Incidental Mutation 'R8431:Abcb10'
| ID |
653754 |
| 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 |
067776-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8431 (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 124694873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 273
(F273S)
|
| 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: F273S
| 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: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd14b |
G |
T |
9: 106,328,612 (GRCm39) |
A78S |
probably benign |
Het |
| Adamtsl5 |
G |
A |
10: 80,181,228 (GRCm39) |
P51L |
probably benign |
Het |
| Adap1 |
A |
C |
5: 139,259,180 (GRCm39) |
F336V |
probably benign |
Het |
| Ankrd33b |
T |
C |
15: 31,305,248 (GRCm39) |
N172S |
probably damaging |
Het |
| Arhgap24 |
A |
G |
5: 103,040,464 (GRCm39) |
E560G |
possibly damaging |
Het |
| Ascc2 |
A |
T |
11: 4,614,227 (GRCm39) |
|
probably null |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Card6 |
A |
T |
15: 5,129,758 (GRCm39) |
F546Y |
probably damaging |
Het |
| Cby3 |
T |
G |
11: 50,250,084 (GRCm39) |
S2A |
probably damaging |
Het |
| Cct3 |
T |
C |
3: 88,225,831 (GRCm39) |
S385P |
possibly damaging |
Het |
| Cfap65 |
C |
T |
1: 74,967,203 (GRCm39) |
G249R |
probably benign |
Het |
| Cpne3 |
C |
A |
4: 19,526,316 (GRCm39) |
A408S |
probably damaging |
Het |
| Ctsr |
A |
C |
13: 61,308,304 (GRCm39) |
L280R |
probably damaging |
Het |
| D930048N14Rik |
GGG |
GGGG |
11: 51,541,946 (GRCm39) |
|
probably null |
Het |
| Dlg4 |
A |
G |
11: 69,930,388 (GRCm39) |
I388V |
probably benign |
Het |
| Ednrb |
T |
A |
14: 104,080,633 (GRCm39) |
I94F |
probably benign |
Het |
| Eftud2 |
C |
A |
11: 102,737,062 (GRCm39) |
A573S |
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,811,910 (GRCm39) |
P2743Q |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,042,010 (GRCm39) |
C505Y |
probably benign |
Het |
| Ier5 |
C |
A |
1: 154,974,306 (GRCm39) |
D291Y |
probably benign |
Het |
| Ifi207 |
T |
C |
1: 173,558,070 (GRCm39) |
I223V |
unknown |
Het |
| Ifi208 |
T |
C |
1: 173,510,844 (GRCm39) |
V333A |
possibly damaging |
Het |
| Kank4 |
T |
C |
4: 98,667,509 (GRCm39) |
I313V |
probably benign |
Het |
| Klhl7 |
T |
C |
5: 24,343,473 (GRCm39) |
V263A |
possibly damaging |
Het |
| Klrg2 |
T |
C |
6: 38,605,122 (GRCm39) |
D314G |
probably benign |
Het |
| Lrr1 |
T |
C |
12: 69,225,470 (GRCm39) |
M382T |
possibly damaging |
Het |
| Ly6e |
A |
T |
15: 74,830,190 (GRCm39) |
Q48L |
probably benign |
Het |
| Marchf6 |
C |
T |
15: 31,505,892 (GRCm39) |
W43* |
probably null |
Het |
| Mepe |
A |
G |
5: 104,486,047 (GRCm39) |
T396A |
possibly damaging |
Het |
| Myh8 |
T |
G |
11: 67,174,440 (GRCm39) |
L229R |
possibly damaging |
Het |
| Ndufa10 |
C |
G |
1: 92,379,732 (GRCm39) |
|
probably null |
Het |
| Nek1 |
C |
A |
8: 61,487,066 (GRCm39) |
A272E |
possibly damaging |
Het |
| Nr1h2 |
T |
C |
7: 44,199,767 (GRCm39) |
Y384C |
probably damaging |
Het |
| Or4c118 |
C |
A |
2: 88,974,723 (GRCm39) |
V215F |
probably benign |
Het |
| Pcnx3 |
C |
T |
19: 5,715,412 (GRCm39) |
G1946E |
probably damaging |
Het |
| Phf2 |
A |
G |
13: 48,975,078 (GRCm39) |
F294S |
unknown |
Het |
| Polr3e |
A |
T |
7: 120,530,528 (GRCm39) |
I173F |
probably damaging |
Het |
| Ppfia2 |
A |
T |
10: 106,671,952 (GRCm39) |
R464* |
probably null |
Het |
| Ppp1r9a |
T |
A |
6: 5,115,456 (GRCm39) |
S860T |
probably benign |
Het |
| Rnf144a |
T |
C |
12: 26,377,300 (GRCm39) |
Y93C |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,673,894 (GRCm39) |
E3390G |
probably benign |
Het |
| Scn7a |
T |
C |
2: 66,534,164 (GRCm39) |
T504A |
possibly damaging |
Het |
| Slc26a5 |
T |
G |
5: 22,018,904 (GRCm39) |
D645A |
probably damaging |
Het |
| Sp140l2 |
G |
A |
1: 85,235,170 (GRCm39) |
H130Y |
probably benign |
Het |
| Ston2 |
T |
A |
12: 91,615,071 (GRCm39) |
I446F |
probably damaging |
Het |
| Tcp11l1 |
G |
A |
2: 104,530,314 (GRCm39) |
P57S |
probably damaging |
Het |
| Th |
G |
T |
7: 142,446,801 (GRCm39) |
H488Q |
probably benign |
Het |
| Tmprss4 |
A |
T |
9: 45,095,661 (GRCm39) |
I61N |
probably benign |
Het |
| Wdtc1 |
A |
G |
4: 133,049,481 (GRCm39) |
|
probably null |
Het |
| Xpnpep1 |
T |
C |
19: 52,983,937 (GRCm39) |
N596S |
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 |
|
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 |
|
|
|
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'- ATTCCGCCTGTTGCTCTGAG -3'
(R):5'- TAGAACATCTTGAACTAGCCAGG -3'
Sequencing Primer
(F):5'- GTTGCTCTGAGCCCCACAC -3'
(R):5'- GCATCACAGTATAGACCTGGTTGTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation