Mutagenetix > Incidental Mutation

Incidental Mutation 'R1879:Abcf1'

211439

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

039900-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R1879 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36267711-36280642 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36272704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 260 (E260D)

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: E260D

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000036881
Gene: ENSMUSG00000038762
AA Change: E260D

Domain	Start	End	E-Value	Type
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: 97.3%
3x: 96.6%
10x: 94.9%
20x: 91.6%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	C	2: 30,686,488 (GRCm39)	D268G	possibly damaging	Het
Abce1	T	C	8: 80,414,085 (GRCm39)	N542S	probably benign	Het
Ahcy	A	G	2: 154,906,072 (GRCm39)		probably null	Het
Akap13	C	T	7: 75,260,475 (GRCm39)	A1033V	probably benign	Het
Alkbh6	A	G	7: 30,011,320 (GRCm39)	N46S	probably damaging	Het
Ankrd34c	A	C	9: 89,612,126 (GRCm39)	L72V	probably damaging	Het
Arf4	T	A	14: 26,368,076 (GRCm39)	N25K	probably damaging	Het
Arhgef4	A	G	1: 34,761,521 (GRCm39)	D259G	unknown	Het
Cavin1	C	A	11: 100,861,036 (GRCm39)	G86V	probably damaging	Het
Ces1d	G	A	8: 93,916,126 (GRCm39)	T167I	probably benign	Het
Cfb	T	C	17: 35,079,536 (GRCm39)	I754V	probably benign	Het
Clcnkb	C	T	4: 141,135,130 (GRCm39)	R536H	possibly damaging	Het
Clpb	T	G	7: 101,355,690 (GRCm39)	S181R	probably benign	Het
Col1a1	T	C	11: 94,842,051 (GRCm39)	M1366T	unknown	Het
Cped1	T	A	6: 22,085,014 (GRCm39)		probably null	Het
Crip1	G	A	12: 113,116,952 (GRCm39)	C82Y	probably damaging	Het
Csmd3	T	C	15: 47,520,915 (GRCm39)	T2810A	possibly damaging	Het
Cyp2b9	A	T	7: 25,897,994 (GRCm39)	D266V	probably damaging	Het
Cyp46a1	A	G	12: 108,319,385 (GRCm39)	D294G	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Dst	A	G	1: 34,227,924 (GRCm39)	E1514G	probably benign	Het
Dync1h1	A	G	12: 110,591,070 (GRCm39)	E1046G	probably benign	Het
Eya2	T	C	2: 165,506,726 (GRCm39)	V4A	probably benign	Het
Frem3	A	T	8: 81,338,567 (GRCm39)	R287*	probably null	Het
Fuca2	T	A	10: 13,383,000 (GRCm39)	C323S	possibly damaging	Het
Ggt7	T	C	2: 155,356,707 (GRCm39)	E4G	possibly damaging	Het
Gli1	C	T	10: 127,169,606 (GRCm39)	R383H	probably damaging	Het
Gm4559	C	A	7: 141,827,998 (GRCm39)	V35F	unknown	Het
Gpm6a	T	A	8: 55,490,365 (GRCm39)	C14S	probably damaging	Het
Hcn2	A	T	10: 79,562,023 (GRCm39)	I340F	probably benign	Het
Hdac9	T	A	12: 34,440,332 (GRCm39)	D349V	probably damaging	Het
Krt34	T	C	11: 99,929,118 (GRCm39)	D364G	possibly damaging	Het
Mon2	C	T	10: 122,838,790 (GRCm39)	R1565H	probably damaging	Het
Myb	T	A	10: 21,017,876 (GRCm39)	M482L	probably benign	Het
Nckap1l	A	T	15: 103,373,028 (GRCm39)	I294F	probably benign	Het
Nr2e1	A	G	10: 42,444,367 (GRCm39)		probably null	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or1j16	G	T	2: 36,530,201 (GRCm39)	R50M	possibly damaging	Het
Or1r1	T	A	11: 73,875,368 (GRCm39)	D22V	probably benign	Het
Or4k38	A	T	2: 111,165,808 (GRCm39)	I205N	possibly damaging	Het
Or52h7	T	C	7: 104,214,118 (GRCm39)	V230A	possibly damaging	Het
Pde8b	A	T	13: 95,221,723 (GRCm39)	I308N	possibly damaging	Het
Pdzd2	T	C	15: 12,373,986 (GRCm39)	R2050G	possibly damaging	Het
Phc3	C	A	3: 30,968,607 (GRCm39)	S840I	probably damaging	Het
Piezo2	T	A	18: 63,247,031 (GRCm39)	Y327F	probably damaging	Het
Pnliprp1	A	T	19: 58,732,516 (GRCm39)	I460F	probably benign	Het
Pphln1	T	G	15: 93,321,927 (GRCm39)	D35E	probably damaging	Het
Prdm6	G	A	18: 53,701,289 (GRCm39)	V360I	probably damaging	Het
Rab35	T	A	5: 115,778,219 (GRCm39)	W62R	probably damaging	Het
Sct	G	T	7: 140,858,612 (GRCm39)	P70Q	probably damaging	Het
Sdf4	A	G	4: 156,094,304 (GRCm39)	N328S	probably damaging	Het
Senp5	A	T	16: 31,802,642 (GRCm39)	S488R	probably damaging	Het
Serpina3n	A	G	12: 104,375,213 (GRCm39)	E95G	probably benign	Het
Sfswap	C	T	5: 129,618,392 (GRCm39)	A442V	probably benign	Het
Sgcd	T	C	11: 47,246,068 (GRCm39)	I45V	probably benign	Het
Sgcg	T	C	14: 61,474,346 (GRCm39)		probably null	Het
Slc39a12	G	T	2: 14,448,868 (GRCm39)	V489L	probably benign	Het
Slc5a11	T	A	7: 122,838,671 (GRCm39)	I96N	possibly damaging	Het
Slc6a12	A	G	6: 121,324,382 (GRCm39)	D2G	probably damaging	Het
Slc8a1	T	C	17: 81,955,442 (GRCm39)	D532G	probably damaging	Het
Smarcd3	C	A	5: 24,798,019 (GRCm39)	C465F	probably damaging	Het
Smc1b	T	A	15: 84,976,268 (GRCm39)	Q813L	probably benign	Het
Spag1	G	A	15: 36,181,916 (GRCm39)	E25K	probably damaging	Het
Sptan1	A	T	2: 29,885,540 (GRCm39)	N715I	probably damaging	Het
Tas1r2	T	A	4: 139,397,006 (GRCm39)	Y782N	probably damaging	Het
Thap3	A	T	4: 152,067,593 (GRCm39)	C162S	probably benign	Het
Topaz1	T	A	9: 122,578,684 (GRCm39)	D531E	possibly damaging	Het
Vmn1r25	C	T	6: 57,955,912 (GRCm39)	A126T	possibly damaging	Het
Zfhx2	A	G	14: 55,303,074 (GRCm39)	F1637L	probably benign	Het
Zfhx2	T	C	14: 55,310,206 (GRCm39)	Y780C	possibly damaging	Het
Zfp513	T	G	5: 31,357,767 (GRCm39)	K202T	probably damaging	Het
Zfp956	A	T	6: 47,940,678 (GRCm39)	T346S	probably benign	Het
Zkscan1	C	T	5: 138,095,410 (GRCm39)	A219V	probably damaging	Het

Other mutations in Abcf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- TTAGGCATTCATCCCTCACAG -3'
(R):5'- GATCCCTATGCCAACCTTAGC -3'

Sequencing Primer
(F):5'- CAGGCCTACTCAAGTGCTAAGTG -3'
(R):5'- TCCCTATGCCAACCTTAGCAAAAAG -3'

Posted On

2014-06-30