Incidental Mutation 'R7783:Abcb9'
| ID |
599370 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcb9
|
| Ensembl Gene |
ENSMUSG00000029408 |
| Gene Name |
ATP-binding cassette, sub-family B member 9 |
| Synonyms |
TAPL |
| MMRRC Submission |
045839-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7783 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
124199920-124234009 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 124216875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 447
(Y447*)
|
| 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: Y447*
|
| SMART Domains |
Protein: ENSMUSP00000031354
Gene: ENSMUSG00000029408
AA Change: Y447*
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
T |
C |
1: 156,386,641 (GRCm39) |
V8A |
probably benign |
Het |
| Adam33 |
C |
T |
2: 130,900,257 (GRCm39) |
R103K |
unknown |
Het |
| Adamts13 |
G |
T |
2: 26,880,597 (GRCm39) |
A727S |
not run |
Het |
| Ajm1 |
A |
T |
2: 25,467,820 (GRCm39) |
L697Q |
probably damaging |
Het |
| Alpk2 |
A |
T |
18: 65,439,325 (GRCm39) |
C689* |
probably null |
Het |
| Amt |
C |
T |
9: 108,174,414 (GRCm39) |
Q60* |
probably null |
Het |
| Ankrd12 |
A |
G |
17: 66,334,245 (GRCm39) |
|
probably null |
Het |
| Ankrd28 |
A |
T |
14: 31,428,770 (GRCm39) |
N920K |
probably damaging |
Het |
| Ankrd36 |
T |
C |
11: 5,585,359 (GRCm39) |
L390P |
probably damaging |
Het |
| Arvcf |
T |
G |
16: 18,207,063 (GRCm39) |
H7Q |
probably benign |
Het |
| Asns |
A |
G |
6: 7,677,978 (GRCm39) |
S367P |
probably damaging |
Het |
| BC005537 |
C |
T |
13: 24,987,382 (GRCm39) |
R7W |
possibly damaging |
Het |
| C7 |
T |
A |
15: 5,037,192 (GRCm39) |
H562L |
probably benign |
Het |
| Ccdc77 |
T |
C |
6: 120,327,334 (GRCm39) |
D37G |
probably damaging |
Het |
| Cdc14a |
C |
T |
3: 116,198,236 (GRCm39) |
A58T |
probably damaging |
Het |
| Cdc42bpb |
C |
T |
12: 111,302,459 (GRCm39) |
|
probably null |
Het |
| Cilk1 |
G |
T |
9: 78,042,927 (GRCm39) |
V51F |
probably damaging |
Het |
| Corin |
A |
T |
5: 72,458,967 (GRCm39) |
F1068L |
probably benign |
Het |
| Epb42 |
T |
G |
2: 120,864,916 (GRCm39) |
K58N |
probably benign |
Het |
| Ercc3 |
T |
A |
18: 32,381,296 (GRCm39) |
S371T |
probably damaging |
Het |
| Fam193a |
A |
C |
5: 34,588,524 (GRCm39) |
K358Q |
probably damaging |
Het |
| Fem1a |
G |
A |
17: 56,564,522 (GRCm39) |
C205Y |
probably benign |
Het |
| Fh1 |
G |
A |
1: 175,439,744 (GRCm39) |
T233M |
probably damaging |
Het |
| Ftsj3 |
CCTTCTTCTTCTTCTTCT |
CCTTCTTCTTCTTCT |
11: 106,143,377 (GRCm39) |
|
probably benign |
Het |
| Gabra6 |
T |
C |
11: 42,207,289 (GRCm39) |
N265S |
probably damaging |
Het |
| Gm10801 |
C |
CGTG |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Grm6 |
T |
A |
11: 50,753,909 (GRCm39) |
C738S |
probably damaging |
Het |
| Gtsf1 |
C |
T |
15: 103,336,996 (GRCm39) |
|
probably benign |
Het |
| Hcrtr2 |
T |
A |
9: 76,140,196 (GRCm39) |
Y364F |
probably damaging |
Het |
| Ifit1bl1 |
T |
C |
19: 34,571,336 (GRCm39) |
I374V |
probably benign |
Het |
| Il31ra |
A |
T |
13: 112,677,785 (GRCm39) |
F250L |
probably benign |
Het |
| Iqgap1 |
A |
G |
7: 80,458,807 (GRCm39) |
V37A |
probably benign |
Het |
| Izumo3 |
A |
T |
4: 92,033,260 (GRCm39) |
I182K |
probably damaging |
Het |
| Kidins220 |
G |
A |
12: 25,038,555 (GRCm39) |
A36T |
probably damaging |
Het |
| Lrrtm1 |
G |
T |
6: 77,221,236 (GRCm39) |
R231L |
probably damaging |
Het |
| Mical2 |
A |
T |
7: 112,012,183 (GRCm39) |
S678C |
probably damaging |
Het |
| Mme |
T |
G |
3: 63,272,288 (GRCm39) |
F629C |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,411,078 (GRCm39) |
H1341Q |
unknown |
Het |
| Or13a28 |
A |
G |
7: 140,217,637 (GRCm39) |
T8A |
possibly damaging |
Het |
| Or13p5 |
T |
A |
4: 118,592,099 (GRCm39) |
D124E |
probably damaging |
Het |
| Or2y1e |
A |
G |
11: 49,219,029 (GRCm39) |
S264G |
probably benign |
Het |
| Or5e1 |
A |
T |
7: 108,354,776 (GRCm39) |
T238S |
probably damaging |
Het |
| Or5p70 |
A |
G |
7: 107,995,296 (GRCm39) |
H323R |
probably benign |
Het |
| Parm1 |
A |
T |
5: 91,741,724 (GRCm39) |
M31L |
probably benign |
Het |
| Pcdhb18 |
G |
A |
18: 37,622,874 (GRCm39) |
C68Y |
probably benign |
Het |
| Pkn3 |
A |
T |
2: 29,969,634 (GRCm39) |
E35V |
probably damaging |
Het |
| Pla2g4a |
A |
T |
1: 149,748,495 (GRCm39) |
Y238N |
probably damaging |
Het |
| Pld6 |
T |
C |
11: 59,678,097 (GRCm39) |
D122G |
probably damaging |
Het |
| Prag1 |
G |
T |
8: 36,570,409 (GRCm39) |
A331S |
possibly damaging |
Het |
| Rbm44 |
A |
G |
1: 91,096,551 (GRCm39) |
D970G |
probably benign |
Het |
| Rps6kc1 |
A |
G |
1: 190,505,851 (GRCm39) |
V1037A |
probably benign |
Het |
| Slc12a7 |
T |
C |
13: 73,953,588 (GRCm39) |
V766A |
probably benign |
Het |
| Spata18 |
A |
G |
5: 73,825,953 (GRCm39) |
T87A |
|
Het |
| St3gal3 |
T |
C |
4: 117,797,320 (GRCm39) |
M308V |
probably benign |
Het |
| Stx19 |
T |
C |
16: 62,642,649 (GRCm39) |
L155S |
probably benign |
Het |
| Tespa1 |
A |
T |
10: 130,192,752 (GRCm39) |
T145S |
probably damaging |
Het |
| Timm21 |
A |
C |
18: 84,965,846 (GRCm39) |
F221V |
possibly damaging |
Het |
| Tlr1 |
A |
T |
5: 65,082,264 (GRCm39) |
F771Y |
probably damaging |
Het |
| Tmem150a |
C |
A |
6: 72,335,606 (GRCm39) |
L125I |
unknown |
Het |
| Try4 |
T |
C |
6: 41,279,229 (GRCm39) |
L4P |
possibly damaging |
Het |
| Txlna |
C |
T |
4: 129,525,950 (GRCm39) |
R299H |
probably damaging |
Het |
| Txndc16 |
A |
T |
14: 45,382,417 (GRCm39) |
N609K |
probably benign |
Het |
| Upf1 |
T |
C |
8: 70,805,508 (GRCm39) |
T46A |
probably benign |
Het |
| Zfp266 |
T |
C |
9: 20,411,626 (GRCm39) |
N184D |
probably benign |
Het |
| Zfp407 |
A |
G |
18: 84,228,047 (GRCm39) |
V1854A |
possibly damaging |
Het |
| Zfp626 |
T |
A |
7: 27,517,795 (GRCm39) |
C259S |
possibly 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 |
|
|
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'- CCAGTTCACCATTTGTGCCG -3'
(R):5'- TCTTGCTAACAGGGAACAGAG -3'
Sequencing Primer
(F):5'- CTCTGGCACTGTTATCCTAGAGG -3'
(R):5'- TTGCTAACAGGGAACAGAGTTGGG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation