Incidental Mutation 'R7994:Abcb9'
| ID |
651925 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcb9
|
| Ensembl Gene |
ENSMUSG00000029408 |
| Gene Name |
ATP-binding cassette, sub-family B member 9 |
| Synonyms |
TAPL |
| MMRRC Submission |
046035-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7994 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124199920-124234009 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 124220090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 318
(F318L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031354]
[ENSMUST00000126856]
[ENSMUST00000141510]
|
| AlphaFold |
Q9JJ59 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031354
AA Change: F318L
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000031354
Gene: ENSMUSG00000029408
AA Change: F318L
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (56/56) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad1 |
T |
C |
3: 37,146,120 (GRCm39) |
I496T |
possibly damaging |
Het |
| Amotl1 |
T |
A |
9: 14,504,657 (GRCm39) |
N184Y |
probably damaging |
Het |
| Asz1 |
T |
C |
6: 18,054,640 (GRCm39) |
I388V |
probably benign |
Het |
| Brpf1 |
C |
G |
6: 113,292,002 (GRCm39) |
H349Q |
probably damaging |
Het |
| Cebpz |
T |
C |
17: 79,242,028 (GRCm39) |
D542G |
probably damaging |
Het |
| Cfap44 |
T |
C |
16: 44,252,501 (GRCm39) |
V870A |
probably damaging |
Het |
| Cnga1 |
T |
A |
5: 72,762,003 (GRCm39) |
I504F |
probably damaging |
Het |
| Col4a3 |
G |
A |
1: 82,640,627 (GRCm39) |
G315D |
unknown |
Het |
| Commd10 |
A |
G |
18: 47,091,986 (GRCm39) |
E11G |
possibly damaging |
Het |
| Coq9 |
A |
C |
8: 95,579,785 (GRCm39) |
N247H |
probably benign |
Het |
| Cort |
A |
T |
4: 149,209,762 (GRCm39) |
C97S |
probably damaging |
Het |
| Dclre1b |
T |
C |
3: 103,710,702 (GRCm39) |
D403G |
probably damaging |
Het |
| Efcab8 |
G |
A |
2: 153,625,724 (GRCm39) |
G128E |
|
Het |
| Ercc5 |
T |
C |
1: 44,217,494 (GRCm39) |
S946P |
possibly damaging |
Het |
| Fam221b |
C |
T |
4: 43,665,514 (GRCm39) |
V315M |
probably damaging |
Het |
| Fam3c |
T |
C |
6: 22,308,459 (GRCm39) |
K245E |
probably damaging |
Het |
| Gabbr2 |
C |
T |
4: 46,736,349 (GRCm39) |
|
probably null |
Het |
| Gadd45g |
T |
C |
13: 52,001,803 (GRCm39) |
S123P |
possibly damaging |
Het |
| Gm49368 |
A |
G |
7: 127,684,818 (GRCm39) |
D396G |
possibly damaging |
Het |
| Gsto1 |
G |
A |
19: 47,847,899 (GRCm39) |
R132K |
probably benign |
Het |
| Gtf3c2 |
T |
C |
5: 31,327,217 (GRCm39) |
I327V |
possibly damaging |
Het |
| Hipk2 |
T |
C |
6: 38,795,403 (GRCm39) |
K289E |
possibly damaging |
Het |
| Igkv4-80 |
G |
T |
6: 68,993,621 (GRCm39) |
T90N |
probably benign |
Het |
| Ilrun |
C |
A |
17: 27,986,917 (GRCm39) |
A270S |
probably benign |
Het |
| Madcam1 |
A |
T |
10: 79,504,069 (GRCm39) |
|
probably null |
Het |
| Mgat1 |
T |
C |
11: 49,152,770 (GRCm39) |
Y418H |
probably damaging |
Het |
| Myh10 |
T |
C |
11: 68,681,070 (GRCm39) |
|
probably null |
Het |
| Notch4 |
C |
A |
17: 34,797,064 (GRCm39) |
H937Q |
possibly damaging |
Het |
| Npas2 |
G |
T |
1: 39,367,418 (GRCm39) |
C313F |
possibly damaging |
Het |
| Nup93 |
A |
G |
8: 95,032,930 (GRCm39) |
M565V |
probably benign |
Het |
| Or10al3 |
C |
T |
17: 38,012,326 (GRCm39) |
T255I |
probably damaging |
Het |
| Or1x6 |
T |
G |
11: 50,938,967 (GRCm39) |
V11G |
probably benign |
Het |
| Or52a5 |
T |
A |
7: 103,426,607 (GRCm39) |
H315L |
probably benign |
Het |
| Or56b2j |
T |
A |
7: 104,353,635 (GRCm39) |
V287D |
probably damaging |
Het |
| Or6k4 |
G |
T |
1: 173,964,273 (GRCm39) |
|
probably benign |
Het |
| Otop1 |
C |
T |
5: 38,457,195 (GRCm39) |
T318I |
probably benign |
Het |
| Pcdhgb6 |
A |
G |
18: 37,875,724 (GRCm39) |
E144G |
probably damaging |
Het |
| Plekha8 |
T |
C |
6: 54,592,230 (GRCm39) |
L18P |
probably damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,798,776 (GRCm39) |
D939G |
probably damaging |
Het |
| Prkag3 |
T |
A |
1: 74,786,414 (GRCm39) |
Q177L |
probably benign |
Het |
| Rcor3 |
C |
A |
1: 191,785,945 (GRCm39) |
S431I |
probably damaging |
Het |
| Scrib |
G |
A |
15: 75,936,431 (GRCm39) |
T475I |
probably damaging |
Het |
| Serpinb1a |
T |
A |
13: 33,027,033 (GRCm39) |
D303V |
probably damaging |
Het |
| Snrnp25 |
T |
A |
11: 32,157,569 (GRCm39) |
V49E |
probably benign |
Het |
| Sobp |
A |
T |
10: 42,897,163 (GRCm39) |
Y807* |
probably null |
Het |
| Spata31e4 |
T |
A |
13: 50,856,900 (GRCm39) |
V846D |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,140,930 (GRCm39) |
V1570A |
probably benign |
Het |
| Srcin1 |
C |
T |
11: 97,422,742 (GRCm39) |
V731M |
probably damaging |
Het |
| Syt2 |
A |
T |
1: 134,675,330 (GRCm39) |
M394L |
possibly damaging |
Het |
| Tafa4 |
C |
T |
6: 96,840,847 (GRCm39) |
E49K |
probably damaging |
Het |
| Tert |
T |
A |
13: 73,797,074 (GRCm39) |
I1104N |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,621,439 (GRCm39) |
Y15667C |
probably damaging |
Het |
| Twnk |
A |
G |
19: 44,996,277 (GRCm39) |
T237A |
probably benign |
Het |
| Zfp157 |
T |
A |
5: 138,453,450 (GRCm39) |
|
probably null |
Het |
| Zfp503 |
C |
A |
14: 22,035,074 (GRCm39) |
S614I |
probably damaging |
Het |
| Zswim8 |
T |
A |
14: 20,758,072 (GRCm39) |
N52K |
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 |
|
|
R7783:Abcb9
|
UTSW |
5 |
124,216,875 (GRCm39) |
nonsense |
probably null |
|
|
R7953:Abcb9
|
UTSW |
5 |
124,211,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGACACCCAGTGACCAAGTG -3'
(R):5'- ATCCATCTCAGAAGCCCCTTAG -3'
Sequencing Primer
(F):5'- CCCAGTGACCAAGTGAAGACTG -3'
(R):5'- TCAGAAGCCCCTTAGCGTCC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation