Incidental Mutation 'R7475:Abcf1'
ID 579452
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 045549-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R7475 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 36267711-36280642 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 36274459 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 probably benign
Transcript: ENSMUST00000172661
Predicted Effect probably benign
Transcript: ENSMUST00000174128
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (77/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G T 16: 20,218,739 (GRCm39) N214K probably benign Het
Agxt2 A T 15: 10,409,623 (GRCm39) M508L probably benign Het
Akr1c21 A T 13: 4,626,318 (GRCm39) Y114F probably benign Het
Amz1 T C 5: 140,729,941 (GRCm39) probably null Het
Ank1 G T 8: 23,622,646 (GRCm39) A1732S probably benign Het
Atg16l1 T C 1: 87,687,805 (GRCm39) S50P possibly damaging Het
AW551984 A G 9: 39,509,236 (GRCm39) S302P probably damaging Het
Ccn6 T A 10: 39,034,296 (GRCm39) Y102F probably damaging Het
Ces3a T A 8: 105,780,322 (GRCm39) probably null Het
Dedd C A 1: 171,167,881 (GRCm39) P185Q probably benign Het
Fam186a A T 15: 99,845,395 (GRCm39) V283E unknown Het
Fat2 C A 11: 55,194,479 (GRCm39) V1187F probably benign Het
Fbxw11 T C 11: 32,661,999 (GRCm39) probably null Het
Fcgbp C T 7: 27,802,401 (GRCm39) T1443I probably damaging Het
Foxj2 A G 6: 122,814,801 (GRCm39) D279G probably benign Het
Gbp5 A G 3: 142,207,122 (GRCm39) D97G probably damaging Het
Gm49368 A T 7: 127,707,154 (GRCm39) T661S possibly damaging Het
Gria4 T G 9: 4,513,330 (GRCm39) T260P probably damaging Het
Gtf2ird2 T A 5: 134,230,267 (GRCm39) D195E possibly damaging Het
Hectd4 T A 5: 121,496,196 (GRCm39) probably null Het
Ifngr2 G A 16: 91,354,797 (GRCm39) C32Y unknown Het
Ikzf5 A T 7: 130,993,788 (GRCm39) C280S probably benign Het
Ints9 G T 14: 65,263,914 (GRCm39) E395D probably null Het
Isoc2b T C 7: 4,854,084 (GRCm39) D96G probably benign Het
Jmjd1c T G 10: 67,061,092 (GRCm39) S967R probably benign Het
Kcnj3 A T 2: 55,327,338 (GRCm39) K42N probably benign Het
Kiz T C 2: 146,733,006 (GRCm39) V394A possibly damaging Het
Knl1 A T 2: 118,918,027 (GRCm39) H1795L probably damaging Het
Lmntd2 A G 7: 140,790,602 (GRCm39) probably null Het
Loxhd1 C A 18: 77,500,001 (GRCm39) D1690E possibly damaging Het
Lrp1b T C 2: 41,234,588 (GRCm39) D1121G Het
Map3k2 T C 18: 32,333,015 (GRCm39) V63A possibly damaging Het
Mcc G T 18: 44,609,303 (GRCm39) A499D probably damaging Het
Mcpt9 T A 14: 56,264,400 (GRCm39) I232F probably damaging Het
Meltf A G 16: 31,700,756 (GRCm39) K92R probably benign Het
Mff T A 1: 82,723,159 (GRCm39) probably null Het
Mrgpra3 T A 7: 47,239,695 (GRCm39) Y77F probably damaging Het
Mylk G A 16: 34,734,446 (GRCm39) probably null Het
Ndufv2 A G 17: 66,394,532 (GRCm39) V111A possibly damaging Het
Nkd2 T C 13: 73,973,861 (GRCm39) E99G probably damaging Het
Nlk C A 11: 78,474,225 (GRCm39) G358V probably damaging Het
Nnmt A T 9: 48,503,532 (GRCm39) C165S probably damaging Het
Nxpe4 T A 9: 48,304,640 (GRCm39) C242* probably null Het
Oas1b A T 5: 120,955,705 (GRCm39) N162I probably damaging Het
Or4s2 A G 2: 88,473,554 (GRCm39) I148V probably benign Het
Otog A G 7: 45,916,700 (GRCm39) N879S probably damaging Het
Pcsk7 T A 9: 45,838,923 (GRCm39) Y612N probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pgbd5 T C 8: 125,160,750 (GRCm39) D39G probably benign Het
Pkhd1l1 C T 15: 44,368,581 (GRCm39) Q800* probably null Het
Pkn3 T C 2: 29,977,122 (GRCm39) S621P probably benign Het
Polr3c T C 3: 96,622,501 (GRCm39) I385V probably benign Het
Ppp1r21 G T 17: 88,863,031 (GRCm39) G257W probably benign Het
Prkn A G 17: 11,653,501 (GRCm39) D199G probably benign Het
Pxylp1 C T 9: 96,738,420 (GRCm39) probably null Het
Rasgrp1 T C 2: 117,116,589 (GRCm39) T613A probably benign Het
Robo3 C T 9: 37,336,674 (GRCm39) V387I probably benign Het
Rxfp2 T A 5: 149,973,046 (GRCm39) Y174N possibly damaging Het
Sec24a T C 11: 51,604,379 (GRCm39) M746V probably damaging Het
Sema4f T A 6: 82,891,355 (GRCm39) E571D possibly damaging Het
Septin3 T C 15: 82,170,657 (GRCm39) V217A probably benign Het
Serpinb1b A C 13: 33,277,548 (GRCm39) K260N probably benign Het
Sin3b A G 8: 73,476,500 (GRCm39) T645A possibly damaging Het
Sobp C T 10: 42,897,830 (GRCm39) R585Q probably damaging Het
Specc1l T A 10: 75,082,281 (GRCm39) L559Q possibly damaging Het
Srxn1 C T 2: 151,947,573 (GRCm39) probably benign Het
Sspo G A 6: 48,432,794 (GRCm39) R890Q probably benign Het
Stard9 A G 2: 120,518,591 (GRCm39) D505G probably damaging Het
Tjp1 A T 7: 64,972,087 (GRCm39) I653K probably damaging Het
Tnks C T 8: 35,298,866 (GRCm39) E1296K probably damaging Het
Ttbk2 A T 2: 120,579,121 (GRCm39) I667N probably benign Het
Usp24 T C 4: 106,199,550 (GRCm39) S165P possibly damaging Het
Usp46 T A 5: 74,189,598 (GRCm39) K109* probably null Het
Vmn1r191 A G 13: 22,362,942 (GRCm39) C271R probably benign Het
Zfp592 T C 7: 80,673,200 (GRCm39) S55P probably damaging Het
Zmynd15 T C 11: 70,351,867 (GRCm39) S158P probably benign Het
Zscan22 T G 7: 12,640,664 (GRCm39) C303G 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
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
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'- TACTCTGAGGCAGCAAGGAG -3'
(R):5'- AGGCCAAGGTGAGCTATCAG -3'

Sequencing Primer
(F):5'- TCCCTGAGGAGCAGTCAG -3'
(R):5'- GCTATCAGCAAGGAAGCAAAGACC -3'
Posted On 2019-10-07