Incidental Mutation 'R8131:Abcb10'
ID |
632019 |
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 |
067560-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8131 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
124679198-124709861 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 124691757 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 403
(A403T)
|
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: A403T
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 |
|
Meta Mutation Damage Score |
0.0704 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.1%
|
Validation Efficiency |
100% (50/50) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544D05Rik |
A |
G |
11: 70,506,834 (GRCm39) |
|
probably null |
Het |
Acan |
C |
T |
7: 78,741,086 (GRCm39) |
P484L |
possibly damaging |
Het |
Amotl2 |
T |
A |
9: 102,597,615 (GRCm39) |
Y125N |
probably damaging |
Het |
Apaf1 |
C |
A |
10: 90,913,420 (GRCm39) |
V168F |
possibly damaging |
Het |
Arhgap32 |
C |
T |
9: 32,158,426 (GRCm39) |
H154Y |
probably damaging |
Het |
B4galnt3 |
A |
G |
6: 120,271,346 (GRCm39) |
|
probably null |
Het |
Bahcc1 |
C |
T |
11: 120,163,664 (GRCm39) |
A654V |
probably benign |
Het |
Bcl11b |
T |
A |
12: 107,931,967 (GRCm39) |
M202L |
probably benign |
Het |
Cdc40 |
C |
A |
10: 40,717,473 (GRCm39) |
R406L |
possibly damaging |
Het |
Cemip |
C |
A |
7: 83,652,616 (GRCm39) |
|
probably benign |
Het |
Col26a1 |
T |
C |
5: 136,775,894 (GRCm39) |
D353G |
probably benign |
Het |
Col6a5 |
T |
A |
9: 105,778,815 (GRCm39) |
Q1682L |
unknown |
Het |
Cul9 |
C |
T |
17: 46,822,168 (GRCm39) |
G1819D |
probably damaging |
Het |
Cyp2b10 |
C |
T |
7: 25,614,242 (GRCm39) |
Q239* |
probably null |
Het |
Dthd1 |
T |
A |
5: 63,000,259 (GRCm39) |
I527N |
probably damaging |
Het |
Dzip3 |
C |
T |
16: 48,754,156 (GRCm39) |
|
probably null |
Het |
Ecm2 |
A |
G |
13: 49,671,940 (GRCm39) |
E147G |
probably benign |
Het |
Ercc6l2 |
C |
T |
13: 63,982,561 (GRCm39) |
T132M |
probably damaging |
Het |
Esf1 |
G |
A |
2: 139,990,751 (GRCm39) |
Q578* |
probably null |
Het |
Gria4 |
C |
T |
9: 4,502,429 (GRCm39) |
R368H |
probably benign |
Het |
Hps5 |
T |
C |
7: 46,421,312 (GRCm39) |
D717G |
probably benign |
Het |
Hrh1 |
A |
T |
6: 114,457,253 (GRCm39) |
D178V |
probably benign |
Het |
Inppl1 |
T |
C |
7: 101,479,268 (GRCm39) |
N537S |
possibly damaging |
Het |
Itih1 |
T |
C |
14: 30,663,521 (GRCm39) |
Y165C |
probably damaging |
Het |
Krt71 |
T |
A |
15: 101,643,141 (GRCm39) |
I456F |
possibly damaging |
Het |
Larp4 |
T |
C |
15: 99,892,570 (GRCm39) |
V255A |
probably damaging |
Het |
Lrriq1 |
T |
G |
10: 103,051,572 (GRCm39) |
R393S |
possibly damaging |
Het |
Mep1a |
T |
A |
17: 43,813,558 (GRCm39) |
I31L |
probably benign |
Het |
Muc5b |
C |
T |
7: 141,396,146 (GRCm39) |
T134I |
unknown |
Het |
Neurl4 |
T |
C |
11: 69,800,067 (GRCm39) |
Y1052H |
probably benign |
Het |
Nlrc5 |
C |
G |
8: 95,208,420 (GRCm39) |
N755K |
probably damaging |
Het |
Nrde2 |
T |
C |
12: 100,108,502 (GRCm39) |
K363R |
probably benign |
Het |
Pcdhb12 |
T |
C |
18: 37,570,335 (GRCm39) |
S494P |
possibly damaging |
Het |
Pcnx1 |
C |
A |
12: 81,965,292 (GRCm39) |
S486R |
possibly damaging |
Het |
Pira13 |
T |
A |
7: 3,825,161 (GRCm39) |
R494* |
probably null |
Het |
Plrg1 |
T |
A |
3: 82,977,081 (GRCm39) |
V374E |
probably damaging |
Het |
Plxnb2 |
A |
G |
15: 89,042,916 (GRCm39) |
I1491T |
probably damaging |
Het |
Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
Scn4a |
T |
C |
11: 106,232,367 (GRCm39) |
E490G |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,300,958 (GRCm39) |
V887A |
|
Het |
Serpina3a |
T |
C |
12: 104,082,467 (GRCm39) |
I80T |
probably damaging |
Het |
Setd1b |
A |
T |
5: 123,281,443 (GRCm39) |
I66F |
unknown |
Het |
Slirp |
T |
A |
12: 87,494,428 (GRCm39) |
|
probably null |
Het |
Socs6 |
A |
C |
18: 88,888,169 (GRCm39) |
S249A |
probably benign |
Het |
Thoc2l |
A |
G |
5: 104,669,027 (GRCm39) |
E1183G |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,616,077 (GRCm39) |
I16622N |
probably damaging |
Het |
Uox |
A |
T |
3: 146,331,589 (GRCm39) |
T237S |
probably damaging |
Het |
Vmn2r43 |
T |
A |
7: 8,258,326 (GRCm39) |
I296L |
probably benign |
Het |
Vmn2r74 |
T |
A |
7: 85,601,943 (GRCm39) |
D565V |
probably benign |
Het |
Vps13b |
T |
C |
15: 35,372,255 (GRCm39) |
|
probably null |
Het |
Vps13d |
A |
G |
4: 144,882,707 (GRCm39) |
V962A |
|
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 |
|
|
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'- AACTCAGGCTGGGAAACAC -3'
(R):5'- GGAGGCCGAGATCTAGTTTATACTC -3'
Sequencing Primer
(F):5'- TCCTAAGCTGTGGGAGGACAC -3'
(R):5'- CTTGTCCCAAGAAGCCTTCGG -3'
|
Posted On |
2020-06-30 |