Incidental Mutation 'R2520:Abcb9'
| ID |
254334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcb9
|
| Ensembl Gene |
ENSMUSG00000029408 |
| Gene Name |
ATP-binding cassette, sub-family B member 9 |
| Synonyms |
TAPL |
| MMRRC Submission |
040424-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2520 (G1)
|
| Quality Score |
174 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
124199920-124234009 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 124218091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031354]
[ENSMUST00000126856]
[ENSMUST00000141510]
|
| AlphaFold |
Q9JJ59 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031354
|
| SMART Domains |
Protein: ENSMUSP00000031354
Gene: ENSMUSG00000029408
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
T |
5: 3,625,773 (GRCm39) |
N70I |
probably damaging |
Het |
| 4930503B20Rik |
G |
A |
3: 146,356,261 (GRCm39) |
R216W |
probably damaging |
Het |
| Arhgdia |
A |
T |
11: 120,470,852 (GRCm39) |
V72E |
probably damaging |
Het |
| Arsb |
A |
T |
13: 94,077,207 (GRCm39) |
K525* |
probably null |
Het |
| Bckdha |
A |
C |
7: 25,341,124 (GRCm39) |
I79S |
probably benign |
Het |
| Carm1 |
G |
A |
9: 21,494,893 (GRCm39) |
|
probably null |
Het |
| Cers5 |
G |
A |
15: 99,634,262 (GRCm39) |
T362I |
probably damaging |
Het |
| Clec4b2 |
T |
A |
6: 123,177,942 (GRCm39) |
F86I |
probably damaging |
Het |
| Crispld1 |
G |
A |
1: 17,821,000 (GRCm39) |
D347N |
probably damaging |
Het |
| Csf3r |
A |
T |
4: 125,929,145 (GRCm39) |
T352S |
probably benign |
Het |
| Daam2 |
G |
A |
17: 49,787,785 (GRCm39) |
Q443* |
probably null |
Het |
| Dcbld1 |
A |
G |
10: 52,195,641 (GRCm39) |
D283G |
probably damaging |
Het |
| Dpp9 |
T |
C |
17: 56,513,868 (GRCm39) |
E82G |
probably damaging |
Het |
| Dync1li1 |
A |
G |
9: 114,518,074 (GRCm39) |
D42G |
probably null |
Het |
| Eml6 |
T |
C |
11: 29,741,993 (GRCm39) |
H1130R |
probably damaging |
Het |
| Enox1 |
A |
T |
14: 77,819,839 (GRCm39) |
Y198F |
probably damaging |
Het |
| Epop |
A |
G |
11: 97,519,554 (GRCm39) |
L185P |
probably benign |
Het |
| Frem1 |
A |
T |
4: 82,868,527 (GRCm39) |
C1485S |
probably damaging |
Het |
| Gbf1 |
T |
A |
19: 46,253,806 (GRCm39) |
S571T |
probably benign |
Het |
| Gm5965 |
A |
T |
16: 88,575,414 (GRCm39) |
I196F |
probably null |
Het |
| Gm8237 |
T |
A |
14: 5,863,642 (GRCm38) |
I8L |
possibly damaging |
Het |
| Gria2 |
A |
C |
3: 80,614,269 (GRCm39) |
N590K |
probably damaging |
Het |
| Hectd2 |
T |
A |
19: 36,589,633 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
T |
A |
1: 150,619,398 (GRCm39) |
T1239S |
possibly damaging |
Het |
| Hps3 |
A |
T |
3: 20,083,194 (GRCm39) |
D167E |
probably damaging |
Het |
| Htr1a |
A |
G |
13: 105,581,881 (GRCm39) |
S374G |
probably benign |
Het |
| Il16 |
C |
T |
7: 83,301,202 (GRCm39) |
G307S |
probably benign |
Het |
| Ipmk |
T |
C |
10: 71,217,047 (GRCm39) |
F198S |
probably damaging |
Het |
| Lyz2 |
T |
A |
10: 117,114,558 (GRCm39) |
I124F |
probably damaging |
Het |
| Maea |
T |
C |
5: 33,515,854 (GRCm39) |
V47A |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,020 (GRCm39) |
C220S |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,204,931 (GRCm39) |
K1595* |
probably null |
Het |
| Naga |
G |
T |
15: 82,214,295 (GRCm39) |
D405E |
probably benign |
Het |
| Nanog |
T |
A |
6: 122,690,418 (GRCm39) |
N249K |
probably benign |
Het |
| Nhlh1 |
G |
T |
1: 171,881,570 (GRCm39) |
R99S |
probably damaging |
Het |
| Ntrk2 |
T |
A |
13: 59,202,090 (GRCm39) |
|
probably null |
Het |
| Nudt2 |
A |
G |
4: 41,480,354 (GRCm39) |
E79G |
probably benign |
Het |
| Or2ad1 |
A |
T |
13: 21,326,746 (GRCm39) |
C160* |
probably null |
Het |
| Or4f60 |
A |
T |
2: 111,902,013 (GRCm39) |
M305K |
probably benign |
Het |
| Or52n2 |
T |
A |
7: 104,542,080 (GRCm39) |
I252F |
probably benign |
Het |
| Pitpnm2 |
T |
C |
5: 124,267,464 (GRCm39) |
D592G |
probably damaging |
Het |
| Prps1l3 |
T |
C |
12: 57,285,369 (GRCm39) |
V53A |
probably damaging |
Het |
| Psmd2 |
T |
G |
16: 20,481,826 (GRCm39) |
V853G |
probably damaging |
Het |
| Pycard |
A |
G |
7: 127,592,677 (GRCm39) |
I50T |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnf168 |
T |
A |
16: 32,097,221 (GRCm39) |
S99T |
probably benign |
Het |
| Rph3al |
A |
G |
11: 75,797,373 (GRCm39) |
S108P |
possibly damaging |
Het |
| Sdk1 |
G |
A |
5: 142,071,526 (GRCm39) |
A979T |
probably benign |
Het |
| Sec16a |
G |
A |
2: 26,331,368 (GRCm39) |
Q216* |
probably null |
Het |
| Slc35f3 |
T |
A |
8: 127,121,312 (GRCm39) |
V391E |
possibly damaging |
Het |
| Slf1 |
T |
A |
13: 77,199,384 (GRCm39) |
I666F |
probably damaging |
Het |
| Slfn14 |
A |
G |
11: 83,167,013 (GRCm39) |
V834A |
probably damaging |
Het |
| Tab2 |
G |
A |
10: 7,783,245 (GRCm39) |
P679L |
probably damaging |
Het |
| Tbc1d10b |
A |
G |
7: 126,799,455 (GRCm39) |
|
probably null |
Het |
| Tmeff1 |
T |
A |
4: 48,604,679 (GRCm39) |
C91S |
probably damaging |
Het |
| Tmem108 |
G |
T |
9: 103,366,481 (GRCm39) |
N503K |
possibly damaging |
Het |
| Trbv28 |
A |
G |
6: 41,248,541 (GRCm39) |
T24A |
probably damaging |
Het |
| Trim34b |
A |
G |
7: 103,980,446 (GRCm39) |
E178G |
probably damaging |
Het |
| Trmt1l |
T |
A |
1: 151,329,696 (GRCm39) |
H546Q |
probably benign |
Het |
| Ttc39d |
A |
G |
17: 80,523,799 (GRCm39) |
I153V |
probably benign |
Het |
| Ttll13 |
T |
C |
7: 79,899,964 (GRCm39) |
V101A |
probably damaging |
Het |
| Ubash3b |
A |
T |
9: 40,926,243 (GRCm39) |
H501Q |
probably damaging |
Het |
| Upf3a |
T |
A |
8: 13,846,443 (GRCm39) |
|
probably null |
Het |
| Usp48 |
A |
G |
4: 137,352,562 (GRCm39) |
S94G |
probably benign |
Het |
| Wdr86 |
T |
C |
5: 24,917,573 (GRCm39) |
*381W |
probably null |
Het |
| Wdr90 |
G |
A |
17: 26,074,326 (GRCm39) |
P680S |
probably damaging |
Het |
| Zbtb22 |
G |
A |
17: 34,135,956 (GRCm39) |
V34M |
probably damaging |
Het |
| Zbtb8a |
A |
G |
4: 129,253,689 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
| Zfp512b |
A |
G |
2: 181,231,295 (GRCm39) |
V295A |
probably damaging |
Het |
| Zfp608 |
A |
T |
18: 55,121,578 (GRCm39) |
V3E |
possibly damaging |
Het |
| Zfp748 |
G |
T |
13: 67,694,781 (GRCm39) |
D32E |
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 |
|
|
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 |
|
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'- GATACATGCTCCTACCGACC -3'
(R):5'- TCATCAGTTAGGAGGCGATGG -3'
Sequencing Primer
(F):5'- ACCCTGCCACCTTGTAGG -3'
(R):5'- TGTGCACAGAGGCTCTCCAAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation