Incidental Mutation 'R1256:Abcb10'
| ID |
151458 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcb10
|
| Ensembl Gene |
ENSMUSG00000031974 |
| Gene Name |
ATP-binding cassette, sub-family B member 10 |
| Synonyms |
ABC-me |
| MMRRC Submission |
039323-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1256 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
124679198-124709861 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 124688791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 495
(G495D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075011
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075578]
[ENSMUST00000127664]
|
| AlphaFold |
Q9JI39 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075578
AA Change: G495D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000075011
Gene: ENSMUSG00000031974
AA Change: G495D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC_membrane
|
136 |
407 |
1.7e-60 |
PFAM |
|
AAA
|
484 |
675 |
1.68e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212188
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212250
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212356
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the ATP-binding cassette superfamily of transporters. ATP-binding cassette proteins transport various molecules across extra- and intra-cellular membranes. The encoded protein is localized to the mitochondrial inner membrane where it interacts with and stabilizes mitoferrin-1, and is important for heme biosynthesis. Additional evidence suggests the encoded protein is involved in oxidative stress protection and erythropoisesis. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice heterozygous for this allele exhibit increased response to ischemia and reperfusion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apaf1 |
A |
G |
10: 90,894,268 (GRCm39) |
Y456H |
probably benign |
Het |
| Arhgef11 |
A |
G |
3: 87,634,442 (GRCm39) |
N791S |
possibly damaging |
Het |
| Brat1 |
A |
G |
5: 140,695,962 (GRCm39) |
Q66R |
possibly damaging |
Het |
| Capn10 |
C |
T |
1: 92,874,668 (GRCm39) |
T633M |
probably damaging |
Het |
| Ccdc186 |
G |
T |
19: 56,786,053 (GRCm39) |
L661I |
probably benign |
Het |
| Cln3 |
A |
G |
7: 126,182,208 (GRCm39) |
S4P |
probably damaging |
Het |
| Cnot10 |
G |
T |
9: 114,439,749 (GRCm39) |
S520Y |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,129,978 (GRCm39) |
F1715I |
probably damaging |
Het |
| Ezh2 |
A |
T |
6: 47,518,789 (GRCm39) |
C545* |
probably null |
Het |
| Hivep1 |
C |
T |
13: 42,335,307 (GRCm39) |
S2282F |
probably damaging |
Het |
| Jag2 |
T |
C |
12: 112,878,039 (GRCm39) |
E564G |
possibly damaging |
Het |
| Kcnj16 |
A |
G |
11: 110,916,262 (GRCm39) |
H308R |
probably damaging |
Het |
| Magi3 |
C |
T |
3: 103,935,126 (GRCm39) |
V936I |
probably benign |
Het |
| Mcu |
G |
T |
10: 59,290,790 (GRCm39) |
A279E |
probably damaging |
Het |
| Msln |
A |
G |
17: 25,973,157 (GRCm39) |
C13R |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,883,883 (GRCm39) |
D714G |
probably benign |
Het |
| Nif3l1 |
T |
A |
1: 58,494,808 (GRCm39) |
V259D |
probably damaging |
Het |
| Or4c127 |
A |
T |
2: 89,832,911 (GRCm39) |
M54L |
possibly damaging |
Het |
| Or5k14 |
A |
C |
16: 58,693,206 (GRCm39) |
Y102* |
probably null |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Pcdhb9 |
A |
G |
18: 37,536,169 (GRCm39) |
D721G |
possibly damaging |
Het |
| Pepd |
A |
C |
7: 34,620,917 (GRCm39) |
T61P |
possibly damaging |
Het |
| Pkd1l2 |
C |
T |
8: 117,746,282 (GRCm39) |
|
probably null |
Het |
| Poglut3 |
A |
C |
9: 53,299,762 (GRCm39) |
R90S |
possibly damaging |
Het |
| Psip1 |
A |
G |
4: 83,392,604 (GRCm39) |
S102P |
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,809,446 (GRCm39) |
E443G |
possibly damaging |
Het |
| Rnf20 |
A |
G |
4: 49,638,230 (GRCm39) |
D114G |
probably benign |
Het |
| Schip1 |
A |
T |
3: 68,402,375 (GRCm39) |
I151F |
probably benign |
Het |
| Smarca2 |
A |
G |
19: 26,659,373 (GRCm39) |
