Incidental Mutation 'R5129:Abcf1'
ID 394930
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 042717-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R5129 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 36267711-36280642 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 36271687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043757] [ENSMUST00000172661] [ENSMUST00000174128]
AlphaFold Q6P542
Predicted Effect probably benign
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: ENSMUST00000174834
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173125
Predicted Effect probably benign
Transcript: ENSMUST00000174128
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 98% (51/52)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A G 7: 29,260,786 (GRCm39) noncoding transcript Het
Adamts14 T A 10: 61,085,397 (GRCm39) D209V probably benign Het
Aldh3b1 A G 19: 3,965,336 (GRCm39) F392L probably benign Het
Atp1a2 A T 1: 172,103,522 (GRCm39) D999E probably benign Het
Capn7 T C 14: 31,066,468 (GRCm39) V94A probably damaging Het
Cdh13 A G 8: 119,821,954 (GRCm39) D271G probably damaging Het
Cntnap5b G A 1: 100,306,815 (GRCm39) G844D probably damaging Het
Col6a4 T C 9: 105,890,576 (GRCm39) E1906G probably damaging Het
Daw1 T C 1: 83,183,624 (GRCm39) Y225H probably damaging Het
Dvl3 T A 16: 20,336,090 (GRCm39) M49K possibly damaging Het
Eef1b2 T G 1: 63,218,739 (GRCm39) S175A probably damaging Het
Epb41l1 A T 2: 156,351,201 (GRCm39) Y425F possibly damaging Het
Fam43b A T 4: 138,122,783 (GRCm39) L179* probably null Het
Fbxw28 A G 9: 109,155,671 (GRCm39) L314P probably damaging Het
Fstl4 C A 11: 53,077,266 (GRCm39) D674E probably damaging Het
G3bp1 T C 11: 55,379,942 (GRCm39) V92A possibly damaging Het
Gm3604 A T 13: 62,517,588 (GRCm39) Y257N probably benign Het
Gm5900 A G 7: 104,599,223 (GRCm39) noncoding transcript Het
Hectd4 G A 5: 121,481,573 (GRCm39) V3041M possibly damaging Het
Hivep2 A G 10: 14,006,608 (GRCm39) K1069E probably damaging Het
Hlf T C 11: 90,281,078 (GRCm39) D38G probably benign Het
Hsd3b7 C A 7: 127,400,306 (GRCm39) C18* probably null Het
Kdm5a T C 6: 120,381,983 (GRCm39) C676R probably damaging Het
Klhdc7b A G 15: 89,272,751 (GRCm39) Y1211C probably damaging Het
Krt78 C A 15: 101,856,015 (GRCm39) V599L possibly damaging Het
Mroh9 C G 1: 162,888,329 (GRCm39) G249R probably damaging Het
Nbas T C 12: 13,440,961 (GRCm39) L1097P probably damaging Het
Nf2 A C 11: 4,766,145 (GRCm39) D87E probably benign Het
Or10d4c T A 9: 39,558,790 (GRCm39) I256N probably benign Het
Or14j2 T C 17: 37,886,071 (GRCm39) Y81C probably damaging Het
Ppil3 A G 1: 58,479,992 (GRCm39) probably benign Het
Prrc2a T C 17: 35,379,154 (GRCm39) E276G unknown Het
Semp2l1 C A 1: 32,584,560 (GRCm39) R450M probably damaging Het
Semp2l1 T A 1: 32,584,561 (GRCm39) R450W probably damaging Het
Spata16 A G 3: 26,721,713 (GRCm39) E78G probably damaging Het
Tlr3 A T 8: 45,856,018 (GRCm39) I54K probably damaging Het
Tmem72 A G 6: 116,678,974 (GRCm39) L34P probably damaging Het
Triobp A G 15: 78,845,296 (GRCm39) R213G probably benign Het
Tyrp1 T A 4: 80,764,844 (GRCm39) V7D probably damaging Het
Uhrf2 A G 19: 30,052,621 (GRCm39) I372V probably benign Het
Uty T C Y: 1,158,592 (GRCm39) T484A probably benign Het
Vcan T C 13: 89,838,359 (GRCm39) D2395G probably damaging Het
Vmn1r225 T A 17: 20,723,378 (GRCm39) I273N probably damaging Het
Zfp451 C T 1: 33,842,014 (GRCm39) probably benign Het
Zfp457 T C 13: 67,441,420 (GRCm39) E385G probably benign Het
Zfp74 C T 7: 29,631,880 (GRCm39) M121I probably benign Het
Zfp866 A T 8: 70,220,359 (GRCm39) probably null Het
Zfp874a A T 13: 67,591,100 (GRCm39) C195S 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
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
Predicted Primers PCR Primer
(F):5'- GAACTTCTGTGTGGGCCGATTC -3'
(R):5'- ACATTGACGTGCTGCTGTG -3'

Sequencing Primer
(F):5'- ATTCTGCATCTCAGGGTCGAAGC -3'
(R):5'- CAGGTGGGACTGGCATTGAC -3'
Posted On 2016-06-21