Incidental Mutation 'R7982:Abcb6'
| ID |
651245 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcb6
|
| Ensembl Gene |
ENSMUSG00000026198 |
| Gene Name |
ATP-binding cassette, sub-family B member 6 |
| Synonyms |
1200005B17Rik |
| MMRRC Submission |
046023-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.308)
|
| Stock # |
R7982 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
75148361-75157036 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75150284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 625
(S625P)
|
| 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 damaging
Transcript: ENSMUST00000027396
AA Change: S625P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027396
Gene: ENSMUSG00000026198
AA Change: S625P
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
A |
G |
5: 137,561,424 (GRCm39) |
N142S |
probably benign |
Het |
| Ank1 |
A |
T |
8: 23,609,397 (GRCm39) |
D1363V |
probably damaging |
Het |
| Aox4 |
A |
C |
1: 58,296,400 (GRCm39) |
L1032F |
possibly damaging |
Het |
| Atosb |
T |
C |
4: 43,034,483 (GRCm39) |
T371A |
probably damaging |
Het |
| Bcl2l15 |
T |
C |
3: 103,740,158 (GRCm39) |
M4T |
probably damaging |
Het |
| Cand1 |
A |
T |
10: 119,052,378 (GRCm39) |
S242R |
probably damaging |
Het |
| Cant1 |
A |
T |
11: 118,300,968 (GRCm39) |
V229D |
probably benign |
Het |
| Ccdc117 |
A |
G |
11: 5,481,460 (GRCm39) |
S224P |
possibly damaging |
Het |
| Cdc42ep4 |
T |
C |
11: 113,619,402 (GRCm39) |
R330G |
possibly damaging |
Het |
| Cep164 |
T |
C |
9: 45,690,162 (GRCm39) |
E527G |
probably benign |
Het |
| Cfap58 |
A |
G |
19: 47,963,006 (GRCm39) |
D472G |
probably benign |
Het |
| Cln6 |
A |
C |
9: 62,756,450 (GRCm39) |
K198T |
possibly damaging |
Het |
| Col4a4 |
G |
A |
1: 82,549,162 (GRCm39) |
|
probably benign |
Het |
| Cyp1b1 |
T |
C |
17: 80,017,919 (GRCm39) |
Y412C |
probably damaging |
Het |
| Dhx30 |
A |
T |
9: 109,914,524 (GRCm39) |
L991Q |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,221,621 (GRCm39) |
T2475I |
possibly damaging |
Het |
| Exoc8 |
A |
T |
8: 125,623,149 (GRCm39) |
V406E |
probably damaging |
Het |
| Grk6 |
T |
A |
13: 55,599,519 (GRCm39) |
C201S |
probably damaging |
Het |
| Helz |
T |
C |
11: 107,517,456 (GRCm39) |
V664A |
possibly damaging |
Het |
| Hsd17b11 |
A |
G |
5: 104,151,090 (GRCm39) |
C215R |
possibly damaging |
Het |
| Ift25 |
T |
C |
4: 107,132,480 (GRCm39) |
V89A |
probably benign |
Het |
| Kbtbd12 |
T |
C |
6: 88,595,616 (GRCm39) |
I71M |
possibly damaging |
Het |
| Khdc1a |
A |
T |
1: 21,421,130 (GRCm39) |
H105L |
probably benign |
Het |
| Klf6 |
T |
A |
13: 5,911,822 (GRCm39) |
L62Q |
probably damaging |
Het |
| Mc1r |
A |
G |
8: 124,134,879 (GRCm39) |
R211G |
probably damaging |
Het |
| Nt5m |
T |
A |
11: 59,739,157 (GRCm39) |
W68R |
possibly damaging |
Het |
| Nufip1 |
T |
C |
14: 76,363,679 (GRCm39) |
V301A |
probably benign |
Het |
| Or10ac1 |
T |
A |
6: 42,515,225 (GRCm39) |
T244S |
probably damaging |
Het |
| Or12d14-ps1 |
T |
G |
17: 37,673,502 (GRCm39) |
F165V |
probably damaging |
Het |
| Or2b7 |
T |
C |
13: 21,740,136 (GRCm39) |
N19D |
probably benign |
Het |
| Or51f5 |
A |
T |
7: 102,424,310 (GRCm39) |
D193V |
probably damaging |
Het |
| Or5ac25 |
A |
G |
16: 59,181,927 (GRCm39) |
I218T |
probably benign |
Het |
| Ostn |
T |
C |
16: 27,140,189 (GRCm39) |
|
probably null |
Het |
| Pcdhb6 |
C |
T |
18: 37,467,273 (GRCm39) |
R65* |
probably null |
Het |
| Pds5b |
T |
C |
5: 150,693,406 (GRCm39) |
I706T |
probably damaging |
Het |
| Pgm2 |
T |
G |
5: 64,258,302 (GRCm39) |
Y96D |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,777,926 (GRCm39) |
T875I |
possibly damaging |
Het |
| Poc1b |
A |
G |
10: 99,000,764 (GRCm39) |
S355G |
probably benign |
Het |
| Ppp6r1 |
A |
C |
7: 4,646,157 (GRCm39) |
D181E |
probably benign |
Het |
| Pstpip2 |
G |
A |
18: 77,967,073 (GRCm39) |
V325M |
probably benign |
Het |
| Rras2 |
A |
T |
7: 113,658,186 (GRCm39) |
V92D |
probably damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
GTCTTCTTCTTCTTCTTC |
GTCTTCTTCTTCTTC |
2: 112,499,594 (GRCm39) |
|
probably benign |
Het |
| Stac2 |
T |
A |
11: 97,933,379 (GRCm39) |
M188L |
probably benign |
Het |
| Synrg |
G |
A |
11: 83,910,644 (GRCm39) |
D859N |
probably damaging |
Het |
| Tarbp1 |
A |
T |
8: 127,171,040 (GRCm39) |
S987T |
probably damaging |
Het |
| Tbx20 |
C |
A |
9: 24,685,220 (GRCm39) |
|
probably benign |
Het |
| Trim30d |
G |
T |
7: 104,121,817 (GRCm39) |
N309K |
possibly damaging |
Het |
| Ttc16 |
C |
T |
2: 32,665,047 (GRCm39) |
|
probably benign |
Het |
| Ttc34 |
T |
A |
4: 154,945,875 (GRCm39) |
I303N |
possibly damaging |
Het |
| Ubr4 |
T |
C |
4: 139,155,519 (GRCm39) |
|
probably null |
Het |
| Uros |
A |
T |
7: 133,294,278 (GRCm39) |
S168T |
unknown |
Het |
| Vmn2r6 |
C |
T |
3: 64,467,241 (GRCm39) |
G86D |
probably damaging |
Het |
| Ybx2 |
C |
T |
11: 69,831,448 (GRCm39) |
T295I |
possibly damaging |
Het |
| Zbed5 |
T |
A |
5: 129,929,321 (GRCm39) |
C146S |
possibly damaging |
Het |
| Zcchc2 |
G |
A |
1: 105,958,901 (GRCm39) |
C1124Y |
probably damaging |
Het |
| Zfp626 |
G |
A |
7: 27,510,175 (GRCm39) |
|
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 |
|
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 |
|
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'- TTGCAAGGCTGGTGTCTCAG -3'
(R):5'- AGAGAAATACTAGCTACGTGGCC -3'
Sequencing Primer
(F):5'- CTGGTGTCTCAGGGGTGCC -3'
(R):5'- AGCTACGTGGCCCACATTC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation