Incidental Mutation 'R7188:Abcb6'
| ID |
559397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcb6
|
| Ensembl Gene |
ENSMUSG00000026198 |
| Gene Name |
ATP-binding cassette, sub-family B member 6 |
| Synonyms |
1200005B17Rik |
| MMRRC Submission |
045272-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.290)
|
| Stock # |
R7188 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
75148361-75157036 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 75150781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027396
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027394]
[ENSMUST00000027396]
[ENSMUST00000160439]
[ENSMUST00000161215]
[ENSMUST00000162768]
|
| 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 |
probably null
Transcript: ENSMUST00000027396
|
| SMART Domains |
Protein: ENSMUSP00000027396
Gene: ENSMUSG00000026198
| 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: 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 |
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 |
|
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,554,600 (GRCm39) |
Y118C |
possibly damaging |
Het |
| Acox2 |
T |
A |
14: 8,252,996 (GRCm38) |
I236L |
possibly damaging |
Het |
| Adamts12 |
A |
T |
15: 11,336,411 (GRCm39) |
K1499* |
probably null |
Het |
| Ankrd24 |
G |
T |
10: 81,472,224 (GRCm39) |
E20* |
probably null |
Het |
| Arsa |
A |
T |
15: 89,359,830 (GRCm39) |
Y32* |
probably null |
Het |
| Atp9b |
A |
G |
18: 80,961,041 (GRCm39) |
S57P |
|
Het |
| Atr |
G |
T |
9: 95,744,844 (GRCm39) |
E54* |
probably null |
Het |
| Bace1 |
A |
G |
9: 45,767,393 (GRCm39) |
D192G |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,004,162 (GRCm39) |
T1624S |
probably benign |
Het |
| Bltp3b |
T |
C |
10: 89,615,744 (GRCm39) |
V129A |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,811,790 (GRCm39) |
S1309G |
probably benign |
Het |
| Cd177 |
G |
T |
7: 24,456,072 (GRCm39) |
T232K |
probably damaging |
Het |
| Chil4 |
T |
A |
3: 106,111,475 (GRCm39) |
D213V |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,182,546 (GRCm39) |
I3538N |
probably damaging |
Het |
| Cyp26a1 |
T |
A |
19: 37,687,753 (GRCm39) |
M287K |
possibly damaging |
Het |
| Dcaf5 |
T |
C |
12: 80,446,732 (GRCm39) |
D129G |
probably damaging |
Het |
| Dnah12 |
A |
C |
14: 26,536,370 (GRCm39) |
K2095N |
probably benign |
Het |
| Dnpep |
G |
A |
1: 75,292,701 (GRCm39) |
S106L |
probably damaging |
Het |
| Dock2 |
C |
T |
11: 34,189,675 (GRCm39) |
E1499K |
possibly damaging |
Het |
| Dus4l |
A |
G |
12: 31,696,714 (GRCm39) |
F88L |
probably damaging |
Het |
| Fcrl2 |
A |
C |
3: 87,166,830 (GRCm39) |
D54E |
probably benign |
Het |
| Fign |
T |
A |
2: 63,809,950 (GRCm39) |
H440L |
possibly damaging |
Het |
| Gabpa |
A |
G |
16: 84,643,174 (GRCm39) |
D157G |
probably damaging |
Het |
| Gapdh |
T |
A |
6: 125,142,403 (GRCm39) |
|
probably benign |
Het |
| Gbp8 |
G |
T |
5: 105,164,081 (GRCm39) |
R406S |
probably benign |
Het |
| Gm21775 |
A |
G |
Y: 10,553,894 (GRCm39) |
R148G |
possibly damaging |
Het |
| Gm28363 |
G |
A |
1: 117,626,579 (GRCm39) |
V6I |
unknown |
Het |
| Gmps |
A |
G |
3: 63,918,982 (GRCm39) |
D522G |
probably damaging |
Het |
| Gpr75 |
T |
C |
11: 30,842,687 (GRCm39) |
S531P |
probably damaging |
Het |
| Hars2 |
G |
T |
18: 36,923,614 (GRCm39) |
E468D |
probably benign |
Het |
| Jph4 |
C |
A |
14: 55,352,664 (GRCm39) |
R23L |
probably damaging |
Het |
| Kctd12 |
T |
A |
14: 103,219,230 (GRCm39) |
Y216F |
probably benign |
Het |
| L3mbtl1 |
G |
A |
2: 162,791,460 (GRCm39) |
|
probably null |
Het |
| Lama4 |
G |
A |
10: 38,841,729 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
A |
13: 13,926,675 (GRCm39) |
S3494T |
possibly damaging |
Het |
| Mybpc2 |
A |
G |
7: 44,155,617 (GRCm39) |
S879P |
probably benign |
Het |
| Ncaph |
C |
T |
2: 126,964,034 (GRCm39) |
V304M |
probably benign |
Het |
| Noto |
A |
T |
6: 85,405,047 (GRCm39) |
I229F |
possibly damaging |
Het |
| Or10n7-ps1 |
T |
C |
9: 39,597,731 (GRCm39) |
M170V |
unknown |
Het |
| Or4c29 |
T |
C |
2: 88,740,203 (GRCm39) |
D178G |
probably damaging |
Het |
| Or8k25 |
T |
A |
2: 86,243,695 (GRCm39) |
K234* |
probably null |
Het |
| Pald1 |
A |
T |
10: 61,182,845 (GRCm39) |
V368E |
probably damaging |
Het |
| Pde9a |
T |
A |
17: 31,678,071 (GRCm39) |
M217K |
probably damaging |
Het |
| Pira1 |
A |
T |
7: 3,741,828 (GRCm39) |
V184E |
probably damaging |
Het |
| Pitpnm2 |
G |
T |
5: 124,259,366 (GRCm39) |
A1323E |
probably benign |
Het |
| Ppp1r3a |
T |
C |
6: 14,719,190 (GRCm39) |
S575G |
probably benign |
Het |
| Prok1 |
T |
C |
3: 107,146,941 (GRCm39) |
I9V |
probably benign |
Het |
| Ptprc |
A |
T |
1: 137,998,918 (GRCm39) |
V905D |
probably damaging |
Het |
| Rbm25 |
G |
T |
12: 83,710,772 (GRCm39) |
G295V |
unknown |
Het |
| Rreb1 |
T |
C |
13: 38,100,544 (GRCm39) |
M225T |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,858,989 (GRCm39) |
K55E |
probably damaging |
Het |
| Saxo4 |
T |
A |
19: 10,459,702 (GRCm39) |
M2L |
probably benign |
Het |
| Scgb2b26 |
G |
T |
7: 33,644,379 (GRCm39) |
T4K |
probably damaging |
Het |
| Setx |
C |
A |
2: 29,038,184 (GRCm39) |
D1556E |
probably benign |
Het |
| Sft2d1 |
C |
T |
17: 8,542,164 (GRCm39) |
T136I |
possibly damaging |
Het |
| Sirt5 |
C |
T |
13: 43,525,380 (GRCm39) |
A63V |
possibly damaging |
Het |
| Skor2 |
A |
G |
18: 76,947,504 (GRCm39) |
T409A |
possibly damaging |
Het |
| Slc12a6 |
T |
C |
2: 112,164,760 (GRCm39) |
M153T |
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 24,006,348 (GRCm39) |
Y458C |
probably damaging |
Het |
| Slc36a2 |
A |
G |
11: 55,053,483 (GRCm39) |
V385A |
possibly damaging |
Het |
| St6galnac5 |
A |
T |
3: 152,552,131 (GRCm39) |
H145Q |
probably damaging |
Het |
| Tal1 |
T |
A |
4: 114,925,610 (GRCm39) |
N226K |
probably damaging |
Het |
| Tgtp2 |
G |
C |
11: 48,950,135 (GRCm39) |
R146G |
probably damaging |
Het |
| Usp6nl |
T |
C |
2: 6,445,330 (GRCm39) |
S436P |
probably benign |
Het |
| Utp3 |
A |
G |
5: 88,702,621 (GRCm39) |
E50G |
probably benign |
Het |
| Zfp12 |
A |
T |
5: 143,225,749 (GRCm39) |
Q19L |
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 |
|
|
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 |
|
|
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'- ACCCAGTAGCAGATGGATTTCC -3'
(R):5'- ATGGAGAACATGTTTGACTTGCTG -3'
Sequencing Primer
(F):5'- GGATTTCCATCCCCAGAGCTACTAG -3'
(R):5'- ACATGTTTGACTTGCTGAAAGAGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation