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) question?
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

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: 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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