Incidental Mutation 'R1355:Abcb10'
ID |
156284 |
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 |
039420-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1355 (G1)
|
Quality Score |
225 |
Status
|
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: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.4%
|
Validation Efficiency |
100% (57/57) |
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 |
Ankrd52 |
A |
G |
10: 128,224,565 (GRCm39) |
D781G |
possibly damaging |
Het |
Arhgef5 |
T |
A |
6: 43,260,846 (GRCm39) |
F1424I |
probably damaging |
Het |
Atp10b |
G |
A |
11: 43,042,482 (GRCm39) |
W14* |
probably null |
Het |
B4galnt4 |
T |
C |
7: 140,645,308 (GRCm39) |
V259A |
probably damaging |
Het |
Ccdc141 |
A |
T |
2: 76,860,945 (GRCm39) |
I944N |
probably damaging |
Het |
Ccdc146 |
A |
T |
5: 21,526,240 (GRCm39) |
D224E |
probably damaging |
Het |
Ccne1 |
A |
G |
7: 37,805,747 (GRCm39) |
I43T |
possibly damaging |
Het |
Cd226 |
T |
A |
18: 89,265,147 (GRCm39) |
S29T |
probably benign |
Het |
Cebpz |
G |
T |
17: 79,242,753 (GRCm39) |
D300E |
probably benign |
Het |
Cryzl1 |
A |
G |
16: 91,489,546 (GRCm39) |
V266A |
possibly damaging |
Het |
Cyp2c68 |
A |
G |
19: 39,729,400 (GRCm39) |
L29P |
probably damaging |
Het |
Dennd3 |
A |
C |
15: 73,412,703 (GRCm39) |
|
probably benign |
Het |
Dpy19l4 |
C |
T |
4: 11,303,371 (GRCm39) |
W183* |
probably null |
Het |
Eml6 |
T |
G |
11: 29,783,085 (GRCm39) |
S599R |
probably benign |
Het |
Erc1 |
A |
T |
6: 119,720,381 (GRCm39) |
L440* |
probably null |
Het |
Frem3 |
A |
G |
8: 81,417,331 (GRCm39) |
Y2012C |
probably damaging |
Het |
Garin5a |
A |
G |
7: 44,146,115 (GRCm39) |
K2E |
possibly damaging |
Het |
Gm10288 |
A |
T |
3: 146,544,748 (GRCm39) |
|
noncoding transcript |
Het |
Gm1110 |
T |
A |
9: 26,795,057 (GRCm39) |
K476N |
probably benign |
Het |
Gm11937 |
A |
T |
11: 99,500,733 (GRCm39) |
S95T |
possibly damaging |
Het |
H2bc13 |
T |
A |
13: 21,900,027 (GRCm39) |
Q96L |
probably damaging |
Het |
Hs6st1 |
T |
A |
1: 36,142,657 (GRCm39) |
H197Q |
probably damaging |
Het |
Ism1 |
A |
T |
2: 139,573,994 (GRCm39) |
I115F |
possibly damaging |
Het |
Itgb8 |
C |
T |
12: 119,134,738 (GRCm39) |
G443E |
probably benign |
Het |
Kalrn |
T |
A |
16: 33,795,954 (GRCm39) |
I1274F |
possibly damaging |
Het |
Lrrcc1 |
G |
T |
3: 14,613,174 (GRCm39) |
V299L |
probably benign |
Het |
Mettl5 |
A |
T |
2: 69,711,764 (GRCm39) |
|
probably null |
Het |
Mtcl3 |
A |
T |
10: 29,023,318 (GRCm39) |
T222S |
probably benign |
Het |
Nlrp2 |
G |
T |
7: 5,330,490 (GRCm39) |
N635K |
possibly damaging |
Het |
Or4c3d |
G |
A |
2: 89,881,957 (GRCm39) |
T237I |
probably benign |
Het |
Or5ac16 |
A |
G |
16: 59,022,043 (GRCm39) |
S249P |
probably damaging |
Het |
Or5b112 |
T |
A |
19: 13,319,882 (GRCm39) |
Y253* |
probably null |
Het |
Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
Plxna1 |
A |
G |
6: 89,297,748 (GRCm39) |
|
probably benign |
Het |
Ppp4r1 |
A |
T |
17: 66,147,982 (GRCm39) |
E924D |
probably benign |
Het |
Prdm2 |
C |
T |
4: 142,858,533 (GRCm39) |
V1586I |
probably benign |
Het |
Pros1 |
A |
G |
16: 62,739,921 (GRCm39) |
K457E |
probably benign |
Het |
Rer1 |
T |
A |
4: 155,160,081 (GRCm39) |
M156L |
probably benign |
Het |
Rgs16 |
A |
T |
1: 153,619,414 (GRCm39) |
K140M |
probably damaging |
Het |
Rgsl1 |
A |
G |
1: 153,683,507 (GRCm39) |
M1T |
probably null |
Het |
Setdb2 |
T |
A |
14: 59,654,890 (GRCm39) |
K333N |
probably damaging |
Het |
Sgo2a |
A |
G |
1: 58,057,124 (GRCm39) |
T1103A |
possibly damaging |
Het |
Sik3 |
C |
T |
9: 46,107,170 (GRCm39) |
|
probably benign |
Het |
Slc44a3 |
C |
A |
3: 121,325,320 (GRCm39) |
G47V |
probably damaging |
Het |
Snrpd1 |
G |
A |
18: 10,627,818 (GRCm39) |
G103D |
probably benign |
Het |
Sspo |
T |
A |
6: 48,425,560 (GRCm39) |
S60R |
probably benign |
Het |
Susd1 |
C |
T |
4: 59,424,114 (GRCm39) |
C37Y |
possibly damaging |
Het |
Tiam1 |
A |
T |
16: 89,695,109 (GRCm39) |
I116N |
probably benign |
Het |
Ttc3 |
A |
G |
16: 94,219,496 (GRCm39) |
S492G |
possibly damaging |
Het |
Uckl1 |
G |
T |
2: 181,215,169 (GRCm39) |
T213K |
probably damaging |
Het |
Usp38 |
T |
C |
8: 81,711,662 (GRCm39) |
E791G |
possibly damaging |
Het |
Vps13b |
C |
T |
15: 35,422,600 (GRCm39) |
R187C |
probably damaging |
Het |
Vwa3a |
A |
G |
7: 120,383,334 (GRCm39) |
Y645C |
probably damaging |
Het |
Wasf3 |
T |
C |
5: 146,407,018 (GRCm39) |
|
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 |
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 |
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'- TGCTGACCCATTTCCAAGGGTAGG -3'
(R):5'- ACTTCAGTCAGGCAAGGGAGACAC -3'
Sequencing Primer
(F):5'- CCCATTTCCAAGGGTAGGAATATG -3'
(R):5'- GGCATTCTGCCCTGAGC -3'
|
Posted On |
2014-02-11 |