Mutagenetix > Incidental Mutation

Incidental Mutation 'R0020:Agfg2'

64735

Institutional Source

Beutler Lab

Gene Symbol

Agfg2

Ensembl Gene

ENSMUSG00000029722

Gene Name

ArfGAP with FG repeats 2

Synonyms

A630095P14Rik, Hrbl

MMRRC Submission

038315-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0020 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

137648725-137682988 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 137652064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 432 (V432M)

Ref Sequence

ENSEMBL: ENSMUSP00000098112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031736] [ENSMUST00000100544] [ENSMUST00000151839] [ENSMUST00000198657]

AlphaFold

Q80WC7

Predicted Effect

probably benign
Transcript: ENSMUST00000031736
AA Change: V421M

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000031736
Gene: ENSMUSG00000029722
AA Change: V421M

Domain	Start	End	E-Value	Type
ArfGap	27	153	7.19e-35	SMART
low complexity region	194	219	N/A	INTRINSIC
low complexity region	235	249	N/A	INTRINSIC
low complexity region	269	283	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100544
AA Change: V432M

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000098112
Gene: ENSMUSG00000029722
AA Change: V432M

Domain	Start	End	E-Value	Type
ArfGap	27	153	7.19e-35	SMART
low complexity region	194	219	N/A	INTRINSIC
low complexity region	235	249	N/A	INTRINSIC
low complexity region	269	283	N/A	INTRINSIC
low complexity region	285	296	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147518

Predicted Effect

probably benign
Transcript: ENSMUST00000151839

SMART Domains

Protein: ENSMUSP00000117351
Gene: ENSMUSG00000029722

Domain	Start	End	E-Value	Type
ArfGap	27	153	7.19e-35	SMART
low complexity region	194	219	N/A	INTRINSIC
low complexity region	235	249	N/A	INTRINSIC
low complexity region	268	282	N/A	INTRINSIC
low complexity region	284	295	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198657

SMART Domains

Protein: ENSMUSP00000143273
Gene: ENSMUSG00000029722

Domain	Start	End	E-Value	Type
low complexity region	24	51	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.4%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: This gene encodes a paralog of the HIV-1 Rev binding proteins that serve as cellular co-factors for HIV-1 Rev protein in shuttling viral pre-mRNAs from the nucleus to the cytoplasm. The encoded protein contains an ADP-ribosylation factor GTPase activating protein (Arf-GAP) zinc finger domain, several phenylalanine-glycine (FG) motifs and asparagine-proline-phenylalanine (NPF) motifs. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ado	T	C	10: 67,383,927 (GRCm39)	D226G	probably benign	Het
Atf2	T	C	2: 73,676,628 (GRCm39)	D122G	possibly damaging	Het
Brd10	A	T	19: 29,693,597 (GRCm39)	D2032E	probably damaging	Het
Cd2bp2	G	A	7: 126,792,996 (GRCm39)	T342M	probably damaging	Het
Cip2a	A	T	16: 48,821,975 (GRCm39)	H201L	probably damaging	Het
Col6a3	T	A	1: 90,739,272 (GRCm39)	I319F	probably damaging	Het
Cst11	T	A	2: 148,613,253 (GRCm39)	Y24F	probably damaging	Het
Cstb	T	A	10: 78,263,170 (GRCm39)	V65E	probably benign	Het
Cyp2j11	G	A	4: 96,195,641 (GRCm39)	H352Y	probably benign	Het
D130043K22Rik	T	A	13: 25,038,475 (GRCm39)		probably benign	Het
Dbh	A	G	2: 27,060,584 (GRCm39)		probably benign	Het
Dhdh	T	C	7: 45,137,528 (GRCm39)	K53R	probably benign	Het
Drc3	A	G	11: 60,261,371 (GRCm39)	Y174C	probably damaging	Het
Ezr	G	T	17: 7,010,126 (GRCm39)	Q308K	probably damaging	Het
F3	A	T	3: 121,525,265 (GRCm39)	N169Y	probably damaging	Het
Fbn2	G	T	18: 58,238,236 (GRCm39)	T587K	probably damaging	Het
Fhl5	A	T	4: 25,200,054 (GRCm39)	V260E	probably benign	Het
Glyr1	A	G	16: 4,854,913 (GRCm39)	I55T	probably damaging	Het
Gm12695	G	C	4: 96,657,972 (GRCm39)	P66A	probably damaging	Het
Gon4l	G	T	3: 88,766,244 (GRCm39)	V428L	probably damaging	Het
Ighv6-5	T	C	12: 114,380,241 (GRCm39)	D92G	probably null	Het
Inhba	A	C	13: 16,200,949 (GRCm39)	K170N	possibly damaging	Het
Kng2	A	G	16: 22,816,046 (GRCm39)	V317A	probably benign	Het
Larp1	T	A	11: 57,940,849 (GRCm39)	D658E	probably damaging	Het
Map3k14	T	C	11: 103,118,500 (GRCm39)	E562G	probably damaging	Het
Megf10	G	T	18: 57,420,965 (GRCm39)	V868F	possibly damaging	Het
Nap1l1	A	C	10: 111,326,884 (GRCm39)	E148D	probably benign	Het
Nlrp4a	A	T	7: 26,149,797 (GRCm39)	H468L	probably damaging	Het
Nphs1	G	T	7: 30,162,633 (GRCm39)	V357L	probably benign	Het
Or10aa3	T	A	1: 173,878,413 (GRCm39)	V158E	probably damaging	Het
Pclo	A	G	5: 14,719,687 (GRCm39)	T1275A	unknown	Het
Pde4d	T	A	13: 110,091,104 (GRCm39)	C35S	possibly damaging	Het
Pkd1l1	A	G	11: 8,825,765 (GRCm39)		probably benign	Het
Pkd2	A	G	5: 104,651,382 (GRCm39)	E910G	probably damaging	Het
Pot1b	T	A	17: 55,960,429 (GRCm39)	M634L	probably benign	Het
Ppp2r5c	C	T	12: 110,541,257 (GRCm39)	Q469*	probably null	Het
Ppp6r2	T	A	15: 89,143,342 (GRCm39)	M163K	probably damaging	Het
Prss43	C	A	9: 110,657,580 (GRCm39)		probably benign	Het
Rb1cc1	C	A	1: 6,334,772 (GRCm39)	N1444K	possibly damaging	Het
Rimoc1	T	C	15: 4,021,350 (GRCm39)		probably benign	Het
Scube2	A	G	7: 109,430,095 (GRCm39)		probably benign	Het
Slamf9	T	C	1: 172,303,082 (GRCm39)	S7P	possibly damaging	Het
Slc35b2	T	A	17: 45,877,782 (GRCm39)	M303K	probably damaging	Het
Slc4a7	T	A	14: 14,796,108 (GRCm38)	F1116I	probably benign	Het
Slco1a8	A	T	6: 141,918,076 (GRCm39)	V600E	possibly damaging	Het
Smarcad1	T	A	6: 65,060,991 (GRCm39)		probably benign	Het
Tamalin	T	C	15: 101,128,433 (GRCm39)	V157A	probably damaging	Het
Tns3	A	C	11: 8,495,227 (GRCm39)		probably null	Het
Zfp282	T	G	6: 47,856,943 (GRCm39)	W59G	probably damaging	Het
Zfp746	C	A	6: 48,041,641 (GRCm39)	A362S	probably benign	Het

Other mutations in Agfg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0020:Agfg2	UTSW	5	137,652,064 (GRCm39)	missense	probably benign	0.22
R0584:Agfg2	UTSW	5	137,665,992 (GRCm39)	missense	probably damaging	1.00
R1692:Agfg2	UTSW	5	137,662,633 (GRCm39)	missense	probably damaging	0.99
R1982:Agfg2	UTSW	5	137,662,515 (GRCm39)	missense	possibly damaging	0.87
R2140:Agfg2	UTSW	5	137,665,378 (GRCm39)	missense	probably damaging	1.00
R3816:Agfg2	UTSW	5	137,652,036 (GRCm39)	missense	probably benign	0.03
R4527:Agfg2	UTSW	5	137,682,798 (GRCm39)	missense	unknown
R4645:Agfg2	UTSW	5	137,682,854 (GRCm39)	utr 5 prime	probably benign
R4965:Agfg2	UTSW	5	137,665,439 (GRCm39)	critical splice acceptor site	probably null
R5022:Agfg2	UTSW	5	137,658,422 (GRCm39)	critical splice donor site	probably null
R5426:Agfg2	UTSW	5	137,666,020 (GRCm39)	missense	probably damaging	1.00
R6140:Agfg2	UTSW	5	137,665,347 (GRCm39)	missense	probably damaging	1.00
R7474:Agfg2	UTSW	5	137,652,130 (GRCm39)	missense	possibly damaging	0.96
R7752:Agfg2	UTSW	5	137,665,966 (GRCm39)	missense	probably damaging	0.96
R7901:Agfg2	UTSW	5	137,665,966 (GRCm39)	missense	probably damaging	0.96
R8172:Agfg2	UTSW	5	137,665,431 (GRCm39)	missense	probably damaging	0.99
R8190:Agfg2	UTSW	5	137,653,664 (GRCm39)	missense	probably benign	0.06
R9005:Agfg2	UTSW	5	137,650,744 (GRCm39)	missense	probably damaging	0.98
R9238:Agfg2	UTSW	5	137,653,622 (GRCm39)	missense	probably damaging	0.99
R9342:Agfg2	UTSW	5	137,652,114 (GRCm39)	missense	probably benign	0.00
R9373:Agfg2	UTSW	5	137,662,476 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGGGGCTGGAACTCAGTGTCAATG -3'
(R):5'- TTCACGAGCACTGCACCCTTCAAG -3'

Sequencing Primer
(F):5'- GTAAATGCAATGCCGTTCACG -3'
(R):5'- CCACTGTGGGAAAAGTGACC -3'

Posted On

2013-08-06