Incidental Mutation 'R6275:Abcb6'
ID |
529381 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcb6
|
Ensembl Gene |
ENSMUSG00000026198 |
Gene Name |
ATP-binding cassette, sub-family B member 6 |
Synonyms |
1200005B17Rik |
MMRRC Submission |
044445-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.308)
|
Stock # |
R6275 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
75148361-75157036 bp(-) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
T to C
at 75149195 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 |
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000160757
|
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 |
noncoding transcript
Transcript: ENSMUST00000161657
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160903
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161106
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185727
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186227
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.4%
|
Validation Efficiency |
98% (56/57) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
A |
10: 79,833,625 (GRCm39) |
L30H |
probably damaging |
Het |
Acsbg1 |
T |
A |
9: 54,517,056 (GRCm39) |
M586L |
probably benign |
Het |
Ano6 |
A |
T |
15: 95,811,314 (GRCm39) |
Y159F |
probably damaging |
Het |
C1ql1 |
A |
G |
11: 102,830,575 (GRCm39) |
I254T |
probably damaging |
Het |
Ccdc81 |
T |
C |
7: 89,531,519 (GRCm39) |
D318G |
possibly damaging |
Het |
Ccr7 |
C |
T |
11: 99,036,489 (GRCm39) |
M144I |
probably damaging |
Het |
Cdca3 |
C |
T |
6: 124,809,627 (GRCm39) |
|
probably null |
Het |
Ces1h |
A |
T |
8: 94,099,274 (GRCm39) |
L93I |
probably benign |
Het |
Cntfr |
T |
C |
4: 41,663,216 (GRCm39) |
D197G |
possibly damaging |
Het |
Cyp2d12 |
C |
A |
15: 82,440,859 (GRCm39) |
P126T |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,862,248 (GRCm39) |
T2225A |
probably damaging |
Het |
Edrf1 |
A |
T |
7: 133,269,311 (GRCm39) |
N1147Y |
possibly damaging |
Het |
Eif1ad15 |
T |
C |
12: 88,287,995 (GRCm39) |
D86G |
possibly damaging |
Het |
Eif1ad16 |
T |
C |
12: 87,985,255 (GRCm39) |
N96S |
probably benign |
Het |
Ermap |
C |
T |
4: 119,035,747 (GRCm39) |
V414M |
probably damaging |
Het |
Fam13a |
A |
G |
6: 58,931,242 (GRCm39) |
I446T |
probably damaging |
Het |
Fgfbp3 |
T |
C |
19: 36,896,153 (GRCm39) |
H155R |
possibly damaging |
Het |
Folr1 |
T |
A |
7: 101,508,742 (GRCm39) |
N61I |
probably damaging |
Het |
Fsip1 |
T |
C |
2: 118,035,583 (GRCm39) |
I431V |
probably benign |
Het |
Gm5493 |
A |
T |
17: 22,969,043 (GRCm39) |
E74D |
probably benign |
Het |
H2-Oa |
A |
G |
17: 34,313,540 (GRCm39) |
D197G |
probably benign |
Het |
Hps1 |
T |
C |
19: 42,758,046 (GRCm39) |
E169G |
probably null |
Het |
Il17rc |
A |
T |
6: 113,457,308 (GRCm39) |
M372L |
probably benign |
Het |
Itga10 |
A |
G |
3: 96,565,501 (GRCm39) |
S1042G |
probably benign |
Het |
Jchain |
A |
T |
5: 88,669,212 (GRCm39) |
V147E |
probably damaging |
Het |
Laptm4b |
A |
G |
15: 34,283,473 (GRCm39) |
T211A |
probably benign |
Het |
Mal2 |
T |
C |
15: 54,435,035 (GRCm39) |
|
probably null |
Het |
Mov10l1 |
T |
A |
15: 88,910,823 (GRCm39) |
I1071N |
probably damaging |
Het |
Mpp2 |
T |
A |
11: 101,951,795 (GRCm39) |
Y401F |
probably damaging |
Het |
Myh15 |
A |
G |
16: 48,965,610 (GRCm39) |
T1172A |
probably benign |
Het |
Or51q1 |
T |
A |
7: 103,629,181 (GRCm39) |
S261T |
probably damaging |
Het |
Pcnx1 |
G |
T |
12: 81,965,381 (GRCm39) |
S516I |
probably benign |
Het |
Pidd1 |
C |
T |
7: 141,019,708 (GRCm39) |
A685T |
probably damaging |
Het |
Psg28 |
A |
C |
7: 18,164,365 (GRCm39) |
Y116D |
probably damaging |
Het |
Psmd11 |
T |
C |
11: 80,329,458 (GRCm39) |
|
probably benign |
Het |
Rapgefl1 |
T |
A |
11: 98,741,946 (GRCm39) |
Y637N |
probably damaging |
Het |
Rbm25 |
T |
A |
12: 83,691,206 (GRCm39) |
M66K |
probably damaging |
Het |
Rnf38 |
T |
A |
4: 44,152,408 (GRCm39) |
H52L |
probably benign |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGTGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
Sec62 |
A |
G |
3: 30,863,985 (GRCm39) |
Q89R |
probably damaging |
Het |
Serpina6 |
T |
A |
12: 103,614,979 (GRCm39) |
Q289L |
probably benign |
Het |
Sf3b2 |
A |
C |
19: 5,333,678 (GRCm39) |
I640S |
probably damaging |
Het |
Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
Slc26a11 |
T |
C |
11: 119,250,125 (GRCm39) |
F127L |
probably benign |
Het |
Spata31h1 |
T |
C |
10: 82,121,202 (GRCm39) |
D3936G |
probably damaging |
Het |
Stac3 |
T |
A |
10: 127,343,615 (GRCm39) |
Y252* |
probably null |
Het |
Stoml3 |
G |
A |
3: 53,414,927 (GRCm39) |
A240T |
probably damaging |
Het |
Tanc1 |
A |
T |
2: 59,673,854 (GRCm39) |
H1653L |
probably benign |
Het |
Tll1 |
A |
T |
8: 64,504,401 (GRCm39) |
L665* |
probably null |
Het |
Tnr |
A |
C |
1: 159,688,840 (GRCm39) |
Q434P |
probably damaging |
Het |
Tpgs1 |
C |
A |
10: 79,511,354 (GRCm39) |
D165E |
probably benign |
Het |
Tsc2 |
A |
G |
17: 24,819,394 (GRCm39) |
V1185A |
probably benign |
Het |
Tulp4 |
A |
G |
17: 6,249,011 (GRCm39) |
H203R |
probably damaging |
Het |
Txnl4a |
T |
A |
18: 80,261,980 (GRCm39) |
M72K |
possibly damaging |
Het |
Usp42 |
G |
A |
5: 143,700,727 (GRCm39) |
R1099W |
probably damaging |
Het |
Zfp292 |
G |
A |
4: 34,808,883 (GRCm39) |
A1387V |
possibly damaging |
Het |
Zfp994 |
A |
T |
17: 22,418,972 (GRCm39) |
L659* |
probably null |
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 |
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'- GAAAGAGCTTTGGTGAGATGCTC -3'
(R):5'- ACCCAGTGATACCCTGTCAC -3'
Sequencing Primer
(F):5'- AGATGCTCTTGGTACCCAGAG -3'
(R):5'- GTGATACCCTGTCACTCTCAAATTC -3'
|
Posted On |
2018-08-01 |