Incidental Mutation 'R3433:Abcf1'
ID 266316
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 040651-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R3433 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 36267711-36280642 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36269109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 689 (Y689H)
Ref Sequence ENSEMBL: ENSMUSP00000036881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043757]
AlphaFold Q6P542
Predicted Effect probably benign
Transcript: ENSMUST00000043757
AA Change: Y689H

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000036881
Gene: ENSMUSG00000038762
AA Change: Y689H

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 noncoding transcript
Transcript: ENSMUST00000173090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174834
Meta Mutation Damage Score 0.1582 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (50/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T A 7: 119,893,455 (GRCm39) W1302R probably damaging Het
Adamtsl5 T C 10: 80,178,725 (GRCm39) T218A probably benign Het
Ahnak G T 19: 8,987,358 (GRCm39) V2881L probably benign Het
Atp6v1b1 C A 6: 83,720,074 (GRCm39) T3K possibly damaging Het
Atp8b5 A T 4: 43,372,697 (GRCm39) R1112S probably benign Het
Carmil3 A G 14: 55,745,151 (GRCm39) D1331G probably benign Het
Catsperg2 A G 7: 29,400,643 (GRCm39) F696S possibly damaging Het
Cd33 T C 7: 43,179,331 (GRCm39) T273A probably benign Het
Cenpf C T 1: 189,392,146 (GRCm39) C562Y probably damaging Het
Cep192 A G 18: 67,967,963 (GRCm39) R816G probably benign Het
Cnot11 G A 1: 39,584,268 (GRCm39) probably null Het
Col18a1 A G 10: 76,932,102 (GRCm39) L329P unknown Het
Dnah9 T C 11: 65,965,938 (GRCm39) M1693V possibly damaging Het
Fbxo41 A G 6: 85,454,613 (GRCm39) I701T probably damaging Het
Figla G T 6: 85,994,411 (GRCm39) R62L probably damaging Het
Gca T G 2: 62,520,318 (GRCm39) S159R probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm10845 C T 14: 80,100,851 (GRCm39) noncoding transcript Het
Gm5114 T C 7: 39,058,621 (GRCm39) K333E probably benign Het
Ift140 T C 17: 25,255,282 (GRCm39) I466T probably benign Het
Il6st A G 13: 112,640,365 (GRCm39) K653E probably damaging Het
Kansl2 A G 15: 98,426,742 (GRCm39) probably null Het
Kcnh7 T C 2: 62,552,261 (GRCm39) D910G probably benign Het
Leng8 C A 7: 4,145,131 (GRCm39) T177K probably benign Het
Lrrtm2 A C 18: 35,346,950 (GRCm39) S117R probably damaging Het
Megf8 G T 7: 25,059,549 (GRCm39) A2285S probably benign Het
Meiob T C 17: 25,035,571 (GRCm39) probably benign Het
Myo18a G T 11: 77,708,870 (GRCm39) probably null Het
Nars1 A T 18: 64,642,374 (GRCm39) M156K probably damaging Het
Ndor1 A G 2: 25,137,823 (GRCm39) S499P possibly damaging Het
Or2a57 A T 6: 43,212,607 (GRCm39) I22F probably damaging Het
Or2r11 G A 6: 42,437,888 (GRCm39) H22Y probably benign Het
Or4a78 T C 2: 89,497,577 (GRCm39) I218V probably benign Het
Pcdh15 T G 10: 74,467,331 (GRCm39) S1715A probably benign Het
Ptprd C A 4: 76,004,248 (GRCm39) probably null Het
Ros1 A G 10: 51,967,204 (GRCm39) Y1668H probably benign Het
Rrbp1 A G 2: 143,794,200 (GRCm39) probably benign Het
Rtn4rl2 T C 2: 84,702,444 (GRCm39) Y376C probably damaging Het
Seh1l A C 18: 67,926,222 (GRCm39) K358T probably benign Het
Sema3e A T 5: 14,302,728 (GRCm39) Y751F probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Spred2 G T 11: 19,948,277 (GRCm39) E91* probably null Het
Sspo A T 6: 48,452,885 (GRCm39) probably null Het
Tcaf1 A G 6: 42,663,508 (GRCm39) V124A probably damaging Het
Tnks1bp1 T C 2: 84,901,360 (GRCm39) probably benign Het
Txndc11 T C 16: 10,906,052 (GRCm39) T493A probably benign Het
Usp17lb T A 7: 104,490,855 (GRCm39) Q23L possibly damaging Het
Vgf T C 5: 137,059,873 (GRCm39) F12L probably benign Het
Zfp13 G A 17: 23,795,602 (GRCm39) T323I 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
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
Predicted Primers PCR Primer
(F):5'- TCAGCTTCCAGGAACAGCTG -3'
(R):5'- CCAGCCCAGTTCTGATGTTTG -3'

Sequencing Primer
(F):5'- CTTCCAGGAACAGCTGATGAGGTC -3'
(R):5'- TGTGAATTCAAGGCCAGCC -3'
Posted On 2015-02-18