Incidental Mutation 'R5666:Abce1'
ID 444431
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 043309-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5666 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 80410091-80438369 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 80416906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 368 (E368D)
Ref Sequence ENSEMBL: ENSMUSP00000079379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080536]
AlphaFold P61222
Predicted Effect probably benign
Transcript: ENSMUST00000080536
AA Change: E368D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000079379
Gene: ENSMUSG00000058355
AA Change: E368D

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
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930524J08Rik T C 5: 100,127,068 (GRCm39) probably benign Het
Becn2 C T 1: 175,749,179 (GRCm39) T415M probably damaging Het
Bmper T A 9: 23,384,759 (GRCm39) M588K probably damaging Het
Bop1 T C 15: 76,338,433 (GRCm39) E503G probably benign Het
Btla A T 16: 45,070,782 (GRCm39) D247V probably damaging Het
Cap2 T A 13: 46,684,559 (GRCm39) probably null Het
Chd2 A T 7: 73,091,465 (GRCm39) I1592K probably benign Het
Chd3 T C 11: 69,244,177 (GRCm39) E1202G possibly damaging Het
Cmya5 T C 13: 93,182,457 (GRCm39) I3568V possibly damaging Het
Col4a4 A G 1: 82,463,300 (GRCm39) probably null Het
Cpxm2 C T 7: 131,656,625 (GRCm39) E546K probably benign Het
Cyp2j5 C T 4: 96,546,930 (GRCm39) V195I probably benign Het
Ddb2 C T 2: 91,042,926 (GRCm39) V353M probably damaging Het
Dscam G A 16: 96,519,364 (GRCm39) T791I probably benign Het
Dtd2 T A 12: 52,046,643 (GRCm39) L65F probably damaging Het
E2f1 T A 2: 154,411,101 (GRCm39) probably benign Het
Ephb3 A G 16: 21,041,241 (GRCm39) N732S probably benign Het
Fkbp10 G T 11: 100,314,352 (GRCm39) W384L probably damaging Het
Foxm1 C T 6: 128,350,130 (GRCm39) S339L possibly damaging Het
Fzd6 A T 15: 38,894,510 (GRCm39) R225S probably benign Het
Gfpt1 A T 6: 87,030,795 (GRCm39) I60F possibly damaging Het
Glce A G 9: 61,967,793 (GRCm39) S453P probably damaging Het
Gm4787 G A 12: 81,424,805 (GRCm39) T451I probably benign Het
Hs2st1 A T 3: 144,275,554 (GRCm39) V22E probably damaging Het
Hspa9 T C 18: 35,087,300 (GRCm39) I2V probably null Het
Ikzf2 A G 1: 69,617,059 (GRCm39) V96A probably benign Het
Ilkap T C 1: 91,318,863 (GRCm39) T38A probably benign Het
Lpin3 A G 2: 160,739,250 (GRCm39) T353A probably benign Het
Myh1 T A 11: 67,112,178 (GRCm39) I1744N probably benign Het
Nadsyn1 C T 7: 143,361,168 (GRCm39) G335S probably damaging Het
Ndc1 T C 4: 107,246,723 (GRCm39) V382A possibly damaging Het
Ndufaf4 A T 4: 24,898,636 (GRCm39) D64V probably damaging Het
Nfe2l2 T C 2: 75,507,462 (GRCm39) T213A probably benign Het
Nkain4 A G 2: 180,584,995 (GRCm39) L73P probably damaging Het
Nmt1 C T 11: 102,949,041 (GRCm39) R299* probably null Het
Or1j20 T A 2: 36,760,401 (GRCm39) D274E probably benign Het
Or2y8 A C 11: 52,035,525 (GRCm39) Y277* probably null Het
Or4b12 T C 2: 90,096,308 (GRCm39) I155M probably benign Het
Or5k1 G A 16: 58,617,424 (GRCm39) P262S possibly damaging Het
Padi2 G T 4: 140,676,542 (GRCm39) R560L possibly damaging Het
Palmd T C 3: 116,717,750 (GRCm39) N249S possibly damaging Het
Pde1c A C 6: 56,103,842 (GRCm39) probably null Het
Pdgfra T C 5: 75,334,156 (GRCm39) S410P probably benign Het
Phldb1 T C 9: 44,627,078 (GRCm39) M456V probably damaging Het
Pla2g2d T A 4: 138,507,591 (GRCm39) C82S probably damaging Het
Rgs21 A G 1: 144,412,680 (GRCm39) V48A probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Slc4a2 G T 5: 24,639,836 (GRCm39) V506L probably damaging Het
Slc7a4 A G 16: 17,393,815 (GRCm39) probably benign Het
Sptbn5 C G 2: 119,916,048 (GRCm39) probably benign Het
Sstr2 T A 11: 113,515,539 (GRCm39) W153R probably damaging Het
Steap2 C T 5: 5,723,681 (GRCm39) V400I probably benign Het
Syne2 G A 12: 75,997,733 (GRCm39) G2236D probably benign Het
Tas2r130 T C 6: 131,607,342 (GRCm39) N151S possibly damaging Het
Tex52 T C 6: 128,352,518 (GRCm39) S13P probably benign Het
Tmprss13 A G 9: 45,256,253 (GRCm39) I456V probably damaging Het
Trim24 T C 6: 37,942,536 (GRCm39) F946S probably benign Het
Vmn2r10 A T 5: 109,146,910 (GRCm39) Y459* probably null Het
Vwa1 A G 4: 155,858,922 (GRCm39) L13P probably damaging Het
Zfp648 C A 1: 154,079,963 (GRCm39) Q41K probably benign Het
Other mutations in Abce1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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

Sequencing Primer
Posted On 2016-11-09