Incidental Mutation 'R4642:Abce1'
| ID |
351684 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abce1
|
| Ensembl Gene |
ENSMUSG00000058355 |
| Gene Name |
ATP-binding cassette, sub-family E member 1 |
| Synonyms |
RNS4l (Eye), Rnaseli, Oabp |
| MMRRC Submission |
041904-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4642 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
80410091-80438369 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80415982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 387
(T387A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080536]
|
| AlphaFold |
P61222 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080536
AA Change: T387A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079379
Gene: ENSMUSG00000058355
AA Change: T387A
| 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
|
| Meta Mutation Damage Score |
0.9408 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
96% (46/48) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
T |
11: 84,171,287 (GRCm39) |
T3S |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Cacna1g |
A |
G |
11: 94,308,920 (GRCm39) |
I1631T |
probably damaging |
Het |
| Camk1g |
T |
A |
1: 193,038,667 (GRCm39) |
D85V |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
| Ccbe1 |
A |
T |
18: 66,424,654 (GRCm39) |
|
probably benign |
Het |
| Ccdc184 |
T |
G |
15: 98,066,537 (GRCm39) |
V114G |
probably benign |
Het |
| Cpxm2 |
C |
T |
7: 131,672,610 (GRCm39) |
R313H |
probably benign |
Het |
| Crebrf |
G |
T |
17: 26,962,035 (GRCm39) |
E377D |
probably benign |
Het |
| Dcstamp |
T |
C |
15: 39,618,118 (GRCm39) |
F176L |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,387,385 (GRCm39) |
D947G |
probably benign |
Het |
| Erbb4 |
A |
G |
1: 68,289,791 (GRCm39) |
I750T |
probably damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gm16391 |
T |
G |
17: 76,591,826 (GRCm39) |
|
noncoding transcript |
Het |
| Gm973 |
A |
T |
1: 59,597,273 (GRCm39) |
E434D |
probably damaging |
Het |
| Hdac7 |
T |
C |
15: 97,704,397 (GRCm39) |
E491G |
probably damaging |
Het |
| Hyal5 |
A |
G |
6: 24,876,621 (GRCm39) |
N165D |
probably benign |
Het |
| Ly86 |
A |
T |
13: 37,560,877 (GRCm39) |
R79S |
possibly damaging |
Het |
| Mapk7 |
A |
G |
11: 61,381,727 (GRCm39) |
I13T |
probably damaging |
Het |
| Medag |
T |
A |
5: 149,335,444 (GRCm39) |
M1K |
probably null |
Het |
| Myh9 |
T |
C |
15: 77,646,151 (GRCm39) |
D1944G |
probably benign |
Het |
| Nadk2 |
T |
C |
15: 9,092,810 (GRCm39) |
W206R |
possibly damaging |
Het |
| Or7g18 |
T |
A |
9: 18,787,463 (GRCm39) |
M280K |
probably damaging |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,021 (GRCm39) |
F117Y |
probably benign |
Het |
| Pdzd8 |
C |
T |
19: 59,293,662 (GRCm39) |
E396K |
probably damaging |
Het |
| Piezo1 |
T |
A |
8: 123,222,193 (GRCm39) |
Y541F |
probably damaging |
Het |
| Polr3h |
T |
C |
15: 81,806,667 (GRCm39) |
I51V |
probably benign |
Het |
| Prune2 |
T |
C |
19: 16,998,019 (GRCm39) |
|
probably null |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Rars2 |
T |
G |
4: 34,656,229 (GRCm39) |
V461G |
probably damaging |
Het |
| Rasgrp3 |
T |
C |
17: 75,805,443 (GRCm39) |
C145R |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,785,463 (GRCm39) |
T1743A |
possibly damaging |
Het |
| Sac3d1 |
G |
A |
19: 6,166,434 (GRCm39) |
A325V |
possibly damaging |
Het |
| Shank1 |
A |
T |
7: 43,962,565 (GRCm39) |
D93V |
unknown |
Het |
| Smg1 |
T |
C |
7: 117,753,487 (GRCm39) |
|
probably benign |
Het |
| Tbl1xr1 |
A |
T |
3: 22,242,584 (GRCm39) |
N38I |
probably damaging |
Het |
| Ufc1 |
A |
G |
1: 171,117,467 (GRCm39) |
I82T |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,272,347 (GRCm39) |
M434K |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,710,873 (GRCm39) |
|
probably null |
Het |
| Zan |
T |
A |
5: 137,462,450 (GRCm39) |
T910S |
unknown |
Het |
| Zfp64 |
A |
G |
2: 168,776,851 (GRCm39) |
C256R |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAACTGGCACTTCTCCTGC -3'
(R):5'- TGGTACCCTTAAACTGTGTGATAAC -3'
Sequencing Primer
(F):5'- TGGCACTTCTCCTGCAAAAC -3'
(R):5'- CTGTGTGATAACTGAAACAAATGCAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation