Incidental Mutation 'R5255:Abcf1'
ID 399538
Institutional Source Beutler Lab
Gene Symbol Abcf1
Ensembl Gene ENSMUSG00000038762
Gene Name ATP-binding cassette, sub-family F member 1
Synonyms Abc50, D17Wsu166e, GCN20
MMRRC Submission 042826-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R5255 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 36267711-36280642 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 36270629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000036881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043757] [ENSMUST00000172661] [ENSMUST00000174128]
AlphaFold Q6P542
Predicted Effect probably null
Transcript: ENSMUST00000043757
SMART Domains Protein: ENSMUSP00000036881
Gene: ENSMUSG00000038762

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: ENSMUST00000173125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174834
Predicted Effect probably benign
Transcript: ENSMUST00000174128
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr T A 11: 76,346,509 (GRCm39) E434V probably damaging Het
Acaca T A 11: 84,202,133 (GRCm39) L197Q probably damaging Het
Acot10 A G 15: 20,666,018 (GRCm39) I241T probably benign Het
Acp6 T C 3: 97,075,312 (GRCm39) V182A probably benign Het
Ahnak2 G A 12: 112,739,812 (GRCm39) T1420I possibly damaging Het
Akr1c6 A T 13: 4,497,018 (GRCm39) K153N probably benign Het
Ank3 T C 10: 69,721,030 (GRCm39) L600P probably damaging Het
Arhgef1 G A 7: 24,624,447 (GRCm39) A824T probably damaging Het
B230307C23Rik T A 16: 97,809,891 (GRCm39) N22K possibly damaging Het
Btn1a1 A G 13: 23,648,324 (GRCm39) probably benign Het
Cenpf G A 1: 189,404,824 (GRCm39) T352I possibly damaging Het
Ces4a C A 8: 105,869,121 (GRCm39) F185L probably benign Het
Clybl A C 14: 122,621,691 (GRCm39) E293A probably benign Het
Cobl A G 11: 12,325,825 (GRCm39) W217R probably damaging Het
D430041D05Rik T C 2: 104,086,945 (GRCm39) N677S probably benign Het
Ddx51 C A 5: 110,803,908 (GRCm39) T390N possibly damaging Het
Drd5 T G 5: 38,477,310 (GRCm39) V101G probably damaging Het
Elmo3 C T 8: 106,033,985 (GRCm39) P244L probably benign Het
Esrrg G A 1: 187,878,555 (GRCm39) R189H probably damaging Het
Fxr2 A G 11: 69,534,667 (GRCm39) T183A probably benign Het
Gjd4 T C 18: 9,280,613 (GRCm39) H155R probably benign Het
Hivep2 T A 10: 14,007,011 (GRCm39) probably null Het
Ints10 T C 8: 69,246,624 (GRCm39) probably benign Het
Kank4 T C 4: 98,667,209 (GRCm39) T413A probably benign Het
Mapkbp1 T C 2: 119,847,735 (GRCm39) V568A probably damaging Het
Mobp A G 9: 119,997,419 (GRCm39) probably benign Het
Mpst A G 15: 78,294,708 (GRCm39) S147G probably benign Het
Myo5b A T 18: 74,795,741 (GRCm39) Y559F possibly damaging Het
Nceh1 T C 3: 27,237,288 (GRCm39) I21T probably damaging Het
Or4f7 T C 2: 111,644,523 (GRCm39) K183E probably benign Het
Phf8-ps A T 17: 33,285,739 (GRCm39) C354* probably null Het
Ralgps1 A T 2: 33,166,171 (GRCm39) V126E probably damaging Het
Rnls A G 19: 33,359,823 (GRCm39) V115A probably damaging Het
Scn1a A T 2: 66,108,013 (GRCm39) V1554D probably damaging Het
Slc16a11 T A 11: 70,106,258 (GRCm39) D165E probably damaging Het
Slc16a5 A G 11: 115,353,501 (GRCm39) T23A probably benign Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc3a1 A T 17: 85,335,881 (GRCm39) probably null Het
Slitrk6 A T 14: 110,987,185 (GRCm39) *841K probably null Het
Syngr1 A G 15: 79,975,647 (GRCm39) Y18C possibly damaging Het
Tarbp1 T G 8: 127,155,709 (GRCm39) D1343A probably benign Het
Vac14 T A 8: 111,360,961 (GRCm39) I177N probably damaging Het
Vmn1r218 A T 13: 23,320,881 (GRCm39) D76V possibly damaging Het
Wdr75 T A 1: 45,838,277 (GRCm39) I62N probably damaging Het
Zfp12 A T 5: 143,226,134 (GRCm39) I68L probably null Het
Zswim8 T A 14: 20,771,719 (GRCm39) Y1551N probably damaging Het
Other mutations in Abcf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01405:Abcf1 APN 17 36,274,902 (GRCm39) missense probably damaging 1.00
IGL02008:Abcf1 APN 17 36,272,954 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TGCTGTTTTCGAGTCAGGAC -3'
(R):5'- GACGTTGCTGATTGTCTCCC -3'

Sequencing Primer
(F):5'- TTCGAGTCAGGACTTCCTTTG -3'
(R):5'- GGATGACGTTTGCACTGATATCATCC -3'
Posted On 2016-07-06