Mutagenetix > Incidental Mutation

Incidental Mutation 'R5765:Abcf2'

501498

Institutional Source

Beutler Lab

Gene Symbol

Abcf2

Ensembl Gene

ENSMUSG00000028953

Gene Name

ATP-binding cassette, sub-family F member 2

Synonyms

0710005O05Rik, Drr3

MMRRC Submission

043366-MU

Accession Numbers

Essential gene?

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

Stock #

R5765 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24770343-24782465 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24778421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 246 (R246G)

Ref Sequence

ENSEMBL: ENSMUSP00000030795 (fasta)

Gene Model

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

AlphaFold

Q99LE6

Predicted Effect

probably damaging
Transcript: ENSMUST00000030795
AA Change: R246G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030795
Gene: ENSMUSG00000028953
AA Change: R246G

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

Meta Mutation Damage Score

0.8605

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

94% (51/54)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	A	T	11: 65,044,066 (GRCm39)		probably benign	Het
Adamts19	G	T	18: 59,185,654 (GRCm39)	C1176F	probably damaging	Het
Adh7	G	A	3: 137,932,090 (GRCm39)	V235I	probably benign	Het
Aoc1l1	C	T	6: 48,955,471 (GRCm39)	P694S	probably damaging	Het
Caprin2	G	C	6: 148,744,666 (GRCm39)	P701A	probably damaging	Het
Casp7	T	C	19: 56,422,315 (GRCm39)	V110A	possibly damaging	Het
Cd1d2	A	T	3: 86,894,549 (GRCm39)	M106L	probably benign	Het
Cntnap2	C	T	6: 46,506,749 (GRCm39)		probably benign	Het
Cpm	A	G	10: 117,507,638 (GRCm39)	I252V	probably benign	Het
Dnaaf2	A	C	12: 69,239,627 (GRCm39)	I631M	probably damaging	Het
Fads2b	T	G	2: 85,314,538 (GRCm39)		probably null	Het
Fam117b	A	G	1: 60,009,631 (GRCm39)		probably null	Het
Fbxw22	T	C	9: 109,214,064 (GRCm39)	M251V	probably benign	Het
Fignl1	T	C	11: 11,752,011 (GRCm39)		probably null	Het
Foxp1	G	A	6: 98,992,423 (GRCm39)	L156F	probably damaging	Het
Gdap1	A	T	1: 17,231,650 (GRCm39)	M332L	probably benign	Het
H2-M3	T	C	17: 37,583,334 (GRCm39)	F265S	probably damaging	Het
Il1rl1	C	T	1: 40,501,103 (GRCm39)	A493V	probably benign	Het
Iqce	A	G	5: 140,651,895 (GRCm39)	S359P	probably damaging	Het
Kif2b	C	T	11: 91,468,068 (GRCm39)	E72K	probably benign	Het
Luzp1	T	C	4: 136,268,340 (GRCm39)	S188P	probably damaging	Het
Med13l	T	A	5: 118,866,707 (GRCm39)	L587Q	probably damaging	Het
Mocs2	A	G	13: 114,962,692 (GRCm39)		probably null	Het
Mtnr1b	T	C	9: 15,774,459 (GRCm39)	Y200C	probably damaging	Het
Nalcn	C	T	14: 123,702,138 (GRCm39)	V458I	possibly damaging	Het
Nbea	C	T	3: 55,912,719 (GRCm39)	V1023I	probably benign	Het
Nbeal1	T	A	1: 60,331,006 (GRCm39)	V2205D	probably damaging	Het
Nfe2l3	A	G	6: 51,434,226 (GRCm39)	D262G	probably damaging	Het
Nsfl1c	T	C	2: 151,346,085 (GRCm39)	Y169H	probably damaging	Het
Pcdhac1	A	T	18: 37,223,372 (GRCm39)	R62*	probably null	Het
Pcdhga1	A	G	18: 37,796,714 (GRCm39)	T573A	probably benign	Het
Plin4	C	T	17: 56,409,470 (GRCm39)	C1276Y	possibly damaging	Het
Ppp6r1	C	A	7: 4,645,207 (GRCm39)	R220L	possibly damaging	Het
Ptprz1	T	G	6: 23,000,235 (GRCm39)	V775G	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc17a6	A	G	7: 51,275,249 (GRCm39)	T103A	possibly damaging	Het
Spock1	A	T	13: 57,577,217 (GRCm39)	L404Q	probably benign	Het
Stradb	C	A	1: 59,031,903 (GRCm39)	H272N	probably benign	Het
Strn3	A	G	12: 51,680,410 (GRCm39)	S397P	probably benign	Het
Synpo2l	C	T	14: 20,716,198 (GRCm39)	R126H	possibly damaging	Het
Tas2r104	A	G	6: 131,662,236 (GRCm39)	Y158H	probably benign	Het
Tiparp	T	A	3: 65,438,771 (GRCm39)	I29N	possibly damaging	Het
Tnpo1	G	A	13: 98,996,349 (GRCm39)	T484M	probably benign	Het
Tsc22d4	A	G	5: 137,756,805 (GRCm39)	I78V	probably benign	Het
Ugt2b1	T	C	5: 87,067,265 (GRCm39)	Y386C	probably benign	Het
Ugt2b38	A	G	5: 87,571,954 (GRCm39)	V26A	probably damaging	Het
Vmn2r116	G	A	17: 23,620,378 (GRCm39)	C704Y	probably damaging	Het
Vmn2r97	T	A	17: 19,167,442 (GRCm39)	Y565*	probably null	Het
Zfand2b	T	A	1: 75,147,171 (GRCm39)		probably null	Het
Zzef1	C	T	11: 72,712,763 (GRCm39)	Q228*	probably null	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
IGL03329:Abcf2	APN	5	24,776,246 (GRCm39)	critical splice acceptor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CATTTTACTTGGGTCTGCTCAGAG -3'
(R):5'- GTTAGCACATGAGGATGCGG -3'

Sequencing Primer
(F):5'- CTCAGAGCACTACTGGAACTGG -3'
(R):5'- TGCGGAGTGTGAAAAGCTC -3'

Posted On

2017-12-01