Incidental Mutation 'IGL02878:Abce1'
ID |
362690 |
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 # |
IGL02878
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
80410091-80438369 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80429636 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 95
(H95R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079379
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080536]
|
AlphaFold |
P61222 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080536
AA Change: H95R
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000079379 Gene: ENSMUSG00000058355 AA Change: H95R
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 110,029,155 (GRCm39) |
D801G |
probably benign |
Het |
Axl |
T |
A |
7: 25,458,302 (GRCm39) |
M818L |
probably damaging |
Het |
Cckbr |
C |
T |
7: 105,083,238 (GRCm39) |
A147V |
probably damaging |
Het |
Cdc40 |
T |
C |
10: 40,719,118 (GRCm39) |
D337G |
probably damaging |
Het |
Cep70 |
T |
C |
9: 99,163,160 (GRCm39) |
|
probably benign |
Het |
Cpeb1 |
C |
T |
7: 81,007,074 (GRCm39) |
V318I |
probably damaging |
Het |
Crlf1 |
G |
A |
8: 70,956,290 (GRCm39) |
|
probably null |
Het |
Dnah6 |
A |
T |
6: 73,009,570 (GRCm39) |
D3740E |
probably benign |
Het |
Dnajc28 |
C |
T |
16: 91,413,329 (GRCm39) |
R329Q |
possibly damaging |
Het |
Ehmt2 |
T |
C |
17: 35,129,743 (GRCm39) |
Y946H |
probably damaging |
Het |
Gapdhs |
C |
T |
7: 30,429,304 (GRCm39) |
|
probably benign |
Het |
Gpr61 |
A |
T |
3: 108,057,344 (GRCm39) |
L439H |
probably damaging |
Het |
Klf9 |
G |
T |
19: 23,119,633 (GRCm39) |
|
probably benign |
Het |
Krt73 |
T |
C |
15: 101,707,261 (GRCm39) |
Y309C |
probably damaging |
Het |
Lrrk1 |
T |
C |
7: 65,912,311 (GRCm39) |
M1750V |
probably benign |
Het |
Mc1r |
G |
T |
8: 124,134,369 (GRCm39) |
G41C |
probably damaging |
Het |
Mecr |
C |
A |
4: 131,582,019 (GRCm39) |
A133E |
probably damaging |
Het |
Mon2 |
T |
C |
10: 122,842,896 (GRCm39) |
N1511S |
probably benign |
Het |
Mrpl13 |
A |
T |
15: 55,403,595 (GRCm39) |
L106* |
probably null |
Het |
Mrpl48 |
A |
T |
7: 100,223,720 (GRCm39) |
V1E |
possibly damaging |
Het |
Myo1c |
T |
A |
11: 75,559,859 (GRCm39) |
W683R |
possibly damaging |
Het |
Myo9a |
G |
A |
9: 59,815,583 (GRCm39) |
|
probably null |
Het |
Myrfl |
A |
T |
10: 116,613,310 (GRCm39) |
I831K |
possibly damaging |
Het |
Neurl4 |
T |
A |
11: 69,797,657 (GRCm39) |
Y671N |
probably damaging |
Het |
Opalin |
A |
T |
19: 41,056,108 (GRCm39) |
D62E |
probably benign |
Het |
Or1j18 |
A |
T |
2: 36,624,489 (GRCm39) |
D52V |
probably damaging |
Het |
Or7a41 |
G |
T |
10: 78,871,392 (GRCm39) |
C254F |
probably benign |
Het |
Otoa |
T |
C |
7: 120,743,076 (GRCm39) |
F768L |
probably damaging |
Het |
Pde4b |
T |
A |
4: 102,458,836 (GRCm39) |
N497K |
probably damaging |
Het |
Plcl2 |
T |
A |
17: 50,914,383 (GRCm39) |
L464Q |
probably damaging |
Het |
Rfc3 |
A |
G |
5: 151,566,379 (GRCm39) |
*357R |
probably null |
Het |
Ryr2 |
A |
G |
13: 11,933,205 (GRCm39) |
S89P |
probably benign |
Het |
Sema3b |
C |
T |
9: 107,478,192 (GRCm39) |
V398I |
probably damaging |
Het |
Setd3 |
A |
G |
12: 108,074,814 (GRCm39) |
|
probably null |
Het |
Sgsh |
T |
C |
11: 119,237,384 (GRCm39) |
D410G |
probably damaging |
Het |
Slc9a3 |
G |
T |
13: 74,313,476 (GRCm39) |
E730* |
probably null |
Het |
Sptb |
A |
G |
12: 76,667,527 (GRCm39) |
S857P |
probably benign |
Het |
Tmem132c |
T |
C |
5: 127,640,154 (GRCm39) |
L775P |
probably damaging |
Het |
Togaram1 |
T |
C |
12: 65,039,400 (GRCm39) |
V1158A |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,607,222 (GRCm39) |
F17934L |
probably damaging |
Het |
Ube3b |
T |
C |
5: 114,542,778 (GRCm39) |
|
probably null |
Het |
Ydjc |
A |
G |
16: 16,965,469 (GRCm39) |
E111G |
possibly damaging |
Het |
Zp3r |
T |
A |
1: 130,510,588 (GRCm39) |
H443L |
probably benign |
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 |
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 |
2015-12-18 |