Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03329:Abcf2'

416821

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abcf2

Ensembl Gene

ENSMUSG00000028953

Gene Name

ATP-binding cassette, sub-family F member 2

Synonyms

0710005O05Rik, Drr3

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.251) question?

Stock #

IGL03329

Quality Score

Status

Chromosome

Chromosomal Location

24770343-24782465 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to G at 24776246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030795 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030795] [ENSMUST00000030795]

AlphaFold

Q99LE6

Predicted Effect

probably null
Transcript: ENSMUST00000030795

SMART Domains

Protein: ENSMUSP00000030795
Gene: ENSMUSG00000028953

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
AAA	115	308	1.6e-6	SMART
AAA	427	595	6.32e-5	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000030795

SMART Domains

Protein: ENSMUSP00000030795
Gene: ENSMUSG00000028953

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
AAA	115	308	1.6e-6	SMART
AAA	427	595	6.32e-5	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding casette proteins transport various molecules across extra- and intracellular membranes. Alterations in this gene may be involved in cancer progression. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 3 and 7. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,248,047 (GRCm39)	D2598G	probably benign	Het
Acsl1	T	A	8: 46,946,031 (GRCm39)	C55S	possibly damaging	Het
Adam22	T	A	5: 8,199,210 (GRCm39)	M249L	possibly damaging	Het
Alk	A	G	17: 72,206,159 (GRCm39)		probably benign	Het
Ambn	T	G	5: 88,609,527 (GRCm39)	S78R	probably benign	Het
Apbb1ip	T	A	2: 22,757,729 (GRCm39)	V449D	possibly damaging	Het
Atp13a5	A	T	16: 29,152,883 (GRCm39)	Y194*	probably null	Het
Cacul1	A	T	19: 60,531,489 (GRCm39)	F260Y	probably damaging	Het
Cfap46	A	G	7: 139,181,081 (GRCm39)	I2640T	probably damaging	Het
Chd7	T	C	4: 8,841,108 (GRCm39)	S1446P	probably damaging	Het
Cimap2	G	T	4: 106,464,601 (GRCm39)	R353S	possibly damaging	Het
Clcn2	G	A	16: 20,530,902 (GRCm39)	T276I	probably damaging	Het
Dcbld1	T	G	10: 52,195,721 (GRCm39)	Y310D	probably damaging	Het
Dennd4c	G	A	4: 86,696,113 (GRCm39)	V157I	probably damaging	Het
Dennd5b	G	T	6: 148,899,758 (GRCm39)	T1213K	possibly damaging	Het
Dusp8	A	T	7: 141,638,097 (GRCm39)	L177*	probably null	Het
Erbb4	T	C	1: 68,367,281 (GRCm39)	S479G	probably benign	Het
Gpbp1	T	A	13: 111,589,787 (GRCm39)		probably benign	Het
Hmcn1	T	A	1: 150,608,661 (GRCm39)	Q1507L	probably damaging	Het
Inppl1	G	T	7: 101,473,587 (GRCm39)	T1021K	possibly damaging	Het
Klk1b9	A	G	7: 43,628,838 (GRCm39)	E114G	probably benign	Het
Klre1	T	C	6: 129,562,660 (GRCm39)		probably benign	Het
Lancl1	T	C	1: 67,060,209 (GRCm39)	Y72C	probably damaging	Het
Lilra6	A	G	7: 3,917,647 (GRCm39)		probably benign	Het
Magi2	T	C	5: 20,671,126 (GRCm39)	V490A	possibly damaging	Het
Myo3b	T	A	2: 70,084,803 (GRCm39)	N720K	probably damaging	Het
Or2ah1	A	C	2: 85,653,729 (GRCm39)	D138A	probably benign	Het
Or7e166	T	C	9: 19,624,597 (GRCm39)	V158A	probably benign	Het
Ppp2r3d	T	A	9: 101,003,630 (GRCm39)		probably benign	Het
Rbm47	T	C	5: 66,184,036 (GRCm39)	D189G	probably damaging	Het
Scn2a	G	A	2: 65,594,973 (GRCm39)	D1941N	probably benign	Het
Sgpp2	T	C	1: 78,367,200 (GRCm39)	I111T	probably benign	Het
Sh3bp2	T	C	5: 34,716,546 (GRCm39)	V319A	probably benign	Het
Slc12a3	A	C	8: 95,092,519 (GRCm39)	Q980P	possibly damaging	Het
Slc39a8	G	T	3: 135,590,474 (GRCm39)	G389V	probably damaging	Het
Slc5a3	T	C	16: 91,874,348 (GRCm39)	I135T	probably damaging	Het
Smu1	A	G	4: 40,739,568 (GRCm39)	V414A	possibly damaging	Het
Tlr12	A	G	4: 128,510,645 (GRCm39)	F535S	possibly damaging	Het
Trim47	A	G	11: 115,997,254 (GRCm39)	V501A	probably damaging	Het
Vmn1r16	A	T	6: 57,300,603 (GRCm39)	N6K	probably damaging	Het
Vwce	G	A	19: 10,637,360 (GRCm39)	C711Y	possibly damaging	Het
Wdr25	C	T	12: 108,864,262 (GRCm39)	L136F	probably benign	Het
Xpo1	A	G	11: 23,234,306 (GRCm39)	Q437R	probably benign	Het
Zfp169	C	A	13: 48,644,270 (GRCm39)		probably benign	Het
Zfp607b	A	T	7: 27,403,295 (GRCm39)	I584F	probably damaging	Het
Zzef1	T	A	11: 72,808,099 (GRCm39)		probably benign	Het

Other mutations in Abcf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00579:Abcf2	APN	5	24,773,794 (GRCm39)	missense	possibly damaging	0.95
IGL02867:Abcf2	APN	5	24,776,149 (GRCm39)	missense	probably benign	0.03
IGL03325:Abcf2	APN	5	24,779,210 (GRCm39)	missense	probably damaging	1.00
R0281:Abcf2	UTSW	5	24,771,562 (GRCm39)	missense	probably damaging	1.00
R0357:Abcf2	UTSW	5	24,778,463 (GRCm39)	missense	probably benign	0.16
R0815:Abcf2	UTSW	5	24,772,268 (GRCm39)	missense	probably damaging	1.00
R0835:Abcf2	UTSW	5	24,779,251 (GRCm39)	missense	probably damaging	0.99
R1793:Abcf2	UTSW	5	24,773,774 (GRCm39)	missense	probably benign
R2321:Abcf2	UTSW	5	24,772,251 (GRCm39)	nonsense	probably null
R5006:Abcf2	UTSW	5	24,781,535 (GRCm39)	nonsense	probably null
R5765:Abcf2	UTSW	5	24,778,421 (GRCm39)	missense	probably damaging	0.99
R6317:Abcf2	UTSW	5	24,774,156 (GRCm39)	nonsense	probably null
R6684:Abcf2	UTSW	5	24,774,137 (GRCm39)	missense	probably damaging	1.00
R6906:Abcf2	UTSW	5	24,773,840 (GRCm39)	missense	possibly damaging	0.90
R6980:Abcf2	UTSW	5	24,770,970 (GRCm39)	missense	probably benign	0.01
R8266:Abcf2	UTSW	5	24,781,589 (GRCm39)	small insertion	probably benign
R8267:Abcf2	UTSW	5	24,781,589 (GRCm39)	small insertion	probably benign
R8290:Abcf2	UTSW	5	24,781,589 (GRCm39)	small insertion	probably benign
R8294:Abcf2	UTSW	5	24,781,589 (GRCm39)	small insertion	probably benign
R8295:Abcf2	UTSW	5	24,781,589 (GRCm39)	small insertion	probably benign
R8446:Abcf2	UTSW	5	24,771,641 (GRCm39)	nonsense	probably null
R9038:Abcf2	UTSW	5	24,776,191 (GRCm39)	missense	possibly damaging	0.70
R9061:Abcf2	UTSW	5	24,778,504 (GRCm39)	missense	possibly damaging	0.57
R9342:Abcf2	UTSW	5	24,778,475 (GRCm39)	missense	probably benign
R9478:Abcf2	UTSW	5	24,770,940 (GRCm39)	missense	possibly damaging	0.93
R9518:Abcf2	UTSW	5	24,771,560 (GRCm39)	missense	possibly damaging	0.75
R9667:Abcf2	UTSW	5	24,779,185 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02