Incidental Mutation 'IGL01967:Abce1'
| ID |
181557 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Abce1
|
| Ensembl Gene |
ENSMUSG00000058355 |
| Gene Name |
ATP-binding cassette, sub-family E member 1 |
| Synonyms |
RNS4l (Eye), Rnaseli, Oabp |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01967
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
80410091-80438369 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80412620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 569
(D569G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080536]
|
| AlphaFold |
P61222 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080536
AA Change: D569G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000079379
Gene: ENSMUSG00000058355
AA Change: D569G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RLI
|
6 |
37 |
6.9e-18 |
PFAM |
|
Pfam:Fer4
|
48 |
71 |
8e-10 |
PFAM |
|
AAA
|
102 |
293 |
2.34e-8 |
SMART |
|
low complexity region
|
343 |
358 |
N/A |
INTRINSIC |
|
AAA
|
371 |
539 |
2.86e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211509
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the OABP subfamily. Alternatively referred to as the RNase L inhibitor, this protein functions to block the activity of ribonuclease L. Activation of ribonuclease L leads to inhibition of protein synthesis in the 2-5A/RNase L system, the central pathway for viral interferon action. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
G |
12: 118,831,707 (GRCm39) |
L1215P |
probably damaging |
Het |
| Adnp |
A |
G |
2: 168,025,339 (GRCm39) |
V652A |
possibly damaging |
Het |
| Bco2 |
A |
G |
9: 50,446,809 (GRCm39) |
I448T |
probably damaging |
Het |
| Cdh20 |
T |
A |
1: 104,868,762 (GRCm39) |
H84Q |
probably damaging |
Het |
| Cep126 |
A |
G |
9: 8,095,209 (GRCm39) |
|
probably null |
Het |
| Clca4b |
A |
G |
3: 144,633,951 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,202,649 (GRCm39) |
N142Y |
probably damaging |
Het |
| Gnaq |
C |
T |
19: 16,355,524 (GRCm39) |
R247C |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,874,896 (GRCm39) |
E282V |
probably damaging |
Het |
| Klf3 |
T |
C |
5: 64,979,430 (GRCm39) |
S91P |
probably damaging |
Het |
| Lmtk2 |
C |
A |
5: 144,119,597 (GRCm39) |
H1353N |
probably benign |
Het |
| Magi1 |
G |
T |
6: 93,685,115 (GRCm39) |
H526Q |
probably damaging |
Het |
| Mecr |
A |
G |
4: 131,589,192 (GRCm39) |
|
probably null |
Het |
| Mllt6 |
T |
C |
11: 97,565,603 (GRCm39) |
F630L |
probably damaging |
Het |
| Nav1 |
T |
C |
1: 135,464,983 (GRCm39) |
N274S |
probably damaging |
Het |
| Nmi |
T |
C |
2: 51,846,052 (GRCm39) |
|
probably null |
Het |
| Or7e170 |
A |
G |
9: 19,794,885 (GRCm39) |
S239P |
probably damaging |
Het |
| Perm1 |
G |
T |
4: 156,302,118 (GRCm39) |
G221W |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,303,524 (GRCm39) |
N1681K |
possibly damaging |
Het |
| Ptch2 |
T |
C |
4: 116,971,430 (GRCm39) |
|
probably benign |
Het |
| Sc5d |
A |
T |
9: 42,169,930 (GRCm39) |
L97Q |
possibly damaging |
Het |
| Scaf8 |
T |
A |
17: 3,247,213 (GRCm39) |
N845K |
possibly damaging |
Het |
| Sema7a |
A |
G |
9: 57,863,678 (GRCm39) |
K284E |
probably damaging |
Het |
| Slc16a3 |
G |
A |
11: 120,847,864 (GRCm39) |
V351M |
probably damaging |
Het |
| Strn3 |
A |
G |
12: 51,699,596 (GRCm39) |
I192T |
probably damaging |
Het |
| Syne2 |
A |
C |
12: 75,988,077 (GRCm39) |
D1745A |
probably damaging |
Het |
| Ttc13 |
T |
C |
8: 125,439,386 (GRCm39) |
T123A |
probably damaging |
Het |
| Zbtb18 |
T |
A |
1: 177,275,348 (GRCm39) |
V236D |
probably benign |
Het |
| Zfp438 |
T |
C |
18: 5,214,049 (GRCm39) |
E303G |
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,786,109 (GRCm39) |
Q146R |
probably damaging |
Het |
| Zfp972 |
A |
T |
2: 177,563,495 (GRCm39) |
N38K |
probably damaging |
Het |
|
| Other mutations in Abce1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01583:Abce1
|
APN |
8 |
80,420,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02715:Abce1
|
APN |
8 |
80,416,990 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02878:Abce1
|
APN |
8 |
80,429,636 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03080:Abce1
|
APN |
8 |
80,429,630 (GRCm39) |
splice site |
probably null |
|
|
Crushed
|
UTSW |
8 |
80,411,885 (GRCm39) |
nonsense |
probably null |
|
|
R0256:Abce1
|
UTSW |
8 |
80,412,572 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1458:Abce1
|
UTSW |
8 |
80,433,864 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1871:Abce1
|
UTSW |
8 |
80,411,897 (GRCm39) |
nonsense |
probably null |
|
|
R1872:Abce1
|
UTSW |
8 |
80,416,880 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1879:Abce1
|
UTSW |
8 |
80,414,085 (GRCm39) |
missense |
probably benign |
|
|
R1957:Abce1
|
UTSW |
8 |
80,412,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4642:Abce1
|
UTSW |
8 |
80,415,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4666:Abce1
|
UTSW |
8 |
80,414,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Abce1
|
UTSW |
8 |
80,427,215 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5583:Abce1
|
UTSW |
8 |
80,416,922 (GRCm39) |
missense |
probably benign |
|
|
R5666:Abce1
|
UTSW |
8 |
80,416,906 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6484:Abce1
|
UTSW |
8 |
80,416,952 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6671:Abce1
|
UTSW |
8 |
80,415,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7084:Abce1
|
UTSW |
8 |
80,426,043 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7098:Abce1
|
UTSW |
8 |
80,412,678 (GRCm39) |
missense |
probably benign |
|
|
R7246:Abce1
|
UTSW |
8 |
80,429,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7283:Abce1
|
UTSW |
8 |
80,411,885 (GRCm39) |
nonsense |
probably null |
|
|
R7604:Abce1
|
UTSW |
8 |
80,426,003 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7729:Abce1
|
UTSW |
8 |
80,414,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8047:Abce1
|
UTSW |
8 |
80,427,817 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8062:Abce1
|
UTSW |
8 |
80,427,773 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8134:Abce1
|
UTSW |
8 |
80,425,982 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8716:Abce1
|
UTSW |
8 |
80,427,784 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8934:Abce1
|
UTSW |
8 |
80,429,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Abce1
|
UTSW |
8 |
80,414,098 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2014-05-07 |
Incidental Mutation