Incidental Mutation 'R9138:Abcb9'
| ID |
694136 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcb9
|
| Ensembl Gene |
ENSMUSG00000029408 |
| Gene Name |
ATP-binding cassette, sub-family B member 9 |
| Synonyms |
TAPL |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9138 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
124199920-124234009 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124228176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 22
(T22A)
|
| 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: T22A
PolyPhen 2
Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000031354
Gene: ENSMUSG00000029408
AA Change: T22A
| 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 |
possibly damaging
Transcript: ENSMUST00000126856
AA Change: T22A
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118908
Gene: ENSMUSG00000029408
AA Change: T22A
| 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 |
possibly damaging
Transcript: ENSMUST00000141510
AA Change: T22A
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122969
Gene: ENSMUSG00000029408
AA Change: T22A
| 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 |
|
| Meta Mutation Damage Score |
0.1779 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre5 |
A |
T |
8: 84,452,563 (GRCm39) |
N502K |
probably benign |
Het |
| Ago4 |
T |
A |
4: 126,414,073 (GRCm39) |
K73* |
probably null |
Het |
| Angpt2 |
T |
C |
8: 18,764,162 (GRCm39) |
I127V |
probably benign |
Het |
| Ankhd1 |
TGGCGGCGGCGGCGGCGGCGGCGGC |
TGGCGGCGGCGGCGGCGGCGGC |
18: 36,693,961 (GRCm39) |
|
probably benign |
Het |
| Ap4b1 |
T |
A |
3: 103,722,626 (GRCm39) |
I368N |
probably damaging |
Het |
| Arhgap5 |
A |
G |
12: 52,609,146 (GRCm39) |
I1374V |
probably benign |
Het |
| B3galt9 |
T |
C |
2: 34,728,920 (GRCm39) |
Y240H |
probably damaging |
Het |
| Bltp3b |
T |
A |
10: 89,615,738 (GRCm39) |
V127D |
probably damaging |
Het |
| Caln1 |
T |
C |
5: 130,698,449 (GRCm39) |
L157P |
probably damaging |
Het |
| Cdh9 |
G |
T |
15: 16,823,273 (GRCm39) |
G85V |
probably damaging |
Het |
| Chrna4 |
A |
G |
2: 180,670,775 (GRCm39) |
V327A |
probably damaging |
Het |
| Col11a2 |
T |
C |
17: 34,279,847 (GRCm39) |
S1156P |
|
Het |
| Cps1 |
G |
A |
1: 67,254,569 (GRCm39) |
V1253M |
probably damaging |
Het |
| Crb1 |
T |
C |
1: 139,162,468 (GRCm39) |
E1291G |
|
Het |
| Dab1 |
A |
T |
4: 104,588,929 (GRCm39) |
K518* |
probably null |
Het |
| Ddias |
A |
T |
7: 92,507,608 (GRCm39) |
I769N |
possibly damaging |
Het |
| Dlg5 |
G |
T |
14: 24,295,376 (GRCm39) |
A48E |
probably damaging |
Het |
| Dok1 |
G |
T |
6: 83,009,806 (GRCm39) |
A101E |
probably damaging |
Het |
| Dpf2 |
T |
C |
19: 5,948,593 (GRCm39) |
N389S |
probably benign |
Het |
| Evi5l |
T |
A |
8: 4,233,582 (GRCm39) |
S22T |
probably benign |
Het |
| Garin5b |
A |
G |
7: 4,773,406 (GRCm39) |
F137S |
|
Het |
| Gm5431 |
T |
A |
11: 48,780,498 (GRCm39) |
R141S |
probably benign |
Het |
| Gmds |
A |
T |
13: 32,311,035 (GRCm39) |
Y197* |
probably null |
Het |
| Gprc5a |
T |
A |
6: 135,056,164 (GRCm39) |
S204T |
probably damaging |
Het |
| H2bc1 |
T |
C |
13: 24,118,112 (GRCm39) |
T10A |
probably benign |
Het |
| Hoxd12 |
T |
A |
2: 74,505,902 (GRCm39) |
S158T |
probably benign |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Idh2 |
TCCCAGGGCC |
TCC |
7: 79,748,079 (GRCm39) |
|
probably null |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Kif16b |
C |
A |
2: 142,542,476 (GRCm39) |
E273D |
|
Het |
| Lct |
T |
C |
1: 128,227,894 (GRCm39) |
I1200V |
probably benign |
Het |
| Lrrfip1 |
T |
A |
1: 91,038,080 (GRCm39) |
L398I |
probably damaging |
Het |
| Mcm4 |
T |
C |
16: 15,447,200 (GRCm39) |
E588G |
probably damaging |
Het |
| Mdga2 |
C |
T |
12: 66,615,663 (GRCm39) |
G648D |
possibly damaging |
Het |
| Mfrp |
A |
G |
9: 44,017,673 (GRCm39) |
Q555R |
possibly damaging |
Het |
| Mtf1 |
C |
T |
4: 124,732,510 (GRCm39) |
Q523* |
probably null |
Het |
| Naf1 |
A |
G |
8: 67,317,198 (GRCm39) |
D230G |
possibly damaging |
Het |
| Nbeal1 |
G |
T |
1: 60,286,904 (GRCm39) |
E909* |
probably null |
Het |
| Nxt1 |
C |
A |
2: 148,517,572 (GRCm39) |
N104K |
probably benign |
Het |
| Ocstamp |
T |
A |
2: 165,237,864 (GRCm39) |
T467S |
probably benign |
Het |
| Or1j19 |
A |
G |
2: 36,676,702 (GRCm39) |
H55R |
probably benign |
Het |
| Or4n4b |
T |
C |
14: 50,536,494 (GRCm39) |
I91V |
probably benign |
Het |
| Or5b123 |
T |
A |
19: 13,596,658 (GRCm39) |
M44K |
probably damaging |
Het |
| Pcdhgc5 |
A |
C |
18: 37,953,892 (GRCm39) |
T389P |
probably benign |
Het |
| Peak1 |
A |
T |
9: 56,164,925 (GRCm39) |
V1001E |
probably benign |
Het |
| Phf11d |
C |
A |
14: 59,602,833 (GRCm39) |
C9F |
probably benign |
Het |
| Pkd1l2 |
T |
A |
8: 117,781,748 (GRCm39) |
T766S |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Psg20 |
A |
T |
7: 18,418,595 (GRCm39) |
N57K |
|
Het |
| Ptpro |
T |
A |
6: 137,388,113 (GRCm39) |
|
probably null |
Het |
| Rasa1 |
T |
C |
13: 85,369,635 (GRCm39) |
I896V |
possibly damaging |
Het |
| Rasa4 |
T |
C |
5: 136,131,455 (GRCm39) |
L483P |
possibly damaging |
Het |
| Septin7 |
A |
G |
9: 25,212,761 (GRCm39) |
Y309C |
probably damaging |
Het |
| Sertad2 |
A |
T |
11: 20,598,425 (GRCm39) |
E207V |
probably benign |
Het |
| Slco3a1 |
A |
T |
7: 74,009,664 (GRCm39) |
I217N |
probably damaging |
Het |
| Son |
C |
T |
16: 91,452,006 (GRCm39) |
T251I |
possibly damaging |
Het |
| Spata31e2 |
C |
T |
1: 26,721,253 (GRCm39) |
C1309Y |
possibly damaging |
Het |
| Spen |
T |
C |
4: 141,196,797 (GRCm39) |
D3566G |
probably damaging |
Het |
| Stag1 |
T |
C |
9: 100,829,335 (GRCm39) |
V1089A |
probably benign |
Het |
| Taf2 |
GCTTCTTCTTCTTCTTCTT |
GCTTCTTCTTCTTCTT |
15: 54,879,857 (GRCm39) |
|
probably benign |
Het |
| Tax1bp1 |
A |
G |
6: 52,718,958 (GRCm39) |
E354G |
probably damaging |
Het |
| Timd6 |
A |
T |
11: 46,468,126 (GRCm39) |
T67S |
probably damaging |
Het |
| Tmem63c |
T |
C |
12: 87,128,601 (GRCm39) |
F542S |
probably damaging |
Het |
| Trav12-2 |
T |
C |
14: 53,854,178 (GRCm39) |
S51P |
probably benign |
Het |
| Upf2 |
T |
A |
2: 6,028,132 (GRCm39) |
D739E |
unknown |
Het |
| Vmn1r193 |
A |
T |
13: 22,403,844 (GRCm39) |
H49Q |
probably damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,201,904 (GRCm39) |
D200G |
probably damaging |
Het |
| Vmn2r114 |
C |
A |
17: 23,510,578 (GRCm39) |
C634F |
probably damaging |
Het |
| Zfp444 |
A |
G |
7: 6,192,690 (GRCm39) |
H236R |
probably damaging |
Het |
| Zfp712 |
A |
G |
13: 67,189,318 (GRCm39) |
L403P |
probably damaging |
Het |
| Zmpste24 |
T |
G |
4: 120,923,018 (GRCm39) |
Y399S |
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 |
|
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 |
|
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 |
|
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'- ATAGATGCCCACAAAGAGGC -3'
(R):5'- GTCATGCAGCCATAGGAGTC -3'
Sequencing Primer
(F):5'- TGATGACGAGCCACGAAGCC -3'
(R):5'- AGCCATAGGAGTCCCCTCG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation