Mutagenetix > Incidental Mutation

Incidental Mutation 'R7752:Agfg2'

597289

Institutional Source

Beutler Lab

Gene Symbol

Agfg2

Ensembl Gene

ENSMUSG00000029722

Gene Name

ArfGAP with FG repeats 2

Synonyms

A630095P14Rik, Hrbl

MMRRC Submission

045808-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7752 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137648725-137682988 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 137665966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 98 (F98I)

Ref Sequence

ENSEMBL: ENSMUSP00000098112 (fasta)

Gene Model

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

AlphaFold

Q80WC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000031736
AA Change: F98I

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031736
Gene: ENSMUSG00000029722
AA Change: F98I

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 damaging
Transcript: ENSMUST00000100544
AA Change: F98I

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000098112
Gene: ENSMUSG00000029722
AA Change: F98I

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

probably damaging
Transcript: ENSMUST00000151839
AA Change: F98I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117351
Gene: ENSMUSG00000029722
AA Change: F98I

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

Coding Region Coverage

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

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	A	7: 75,327,006 (GRCm39)	N668K	possibly damaging	Het
Aox4	G	A	1: 58,293,107 (GRCm39)	V868I	not run	Het
Ccdc39	T	C	3: 33,886,766 (GRCm39)	R281G	possibly damaging	Het
Ccnt1	A	T	15: 98,441,797 (GRCm39)	D490E	probably benign	Het
Cfhr2	T	A	1: 139,741,322 (GRCm39)	I218F	probably damaging	Het
Clcn4	T	C	7: 7,296,936 (GRCm39)	K234R	probably benign	Het
Col4a2	A	T	8: 11,479,358 (GRCm39)	D747V	probably benign	Het
Cplane1	A	G	15: 8,299,190 (GRCm39)	E3126G	unknown	Het
Csf1r	T	A	18: 61,243,368 (GRCm39)	L128Q	probably damaging	Het
Dcp1b	G	T	6: 119,152,318 (GRCm39)	R22L	possibly damaging	Het
Ddx6	T	G	9: 44,538,960 (GRCm39)	F256C	probably damaging	Het
Diras1	C	T	10: 80,857,895 (GRCm39)	V119M	probably damaging	Het
Ect2l	T	A	10: 18,017,712 (GRCm39)	D681V	possibly damaging	Het
Eme1	G	T	11: 94,541,645 (GRCm39)	P59Q	probably damaging	Het
Farp1	G	C	14: 121,495,359 (GRCm39)	E605Q	probably damaging	Het
Frem1	G	T	4: 82,877,614 (GRCm39)	T1321K	probably benign	Het
Gcn1	T	A	5: 115,753,627 (GRCm39)	L2326Q	probably damaging	Het
Gpld1	T	A	13: 25,146,758 (GRCm39)	V240E	probably damaging	Het
Gpr4	C	A	7: 18,956,340 (GRCm39)	H87Q	probably damaging	Het
Ifi213	A	T	1: 173,394,784 (GRCm39)	S584T	probably benign	Het
Il36b	C	T	2: 24,048,826 (GRCm39)	T77M	possibly damaging	Het
Inf2	A	G	12: 112,576,118 (GRCm39)	E865G	unknown	Het
Klk1b1	T	C	7: 43,620,669 (GRCm39)	I253T	probably damaging	Het
Lcmt1	G	T	7: 122,969,030 (GRCm39)	M8I	unknown	Het
Mrs2	T	A	13: 25,202,549 (GRCm39)	D64V	possibly damaging	Het
Ms4a20	A	G	19: 11,079,224 (GRCm39)	I148T	probably benign	Het
Muc4	A	G	16: 32,589,108 (GRCm39)	Y755C		Het
Ncoa3	T	A	2: 165,907,688 (GRCm39)	L1099*	probably null	Het
Nlrp6	T	C	7: 140,507,353 (GRCm39)	V873A	possibly damaging	Het
Nup155	C	T	15: 8,145,926 (GRCm39)	P159L	possibly damaging	Het
Or10v1	A	T	19: 11,873,898 (GRCm39)	H171L	probably benign	Het
Or1ak2	A	T	2: 36,827,630 (GRCm39)	L166F	probably damaging	Het
Or4m1	A	T	14: 50,557,573 (GRCm39)	S240T	probably damaging	Het
Pex5	A	G	6: 124,380,860 (GRCm39)	S255P	probably damaging	Het
Pex5	T	C	6: 124,390,977 (GRCm39)	T58A	probably benign	Het
Phip	T	G	9: 82,772,203 (GRCm39)	M1115L	probably benign	Het
Ppl	T	G	16: 4,920,166 (GRCm39)	S410R	probably benign	Het
Ppp1r17	G	A	6: 55,999,441 (GRCm39)	D25N	probably damaging	Het
Pramel51	T	C	12: 88,142,769 (GRCm39)	E478G	probably damaging	Het
Prox2	T	A	12: 85,134,815 (GRCm39)	I489F	probably damaging	Het
Ptprb	C	G	10: 116,205,333 (GRCm39)	P1896A	probably benign	Het
Rgl2	T	C	17: 34,154,799 (GRCm39)	L601P	possibly damaging	Het
Sash1	C	T	10: 8,656,328 (GRCm39)	W221*	probably null	Het
Skint1	A	C	4: 111,876,399 (GRCm39)	T107P	probably damaging	Het
Slc41a2	A	G	10: 83,091,905 (GRCm39)	S453P	possibly damaging	Het
Sox11	A	T	12: 27,391,439 (GRCm39)	N323K	probably damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Thbd	C	A	2: 148,248,894 (GRCm39)	V325L	probably damaging	Het
Tmco5	T	C	2: 116,722,743 (GRCm39)	F288S	probably damaging	Het
Traj16	T	C	14: 54,440,645 (GRCm39)	Y19H	unknown	Het
Trip11	A	G	12: 101,853,233 (GRCm39)	V454A	probably benign	Het
Tsg101	G	T	7: 46,563,183 (GRCm39)	Q24K	probably benign	Het
Ttn	T	C	2: 76,555,370 (GRCm39)	E30545G	probably damaging	Het
Unkl	T	C	17: 25,437,627 (GRCm39)	S200P	probably damaging	Het
Vwa2	T	A	19: 56,897,672 (GRCm39)	I659N	probably damaging	Het
Wipf3	A	G	6: 54,458,896 (GRCm39)	I84V	probably benign	Het
Zfp592	T	G	7: 80,674,469 (GRCm39)	S478A	probably benign	Het
Zfp664	A	T	5: 124,962,839 (GRCm39)	K78*	probably null	Het
Zfp738	A	T	13: 67,821,110 (GRCm39)	L79*	probably null	Het
Zfyve28	C	T	5: 34,382,326 (GRCm39)	R258Q	probably damaging	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
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
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'- GAACCTCTGATTAATGATGTCAGG -3'
(R):5'- CCTGACTGAGACCATCTTCTG -3'

Sequencing Primer
(F):5'- GCCCCACAGTTTATGATCGAATAGG -3'
(R):5'- GACTGAGACCATCTTCTGTGCTG -3'

Posted On

2019-11-26