Mutagenetix > Incidental Mutation

Incidental Mutation 'R4932:Abcf1'

380686

Institutional Source

Beutler Lab

Gene Symbol

Abcf1

Ensembl Gene

ENSMUSG00000038762

Gene Name

ATP-binding cassette, sub-family F member 1

Synonyms

Abc50, D17Wsu166e, GCN20

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R4932 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36267711-36280642 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36270342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 616 (V616E)

Ref Sequence

ENSEMBL: ENSMUSP00000036881 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043757] [ENSMUST00000172661] [ENSMUST00000174128]

AlphaFold

Q6P542

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043757
AA Change: V616E

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000036881
Gene: ENSMUSG00000038762
AA Change: V616E

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	G	12: 81,605,692 (GRCm39)	V690A	probably benign	Het
Afg3l1	A	T	8: 124,228,119 (GRCm39)	T635S	probably damaging	Het
Ahcyl2	T	A	6: 29,890,700 (GRCm39)	M390K	probably benign	Het
Ank3	T	A	10: 69,734,053 (GRCm39)		probably null	Het
Antkmt	T	G	17: 26,010,652 (GRCm39)		probably null	Het
Arhgef3	A	T	14: 27,106,170 (GRCm39)	K151N	probably damaging	Het
Ccr3	T	G	9: 123,829,043 (GRCm39)	F126C	probably damaging	Het
Ccser1	A	G	6: 61,695,175 (GRCm39)	D170G	possibly damaging	Het
Celsr2	T	A	3: 108,310,074 (GRCm39)	D1552V	probably damaging	Het
Cfap69	G	A	5: 5,675,820 (GRCm39)	L265F	probably damaging	Het
Chrna9	C	T	5: 66,126,533 (GRCm39)	R92*	probably null	Het
Cog3	A	T	14: 75,970,394 (GRCm39)	V341D	probably damaging	Het
Csmd1	C	A	8: 16,073,779 (GRCm39)	R2072L	probably damaging	Het
Dbf4	G	T	5: 8,448,039 (GRCm39)	H390Q	probably benign	Het
Dcaf4	T	A	12: 83,579,078 (GRCm39)	C166S	possibly damaging	Het
Dclk3	T	A	9: 111,297,110 (GRCm39)	L218Q	possibly damaging	Het
Dip2b	T	A	15: 100,069,603 (GRCm39)	W643R	probably damaging	Het
Dip2c	A	G	13: 9,674,008 (GRCm39)	K1091E	probably damaging	Het
Dis3	T	A	14: 99,326,340 (GRCm39)	H415L	probably damaging	Het
Dnah7a	T	A	1: 53,542,737 (GRCm39)	I2478F	possibly damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Doc2a	T	C	7: 126,447,752 (GRCm39)		probably benign	Het
Dph5	A	T	3: 115,693,456 (GRCm39)	M125L	probably benign	Het
Dst	A	T	1: 34,267,764 (GRCm39)	T5247S	possibly damaging	Het
Eno4	T	G	19: 58,952,889 (GRCm39)	V477G	possibly damaging	Het
Exosc8	T	C	3: 54,636,711 (GRCm39)	I207V	possibly damaging	Het
Fat4	T	A	3: 39,061,352 (GRCm39)	S4312T	probably benign	Het
Fgfr2	T	C	7: 129,843,007 (GRCm39)	D126G	probably damaging	Het
Fgfr4	A	G	13: 55,315,983 (GRCm39)	T799A	unknown	Het
Gcn1	A	T	5: 115,730,203 (GRCm39)	D839V	probably benign	Het
Gprin3	A	G	6: 59,331,158 (GRCm39)	V383A	probably benign	Het
Gpt	T	C	15: 76,583,040 (GRCm39)	V361A	probably benign	Het
Hepacam	G	A	9: 37,293,060 (GRCm39)	C217Y	probably damaging	Het
Hsp90aa1	A	T	12: 110,660,151 (GRCm39)	Y382N	probably damaging	Het
Htr2a	T	A	14: 74,879,462 (GRCm39)	N30K	probably benign	Het
Jhy	A	T	9: 40,872,299 (GRCm39)	M70K	possibly damaging	Het
Lrrc19	T	C	4: 94,529,174 (GRCm39)	Y36C	probably damaging	Het
Madcam1	C	T	10: 79,501,447 (GRCm39)	Q171*	probably null	Het
Mcm8	G	A	2: 132,680,629 (GRCm39)	M544I	probably benign	Het
Mdga1	C	T	17: 30,076,580 (GRCm39)	G64E	probably damaging	Het
Mmp3	A	G	9: 7,446,994 (GRCm39)	D58G	probably benign	Het
Ms4a10	T	C	19: 10,942,132 (GRCm39)	Y123C	probably damaging	Het
Ms4a4d	T	A	19: 11,535,296 (GRCm39)	I198K	probably benign	Het
Mthfd1l	A	T	10: 3,930,241 (GRCm39)	D112V	probably benign	Het
N4bp2l2	A	C	5: 150,566,606 (GRCm39)	S567R	probably benign	Het
Ndufaf2	A	G	13: 108,295,010 (GRCm39)	Y32H	probably damaging	Het
Nup153	T	A	13: 46,866,213 (GRCm39)	K182*	probably null	Het
Or4c100	A	G	2: 88,356,079 (GRCm39)	T51A	probably benign	Het
Or52p2	A	G	7: 102,237,623 (GRCm39)	F109S	probably damaging	Het
Or5p4	T	A	7: 107,680,781 (GRCm39)	V260E	probably damaging	Het
Otoa	T	C	7: 120,754,358 (GRCm39)	S928P	probably damaging	Het
Oxct2a	T	C	4: 123,216,496 (GRCm39)	D295G	probably benign	Het
P4ha2	C	A	11: 54,015,846 (GRCm39)	T411K	probably benign	Het
Plcg2	A	T	8: 118,333,822 (GRCm39)	Q865L	probably benign	Het
Prepl	G	T	17: 85,385,932 (GRCm39)	T244K	possibly damaging	Het
Ptpro	A	T	6: 137,388,103 (GRCm39)	K776*	probably null	Het
Rc3h2	T	C	2: 37,279,844 (GRCm39)	K462E	possibly damaging	Het
Scn10a	A	G	9: 119,516,940 (GRCm39)		probably null	Het
Serpinb1c	A	G	13: 33,066,147 (GRCm39)	V266A	probably damaging	Het
Slc6a20b	T	A	9: 123,433,861 (GRCm39)	N326Y	probably damaging	Het
Spcs2	C	T	7: 99,508,038 (GRCm39)	G16D	possibly damaging	Het
Spns3	T	C	11: 72,390,321 (GRCm39)	D441G	possibly damaging	Het
Srsf4	A	G	4: 131,618,556 (GRCm39)	D49G	probably damaging	Het
Tec	A	T	5: 72,917,736 (GRCm39)	C494*	probably null	Het
Tecpr1	A	T	5: 144,141,476 (GRCm39)	Y798N	probably damaging	Het
Tex56	A	T	13: 35,116,613 (GRCm39)	T121S	possibly damaging	Het
Tmt1a	T	A	15: 100,202,987 (GRCm39)	F87Y	probably benign	Het
Trim56	C	T	5: 137,143,343 (GRCm39)	E58K	probably damaging	Het
Ttn	A	T	2: 76,626,478 (GRCm39)	D13146E	probably damaging	Het
Ube2q1	A	T	3: 89,686,790 (GRCm39)	K46*	probably null	Het
Ucn	G	T	5: 31,295,842 (GRCm39)	T8K	probably benign	Het
Usp25	T	C	16: 76,830,870 (GRCm39)		probably null	Het
Usp48	A	T	4: 137,343,144 (GRCm39)	Q430L	probably benign	Het
Usp48	A	T	4: 137,343,145 (GRCm39)		probably null	Het
Vill	A	T	9: 118,890,579 (GRCm39)	D164V	probably damaging	Het
Vmn2r91	T	A	17: 18,356,751 (GRCm39)	M806K	possibly damaging	Het
Wdfy4	T	A	14: 32,750,970 (GRCm39)	Y2256F	probably damaging	Het
Wsb1	A	G	11: 79,141,826 (GRCm39)	S64P	probably damaging	Het
Zc3h11a	C	A	1: 133,552,350 (GRCm39)	V586F	probably benign	Het
Zc3h12d	A	G	10: 7,729,014 (GRCm39)	D126G	probably damaging	Het
Zfp296	G	T	7: 19,313,637 (GRCm39)	C164F	possibly damaging	Het
Zfp442	T	A	2: 150,251,635 (GRCm39)	H89L	possibly damaging	Het
Zfp82	T	A	7: 29,756,312 (GRCm39)		probably null	Het
Zmynd8	A	G	2: 165,676,871 (GRCm39)	V249A	possibly 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
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'- ACTTACTCCGGGAGTCCATG -3'
(R):5'- CCCCAGTGACCTTCAAGAAG -3'

Sequencing Primer
(F):5'- CTAGATTCTTAAAGAGTGGCTTCTGC -3'
(R):5'- GTGACCTTCAAGAAGATGTACCAGC -3'

Posted On

2016-04-15