Incidental Mutation 'IGL02008:Abcf1'
ID 183231
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abcf1
Ensembl Gene ENSMUSG00000038762
Gene Name ATP-binding cassette, sub-family F member 1
Synonyms Abc50, D17Wsu166e, GCN20
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # IGL02008
Quality Score
Status
Chromosome 17
Chromosomal Location 36267711-36280642 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36272954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 231 (E231G)
Ref Sequence ENSEMBL: ENSMUSP00000036881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043757] [ENSMUST00000172661] [ENSMUST00000174128]
AlphaFold Q6P542
Predicted Effect probably benign
Transcript: ENSMUST00000043757
AA Change: E231G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036881
Gene: ENSMUSG00000038762
AA Change: E231G

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 25 40 N/A INTRINSIC
coiled coil region 46 79 N/A INTRINSIC
low complexity region 173 208 N/A INTRINSIC
low complexity region 218 234 N/A INTRINSIC
low complexity region 247 255 N/A INTRINSIC
AAA 320 524 9e-10 SMART
low complexity region 529 554 N/A INTRINSIC
low complexity region 607 615 N/A INTRINSIC
AAA 642 807 1.11e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000087205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104738
Predicted Effect probably benign
Transcript: ENSMUST00000172661
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174834
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173125
Predicted Effect probably benign
Transcript: ENSMUST00000174128
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 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 GCN20 subfamily. Unlike other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display lethality shortly after implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,969,750 (GRCm39) T2252A probably benign Het
Abcc2 C T 19: 43,810,189 (GRCm39) probably benign Het
Astn2 T C 4: 65,977,390 (GRCm39) Y379C probably damaging Het
Atp8b1 G T 18: 64,671,766 (GRCm39) probably benign Het
Atr T A 9: 95,763,473 (GRCm39) probably benign Het
Bdp1 A G 13: 100,160,335 (GRCm39) S2349P possibly damaging Het
Bmp2 T C 2: 133,402,886 (GRCm39) S146P probably damaging Het
Cacna1c T C 6: 118,692,885 (GRCm39) S218G probably null Het
Cand2 T C 6: 115,780,599 (GRCm39) V1161A probably damaging Het
Clec16a T C 16: 10,398,824 (GRCm39) V330A probably damaging Het
Cpsf1 A T 15: 76,487,291 (GRCm39) V161D probably damaging Het
Ctsh A G 9: 89,943,600 (GRCm39) Y75C probably damaging Het
Cyp26c1 C A 19: 37,677,371 (GRCm39) L267M probably damaging Het
Cyp26c1 T A 19: 37,677,372 (GRCm39) L267Q probably damaging Het
Cyp2c50 G A 19: 40,079,543 (GRCm39) W212* probably null Het
Dnah5 T A 15: 28,343,698 (GRCm39) M2366K probably damaging Het
Ermp1 A G 19: 29,590,320 (GRCm39) M794T probably damaging Het
F11 G T 8: 45,703,132 (GRCm39) S186Y probably damaging Het
Fam184b A T 5: 45,690,165 (GRCm39) F815I possibly damaging Het
Fezf2 T C 14: 12,343,705 (GRCm38) I347V probably benign Het
Fip1l1 C T 5: 74,706,084 (GRCm39) T114I possibly damaging Het
Gbp7 A C 3: 142,252,211 (GRCm39) D598A probably benign Het
Gm1110 T A 9: 26,794,526 (GRCm39) D500V probably benign Het
Gm3248 T A 14: 5,943,928 (GRCm38) M99L probably benign Het
Gpi-ps A T 8: 5,689,896 (GRCm39) noncoding transcript Het
Hspa9 G A 18: 35,081,028 (GRCm39) R218* probably null Het
Ikbip G A 10: 90,929,119 (GRCm39) probably null Het
Kcnb2 C T 1: 15,781,033 (GRCm39) T635M probably benign Het
Krtap29-1 T A 11: 99,869,105 (GRCm39) I259F possibly damaging Het
Lnpep T C 17: 17,791,219 (GRCm39) T442A probably benign Het
Mgat1 T A 11: 49,151,562 (GRCm39) I15N probably damaging Het
Nlrp9c A T 7: 26,084,576 (GRCm39) S334R probably benign Het
Notch2 A T 3: 98,054,612 (GRCm39) D2425V probably damaging Het
Ntn1 C T 11: 68,104,089 (GRCm39) V520M probably damaging Het
Or10d1b A G 9: 39,613,549 (GRCm39) V172A probably damaging Het
Or4p18 T A 2: 88,232,421 (GRCm39) T286S possibly damaging Het
Or5d39 A T 2: 87,979,922 (GRCm39) V147E probably damaging Het
Or6c3b T A 10: 129,527,887 (GRCm39) T8S probably benign Het
Or8g55 A T 9: 39,784,781 (GRCm39) D70V probably damaging Het
Or8k39 A C 2: 86,563,521 (GRCm39) I145R possibly damaging Het
Osr2 A G 15: 35,302,138 (GRCm39) H246R probably damaging Het
Papolg T C 11: 23,829,898 (GRCm39) R224G probably damaging Het
Pax6 T A 2: 105,522,623 (GRCm39) probably null Het
Pcyox1 A G 6: 86,369,250 (GRCm39) V192A probably benign Het
Phf1 C T 17: 27,154,260 (GRCm39) A159V possibly damaging Het
Ppfia4 G A 1: 134,260,129 (GRCm39) R45W probably damaging Het
Psmb9 T A 17: 34,402,653 (GRCm39) K109M probably damaging Het
Ptprt T A 2: 161,769,593 (GRCm39) Y424F probably benign Het
Ptrh2 A G 11: 86,580,592 (GRCm39) I70V probably benign Het
Rnf213 G A 11: 119,309,135 (GRCm39) probably benign Het
Rom1 T A 19: 8,905,368 (GRCm39) I271F probably benign Het
Satb2 T A 1: 56,835,952 (GRCm39) D731V possibly damaging Het
Serpinb7 G T 1: 107,375,859 (GRCm39) G159V possibly damaging Het
Slit1 T C 19: 41,634,579 (GRCm39) I393V probably damaging Het
Spata20 T A 11: 94,374,289 (GRCm39) D327V probably damaging Het
Spata31e3 G A 13: 50,400,721 (GRCm39) P535L probably benign Het
Spmap2l A T 5: 77,208,605 (GRCm39) I378L probably benign Het
Tbc1d32 G T 10: 56,027,871 (GRCm39) Q744K possibly damaging Het
Tmem108 G T 9: 103,366,439 (GRCm39) N517K possibly damaging Het
Trp63 T A 16: 25,681,211 (GRCm39) N160K probably damaging Het
Ttll5 T C 12: 85,980,385 (GRCm39) S119P probably damaging Het
Ubqln3 T A 7: 103,791,523 (GRCm39) Q189L probably damaging Het
Vwa5a G A 9: 38,649,072 (GRCm39) R638H probably benign Het
Wdr3 A G 3: 100,058,298 (GRCm39) S436P probably damaging Het
Zfp975 A T 7: 42,312,215 (GRCm39) C133S probably damaging Het
Zfp976 A T 7: 42,263,656 (GRCm39) probably benign Het
Zmiz1 A G 14: 25,657,303 (GRCm39) M860V probably damaging Het
Zscan4d T C 7: 10,896,296 (GRCm39) E358G probably benign Het
Other mutations in Abcf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01405:Abcf1 APN 17 36,274,902 (GRCm39) missense probably damaging 1.00
IGL02209:Abcf1 APN 17 36,274,901 (GRCm39) missense probably damaging 0.99
IGL02218:Abcf1 APN 17 36,269,230 (GRCm39) missense probably benign 0.00
IGL02455:Abcf1 APN 17 36,271,021 (GRCm39) missense probably damaging 1.00
IGL03238:Abcf1 APN 17 36,274,215 (GRCm39) missense probably damaging 0.99
bamboo UTSW 17 36,268,954 (GRCm39) splice site probably benign
IGL02837:Abcf1 UTSW 17 36,268,473 (GRCm39) missense probably benign
R0007:Abcf1 UTSW 17 36,270,562 (GRCm39) missense probably damaging 0.99
R0078:Abcf1 UTSW 17 36,268,954 (GRCm39) splice site probably benign
R0617:Abcf1 UTSW 17 36,272,079 (GRCm39) missense probably benign 0.00
R0655:Abcf1 UTSW 17 36,268,737 (GRCm39) missense probably benign 0.20
R1421:Abcf1 UTSW 17 36,271,801 (GRCm39) missense probably damaging 1.00
R1879:Abcf1 UTSW 17 36,272,704 (GRCm39) missense probably benign 0.13
R3433:Abcf1 UTSW 17 36,269,109 (GRCm39) missense probably benign 0.36
R3915:Abcf1 UTSW 17 36,270,402 (GRCm39) missense possibly damaging 0.46
R4056:Abcf1 UTSW 17 36,270,807 (GRCm39) missense possibly damaging 0.90
R4057:Abcf1 UTSW 17 36,270,807 (GRCm39) missense possibly damaging 0.90
R4114:Abcf1 UTSW 17 36,270,146 (GRCm39) missense probably benign 0.25
R4709:Abcf1 UTSW 17 36,271,069 (GRCm39) missense probably damaging 1.00
R4722:Abcf1 UTSW 17 36,268,933 (GRCm39) intron probably benign
R4932:Abcf1 UTSW 17 36,270,342 (GRCm39) missense possibly damaging 0.62
R5129:Abcf1 UTSW 17 36,271,687 (GRCm39) unclassified probably benign
R5255:Abcf1 UTSW 17 36,270,629 (GRCm39) splice site probably null
R5517:Abcf1 UTSW 17 36,269,233 (GRCm39) missense possibly damaging 0.48
R5518:Abcf1 UTSW 17 36,269,233 (GRCm39) missense possibly damaging 0.48
R5660:Abcf1 UTSW 17 36,274,539 (GRCm39) missense possibly damaging 0.87
R5836:Abcf1 UTSW 17 36,272,918 (GRCm39) missense possibly damaging 0.77
R6193:Abcf1 UTSW 17 36,274,464 (GRCm39) missense possibly damaging 0.77
R6247:Abcf1 UTSW 17 36,271,956 (GRCm39) missense probably damaging 1.00
R6257:Abcf1 UTSW 17 36,272,074 (GRCm39) missense probably benign 0.10
R6876:Abcf1 UTSW 17 36,270,136 (GRCm39) missense probably benign 0.45
R7095:Abcf1 UTSW 17 36,268,403 (GRCm39) missense possibly damaging 0.81
R7134:Abcf1 UTSW 17 36,270,144 (GRCm39) missense possibly damaging 0.90
R7475:Abcf1 UTSW 17 36,274,459 (GRCm39) critical splice donor site probably null
R7843:Abcf1 UTSW 17 36,270,135 (GRCm39) missense possibly damaging 0.89
R7867:Abcf1 UTSW 17 36,272,890 (GRCm39) missense probably damaging 0.99
R8228:Abcf1 UTSW 17 36,271,933 (GRCm39) critical splice donor site probably null
R9266:Abcf1 UTSW 17 36,270,178 (GRCm39) nonsense probably null
R9310:Abcf1 UTSW 17 36,272,621 (GRCm39) missense probably null 0.16
RF037:Abcf1 UTSW 17 36,274,080 (GRCm39) unclassified probably benign
RF038:Abcf1 UTSW 17 36,274,093 (GRCm39) unclassified probably benign
RF041:Abcf1 UTSW 17 36,274,093 (GRCm39) unclassified probably benign
Posted On 2014-05-07