Incidental Mutation 'IGL02342:Abcb10'
| ID |
289141 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Abcb10
|
| Ensembl Gene |
ENSMUSG00000031974 |
| Gene Name |
ATP-binding cassette, sub-family B member 10 |
| Synonyms |
ABC-me |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02342
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
124679198-124709861 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 124688773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 501
(V501E)
|
| 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: V501E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075011
Gene: ENSMUSG00000031974
AA Change: V501E
| 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 |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030612E09Rik |
C |
A |
10: 43,050,997 (GRCm39) |
P97Q |
probably damaging |
Het |
| Acsf3 |
T |
C |
8: 123,544,237 (GRCm39) |
Y572H |
probably benign |
Het |
| Adamts3 |
A |
T |
5: 89,839,332 (GRCm39) |
|
probably null |
Het |
| Alox8 |
A |
G |
11: 69,077,053 (GRCm39) |
L480P |
probably damaging |
Het |
| Arhgap35 |
G |
A |
7: 16,296,305 (GRCm39) |
T920I |
probably benign |
Het |
| Brca2 |
C |
A |
5: 150,466,289 (GRCm39) |
L2018M |
possibly damaging |
Het |
| Brdt |
C |
A |
5: 107,490,069 (GRCm39) |
H45N |
probably damaging |
Het |
| C1s2 |
A |
G |
6: 124,609,075 (GRCm39) |
F155L |
probably damaging |
Het |
| Ccser2 |
A |
G |
14: 36,640,562 (GRCm39) |
|
probably benign |
Het |
| Cd8a |
T |
A |
6: 71,350,723 (GRCm39) |
C63S |
probably damaging |
Het |
| Clk2 |
A |
T |
3: 89,082,998 (GRCm39) |
T424S |
probably benign |
Het |
| Cntn1 |
A |
G |
15: 92,143,898 (GRCm39) |
E287G |
probably benign |
Het |
| Cobl |
A |
C |
11: 12,203,672 (GRCm39) |
V928G |
possibly damaging |
Het |
| Col12a1 |
A |
G |
9: 79,557,178 (GRCm39) |
|
probably null |
Het |
| Crnkl1 |
A |
T |
2: 145,766,633 (GRCm39) |
|
probably null |
Het |
| Defb26 |
T |
C |
2: 152,350,121 (GRCm39) |
N53S |
possibly damaging |
Het |
| Duox1 |
A |
T |
2: 122,177,793 (GRCm39) |
T1526S |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,142,246 (GRCm39) |
L1233P |
probably damaging |
Het |
| Eif5a2 |
A |
G |
3: 28,847,910 (GRCm39) |
E116G |
possibly damaging |
Het |
| Garin1b |
A |
G |
6: 29,323,829 (GRCm39) |
T185A |
possibly damaging |
Het |
| Gdap2 |
G |
A |
3: 100,085,632 (GRCm39) |
A185T |
probably damaging |
Het |
| Grm8 |
T |
C |
6: 27,363,803 (GRCm39) |
R571G |
probably benign |
Het |
| Hjv |
G |
A |
3: 96,435,488 (GRCm39) |
D249N |
possibly damaging |
Het |
| Hsp90b1 |
T |
C |
10: 86,531,603 (GRCm39) |
|
probably null |
Het |
| Ift70a1 |
G |
T |
2: 75,810,976 (GRCm39) |
T369K |
probably benign |
Het |
| Ighv1-75 |
T |
G |
12: 115,797,878 (GRCm39) |
|
probably benign |
Het |
| Ikzf1 |
A |
G |
11: 11,650,216 (GRCm39) |
|
probably benign |
Het |
| Itprid2 |
A |
G |
2: 79,490,629 (GRCm39) |
N943S |
probably benign |
Het |
| Kdm4d |
A |
G |
9: 14,374,860 (GRCm39) |
W333R |
probably damaging |
Het |
| Lama3 |
A |
T |
18: 12,624,533 (GRCm39) |
N1426I |
probably damaging |
Het |
| Lmbrd1 |
A |
G |
1: 24,743,959 (GRCm39) |
Y119C |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 77,172,976 (GRCm39) |
Y884C |
probably damaging |
Het |
| Naip6 |
G |
T |
13: 100,439,748 (GRCm39) |
P340T |
possibly damaging |
Het |
| Nfkbib |
G |
T |
7: 28,461,528 (GRCm39) |
H70N |
probably damaging |
Het |
| Nol4 |
A |
T |
18: 22,903,926 (GRCm39) |
|
probably benign |
Het |
| Obscn |
C |
T |
11: 58,891,914 (GRCm39) |
A6873T |
probably benign |
Het |
| Or2ag1 |
A |
G |
7: 106,313,232 (GRCm39) |
S219P |
probably benign |
Het |
| Or51b4 |
T |
A |
7: 103,530,587 (GRCm39) |
I288F |
probably benign |
Het |
| Or6x1 |
T |
A |
9: 40,098,823 (GRCm39) |
N137K |
probably benign |
Het |
| Paqr6 |
A |
G |
3: 88,273,491 (GRCm39) |
Y136C |
probably damaging |
Het |
| Pcdh18 |
T |
A |
3: 49,710,493 (GRCm39) |
D274V |
probably damaging |
Het |
| Phip |
A |
G |
9: 82,768,745 (GRCm39) |
Y1196H |
probably damaging |
Het |
| Prc1 |
T |
C |
7: 79,959,190 (GRCm39) |
L345S |
probably damaging |
Het |
| Smpdl3a |
A |
G |
10: 57,685,276 (GRCm39) |
|
probably benign |
Het |
| Tac1 |
G |
T |
6: 7,559,119 (GRCm39) |
|
probably null |
Het |
| Tasor |
T |
A |
14: 27,198,624 (GRCm39) |
S1319T |
possibly damaging |
Het |
| Tg |
A |
G |
15: 66,636,140 (GRCm39) |
T576A |
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,896,578 (GRCm39) |
D770E |
probably damaging |
Het |
| Tmem117 |
T |
C |
15: 94,909,331 (GRCm39) |
V248A |
possibly damaging |
Het |
| Trpm8 |
T |
C |
1: 88,255,972 (GRCm39) |
I209T |
possibly damaging |
Het |
| Wrap53 |
A |
G |
11: 69,454,417 (GRCm39) |
F244L |
probably damaging |
Het |
| Wrap73 |
A |
T |
4: 154,233,237 (GRCm39) |
Q137L |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,467,434 (GRCm39) |
T2531S |
probably benign |
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 |
|
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 |
|
R1256: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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation