Incidental Mutation 'R0035:Abcb6'
ID |
19387 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcb6
|
Ensembl Gene |
ENSMUSG00000026198 |
Gene Name |
ATP-binding cassette, sub-family B member 6 |
Synonyms |
1200005B17Rik |
MMRRC Submission |
038329-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.308)
|
Stock # |
R0035 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
1 |
Chromosomal Location |
75148361-75157036 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 75151651 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 473
(V473A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027396
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027394]
[ENSMUST00000027396]
[ENSMUST00000160439]
[ENSMUST00000162768]
[ENSMUST00000161215]
|
AlphaFold |
Q9DC29 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027394
|
SMART Domains |
Protein: ENSMUSP00000027394 Gene: ENSMUSG00000026197
Domain | Start | End | E-Value | Type |
ZnF_AN1
|
10 |
49 |
2e-4 |
SMART |
low complexity region
|
54 |
66 |
N/A |
INTRINSIC |
ZnF_AN1
|
100 |
139 |
6.69e-3 |
SMART |
low complexity region
|
155 |
179 |
N/A |
INTRINSIC |
UIM
|
197 |
216 |
1.3e-2 |
SMART |
UIM
|
221 |
240 |
1.26e0 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027396
AA Change: V473A
PolyPhen 2
Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000027396 Gene: ENSMUSG00000026198 AA Change: V473A
Domain | Start | End | E-Value | Type |
Pfam:MTABC_N
|
6 |
255 |
7.8e-80 |
PFAM |
Pfam:ABC_membrane
|
265 |
544 |
3.7e-34 |
PFAM |
AAA
|
615 |
816 |
1.29e-19 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159219
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160033
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160081
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160282
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160439
|
SMART Domains |
Protein: ENSMUSP00000125086 Gene: ENSMUSG00000026197
Domain | Start | End | E-Value | Type |
ZnF_AN1
|
10 |
49 |
2e-4 |
SMART |
low complexity region
|
54 |
66 |
N/A |
INTRINSIC |
ZnF_AN1
|
100 |
139 |
6.69e-3 |
SMART |
low complexity region
|
155 |
179 |
N/A |
INTRINSIC |
UIM
|
197 |
216 |
1.3e-2 |
SMART |
UIM
|
221 |
240 |
1.26e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160757
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161103
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161106
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185727
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162768
|
SMART Domains |
Protein: ENSMUSP00000124552 Gene: ENSMUSG00000026197
Domain | Start | End | E-Value | Type |
ZnF_AN1
|
10 |
49 |
2e-4 |
SMART |
low complexity region
|
54 |
66 |
N/A |
INTRINSIC |
ZnF_AN1
|
100 |
139 |
6.69e-3 |
SMART |
low complexity region
|
155 |
179 |
N/A |
INTRINSIC |
UIM
|
197 |
216 |
1.3e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186227
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161215
|
SMART Domains |
Protein: ENSMUSP00000124630 Gene: ENSMUSG00000026198
Domain | Start | End | E-Value | Type |
SCOP:d1jj7a_
|
5 |
78 |
8e-23 |
SMART |
Blast:AAA
|
23 |
71 |
9e-25 |
BLAST |
PDB:3NHB|A
|
23 |
94 |
3e-36 |
PDB |
|
Meta Mutation Damage Score |
0.4717 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.1%
|
Validation Efficiency |
99% (70/71) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. This half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null mutation display partial lethality, impaired stress erythropoiesis, and absence of ATP-dependent transport of Coproporphyrin III in mitochondria. [provided by MGI curators]
|
Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110040N11Rik |
T |
C |
7: 81,438,297 (GRCm39) |
T20A |
probably benign |
Het |
Aadacl4 |
A |
G |
4: 144,344,511 (GRCm39) |
T96A |
probably damaging |
Het |
Abo |
C |
A |
2: 26,733,385 (GRCm39) |
K273N |
possibly damaging |
Het |
Acvr1c |
A |
G |
2: 58,205,791 (GRCm39) |
|
probably benign |
Het |
Adcy8 |
A |
T |
15: 64,571,217 (GRCm39) |
V1142D |
probably benign |
Het |
Akna |
T |
A |
4: 63,300,682 (GRCm39) |
H591L |
probably benign |
Het |
Aox1 |
T |
C |
1: 58,393,581 (GRCm39) |
V1247A |
probably benign |
Het |
Ap4b1 |
T |
C |
3: 103,727,980 (GRCm39) |
|
probably benign |
Het |
Armh3 |
A |
T |
19: 45,879,679 (GRCm39) |
M558K |
probably damaging |
Het |
Atm |
A |
G |
9: 53,424,480 (GRCm39) |
V607A |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,041,747 (GRCm39) |
Y2708* |
probably null |
Het |
Cass4 |
C |
T |
2: 172,258,412 (GRCm39) |
P137S |
probably damaging |
Het |
Cfap53 |
A |
G |
18: 74,433,278 (GRCm39) |
E121G |
probably damaging |
Het |
Chmp6 |
T |
C |
11: 119,807,508 (GRCm39) |
V31A |
probably damaging |
Het |
Clec4a3 |
T |
A |
6: 122,944,508 (GRCm39) |
Y185N |
probably damaging |
Het |
Clic5 |
A |
G |
17: 44,586,200 (GRCm39) |
T230A |
probably damaging |
Het |
Clspn |
G |
T |
4: 126,458,796 (GRCm39) |
|
probably null |
Het |
Cntn1 |
T |
A |
15: 92,129,969 (GRCm39) |
|
probably benign |
Het |
Col4a3 |
G |
A |
1: 82,650,474 (GRCm39) |
G577R |
unknown |
Het |
Defa21 |
T |
A |
8: 21,515,784 (GRCm39) |
|
probably null |
Het |
Deup1 |
T |
C |
9: 15,511,117 (GRCm39) |
R221G |
possibly damaging |
Het |
Dnah8 |
A |
T |
17: 30,902,595 (GRCm39) |
|
probably benign |
Het |
Dnase1l2 |
A |
G |
17: 24,660,049 (GRCm39) |
V273A |
probably damaging |
Het |
Gm5134 |
T |
A |
10: 75,829,698 (GRCm39) |
F328Y |
probably benign |
Het |
Golph3 |
A |
T |
15: 12,339,776 (GRCm39) |
E96D |
probably damaging |
Het |
Hspd1 |
A |
G |
1: 55,122,942 (GRCm39) |
V151A |
probably benign |
Het |
Htr1f |
A |
C |
16: 64,746,860 (GRCm39) |
I144S |
probably damaging |
Het |
Il23r |
A |
G |
6: 67,450,772 (GRCm39) |
|
probably benign |
Het |
Il25 |
A |
G |
14: 55,170,553 (GRCm39) |
E42G |
probably damaging |
Het |
Il36b |
A |
T |
2: 24,049,890 (GRCm39) |
H167L |
probably benign |
Het |
Klrb1-ps1 |
C |
T |
6: 129,106,306 (GRCm39) |
A149V |
possibly damaging |
Het |
Kmt2e |
T |
A |
5: 23,690,619 (GRCm39) |
|
probably benign |
Het |
Ktn1 |
A |
G |
14: 47,967,836 (GRCm39) |
N1167D |
probably benign |
Het |
Lama4 |
T |
A |
10: 38,948,734 (GRCm39) |
D832E |
probably benign |
Het |
Map1b |
A |
G |
13: 99,571,846 (GRCm39) |
S292P |
probably damaging |
Het |
Map6 |
C |
T |
7: 98,966,815 (GRCm39) |
T345I |
probably damaging |
Het |
Mark2 |
A |
T |
19: 7,262,017 (GRCm39) |
|
probably benign |
Het |
Me3 |
C |
A |
7: 89,500,967 (GRCm39) |
H559Q |
probably benign |
Het |
Myo1b |
A |
G |
1: 51,817,541 (GRCm39) |
F574L |
probably damaging |
Het |
Nos2 |
T |
C |
11: 78,836,553 (GRCm39) |
S431P |
probably damaging |
Het |
Nr1h5 |
T |
A |
3: 102,856,889 (GRCm39) |
K208* |
probably null |
Het |
Nup214 |
T |
C |
2: 31,880,379 (GRCm39) |
|
probably null |
Het |
Obp2b |
T |
C |
2: 25,628,645 (GRCm39) |
L133P |
probably damaging |
Het |
Or14a259 |
T |
C |
7: 86,013,395 (GRCm39) |
D50G |
possibly damaging |
Het |
Or5k1 |
A |
T |
16: 58,617,485 (GRCm39) |
C241* |
probably null |
Het |
Osbp2 |
C |
T |
11: 3,667,997 (GRCm39) |
|
probably benign |
Het |
Ptafr |
C |
A |
4: 132,306,864 (GRCm39) |
L85I |
probably benign |
Het |
Ptprk |
T |
A |
10: 28,139,504 (GRCm39) |
Y76* |
probably null |
Het |
Rad50 |
A |
G |
11: 53,545,854 (GRCm39) |
|
probably benign |
Het |
Rasef |
G |
T |
4: 73,681,091 (GRCm39) |
|
probably benign |
Het |
Slitrk6 |
A |
T |
14: 110,987,364 (GRCm39) |
L781H |
probably damaging |
Het |
Tbc1d1 |
T |
A |
5: 64,414,080 (GRCm39) |
I18N |
probably damaging |
Het |
Tbc1d17 |
T |
C |
7: 44,490,832 (GRCm39) |
N587D |
probably benign |
Het |
Trank1 |
A |
T |
9: 111,195,844 (GRCm39) |
K1289N |
probably benign |
Het |
Tspyl3 |
A |
G |
2: 153,066,240 (GRCm39) |
S333P |
probably damaging |
Het |
Ush2a |
G |
A |
1: 188,089,085 (GRCm39) |
V347I |
probably benign |
Het |
Usp17le |
G |
T |
7: 104,418,269 (GRCm39) |
S291* |
probably null |
Het |
Usp24 |
T |
A |
4: 106,225,224 (GRCm39) |
S619T |
probably benign |
Het |
Vmn2r10 |
T |
C |
5: 109,145,467 (GRCm39) |
|
probably benign |
Het |
Vmn2r78 |
A |
G |
7: 86,569,413 (GRCm39) |
E102G |
probably benign |
Het |
Vwa3b |
G |
A |
1: 37,204,770 (GRCm39) |
V85I |
possibly damaging |
Het |
Wwp1 |
A |
C |
4: 19,631,116 (GRCm39) |
I639R |
probably damaging |
Het |
Xpo5 |
A |
G |
17: 46,551,101 (GRCm39) |
T1001A |
probably benign |
Het |
Zc3h12c |
A |
T |
9: 52,055,047 (GRCm39) |
M235K |
probably benign |
Het |
Zfp619 |
G |
A |
7: 39,186,706 (GRCm39) |
G912D |
probably damaging |
Het |
|
Other mutations in Abcb6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02836:Abcb6
|
APN |
1 |
75,154,646 (GRCm39) |
missense |
probably damaging |
0.96 |
1mM(1):Abcb6
|
UTSW |
1 |
75,148,755 (GRCm39) |
unclassified |
probably benign |
|
R0699:Abcb6
|
UTSW |
1 |
75,148,553 (GRCm39) |
missense |
probably damaging |
0.98 |
R1470:Abcb6
|
UTSW |
1 |
75,149,323 (GRCm39) |
unclassified |
probably benign |
|
R1595:Abcb6
|
UTSW |
1 |
75,153,944 (GRCm39) |
splice site |
probably null |
|
R1912:Abcb6
|
UTSW |
1 |
75,156,599 (GRCm39) |
missense |
probably benign |
|
R2078:Abcb6
|
UTSW |
1 |
75,148,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R3105:Abcb6
|
UTSW |
1 |
75,151,687 (GRCm39) |
unclassified |
probably benign |
|
R4015:Abcb6
|
UTSW |
1 |
75,151,135 (GRCm39) |
splice site |
probably null |
|
R4604:Abcb6
|
UTSW |
1 |
75,156,521 (GRCm39) |
missense |
probably benign |
|
R4633:Abcb6
|
UTSW |
1 |
75,154,426 (GRCm39) |
unclassified |
probably benign |
|
R4748:Abcb6
|
UTSW |
1 |
75,154,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R5530:Abcb6
|
UTSW |
1 |
75,154,556 (GRCm39) |
unclassified |
probably benign |
|
R5654:Abcb6
|
UTSW |
1 |
75,151,479 (GRCm39) |
splice site |
probably null |
|
R5841:Abcb6
|
UTSW |
1 |
75,150,994 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6275:Abcb6
|
UTSW |
1 |
75,149,195 (GRCm39) |
splice site |
probably null |
|
R6527:Abcb6
|
UTSW |
1 |
75,154,132 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7188:Abcb6
|
UTSW |
1 |
75,150,781 (GRCm39) |
critical splice donor site |
probably null |
|
R7278:Abcb6
|
UTSW |
1 |
75,151,017 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7451:Abcb6
|
UTSW |
1 |
75,148,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R7481:Abcb6
|
UTSW |
1 |
75,150,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R7608:Abcb6
|
UTSW |
1 |
75,154,347 (GRCm39) |
missense |
probably benign |
0.01 |
R7640:Abcb6
|
UTSW |
1 |
75,151,489 (GRCm39) |
splice site |
probably null |
|
R7883:Abcb6
|
UTSW |
1 |
75,154,660 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7982:Abcb6
|
UTSW |
1 |
75,150,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R8057:Abcb6
|
UTSW |
1 |
75,151,002 (GRCm39) |
missense |
probably damaging |
0.99 |
R8058:Abcb6
|
UTSW |
1 |
75,156,653 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8155:Abcb6
|
UTSW |
1 |
75,151,413 (GRCm39) |
missense |
probably damaging |
0.99 |
R8309:Abcb6
|
UTSW |
1 |
75,149,588 (GRCm39) |
missense |
probably benign |
0.43 |
R9087:Abcb6
|
UTSW |
1 |
75,150,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R9599:Abcb6
|
UTSW |
1 |
75,151,372 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9723:Abcb6
|
UTSW |
1 |
75,156,366 (GRCm39) |
missense |
probably benign |
|
X0009:Abcb6
|
UTSW |
1 |
75,151,197 (GRCm39) |
missense |
probably benign |
0.35 |
Z1177:Abcb6
|
UTSW |
1 |
75,152,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCTGATTCAGCACAACCAGTGAGG -3'
(R):5'- AACGGTAACAGTCGCCCTGAGATG -3'
Sequencing Primer
(F):5'- TGAGGCGGTTGACTTCCAC -3'
(R):5'- gaagcagaggcaggtgg -3'
|
Posted On |
2013-04-11 |