Mutagenetix > Incidental Mutation

Incidental Mutation 'R7134:Abcf1'

552954

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

045219-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R7134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36267711-36280642 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36270144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 638 (F638S)

Ref Sequence

ENSEMBL: ENSMUSP00000036881 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043757] [ENSMUST00000174128]

AlphaFold

Q6P542

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043757
AA Change: F638S

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036881
Gene: ENSMUSG00000038762
AA Change: F638S

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

probably benign
Transcript: ENSMUST00000174128

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (84/85)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	T	A	5: 137,562,762 (GRCm39)	N159K	probably damaging	Het
Adam6a	T	G	12: 113,508,655 (GRCm39)	S343A	probably benign	Het
Ankrd17	G	A	5: 90,380,173 (GRCm39)	T2505I	probably damaging	Het
Ankrd17	T	C	5: 90,433,382 (GRCm39)	T728A	probably benign	Het
Asap2	G	T	12: 21,315,964 (GRCm39)	E919*	probably null	Het
Atp10b	A	T	11: 43,136,291 (GRCm39)	I1140F	probably damaging	Het
Cep126	A	T	9: 8,103,383 (GRCm39)	V209E	probably damaging	Het
Cfap65	C	T	1: 74,965,792 (GRCm39)	R406Q	probably benign	Het
Cldn1	T	C	16: 26,190,376 (GRCm39)	M1V	probably null	Het
Cryl1	C	T	14: 57,512,956 (GRCm39)	D304N	probably benign	Het
D3Ertd751e	T	C	3: 41,708,212 (GRCm39)		probably null	Het
D630044L22Rik	A	T	17: 26,181,090 (GRCm39)	M156L	probably benign	Het
Ddx21	T	C	10: 62,427,634 (GRCm39)	D423G	possibly damaging	Het
Dock2	T	A	11: 34,260,363 (GRCm39)	M993L	probably benign	Het
Dusp29	A	T	14: 21,727,129 (GRCm39)	I173N	probably damaging	Het
Eif4g1	C	T	16: 20,500,252 (GRCm39)	A675V	probably damaging	Het
Eml1	C	T	12: 108,472,810 (GRCm39)	S206L	probably benign	Het
Farp2	A	C	1: 93,531,181 (GRCm39)	I560L	probably benign	Het
Fbn1	A	T	2: 125,223,969 (GRCm39)	D593E	probably benign	Het
Fetub	A	G	16: 22,748,007 (GRCm39)	D61G	possibly damaging	Het
Fpgs	T	C	2: 32,576,641 (GRCm39)	K329E	probably benign	Het
Fpgt	T	C	3: 154,797,120 (GRCm39)	Y45C	probably damaging	Het
Gas2l1	A	T	11: 5,011,106 (GRCm39)	C574*	probably null	Het
Gm9747	G	T	1: 82,211,837 (GRCm39)	C12F	unknown	Het
H2-T23	T	C	17: 36,342,709 (GRCm39)	Y143C	probably damaging	Het
Hhip	A	T	8: 80,719,142 (GRCm39)	S462T	probably benign	Het
Hnf1a	C	T	5: 115,091,446 (GRCm39)	G416R	probably damaging	Het
Hoxa5	C	T	6: 52,181,023 (GRCm39)	C103Y	probably damaging	Het
Kansl3	G	T	1: 36,390,848 (GRCm39)	D395E	possibly damaging	Het
Marchf10	A	G	11: 105,299,502 (GRCm39)	S116P	probably benign	Het
Med12l	C	T	3: 59,001,180 (GRCm39)	Q748*	probably null	Het
Mroh7	T	A	4: 106,577,791 (GRCm39)	N296Y	probably damaging	Het
Mtbp	T	G	15: 55,421,961 (GRCm39)	D61E	probably benign	Het
Muc5b	A	T	7: 141,411,391 (GRCm39)	I1446L	unknown	Het
Myh15	T	C	16: 48,901,705 (GRCm39)	V266A	possibly damaging	Het
Nap1l1	G	A	10: 111,330,655 (GRCm39)		probably null	Het
Napsa	A	G	7: 44,235,159 (GRCm39)	T315A	probably benign	Het
Nlrc5	A	T	8: 95,206,350 (GRCm39)	I734F	probably damaging	Het
Nnt	A	G	13: 119,531,198 (GRCm39)	V183A	probably damaging	Het
Nploc4	A	T	11: 120,276,614 (GRCm39)	D477E	probably benign	Het
Nrip3	A	G	7: 109,364,695 (GRCm39)	S144P	probably damaging	Het
Ntng1	A	T	3: 109,842,445 (GRCm39)	F109L	probably benign	Het
Or5p61	A	G	7: 107,758,883 (GRCm39)	Y66H	probably damaging	Het
Or5v1	T	A	17: 37,809,776 (GRCm39)	V78D	probably damaging	Het
Or6aa1	G	A	7: 86,044,752 (GRCm39)		probably benign	Het
Or8b36	A	G	9: 37,937,795 (GRCm39)	E231G	probably benign	Het
Pacsin1	G	A	17: 27,921,707 (GRCm39)	D30N	probably damaging	Het
Pbld2	A	T	10: 62,860,368 (GRCm39)		probably benign	Het
Pcnx4	C	T	12: 72,613,750 (GRCm39)	T565I	probably damaging	Het
Pdzk1	A	T	3: 96,763,246 (GRCm39)	T225S	probably benign	Het
Phyhip	T	G	14: 70,704,639 (GRCm39)	I286S	probably benign	Het
Pkd1	T	A	17: 24,813,086 (GRCm39)	Y3903N	probably damaging	Het
Plcb3	A	T	19: 6,942,698 (GRCm39)	L222Q	probably damaging	Het
Plcd4	T	A	1: 74,593,662 (GRCm39)	H262Q	probably benign	Het
Plekhh1	C	T	12: 79,109,390 (GRCm39)	A474V	probably benign	Het
Plppr3	T	C	10: 79,701,537 (GRCm39)	E435G	probably damaging	Het
Poln	T	A	5: 34,276,340 (GRCm39)	N305I	possibly damaging	Het
Pou3f2	T	C	4: 22,486,874 (GRCm39)	T420A	probably benign	Het
Ppdpf	T	C	2: 180,829,523 (GRCm39)	Y17H	probably damaging	Het
Prrx2	C	A	2: 30,768,485 (GRCm39)	T104K	probably damaging	Het
Ptprj	A	T	2: 90,294,822 (GRCm39)	L462H	probably benign	Het
Radil	T	C	5: 142,471,304 (GRCm39)	T991A	probably damaging	Het
Rbsn	T	C	6: 92,178,608 (GRCm39)	E147G	probably damaging	Het
Ror2	C	T	13: 53,300,742 (GRCm39)	V35M	probably benign	Het
Rps6ka1	T	C	4: 133,599,373 (GRCm39)	Q18R	probably benign	Het
Setbp1	T	A	18: 78,902,734 (GRCm39)	D311V	possibly damaging	Het
Setd2	C	T	9: 110,377,865 (GRCm39)	S560L	possibly damaging	Het
Slc12a5	A	T	2: 164,816,878 (GRCm39)	I134F	probably damaging	Het
Speer1h	C	T	5: 11,647,706 (GRCm39)	T148I	possibly damaging	Het
Svil	A	G	18: 5,116,080 (GRCm39)	D2035G	probably damaging	Het
Syngap1	T	C	17: 27,178,985 (GRCm39)	Y665H	probably damaging	Het
Tbc1d9b	T	C	11: 50,043,519 (GRCm39)	Y547H	possibly damaging	Het
Tgm2	A	G	2: 157,980,812 (GRCm39)	V83A	probably benign	Het
Tmem233	T	C	5: 116,189,429 (GRCm39)	I117V	probably benign	Het
Tsen34	A	G	7: 3,703,640 (GRCm39)	T293A	probably damaging	Het
Ttn	A	G	2: 76,709,023 (GRCm39)	V8752A	unknown	Het
Ubac1	A	G	2: 25,904,974 (GRCm39)	V88A	probably benign	Het
Uchl4	T	C	9: 64,142,621 (GRCm39)	V34A	probably damaging	Het
Ugt2a2	C	T	5: 87,608,435 (GRCm39)	R468H	probably benign	Het
Vmn2r102	A	T	17: 19,897,749 (GRCm39)	T255S	probably benign	Het
Wdr6	T	A	9: 108,450,564 (GRCm39)	N988I	probably damaging	Het
Wnk1	A	T	6: 119,903,389 (GRCm39)	I2359N	unknown	Het
Ybey	A	G	10: 76,304,025 (GRCm39)	V59A	probably benign	Het
Zfp268	T	A	4: 145,349,375 (GRCm39)	C271S	possibly damaging	Het
Zfp397	A	G	18: 24,090,122 (GRCm39)	N142S	probably benign	Het
Zfy1	A	T	Y: 725,788 (GRCm39)	V659E	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
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
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'- CACTTTAGGACTCACCGGTG -3'
(R):5'- AAGCGTCCCAAGGAGTACAC -3'

Sequencing Primer
(F):5'- TTTAGGACTCACCGGTGTCAGC -3'
(R):5'- AAGGAGTACACCGTGCGCTTC -3'

Posted On

2019-05-15