Incidental Mutation 'R1871:Abce1'
ID 210741
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 039893-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1871 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 80410091-80438369 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 80411897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 588 (Q588*)
Ref Sequence ENSEMBL: ENSMUSP00000079379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080536]
AlphaFold P61222
Predicted Effect probably null
Transcript: ENSMUST00000080536
AA Change: Q588*
SMART Domains Protein: ENSMUSP00000079379
Gene: ENSMUSG00000058355
AA Change: Q588*

DomainStartEndE-ValueType
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: ENSMUST00000178097
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211509
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.2%
Validation Efficiency 97% (87/90)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930009A15Rik A G 10: 115,415,699 (GRCm39) probably null Het
Abca13 A T 11: 9,242,134 (GRCm39) E1332D probably benign Het
Acads A T 5: 115,255,701 (GRCm39) C45S probably damaging Het
Adam34l A T 8: 44,078,132 (GRCm39) Y697* probably null Het
Adamts12 T C 15: 11,311,240 (GRCm39) S1166P probably benign Het
Ano4 T A 10: 88,828,889 (GRCm39) I517F probably damaging Het
Arpc1a T A 5: 145,043,901 (GRCm39) C344S possibly damaging Het
Blk A T 14: 63,613,364 (GRCm39) S381R possibly damaging Het
Capn15 C A 17: 26,183,203 (GRCm39) W426L probably damaging Het
Chd6 T C 2: 160,832,176 (GRCm39) T999A probably damaging Het
Clca3a2 A G 3: 144,503,398 (GRCm39) Y851H probably benign Het
Crp T A 1: 172,526,172 (GRCm39) W86R possibly damaging Het
Ctnnal1 G A 4: 56,812,534 (GRCm39) L705F probably benign Het
Cyp2c66 A G 19: 39,151,858 (GRCm39) D191G possibly damaging Het
Cyp4f37 A G 17: 32,853,639 (GRCm39) D441G probably damaging Het
D130040H23Rik T A 8: 69,755,354 (GRCm39) I253N probably benign Het
Dnah5 T A 15: 28,331,859 (GRCm39) Y2148* probably null Het
Eef1g A T 19: 8,955,330 (GRCm39) D393V possibly damaging Het
Elapor2 A G 5: 9,468,007 (GRCm39) E225G probably damaging Het
Ephx2 A T 14: 66,322,183 (GRCm39) I538N probably damaging Het
Fat4 T A 3: 39,035,221 (GRCm39) S2958T possibly damaging Het
Foxi1 A T 11: 34,157,937 (GRCm39) N29K possibly damaging Het
Gm10287 G T 3: 148,930,373 (GRCm39) noncoding transcript Het
Gm10801 G T 2: 98,494,185 (GRCm39) S109I probably benign Het
Gmcl1 T C 6: 86,674,498 (GRCm39) D460G probably benign Het
Gpr158 A G 2: 21,820,426 (GRCm39) D641G probably damaging Het
Heph C A X: 95,542,690 (GRCm39) S561Y probably benign Het
Hgfac A G 5: 35,200,257 (GRCm39) *90W probably null Het
Hp1bp3 C G 4: 137,949,497 (GRCm39) P65R probably damaging Het
Ighv6-4 T A 12: 114,370,221 (GRCm39) Y58F probably benign Het
Jrk T C 15: 74,578,412 (GRCm39) D291G possibly damaging Het
Kdm4d A G 9: 14,375,679 (GRCm39) Y60H probably damaging Het
Khdrbs3 T C 15: 68,921,291 (GRCm39) Y203H probably damaging Het
Klhl6 A T 16: 19,775,793 (GRCm39) V255D possibly damaging Het