I888V |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,802,310 (GRCm39) |
T263A |
probably damaging |
Het |
| Spn |
T |
C |
7: 126,735,445 (GRCm39) |
K354R |
possibly damaging |
Het |
| Sspo |
G |
A |
6: 48,434,573 (GRCm39) |
A1022T |
probably damaging |
Het |
| Strn |
A |
C |
17: 78,972,046 (GRCm39) |
|
probably null |
Het |
| Tstd3 |
T |
C |
4: 21,759,627 (GRCm39) |
I79M |
probably damaging |
Het |
| Txnl4a |
A |
G |
18: 80,250,487 (GRCm39) |
I28V |
probably benign |
Het |
| Uty |
T |
C |
Y: 1,134,884 (GRCm39) |
D928G |
probably damaging |
Het |
| Vps26c |
A |
G |
16: 94,313,225 (GRCm39) |
L22P |
probably damaging |
Het |
| Vsx2 |
T |
A |
12: 84,623,085 (GRCm39) |
L163Q |
probably damaging |
Het |
|
| Other mutations in Abcb10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02219:Abcb10
|
APN |
8 |
124,681,166 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02279:Abcb10
|
APN |
8 |
124,681,100 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02302:Abcb10
|
APN |
8 |
124,685,411 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02342:Abcb10
|
APN |
8 |
124,688,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03062:Abcb10
|
APN |
8 |
124,681,054 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL03409:Abcb10
|
APN |
8 |
124,691,762 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0320:Abcb10
|
UTSW |
8 |
124,689,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0436:Abcb10
|
UTSW |
8 |
124,697,740 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1074:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1224:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1225:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1226:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1251:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1252:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1254:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1255:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1355:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1370:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1424:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1499:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1769:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2096:Abcb10
|
UTSW |
8 |
124,709,195 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2125:Abcb10
|
UTSW |
8 |
124,691,831 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2274:Abcb10
|
UTSW |
8 |
124,709,491 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4801:Abcb10
|
UTSW |
8 |
124,693,266 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4802:Abcb10
|
UTSW |
8 |
124,693,266 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4850:Abcb10
|
UTSW |
8 |
124,709,429 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5320:Abcb10
|
UTSW |
8 |
124,697,763 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5947:Abcb10
|
UTSW |
8 |
124,694,737 (GRCm39) |
splice site |
probably null |
|
|
R6006:Abcb10
|
UTSW |
8 |
124,694,804 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6328:Abcb10
|
UTSW |
8 |
124,688,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7168:Abcb10
|
UTSW |
8 |
124,693,350 (GRCm39) |
missense |
|
|
|
R8130:Abcb10
|
UTSW |
8 |
124,691,757 (GRCm39) |
missense |
|
|
|
R8131:Abcb10
|
UTSW |
8 |
124,691,757 (GRCm39) |
missense |
|
|
|
R8132:Abcb10
|
UTSW |
8 |
124,691,757 (GRCm39) |
missense |
|
|
|
R8431:Abcb10
|
UTSW |
8 |
124,694,873 (GRCm39) |
missense |
|
|
|
R9111:Abcb10
|
UTSW |
8 |
124,696,646 (GRCm39) |
missense |
|
|
|
R9258:Abcb10
|
UTSW |
8 |
124,709,347 (GRCm39) |
missense |
probably benign |
|
|
R9423:Abcb10
|
UTSW |
8 |
124,688,819 (GRCm39) |
missense |
|
|
|
V7581:Abcb10
|
UTSW |
8 |
124,696,500 (GRCm39) |
intron |
probably benign |
|
|
Z1176:Abcb10
|
UTSW |
8 |
124,709,402 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCACATGTCAGCAGAGTTCCAG -3'
(R):5'- ACTTCAGTCAGGCAAGGGAGACAC -3'
Sequencing Primer
(F):5'- CTGACCCATTTCCAAGGGTAG -3'
(R):5'- GGCATTCTGCCCTGAGC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation