Incidental Mutation 'IGL02715:Abce1'
| ID |
304720 |
| 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 # |
IGL02715
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
80410091-80438369 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80416990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 340
(E340D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080536]
|
| AlphaFold |
P61222 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080536
AA Change: E340D
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000079379
Gene: ENSMUSG00000058355
AA Change: E340D
| 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: 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
C |
11: 72,089,714 (GRCm39) |
I57V |
probably damaging |
Het |
| Agbl2 |
C |
T |
2: 90,636,212 (GRCm39) |
R583W |
probably damaging |
Het |
| Aig1 |
A |
G |
10: 13,744,360 (GRCm39) |
|
probably null |
Het |
| Atpsckmt |
A |
G |
15: 31,606,149 (GRCm39) |
T36A |
probably benign |
Het |
| Brd3 |
C |
A |
2: 27,344,495 (GRCm39) |
A412S |
possibly damaging |
Het |
| C3 |
A |
G |
17: 57,511,158 (GRCm39) |
|
probably benign |
Het |
| Ccdc127 |
A |
G |
13: 74,504,893 (GRCm39) |
E147G |
probably benign |
Het |
| Chrna4 |
A |
G |
2: 180,671,374 (GRCm39) |
|
probably benign |
Het |
| Cnn2 |
T |
C |
10: 79,829,323 (GRCm39) |
L151P |
probably damaging |
Het |
| Col11a1 |
G |
T |
3: 113,923,058 (GRCm39) |
M7I |
probably benign |
Het |
| Cstdc4 |
T |
C |
16: 36,008,315 (GRCm39) |
I67T |
possibly damaging |
Het |
| Fastkd1 |
A |
G |
2: 69,542,469 (GRCm39) |
|
probably null |
Het |
| Fcho2 |
A |
G |
13: 98,932,843 (GRCm39) |
M53T |
probably damaging |
Het |
| Fmnl2 |
T |
C |
2: 52,962,222 (GRCm39) |
Y236H |
possibly damaging |
Het |
| G6bos |
A |
G |
17: 35,284,537 (GRCm39) |
|
probably null |
Het |
| Gramd1a |
C |
T |
7: 30,835,279 (GRCm39) |
G436D |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,007,131 (GRCm39) |
Y1243C |
probably benign |
Het |
| Lrit2 |
A |
G |
14: 36,794,505 (GRCm39) |
D523G |
probably benign |
Het |
| Lrrc2 |
A |
C |
9: 110,799,182 (GRCm39) |
D177A |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,848,905 (GRCm39) |
|
probably null |
Het |
| Mrgpra6 |
A |
T |
7: 46,838,396 (GRCm39) |
|
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,184,365 (GRCm39) |
|
probably benign |
Het |
| Myzap |
C |
A |
9: 71,422,397 (GRCm39) |
E392* |
probably null |
Het |
| Ndst3 |
G |
A |
3: 123,340,410 (GRCm39) |
|
probably benign |
Het |
| Nlrc5 |
C |
A |
8: 95,201,296 (GRCm39) |
P130H |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,971,137 (GRCm39) |
T2526A |
probably benign |
Het |
| Or1e26 |
T |
A |
11: 73,479,947 (GRCm39) |
I206F |
probably benign |
Het |
| Pcnt |
C |
A |
10: 76,204,556 (GRCm39) |
|
probably benign |
Het |
| Pfpl |
T |
A |
19: 12,407,145 (GRCm39) |
C465* |
probably null |
Het |
| Pkd1l3 |
T |
A |
8: 110,353,458 (GRCm39) |
C680S |
probably damaging |
Het |
| Ppp1r10 |
G |
T |
17: 36,241,604 (GRCm39) |
G793V |
unknown |
Het |
| Prss27 |
A |
T |
17: 24,263,953 (GRCm39) |
D213V |
possibly damaging |
Het |
| Sh2d5 |
T |
C |
4: 137,984,018 (GRCm39) |
|
probably benign |
Het |
| Spata31d1a |
T |
C |
13: 59,851,549 (GRCm39) |
D193G |
probably benign |
Het |
| Sptan1 |
T |
C |
2: 29,868,588 (GRCm39) |
V66A |
probably benign |
Het |
| Synpr |
T |
C |
14: 13,608,618 (GRCm38) |
S133P |
probably damaging |
Het |
| Tagln3 |
T |
C |
16: 45,544,588 (GRCm39) |
N28D |
probably benign |
Het |
| Tfrc |
A |
G |
16: 32,443,189 (GRCm39) |
T494A |
probably benign |
Het |
| Tmem38a |
T |
C |
8: 73,333,512 (GRCm39) |
I77T |
possibly damaging |
Het |
| Tmem42 |
C |
A |
9: 122,851,295 (GRCm39) |
T86N |
probably damaging |
Het |
| Ttc8 |
T |
A |
12: 98,910,179 (GRCm39) |
|
probably benign |
Het |
| Tub |
G |
A |
7: 108,628,517 (GRCm39) |
V342I |
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,014,218 (GRCm39) |
I337F |
probably damaging |
Het |
| Xkr7 |
A |
G |
2: 152,896,277 (GRCm39) |
E377G |
probably damaging |
Het |
| Zfp292 |
C |
T |
4: 34,819,542 (GRCm39) |
G260D |
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 |
|
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 |
2015-04-16 |
Incidental Mutation