Krt9 C T 11: 100,081,614 (GRCm39) R305H probably damaging Het
Lama2 T G 10: 26,860,490 (GRCm39) N2999T probably damaging Het
Letm2 A G 8: 26,086,460 (GRCm39) probably benign Het
Lipa A T 19: 34,488,328 (GRCm39) L106Q probably damaging Het
Llph A T 10: 120,067,141 (GRCm39) N86I probably damaging Het
Lyst T A 13: 13,826,297 (GRCm39) N1601K probably benign Het
Mc1r T A 8: 124,134,275 (GRCm39) S9R probably benign Het
Mfsd14a A G 3: 116,434,969 (GRCm39) I249T probably benign Het
Mtfp1 G A 11: 4,044,012 (GRCm39) R73C probably benign Het
Myo1a A G 10: 127,555,540 (GRCm39) Q877R probably benign Het
Nalcn A C 14: 123,831,965 (GRCm39) V103G possibly damaging Het
Ndst3 A T 3: 123,355,673 (GRCm39) F119I probably damaging Het
Or8k16 A G 2: 85,520,655 (GRCm39) N294S probably damaging Het
Patl1 T C 19: 11,902,596 (GRCm39) probably benign Het
Pcdhb2 A T 18: 37,430,408 (GRCm39) probably null Het
Pcdhb22 A C 18: 37,652,200 (GRCm39) T223P probably damaging Het
Pcdhga1 T A 18: 37,973,143 (GRCm39) N907K probably damaging Het
Pfas T C 11: 68,882,795 (GRCm39) D782G probably damaging Het
Plpp6 T C 19: 28,941,684 (GRCm39) F95S probably damaging Het
Polr2b T A 5: 77,474,374 (GRCm39) probably benign Het
Qars1 T G 9: 108,391,315 (GRCm39) probably null Het
Ranbp2 A G 10: 58,328,383 (GRCm39) I2800V probably damaging Het
Rnf213 T C 11: 119,340,955 (GRCm39) V3532A probably benign Het
Rubcnl T C 14: 75,279,849 (GRCm39) S411P possibly damaging Het
Scn1a C A 2: 66,148,369 (GRCm39) G1059W probably damaging Het
Sgms1 C T 19: 32,137,282 (GRCm39) V95I probably benign Het
Siglecf A G 7: 43,004,967 (GRCm39) N399S probably benign Het
Slc29a4 T C 5: 142,707,243 (GRCm39) *529R probably null Het
Slfn9 G T 11: 82,872,402 (GRCm39) T778N probably benign Het
Sorl1 G A 9: 41,881,021 (GRCm39) Q2167* probably null Het
Stkld1 A G 2: 26,827,985 (GRCm39) probably benign Het
Taar8b T C 10: 23,967,900 (GRCm39) Y98C probably damaging Het
Tecta G A 9: 42,248,472 (GRCm39) L1977F probably damaging Het
Tecta G C 9: 42,248,636 (GRCm39) T1917R probably damaging Het
Topaz1 T A 9: 122,628,544 (GRCm39) S1544T probably benign Het
Tpx2 T C 2: 152,735,523 (GRCm39) I717T probably damaging Het
Tyk2 A T 9: 21,032,737 (GRCm39) V342E probably damaging Het
Ube4a A T 9: 44,856,235 (GRCm39) probably null Het
Unc80 A T 1: 66,549,876 (GRCm39) R711S possibly damaging Het
Ush2a C A 1: 188,558,665 (GRCm39) D3631E probably benign Het
Usp34 A G 11: 23,314,479 (GRCm39) H807R probably benign Het
Vps13a T C 19: 16,642,028 (GRCm39) T2200A probably benign Het
Wif1 A G 10: 120,920,824 (GRCm39) I215M probably benign Het
Wnk1 T C 6: 119,928,050 (GRCm39) T1134A probably damaging Het
Xxylt1 A G 16: 30,776,235 (GRCm39) V367A probably damaging Het
Zfp735 A T 11: 73,601,412 (GRCm39) K119* probably null 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
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
Predicted Primers PCR Primer
(F):5'- CATGTTCATGTAGTATGCACAGAG -3'
(R):5'- TTCAAGCTGACAATCTGTTGC -3'

Sequencing Primer
(F):5'- CATGTAGTATGCACAGAGGTTTAATC -3'
(R):5'- CAATCTGTTGCCTTTTGTACCAGGAG -3'
Posted On 2014-06-30