Incidental Mutation 'R2078:Abcb6'
| ID |
229251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcb6
|
| Ensembl Gene |
ENSMUSG00000026198 |
| Gene Name |
ATP-binding cassette, sub-family B member 6 |
| Synonyms |
1200005B17Rik |
| MMRRC Submission |
040083-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.308)
|
| Stock # |
R2078 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
75148361-75157036 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 75148780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 55
(G55C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124630
(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 damaging
Transcript: ENSMUST00000027396
AA Change: G800C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027396
Gene: ENSMUSG00000026198
AA Change: G800C
| 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 damaging
Transcript: ENSMUST00000161215
AA Change: G55C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124630
Gene: ENSMUSG00000026198
AA Change: G55C
| 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 |
noncoding transcript
Transcript: ENSMUST00000160903
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161106
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161657
|
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
T |
C |
10: 106,802,902 (GRCm39) |
T448A |
possibly damaging |
Het |
| Atxn7 |
A |
G |
14: 14,052,975 (GRCm38) |
N138D |
probably damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,315,077 (GRCm39) |
D869V |
probably benign |
Het |
| Cps1 |
T |
G |
1: 67,196,965 (GRCm39) |
Y339D |
probably damaging |
Het |
| Cps1 |
T |
C |
1: 67,234,424 (GRCm39) |
I937T |
possibly damaging |
Het |
| Dlgap4 |
T |
C |
2: 156,604,746 (GRCm39) |
S261P |
probably damaging |
Het |
| Dusp6 |
T |
C |
10: 99,099,686 (GRCm39) |
Y45H |
probably damaging |
Het |
| Ebag9 |
A |
G |
15: 44,500,200 (GRCm39) |
N157S |
probably damaging |
Het |
| Exoc4 |
A |
G |
6: 33,887,522 (GRCm39) |
D770G |
probably benign |
Het |
| Ezr |
A |
G |
17: 7,050,041 (GRCm39) |
M1T |
probably null |
Het |
| Fat4 |
A |
G |
3: 38,943,822 (GRCm39) |
N905S |
probably damaging |
Het |
| Fcrlb |
C |
G |
1: 170,735,650 (GRCm39) |
R208P |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,927,466 (GRCm38) |
V1892A |
probably damaging |
Het |
| Gas2 |
G |
A |
7: 51,547,073 (GRCm39) |
V75M |
probably benign |
Het |
| Gda |
T |
A |
19: 21,378,036 (GRCm39) |
D267V |
probably damaging |
Het |
| Gper1 |
A |
T |
5: 139,411,888 (GRCm39) |
I78F |
probably benign |
Het |
| Hectd1 |
A |
C |
12: 51,795,325 (GRCm39) |
I2368S |
probably damaging |
Het |
| Katna1 |
C |
T |
10: 7,619,333 (GRCm39) |
P114S |
probably benign |
Het |
| Lce3c |
G |
A |
3: 92,852,758 (GRCm39) |
S73N |
unknown |
Het |
| Lrfn3 |
A |
T |
7: 30,059,879 (GRCm39) |
D115E |
possibly damaging |
Het |
| Lrrc47 |
C |
A |
4: 154,103,888 (GRCm39) |
T505K |
probably damaging |
Het |
| Mertk |
C |
T |
2: 128,636,378 (GRCm39) |
T784I |
probably damaging |
Het |
| Mettl21e |
T |
A |
1: 44,245,662 (GRCm39) |
I195F |
possibly damaging |
Het |
| Mff |
T |
C |
1: 82,719,642 (GRCm39) |
S207P |
probably damaging |
Het |
| Mtmr6 |
A |
G |
14: 60,529,436 (GRCm39) |
|
probably null |
Het |
| Myh9 |
T |
C |
15: 77,648,112 (GRCm39) |
K1788R |
probably benign |
Het |
| Narf |
A |
G |
11: 121,136,220 (GRCm39) |
T199A |
probably benign |
Het |
| Neurod6 |
A |
G |
6: 55,655,954 (GRCm39) |
S228P |
probably benign |
Het |
| Notch4 |
A |
T |
17: 34,787,689 (GRCm39) |
|
probably null |
Het |
| Nyap2 |
T |
C |
1: 81,169,696 (GRCm39) |
L151P |
probably damaging |
Het |
| Or5b21 |
T |
A |
19: 12,839,751 (GRCm39) |
V204E |
probably benign |
Het |
| P2ry1 |
A |
G |
3: 60,911,118 (GRCm39) |
I86V |
probably damaging |
Het |
| Pafah1b2 |
G |
T |
9: 45,880,127 (GRCm39) |
D183E |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,619,276 (GRCm39) |
E179G |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,250,791 (GRCm39) |
E436G |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,391,163 (GRCm39) |
I1514V |
probably benign |
Het |
| Plch1 |
A |
G |
3: 63,609,364 (GRCm39) |
S948P |
probably benign |
Het |
| Rfc5 |
A |
G |
5: 117,518,868 (GRCm39) |
V296A |
probably benign |
Het |
| Rnf150 |
A |
T |
8: 83,730,234 (GRCm39) |
I255F |
probably damaging |
Het |
| Rsbn1 |
A |
G |
3: 103,868,839 (GRCm39) |
D626G |
probably damaging |
Het |
| Sfswap |
A |
G |
5: 129,593,171 (GRCm39) |
D346G |
possibly damaging |
Het |
| Slc38a11 |
A |
T |
2: 65,160,728 (GRCm39) |
F289I |
possibly damaging |
Het |
| Terf2ip |
A |
G |
8: 112,742,035 (GRCm39) |
N243S |
probably benign |
Het |
| Tmed5 |
A |
T |
5: 108,272,471 (GRCm39) |
V209E |
probably damaging |
Het |
| Tmem63b |
A |
G |
17: 45,974,462 (GRCm39) |
S603P |
possibly damaging |
Het |
| Tomm20 |
T |
C |
8: 127,663,822 (GRCm39) |
M121V |
possibly damaging |
Het |
| Tspan33 |
G |
A |
6: 29,709,970 (GRCm39) |
V45I |
probably benign |
Het |
| Usp17la |
A |
T |
7: 104,508,600 (GRCm39) |
M1L |
probably benign |
Het |
| Vsig8 |
C |
A |
1: 172,390,856 (GRCm39) |
D301E |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,145,597 (GRCm39) |
H91Q |
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 |
|
|
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'- GCCACATCTCGGCATAAACG -3'
(R):5'- ATACATCTAATGAGAGAGCCATCC -3'
Sequencing Primer
(F):5'- GCATAAACGCCACCTCGGG -3'
(R):5'- CCTCTCTGGCCAAAGTCTG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation