Incidental Mutation 'IGL02836:Abcb6'
ID |
361646 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Abcb6
|
Ensembl Gene |
ENSMUSG00000026198 |
Gene Name |
ATP-binding cassette, sub-family B member 6 |
Synonyms |
1200005B17Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.308)
|
Stock # |
IGL02836
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
75148361-75157036 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 75154646 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 263
(L263P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027396
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027396]
[ENSMUST00000040689]
[ENSMUST00000188347]
[ENSMUST00000189702]
[ENSMUST00000189665]
|
AlphaFold |
Q9DC29 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027396
AA Change: L263P
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000027396 Gene: ENSMUSG00000026198 AA Change: L263P
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 |
probably benign
Transcript: ENSMUST00000040689
|
SMART Domains |
Protein: ENSMUSP00000047449 Gene: ENSMUSG00000033124
Domain | Start | End | E-Value | Type |
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
transmembrane domain
|
126 |
148 |
N/A |
INTRINSIC |
Pfam:APG9
|
173 |
530 |
3.4e-134 |
PFAM |
low complexity region
|
588 |
599 |
N/A |
INTRINSIC |
low complexity region
|
607 |
621 |
N/A |
INTRINSIC |
Blast:HELICc
|
692 |
733 |
1e-13 |
BLAST |
low complexity region
|
734 |
755 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159219
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160081
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160757
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161103
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185727
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188347
|
SMART Domains |
Protein: ENSMUSP00000139731 Gene: ENSMUSG00000033124
Domain | Start | End | E-Value | Type |
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
transmembrane domain
|
126 |
148 |
N/A |
INTRINSIC |
Pfam:APG9
|
172 |
533 |
2.4e-140 |
PFAM |
low complexity region
|
588 |
599 |
N/A |
INTRINSIC |
low complexity region
|
607 |
621 |
N/A |
INTRINSIC |
Blast:HELICc
|
692 |
733 |
1e-13 |
BLAST |
low complexity region
|
734 |
755 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187785
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189820
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189702
|
SMART Domains |
Protein: ENSMUSP00000139641 Gene: ENSMUSG00000033124
Domain | Start | End | E-Value | Type |
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
transmembrane domain
|
126 |
148 |
N/A |
INTRINSIC |
Pfam:APG9
|
172 |
533 |
2.4e-140 |
PFAM |
low complexity region
|
588 |
599 |
N/A |
INTRINSIC |
low complexity region
|
607 |
621 |
N/A |
INTRINSIC |
Blast:HELICc
|
692 |
733 |
1e-13 |
BLAST |
low complexity region
|
734 |
755 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189665
|
SMART Domains |
Protein: ENSMUSP00000140012 Gene: ENSMUSG00000033124
Domain | Start | End | E-Value | Type |
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
transmembrane domain
|
126 |
148 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
T |
A |
4: 144,349,782 (GRCm39) |
N346K |
possibly damaging |
Het |
Abca15 |
A |
G |
7: 119,987,439 (GRCm39) |
M1242V |
probably benign |
Het |
Abca6 |
T |
A |
11: 110,139,374 (GRCm39) |
E33D |
probably damaging |
Het |
Abca8a |
T |
C |
11: 109,961,177 (GRCm39) |
K582E |
possibly damaging |
Het |
Adamts2 |
A |
C |
11: 50,678,106 (GRCm39) |
E795A |
probably damaging |
Het |
Avil |
T |
A |
10: 126,844,864 (GRCm39) |
I292N |
probably damaging |
Het |
Cd300ld2 |
T |
C |
11: 114,904,576 (GRCm39) |
D97G |
probably benign |
Het |
Cfh |
A |
C |
1: 140,030,137 (GRCm39) |
I912R |
probably damaging |
Het |
Cyp26c1 |
A |
T |
19: 37,675,604 (GRCm39) |
Q156L |
probably benign |
Het |
Dhx57 |
T |
C |
17: 80,574,978 (GRCm39) |
I614V |
probably damaging |
Het |
Dip2c |
T |
A |
13: 9,660,826 (GRCm39) |
S896T |
probably damaging |
Het |
Dmtn |
G |
T |
14: 70,853,518 (GRCm39) |
P97Q |
probably damaging |
Het |
Dock6 |
A |
T |
9: 21,713,160 (GRCm39) |
V1931E |
probably damaging |
Het |
Dpep2 |
C |
A |
8: 106,717,227 (GRCm39) |
|
probably null |
Het |
Dsg1c |
T |
A |
18: 20,400,986 (GRCm39) |
L163Q |
probably benign |
Het |
Esyt3 |
A |
G |
9: 99,202,960 (GRCm39) |
|
probably benign |
Het |
Fcgbp |
T |
A |
7: 27,816,783 (GRCm39) |
I2415N |
possibly damaging |
Het |
Fpr-rs6 |
T |
C |
17: 20,403,307 (GRCm39) |
D18G |
probably benign |
Het |
Fras1 |
T |
C |
5: 96,682,725 (GRCm39) |
V74A |
possibly damaging |
Het |
Frem3 |
T |
C |
8: 81,341,010 (GRCm39) |
V1101A |
probably benign |
Het |
Fut8 |
T |
A |
12: 77,496,987 (GRCm39) |
V399E |
probably benign |
Het |
Galntl5 |
G |
T |
5: 25,391,237 (GRCm39) |
K45N |
probably benign |
Het |
Gbe1 |
A |
G |
16: 70,357,983 (GRCm39) |
Y669C |
possibly damaging |
Het |
Gcnt1 |
T |
C |
19: 17,307,493 (GRCm39) |
I77M |
probably benign |
Het |
Itprid1 |
T |
A |
6: 55,875,075 (GRCm39) |
W342R |
probably damaging |
Het |
Mark2 |
A |
G |
19: 7,255,405 (GRCm39) |
|
probably null |
Het |
Muc2 |
A |
T |
7: 141,300,450 (GRCm39) |
|
probably benign |
Het |
Nacc2 |
C |
T |
2: 25,980,329 (GRCm39) |
V36I |
probably damaging |
Het |
Nphp1 |
T |
C |
2: 127,611,543 (GRCm39) |
I268V |
probably benign |
Het |
Oosp3 |
A |
G |
19: 11,678,332 (GRCm39) |
I5V |
probably benign |
Het |
Or9m1 |
T |
G |
2: 87,733,724 (GRCm39) |
T99P |
possibly damaging |
Het |
Pex7 |
A |
G |
10: 19,769,990 (GRCm39) |
|
probably benign |
Het |
Prr14l |
T |
C |
5: 32,988,440 (GRCm39) |
K352E |
probably benign |
Het |
Rheb |
T |
A |
5: 25,008,709 (GRCm39) |
I170F |
probably benign |
Het |
Rpgrip1 |
A |
G |
14: 52,382,714 (GRCm39) |
|
probably null |
Het |
Rps2 |
T |
A |
17: 24,939,650 (GRCm39) |
L107Q |
probably damaging |
Het |
Rrp1 |
A |
T |
10: 78,240,874 (GRCm39) |
|
probably benign |
Het |
Rtcb |
A |
T |
10: 85,779,806 (GRCm39) |
V288D |
possibly damaging |
Het |
Sec14l3 |
T |
C |
11: 4,020,084 (GRCm39) |
F174L |
probably benign |
Het |
Slc28a1 |
G |
A |
7: 80,775,909 (GRCm39) |
V202M |
probably damaging |
Het |
Slc44a3 |
A |
T |
3: 121,325,366 (GRCm39) |
C32S |
probably damaging |
Het |
Syne1 |
G |
A |
10: 5,359,875 (GRCm39) |
|
probably benign |
Het |
Synrg |
C |
A |
11: 83,892,804 (GRCm39) |
|
probably benign |
Het |
Tmem219 |
A |
T |
7: 126,488,121 (GRCm39) |
F265I |
probably benign |
Het |
Tmem94 |
T |
C |
11: 115,683,765 (GRCm39) |
I726T |
probably damaging |
Het |
Trim37 |
T |
C |
11: 87,087,785 (GRCm39) |
M632T |
probably benign |
Het |
Trpm6 |
A |
T |
19: 18,790,846 (GRCm39) |
Q627L |
probably damaging |
Het |
Uvrag |
A |
G |
7: 98,628,984 (GRCm39) |
V361A |
possibly damaging |
Het |
Yipf3 |
C |
A |
17: 46,562,520 (GRCm39) |
N308K |
possibly damaging |
Het |
Zfp438 |
A |
G |
18: 5,245,427 (GRCm39) |
|
probably benign |
Het |
Zmiz1 |
T |
A |
14: 25,657,166 (GRCm39) |
|
probably benign |
Het |
Zranb3 |
A |
G |
1: 127,888,562 (GRCm39) |
V841A |
probably benign |
Het |
|
Other mutations in Abcb6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
1mM(1):Abcb6
|
UTSW |
1 |
75,148,755 (GRCm39) |
unclassified |
probably benign |
|
R0035:Abcb6
|
UTSW |
1 |
75,151,651 (GRCm39) |
missense |
possibly damaging |
0.74 |
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 |
|
Posted On |
2015-12-18 |