Incidental Mutation 'R7608:Abcb6'
| ID |
588410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcb6
|
| Ensembl Gene |
ENSMUSG00000026198 |
| Gene Name |
ATP-binding cassette, sub-family B member 6 |
| Synonyms |
1200005B17Rik |
| MMRRC Submission |
045678-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.308)
|
| Stock # |
R7608 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75148361-75157036 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75154347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 311
(F311S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027396
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027396]
[ENSMUST00000040689]
[ENSMUST00000161215]
[ENSMUST00000188347]
[ENSMUST00000189665]
[ENSMUST00000189702]
|
| AlphaFold |
Q9DC29 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027396
AA Change: F311S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000027396
Gene: ENSMUSG00000026198
AA Change: F311S
| 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 |
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: 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: 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 |
|
| 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: ENSMUST00000189820
|
| Meta Mutation Damage Score |
0.3579 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (51/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
C |
A |
9: 90,055,826 (GRCm39) |
T193N |
possibly damaging |
Het |
| Akr1b7 |
A |
G |
6: 34,397,457 (GRCm39) |
N273S |
probably damaging |
Het |
| Asz1 |
G |
A |
6: 18,077,252 (GRCm39) |
T151M |
probably damaging |
Het |
| Atosb |
A |
G |
4: 43,036,533 (GRCm39) |
L66P |
probably damaging |
Het |
| Atrnl1 |
T |
A |
19: 57,703,119 (GRCm39) |
Y1046N |
probably damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,564,022 (GRCm39) |
S902P |
probably damaging |
Het |
| Casp3 |
T |
A |
8: 47,087,368 (GRCm39) |
I105K |
probably benign |
Het |
| Ccdc146 |
C |
T |
5: 21,506,450 (GRCm39) |
V664I |
probably benign |
Het |
| Cfap61 |
G |
A |
2: 145,805,451 (GRCm39) |
C267Y |
possibly damaging |
Het |
| Dgkz |
A |
T |
2: 91,764,399 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
G |
T |
12: 118,104,505 (GRCm39) |
|
probably null |
Het |
| Duox1 |
C |
A |
2: 122,156,616 (GRCm39) |
Y514* |
probably null |
Het |
| Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
| Fan1 |
A |
T |
7: 64,003,979 (GRCm39) |
|
probably null |
Het |
| Fgfrl1 |
A |
T |
5: 108,853,211 (GRCm39) |
K278M |
probably damaging |
Het |
| Fign |
T |
C |
2: 63,809,063 (GRCm39) |
I736V |
possibly damaging |
Het |
| Galns |
A |
G |
8: 123,318,184 (GRCm39) |
F410S |
probably benign |
Het |
| Hspbp1 |
C |
A |
7: 4,663,821 (GRCm39) |
K341N |
possibly damaging |
Het |
| Idh3b |
A |
T |
2: 130,122,900 (GRCm39) |
S296R |
probably damaging |
Het |
| Ifi44 |
A |
G |
3: 151,438,045 (GRCm39) |
F414S |
probably damaging |
Het |
| Kdm3a |
T |
A |
6: 71,577,731 (GRCm39) |
M690L |
probably benign |
Het |
| Ldaf1 |
A |
G |
7: 119,704,011 (GRCm39) |
K19E |
probably damaging |
Het |
| Lrrc49 |
C |
T |
9: 60,510,005 (GRCm39) |
G488S |
probably null |
Het |
| Mcc |
T |
C |
18: 44,624,294 (GRCm39) |
N417S |
possibly damaging |
Het |
| Melk |
T |
A |
4: 44,325,571 (GRCm39) |
|
probably null |
Het |
| Mtcl1 |
T |
C |
17: 66,650,300 (GRCm39) |
R1722G |
probably damaging |
Het |
| Or4a79 |
A |
G |
2: 89,551,642 (GRCm39) |
V271A |
probably benign |
Het |
| Or51f23c-ps1 |
A |
G |
7: 102,431,132 (GRCm39) |
I150V |
probably benign |
Het |
| Or5b119 |
G |
A |
19: 13,456,956 (GRCm39) |
T202I |
possibly damaging |
Het |
| Or8d2 |
T |
A |
9: 38,759,806 (GRCm39) |
V132D |
possibly damaging |
Het |
| Pdzrn3 |
T |
C |
6: 101,128,713 (GRCm39) |
E651G |
probably damaging |
Het |
| Pop5 |
A |
G |
5: 115,375,931 (GRCm39) |
|
probably benign |
Het |
| Prox1 |
T |
A |
1: 189,885,642 (GRCm39) |
M602L |
probably benign |
Het |
| Prpf39 |
G |
A |
12: 65,100,220 (GRCm39) |
A298T |
probably benign |
Het |
| Scg2 |
T |
C |
1: 79,413,898 (GRCm39) |
E275G |
probably benign |
Het |
| Scn11a |
A |
T |
9: 119,644,379 (GRCm39) |
|
probably null |
Het |
| Slc16a4 |
A |
T |
3: 107,210,443 (GRCm39) |
Y371F |
probably damaging |
Het |
| Slc4a1ap |
T |
A |
5: 31,693,533 (GRCm39) |
M489K |
possibly damaging |
Het |
| Spata13 |
A |
G |
14: 60,929,956 (GRCm39) |
N505D |
possibly damaging |
Het |
| Tas2r129 |
A |
G |
6: 132,928,156 (GRCm39) |
N31S |
probably damaging |
Het |
| Tnn |
A |
T |
1: 159,915,984 (GRCm39) |
Y1508* |
probably null |
Het |
| Trim23 |
T |
C |
13: 104,328,541 (GRCm39) |
V354A |
probably benign |
Het |
| Tsc1 |
A |
T |
2: 28,548,748 (GRCm39) |
T18S |
probably benign |
Het |
| Txlnb |
A |
G |
10: 17,691,146 (GRCm39) |
K232R |
probably damaging |
Het |
| Vmn1r53 |
C |
T |
6: 90,201,104 (GRCm39) |
M73I |
probably benign |
Het |
| Vmn1r67 |
G |
A |
7: 10,181,290 (GRCm39) |
V185M |
possibly damaging |
Het |
| Vmn2r14 |
A |
G |
5: 109,369,276 (GRCm39) |
I99T |
probably benign |
Het |
| Zfp318 |
T |
G |
17: 46,710,935 (GRCm39) |
V886G |
probably damaging |
Het |
| Zfp760 |
A |
G |
17: 21,941,797 (GRCm39) |
N324S |
probably benign |
Het |
| Zfp819 |
T |
C |
7: 43,266,357 (GRCm39) |
V280A |
probably benign |
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 |
|
|
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 |
|
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'- GTTGCTCACAAAACCTGGGG -3'
(R):5'- CACTCAATGTGTTGGTCCCC -3'
Sequencing Primer
(F):5'- TCACAAAACCTGGGGAAGCC -3'
(R):5'- CCCATCTTCTATAGGGACATTGGTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation