Incidental Mutation 'R0436:Abcb10'
| ID |
39010 |
| 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 |
038637-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0436 (G1)
|
| Quality Score |
129 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
124679198-124709861 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 124697740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 195
(G195S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075011
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075578]
[ENSMUST00000127664]
|
| AlphaFold |
Q9JI39 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075578
AA Change: G195S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000075011
Gene: ENSMUSG00000031974
AA Change: G195S
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.4%
|
| Validation Efficiency |
100% (66/66) |
| 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 |
|---|
| 4933430I17Rik |
T |
C |
4: 62,461,682 (GRCm39) |
|
probably benign |
Het |
| Adrb2 |
A |
G |
18: 62,312,624 (GRCm39) |
V67A |
possibly damaging |
Het |
| Alx4 |
A |
T |
2: 93,498,702 (GRCm39) |
K145* |
probably null |
Het |
| Arl8a |
G |
A |
1: 135,074,718 (GRCm39) |
M1I |
probably null |
Het |
| Btbd16 |
G |
A |
7: 130,387,783 (GRCm39) |
S134N |
probably benign |
Het |
| Ccdc136 |
T |
A |
6: 29,414,933 (GRCm39) |
L474Q |
probably damaging |
Het |
| Cebpz |
A |
G |
17: 79,243,079 (GRCm39) |
Y192H |
probably benign |
Het |
| Cep95 |
A |
G |
11: 106,709,511 (GRCm39) |
Q109R |
probably null |
Het |
| Cfap54 |
G |
T |
10: 92,874,837 (GRCm39) |
Q520K |
possibly damaging |
Het |
| Cog2 |
C |
T |
8: 125,275,253 (GRCm39) |
|
probably benign |
Het |
| Cul1 |
A |
G |
6: 47,500,707 (GRCm39) |
N702S |
probably benign |
Het |
| D430041D05Rik |
G |
C |
2: 103,998,295 (GRCm39) |
P1836R |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,291,034 (GRCm39) |
D2472G |
probably damaging |
Het |
| Drgx |
T |
C |
14: 32,330,040 (GRCm39) |
F81S |
probably damaging |
Het |
| Ect2 |
A |
G |
3: 27,204,244 (GRCm39) |
F22L |
probably benign |
Het |
| Ehd4 |
A |
T |
2: 119,932,822 (GRCm39) |
D201E |
probably damaging |
Het |
| Eif4ebp3 |
A |
G |
18: 36,797,354 (GRCm39) |
|
probably null |
Het |
| Exd2 |
T |
C |
12: 80,537,544 (GRCm39) |
|
probably benign |
Het |
| Gtf2a1 |
A |
C |
12: 91,535,047 (GRCm39) |
|
probably null |
Het |
| H2-DMb1 |
A |
G |
17: 34,378,630 (GRCm39) |
Y256C |
probably damaging |
Het |
| Haus6 |
T |
C |
4: 86,504,044 (GRCm39) |
R527G |
probably benign |
Het |
| Helb |
C |
T |
10: 119,930,117 (GRCm39) |
|
probably benign |
Het |
| Hhatl |
C |
T |
9: 121,617,828 (GRCm39) |
A254T |
probably benign |
Het |
| Hk1 |
A |
T |
10: 62,135,054 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,295,624 (GRCm39) |
K2611R |
probably damaging |
Het |
| Hrc |
A |
G |
7: 44,985,557 (GRCm39) |
H236R |
possibly damaging |
Het |
| Hunk |
T |
A |
16: 90,261,042 (GRCm39) |
Y178N |
probably damaging |
Het |
| Iftap |
T |
C |
2: 101,440,864 (GRCm39) |
|
probably benign |
Het |
| Jakmip2 |
G |
A |
18: 43,691,234 (GRCm39) |
Q616* |
probably null |
Het |
| Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
| Msantd4 |
C |
T |
9: 4,385,180 (GRCm39) |
R302C |
probably damaging |
Het |
| Nae1 |
T |
C |
8: 105,249,868 (GRCm39) |
|
probably benign |
Het |
| Nek4 |
C |
T |
14: 30,692,429 (GRCm39) |
L293F |
probably damaging |
Het |
| Odf2l |
C |
T |
3: 144,831,877 (GRCm39) |
T44I |
possibly damaging |
Het |
| Or52s19 |
A |
G |
7: 103,007,948 (GRCm39) |
V151A |
possibly damaging |
Het |
| Otog |
G |
A |
7: 45,915,360 (GRCm39) |
|
probably benign |
Het |
| Ppp1r21 |
C |
T |
17: 88,873,117 (GRCm39) |
T425I |
possibly damaging |
Het |
| Prrc2b |
A |
G |
2: 32,120,672 (GRCm39) |
E2204G |
probably damaging |
Het |
| Prrc2c |
A |
C |
1: 162,532,883 (GRCm39) |
|
probably benign |
Het |
| Ptgs2 |
T |
C |
1: 149,980,028 (GRCm39) |
|
probably benign |
Het |
| Slc12a8 |
T |
A |
16: 33,371,455 (GRCm39) |
V197E |
probably damaging |
Het |
| Syne3 |
A |
G |
12: 104,913,183 (GRCm39) |
W593R |
possibly damaging |
Het |
| Tmem63a |
A |
T |
1: 180,800,298 (GRCm39) |
T696S |
probably benign |
Het |
| Tnks2 |
A |
G |
19: 36,826,758 (GRCm39) |
D165G |
possibly damaging |
Het |
| Trim43a |
T |
C |
9: 88,470,240 (GRCm39) |
W349R |
probably damaging |
Het |
| Unc45b |
T |
C |
11: 82,820,393 (GRCm39) |
|
probably benign |
Het |
| Vmn1r4 |
T |
A |
6: 56,933,947 (GRCm39) |
N150K |
probably damaging |
Het |
| Wdfy4 |
C |
A |
14: 32,805,769 (GRCm39) |
|
probably benign |
Het |
| Wdr77 |
T |
A |
3: 105,867,342 (GRCm39) |
D63E |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,463,164 (GRCm39) |
T672A |
unknown |
Het |
| Zdhhc17 |
A |
T |
10: 110,817,851 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCCGAATGACCGTAACACCTTCC -3'
(R):5'- TGCTGTGAATACGAGTGTCGCTCC -3'
Sequencing Primer
(F):5'- acgcctttaatcccagcac -3'
(R):5'- AGTGTCGCTCCTGTCTTTCAG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation