
T |
4: 45,043,857 (GRCm39) |
H655Q |
probably benign |
Het |
Gm14403 |
AAACCCTA |
AA |
2: 177,201,448 (GRCm39) |
|
probably benign |
Het |
Gpx2 |
C |
T |
12: 76,842,068 (GRCm39) |
G28S |
probably damaging |
Het |
H2-Q5 |
G |
T |
17: 35,613,918 (GRCm39) |
A156S |
probably benign |
Het |
Hoxd4 |
A |
G |
2: 74,558,807 (GRCm39) |
D210G |
possibly damaging |
Het |
Hoxd9 |
A |
G |
2: 74,529,166 (GRCm39) |
Q256R |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,346,085 (GRCm39) |
V2571A |
probably damaging |
Het |
Mtus1 |
A |
G |
8: 41,537,074 (GRCm39) |
V214A |
possibly damaging |
Het |
Myh1 |
C |
T |
11: 67,111,793 (GRCm39) |
A1716V |
probably benign |
Het |
Nbeal1 |
A |
G |
1: 60,261,287 (GRCm39) |
D249G |
probably damaging |
Het |
Nup54 |
TCTGCTGCTGCTGCTGCTGCTGCTG |
TCTGCTGCTGCTGCTGCTGCTG |
5: 92,578,663 (GRCm39) |
|
probably benign |
Het |
Or10v9 |
G |
T |
19: 11,833,148 (GRCm39) |
H56Q |
probably damaging |
Het |
Or4c124 |
A |
T |
2: 89,155,677 (GRCm39) |
N282K |
probably damaging |
Het |
Or5w17 |
C |
T |
2: 87,583,696 (GRCm39) |
V214I |
probably benign |
Het |
Or7a37 |
T |
G |
10: 78,805,974 (GRCm39) |
L164V |
probably damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Pramel23 |
T |
C |
4: 143,423,886 (GRCm39) |
Y301C |
possibly damaging |
Het |
Prss59 |
A |
G |
6: 40,897,939 (GRCm39) |
I248T |
probably benign |
Het |
Pwwp2a |
A |
G |
11: 43,595,423 (GRCm39) |
D196G |
probably benign |
Het |
Rarg |
A |
T |
15: 102,150,327 (GRCm39) |
C93S |
possibly damaging |
Het |
Rcc1 |
T |
C |
4: 132,065,073 (GRCm39) |
D150G |
possibly damaging |
Het |
Ripk2 |
A |
G |
4: 16,163,330 (GRCm39) |
Y23H |
probably damaging |
Het |
Rragc |
A |
G |
4: 123,811,340 (GRCm39) |
Y5C |
possibly damaging |
Het |
Rubcnl |
G |
A |
14: 75,269,369 (GRCm39) |
G9D |
probably damaging |
Het |
Sephs2 |
A |
T |
7: 126,872,073 (GRCm39) |
V340E |
probably damaging |
Het |
Slc22a3 |
C |
T |
17: 12,677,438 (GRCm39) |
M243I |
probably benign |
Het |
Slco6c1 |
A |
G |
1: 97,000,518 (GRCm39) |
|
probably null |
Het |
Sncaip |
T |
G |
18: 53,039,966 (GRCm39) |
I308R |
probably damaging |
Het |
Supt16 |
G |
A |
14: 52,408,338 (GRCm39) |
T869M |
probably damaging |
Het |
Tanc1 |
G |
A |
2: 59,674,366 (GRCm39) |
E1817K |
possibly damaging |
Het |
Usp4 |
C |
A |
9: 108,248,154 (GRCm39) |
Q395K |
probably damaging |
Het |
Usp49 |
T |
A |
17: 47,984,272 (GRCm39) |
S210T |
possibly damaging |
Het |
Virma |
A |
G |
4: 11,505,498 (GRCm39) |
I124M |
probably damaging |
Het |
Vmn1r234 |
G |
A |
17: 21,449,589 (GRCm39) |
V168I |
probably benign |
Het |
Vnn3 |
T |
A |
10: 23,732,187 (GRCm39) |
C146S |
probably damaging |
Het |
Ylpm1 |
A |
G |
12: 85,088,953 (GRCm39) |
D1234G |
probably damaging |
Het |
Zfp617 |
T |
A |
8: 72,687,098 (GRCm39) |
V476E |
probably benign |
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 |
R0458:Abcb9
|
UTSW |
5 |
124,220,209 (GRCm39) |
critical splice acceptor site |
probably null |
|
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 |
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'- GGTGTCCTTGCCTAGAACTC -3'
(R):5'- GCTGGAGACCCTCAGAAATG -3'
Sequencing Primer
(F):5'- TTCCATGGCCTGAGAGAACCTG -3'
(R):5'- CAGAAATGTCTGCCGAGCTG -3'
|
Posted On |
2018-02-27 |