Incidental Mutation 'IGL03080:Abce1'
| ID |
417839 |
| 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 # |
IGL03080
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
80410091-80438369 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 80429630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080536]
|
| AlphaFold |
P61222 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000080536
|
| SMART Domains |
Protein: ENSMUSP00000079379
Gene: ENSMUSG00000058355
| 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: ENSMUST00000182218
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209354
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
T |
C |
5: 30,401,827 (GRCm39) |
M734V |
probably benign |
Het |
| Aqp8 |
T |
G |
7: 123,065,802 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Cntn4 |
A |
G |
6: 106,632,500 (GRCm39) |
D508G |
probably damaging |
Het |
| Cyp11b1 |
A |
T |
15: 74,711,285 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
A |
G |
17: 30,937,980 (GRCm39) |
D1619G |
probably benign |
Het |
| Eif1ad17 |
A |
T |
12: 87,978,615 (GRCm39) |
|
probably benign |
Het |
| Ephb4 |
T |
A |
5: 137,352,345 (GRCm39) |
|
probably benign |
Het |
| Ffar3 |
A |
T |
7: 30,554,747 (GRCm39) |
V191E |
probably damaging |
Het |
| Galnt1 |
T |
A |
18: 24,402,574 (GRCm39) |
D310E |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,945,563 (GRCm39) |
Y342C |
probably benign |
Het |
| Jade1 |
T |
A |
3: 41,554,510 (GRCm39) |
C251* |
probably null |
Het |
| Jhy |
T |
C |
9: 40,855,653 (GRCm39) |
E278G |
probably damaging |
Het |
| Kif24 |
A |
C |
4: 41,394,417 (GRCm39) |
S819A |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,712,996 (GRCm39) |
L344P |
probably damaging |
Het |
| Lrrc27 |
A |
G |
7: 138,810,153 (GRCm39) |
T375A |
probably benign |
Het |
| Mbd3 |
C |
T |
10: 80,229,085 (GRCm39) |
R204Q |
probably damaging |
Het |
| Nab2 |
T |
C |
10: 127,500,663 (GRCm39) |
N143S |
possibly damaging |
Het |
| Nkiras2 |
T |
C |
11: 100,515,105 (GRCm39) |
|
probably null |
Het |
| Or7e174 |
A |
T |
9: 20,012,705 (GRCm39) |
I217F |
probably damaging |
Het |
| Palm |
C |
A |
10: 79,654,951 (GRCm39) |
H74Q |
probably damaging |
Het |
| Pros1 |
T |
A |
16: 62,738,506 (GRCm39) |
N408K |
probably damaging |
Het |
| Psg23 |
T |
A |
7: 18,340,910 (GRCm39) |
Y448F |
probably damaging |
Het |
| Ranbp2 |
C |
A |
10: 58,312,613 (GRCm39) |
P1111Q |
probably benign |
Het |
| Rims2 |
A |
G |
15: 39,399,299 (GRCm39) |
S1115G |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,528,160 (GRCm39) |
T777A |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,119,816 (GRCm39) |
D428G |
probably damaging |
Het |
| Stard3nl |
A |
T |
13: 19,554,648 (GRCm39) |
|
probably null |
Het |
| Sult1d1 |
T |
C |
5: 87,704,847 (GRCm39) |
D214G |
probably benign |
Het |
| Tmprss12 |
T |
C |
15: 100,190,529 (GRCm39) |
W300R |
probably damaging |
Het |
| Tmprss2 |
T |
C |
16: 97,398,044 (GRCm39) |
Y44C |
probably damaging |
Het |
| Ttk |
A |
G |
9: 83,725,136 (GRCm39) |
N154D |
probably damaging |
Het |
| Tut4 |
T |
A |
4: 108,363,021 (GRCm39) |
S444R |
probably damaging |
Het |
| Tyw1 |
T |
C |
5: 130,295,896 (GRCm39) |
Y108H |
probably damaging |
Het |
| Vmn2r44 |
C |
A |
7: 8,386,244 (GRCm39) |
|
probably benign |
Het |
| Zfand1 |
A |
G |
3: 10,405,797 (GRCm39) |
*269Q |
probably null |
Het |
| Zfp142 |
A |
T |
1: 74,610,368 (GRCm39) |
D1039E |
probably benign |
Het |
| Zkscan5 |
G |
T |
5: 145,155,460 (GRCm39) |
S377I |
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 |
|
IGL01967:Abce1
|
APN |
8 |
80,412,620 (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 |
|
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 |
2016-08-02 |
Incidental Mutation