Incidental Mutation 'R9423:Abcb10'
| ID |
712439 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9423 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
124679198-124709861 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124688819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 486
(S486P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075011
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075578]
[ENSMUST00000127664]
|
| AlphaFold |
Q9JI39 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000075011
Gene: ENSMUSG00000031974
AA Change: S486P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (23/23) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
G |
11: 119,901,520 (GRCm39) |
S959P |
probably damaging |
Het |
| Abca13 |
T |
C |
11: 9,240,395 (GRCm39) |
S753P |
probably damaging |
Het |
| Adamts19 |
G |
T |
18: 59,023,427 (GRCm39) |
R274L |
possibly damaging |
Het |
| Ahcyl1 |
C |
T |
3: 107,578,476 (GRCm39) |
E254K |
probably damaging |
Het |
| Ccdc177 |
T |
G |
12: 80,804,162 (GRCm39) |
D704A |
unknown |
Het |
| Cd200r3 |
T |
C |
16: 44,771,895 (GRCm39) |
V53A |
probably benign |
Het |
| Cdc42bpg |
T |
C |
19: 6,363,329 (GRCm39) |
L429P |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,148,387 (GRCm39) |
D2660G |
probably damaging |
Het |
| Cfap61 |
G |
T |
2: 145,985,155 (GRCm39) |
A1000S |
probably damaging |
Het |
| Col28a1 |
T |
C |
6: 7,999,601 (GRCm39) |
T1039A |
probably benign |
Het |
| Ctsd |
A |
G |
7: 141,939,212 (GRCm39) |
L71P |
probably damaging |
Het |
| Dab2ip |
C |
T |
2: 35,599,966 (GRCm39) |
T251M |
probably damaging |
Het |
| Dcaf8 |
T |
A |
1: 172,007,524 (GRCm39) |
I331N |
probably damaging |
Het |
| Dcp2 |
C |
T |
18: 44,538,361 (GRCm39) |
R173C |
probably damaging |
Het |
| Dgka |
C |
T |
10: 128,557,055 (GRCm39) |
C640Y |
probably damaging |
Het |
| Entrep3 |
T |
A |
3: 89,092,007 (GRCm39) |
L155Q |
probably damaging |
Het |
| Gm10801 |
AAGT |
AAGTAGT |
2: 98,494,148 (GRCm39) |
|
probably null |
Het |
| Gpr141 |
T |
C |
13: 19,935,995 (GRCm39) |
N260S |
probably benign |
Het |
| Htr2a |
T |
A |
14: 74,943,516 (GRCm39) |
F365L |
probably damaging |
Het |
| Kdm5b |
T |
C |
1: 134,515,705 (GRCm39) |
Y110H |
possibly damaging |
Het |
| Ktn1 |
A |
G |
14: 47,912,318 (GRCm39) |
T362A |
probably benign |
Het |
| Ltbp1 |
G |
A |
17: 75,597,112 (GRCm39) |
S581N |
probably benign |
Het |
| Nr1h4 |
C |
A |
10: 89,309,688 (GRCm39) |
R347L |
possibly damaging |
Het |
| Or4f60 |
A |
T |
2: 111,902,808 (GRCm39) |
M40K |
possibly damaging |
Het |
| Or8g26 |
G |
T |
9: 39,095,838 (GRCm39) |
M118I |
probably damaging |
Het |
| Parg |
T |
G |
14: 31,939,662 (GRCm39) |
F563V |
probably damaging |
Het |
| Pfkfb3 |
T |
C |
2: 11,487,276 (GRCm39) |
Y378C |
probably damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Pitpnm2 |
A |
C |
5: 124,271,469 (GRCm39) |
L368R |
probably benign |
Het |
| Pkd1l3 |
A |
G |
8: 110,350,312 (GRCm39) |
T386A |
possibly damaging |
Het |
| Plch2 |
C |
A |
4: 155,071,049 (GRCm39) |
C1110F |
|
Het |
| Poc5 |
T |
C |
13: 96,547,114 (GRCm39) |
V459A |
probably damaging |
Het |
| Pou4f3 |
T |
C |
18: 42,528,959 (GRCm39) |
S301P |
probably damaging |
Het |
| Rpf2 |
T |
C |
10: 40,101,336 (GRCm39) |
D233G |
possibly damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,113,633 (GRCm39) |
Y111H |
probably benign |
Het |
| Serpinb10 |
C |
T |
1: 107,466,179 (GRCm39) |
T55M |
probably benign |
Het |
| Serpinb1a |
C |
T |
13: 33,026,910 (GRCm39) |
C344Y |
probably benign |
Het |
| Shprh |
T |
C |
10: 11,081,007 (GRCm39) |
V1524A |
probably damaging |
Het |
| Sirt1 |
T |
C |
10: 63,158,025 (GRCm39) |
H463R |
probably damaging |
Het |
| Skor2 |
T |
A |
18: 76,948,300 (GRCm39) |
L674Q |
probably damaging |
Het |
| Slc3a2 |
T |
A |
19: 8,690,189 (GRCm39) |
K201M |
possibly damaging |
Het |
| Spata31h1 |
C |
A |
10: 82,123,459 (GRCm39) |
V3184L |
possibly damaging |
Het |
| Stam |
C |
A |
2: 14,146,564 (GRCm39) |
Q421K |
possibly damaging |
Het |
| Steap4 |
G |
A |
5: 8,026,720 (GRCm39) |
V228M |
probably damaging |
Het |
| Tacr3 |
A |
G |
3: 134,638,043 (GRCm39) |
Y400C |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,155,396 (GRCm39) |
V54A |
probably damaging |
Het |
| Tgm3 |
A |
T |
2: 129,880,527 (GRCm39) |
E444D |
probably benign |
Het |
| Trim30a |
A |
T |
7: 104,078,410 (GRCm39) |
L222Q |
probably damaging |
Het |
| Trmt1l |
T |
C |
1: 151,325,817 (GRCm39) |
Y421H |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,288,867 (GRCm39) |
F2500L |
probably damaging |
Het |
| Vmn2r54 |
T |
A |
7: 12,349,441 (GRCm39) |
S714C |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,227,735 (GRCm39) |
I409T |
probably benign |
Het |
| Zfta |
T |
C |
19: 7,397,624 (GRCm39) |
L57P |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2022-05-16 |
Incidental Mutation