Incidental Mutation 'R5116:Abcb9'
| ID |
394189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcb9
|
| Ensembl Gene |
ENSMUSG00000029408 |
| Gene Name |
ATP-binding cassette, sub-family B member 9 |
| Synonyms |
TAPL |
| MMRRC Submission |
042704-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5116 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124199920-124234009 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124216930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 429
(H429R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031354]
[ENSMUST00000126856]
[ENSMUST00000141510]
|
| AlphaFold |
Q9JJ59 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031354
AA Change: H429R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031354
Gene: ENSMUSG00000029408
AA Change: H429R
| 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
|
| Meta Mutation Damage Score |
0.2998 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.5%
|
| Validation Efficiency |
97% (59/61) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
G |
T |
8: 41,278,038 (GRCm39) |
C143F |
probably damaging |
Het |
| Adamts19 |
T |
C |
18: 59,036,066 (GRCm39) |
V417A |
possibly damaging |
Het |
| Adcy10 |
C |
A |
1: 165,347,069 (GRCm39) |
A362E |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,188,298 (GRCm39) |
E1904G |
probably benign |
Het |
| Aldh18a1 |
A |
G |
19: 40,541,949 (GRCm39) |
M89T |
probably benign |
Het |
| Alyref |
G |
T |
11: 120,488,554 (GRCm39) |
F91L |
probably benign |
Het |
| Capn3 |
G |
T |
2: 120,315,773 (GRCm39) |
M248I |
probably benign |
Het |
| Catsper4 |
A |
T |
4: 133,953,991 (GRCm39) |
I56N |
probably damaging |
Het |
| Cckbr |
T |
A |
7: 105,082,862 (GRCm39) |
I75N |
probably damaging |
Het |
| Ccr8 |
T |
C |
9: 119,923,095 (GRCm39) |
I70T |
probably benign |
Het |
| Cdh24 |
T |
C |
14: 54,873,870 (GRCm39) |
D428G |
probably benign |
Het |
| Cdk5rap2 |
G |
T |
4: 70,225,475 (GRCm39) |
Q557K |
possibly damaging |
Het |
| Clip1 |
C |
T |
5: 123,768,770 (GRCm39) |
A610T |
probably benign |
Het |
| Dnajc16 |
A |
T |
4: 141,495,280 (GRCm39) |
Y479* |
probably null |
Het |
| Fpr-rs3 |
A |
G |
17: 20,844,562 (GRCm39) |
V193A |
probably benign |
Het |
| Gm29125 |
T |
C |
1: 80,361,690 (GRCm39) |
|
noncoding transcript |
Het |
| H1f4 |
A |
G |
13: 23,806,270 (GRCm39) |
Y71H |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,505,549 (GRCm39) |
|
probably benign |
Het |
| Immp1l |
G |
A |
2: 105,795,640 (GRCm39) |
R155H |
probably benign |
Het |
| Itgad |
C |
A |
7: 127,803,065 (GRCm39) |
T7K |
probably damaging |
Het |
| Itgb3 |
T |
C |
11: 104,531,903 (GRCm39) |
V370A |
probably benign |
Het |
| Jak1 |
A |
G |
4: 101,012,310 (GRCm39) |
I1053T |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,080,521 (GRCm39) |
R572G |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 26,994,556 (GRCm39) |
D1784E |
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,856,511 (GRCm39) |
V651D |
probably damaging |
Het |
| Mrpl47 |
A |
G |
3: 32,787,750 (GRCm39) |
L100S |
probably damaging |
Het |
| Mx1 |
T |
G |
16: 97,258,679 (GRCm39) |
N6T |
possibly damaging |
Het |
| Nde1 |
T |
A |
16: 14,001,351 (GRCm39) |
M133K |
probably benign |
Het |
| Nlrc5 |
T |
C |
8: 95,208,488 (GRCm39) |
L778P |
probably damaging |
Het |
| Odad3 |
A |
G |
9: 21,901,424 (GRCm39) |
*595Q |
probably null |
Het |
| Or52e19b |
G |
A |
7: 103,033,071 (GRCm39) |
T46I |
probably benign |
Het |
| Or5l13 |
G |
A |
2: 87,779,873 (GRCm39) |
R235C |
probably benign |
Het |
| Or6c3b |
A |
G |
10: 129,527,266 (GRCm39) |
S215P |
probably damaging |
Het |
| Or7g32 |
A |
G |
9: 19,389,094 (GRCm39) |
S151P |
possibly damaging |
Het |
| Or8b38 |
T |
C |
9: 37,972,634 (GRCm39) |
V6A |
probably benign |
Het |
| Otog |
T |
C |
7: 45,923,191 (GRCm39) |
V1022A |
probably benign |
Het |
| Pcdhac1 |
G |
A |
18: 37,224,500 (GRCm39) |
V438M |
probably damaging |
Het |
| Pcsk5 |
G |
A |
19: 17,440,798 (GRCm39) |
S1264F |
possibly damaging |
Het |
| Pfas |
T |
C |
11: 68,881,816 (GRCm39) |
|
probably benign |
Het |
| Pigr |
T |
A |
1: 130,776,768 (GRCm39) |
F648I |
probably benign |
Het |
| Pla2r1 |
A |
C |
2: 60,279,250 (GRCm39) |
Y777D |
probably damaging |
Het |
| Pnpla7 |
G |
T |
2: 24,911,982 (GRCm39) |
G716V |
probably damaging |
Het |
| Rab11fip5 |
C |
T |
6: 85,325,789 (GRCm39) |
E206K |
probably damaging |
Het |
| S100a10 |
A |
G |
3: 93,468,247 (GRCm39) |
|
probably null |
Het |
| Slc35f1 |
T |
C |
10: 52,897,991 (GRCm39) |
I134T |
probably benign |
Het |
| Smarcd1 |
C |
T |
15: 99,600,369 (GRCm39) |
A56V |
probably benign |
Het |
| Snrk |
A |
G |
9: 121,989,396 (GRCm39) |
T247A |
probably benign |
Het |
| Srgap1 |
A |
G |
10: 121,628,284 (GRCm39) |
L896P |
possibly damaging |
Het |
| Tmem19 |
A |
T |
10: 115,179,651 (GRCm39) |
F167I |
probably benign |
Het |
| Tmprss11f |
T |
C |
5: 86,687,555 (GRCm39) |
S118G |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,885,452 (GRCm39) |
|
probably null |
Het |
| Trem3 |
T |
C |
17: 48,556,580 (GRCm39) |
L17P |
probably benign |
Het |
| Upp2 |
A |
G |
2: 58,661,554 (GRCm39) |
Y67C |
probably damaging |
Het |
| Zfp276 |
A |
G |
8: 123,991,716 (GRCm39) |
|
probably benign |
Het |
| Zfp932 |
T |
A |
5: 110,157,242 (GRCm39) |
D280E |
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 |
|
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'- GATGGGTCTTACTGCCGTCTTC -3'
(R):5'- GTGGGAAAAGACACTGTCACC -3'
Sequencing Primer
(F):5'- TCCACGCGTTCTGTTTGG -3'
(R):5'- AAGCCCGGTGATCTGAGGTC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation