Mutagenetix > Incidental Mutation

Incidental Mutation 'R0038:Agfg1'

32790

Institutional Source

Beutler Lab

Gene Symbol

Agfg1

Ensembl Gene

ENSMUSG00000026159

Gene Name

ArfGAP with FG repeats 1

Synonyms

D730048C23Rik, Hrb, C130049H11Rik, Rip

MMRRC Submission

038332-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0038 (G1)

Quality Score

177

Status

Validated (trace)

Chromosome

Chromosomal Location

82817204-82878903 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 82863823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063380] [ENSMUST00000113444] [ENSMUST00000186302] [ENSMUST00000187899] [ENSMUST00000189220] [ENSMUST00000190052]

AlphaFold

Q8K2K6

Predicted Effect

probably benign
Transcript: ENSMUST00000063380

SMART Domains

Protein: ENSMUSP00000070250
Gene: ENSMUSG00000026159

Domain	Start	End	E-Value	Type
ArfGap	11	135	9.31e-52	SMART
PDB:2VX8\|D	155	186	3e-6	PDB
low complexity region	214	258	N/A	INTRINSIC
low complexity region	337	353	N/A	INTRINSIC
low complexity region	357	371	N/A	INTRINSIC
internal_repeat_1	415	450	2.43e-6	PROSPERO
low complexity region	452	465	N/A	INTRINSIC
low complexity region	489	510	N/A	INTRINSIC
internal_repeat_1	518	558	2.43e-6	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000113444

SMART Domains

Protein: ENSMUSP00000109071
Gene: ENSMUSG00000026159

Domain	Start	End	E-Value	Type
ArfGap	11	135	4.7e-54	SMART
PDB:2VX8\|D	155	186	3e-6	PDB
low complexity region	214	258	N/A	INTRINSIC
low complexity region	337	353	N/A	INTRINSIC
low complexity region	357	371	N/A	INTRINSIC
internal_repeat_1	415	450	2.62e-6	PROSPERO
low complexity region	452	465	N/A	INTRINSIC
low complexity region	489	510	N/A	INTRINSIC
internal_repeat_1	520	560	2.62e-6	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000186302

SMART Domains

Protein: ENSMUSP00000140785
Gene: ENSMUSG00000026159

Domain	Start	End	E-Value	Type
ArfGap	11	135	4.6e-54	SMART
PDB:2VX8\|D	155	186	3e-6	PDB
low complexity region	214	258	N/A	INTRINSIC
low complexity region	337	353	N/A	INTRINSIC
low complexity region	357	371	N/A	INTRINSIC
internal_repeat_1	415	450	2.62e-6	PROSPERO
low complexity region	452	465	N/A	INTRINSIC
low complexity region	489	510	N/A	INTRINSIC
internal_repeat_1	520	560	2.62e-6	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000187899

SMART Domains

Protein: ENSMUSP00000139503
Gene: ENSMUSG00000026159

Domain	Start	End	E-Value	Type
ArfGap	11	135	4.6e-54	SMART
PDB:2VX8\|D	155	186	3e-6	PDB
low complexity region	215	231	N/A	INTRINSIC
low complexity region	297	313	N/A	INTRINSIC
low complexity region	317	331	N/A	INTRINSIC
internal_repeat_1	375	410	6.63e-6	PROSPERO
low complexity region	412	425	N/A	INTRINSIC
low complexity region	449	470	N/A	INTRINSIC
internal_repeat_1	480	520	6.63e-6	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000189220

SMART Domains

Protein: ENSMUSP00000140170
Gene: ENSMUSG00000026159

Domain	Start	End	E-Value	Type
ArfGap	11	135	9.31e-52	SMART
PDB:2VX8\|D	155	186	3e-6	PDB
low complexity region	214	258	N/A	INTRINSIC
low complexity region	337	353	N/A	INTRINSIC
low complexity region	357	371	N/A	INTRINSIC
internal_repeat_1	415	450	2.43e-6	PROSPERO
low complexity region	452	465	N/A	INTRINSIC
low complexity region	489	510	N/A	INTRINSIC
internal_repeat_1	518	558	2.43e-6	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000190046

Predicted Effect

probably benign
Transcript: ENSMUST00000190052

SMART Domains

Protein: ENSMUSP00000141157
Gene: ENSMUSG00000026159

Domain	Start	End	E-Value	Type
ArfGap	11	135	4.6e-54	SMART
PDB:2VX8\|D	155	186	3e-6	PDB
low complexity region	215	231	N/A	INTRINSIC
low complexity region	297	313	N/A	INTRINSIC
low complexity region	317	331	N/A	INTRINSIC
internal_repeat_1	375	410	2.33e-5	PROSPERO
low complexity region	465	486	N/A	INTRINSIC
internal_repeat_1	496	536	2.33e-5	PROSPERO

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (72/72)

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 related to nucleoporins, a class of proteins that mediate nucleocytoplasmic transport. The encoded protein binds the activation domain of the human immunodeficiency virus Rev protein when Rev is assembled onto its RNA target, and is required for the nuclear export of Rev-directed RNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Male mice homozygous for disruptions in this gene are infertile as a result of abnormalities in spermatogenesis. Otherwise, males and females are normal and live a normal life span. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd28	A	T	14: 31,429,992 (GRCm39)	M892K	probably damaging	Het
Arhgef25	T	C	10: 127,022,734 (GRCm39)		probably benign	Het
Arl9	G	A	5: 77,154,322 (GRCm39)	E17K	probably benign	Het
Bbs9	G	A	9: 22,415,390 (GRCm39)	V105I	probably benign	Het
Celsr1	A	T	15: 85,813,620 (GRCm39)	N1997K	possibly damaging	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Cldn8	A	G	16: 88,359,922 (GRCm39)	M1T	probably null	Het
Clec11a	A	G	7: 43,955,906 (GRCm39)		probably benign	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Col19a1	A	T	1: 24,598,825 (GRCm39)	L56Q	unknown	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cyp2b10	G	A	7: 25,614,287 (GRCm39)	A254T	probably benign	Het
Ddx39a	T	C	8: 84,449,127 (GRCm39)	L305P	probably damaging	Het
Depdc5	A	G	5: 33,026,197 (GRCm39)	E60G	probably benign	Het
Eif2ak2	T	A	17: 79,171,384 (GRCm39)	M340L	probably benign	Het
Etl4	A	T	2: 20,748,385 (GRCm39)	H39L	probably damaging	Het
Fat3	T	C	9: 15,826,306 (GRCm39)	T4549A	probably damaging	Het
Fbxw28	A	T	9: 109,167,608 (GRCm39)	W50R	probably damaging	Het
Ggt7	T	C	2: 155,344,701 (GRCm39)	D214G	probably benign	Het
Gramd1b	G	A	9: 40,228,822 (GRCm39)	T252M	probably damaging	Het
Grin1	T	C	2: 25,187,471 (GRCm39)	N613S	probably null	Het
Hcrtr2	A	T	9: 76,166,963 (GRCm39)	S125T	probably benign	Het
Hr	T	C	14: 70,805,525 (GRCm39)	L1091P	probably damaging	Het
Htr2a	T	G	14: 74,943,687 (GRCm39)	S422R	probably benign	Het
Ighmbp2	A	G	19: 3,312,097 (GRCm39)	S886P	probably damaging	Het
Iqcg	C	A	16: 32,866,012 (GRCm39)	L110F	probably benign	Het
Kirrel3	T	A	9: 34,823,066 (GRCm39)		probably null	Het
Kremen1	A	C	11: 5,157,703 (GRCm39)		probably benign	Het
Lama2	T	C	10: 26,862,793 (GRCm39)	D2990G	probably benign	Het
Lin52	C	G	12: 84,576,499 (GRCm39)	L111V	probably damaging	Het
Myh15	T	C	16: 48,891,504 (GRCm39)		probably benign	Het
Ncor1	A	G	11: 62,283,377 (GRCm39)	F437L	probably damaging	Het
Nlrp1b	A	G	11: 71,062,997 (GRCm39)	S685P	possibly damaging	Het
Oog4	T	C	4: 143,165,514 (GRCm39)	D211G	probably benign	Het
Oscar	A	G	7: 3,619,072 (GRCm39)	V2A	probably benign	Het
Pdzd8	A	G	19: 59,288,028 (GRCm39)	I1124T	possibly damaging	Het
Pgm3	A	T	9: 86,446,726 (GRCm39)		probably benign	Het
Pnpla5	A	G	15: 84,006,714 (GRCm39)	Y90H	probably damaging	Het
Polr1b	C	T	2: 128,957,588 (GRCm39)	R548*	probably null	Het
Ptprg	T	A	14: 12,213,710 (GRCm38)	M1026K	probably damaging	Het
Rab5b	C	T	10: 128,518,772 (GRCm39)	R120Q	probably benign	Het
Rapgef2	T	C	3: 78,976,703 (GRCm39)	I1368V	probably benign	Het
Rnf168	T	C	16: 32,117,813 (GRCm39)	V458A	probably benign	Het
Rnf32	T	C	5: 29,410,652 (GRCm39)		probably benign	Het
Sclt1	T	C	3: 41,583,943 (GRCm39)		probably benign	Het
Serpina12	A	G	12: 104,004,216 (GRCm39)	F139L	probably damaging	Het
Sos2	T	G	12: 69,643,467 (GRCm39)	Q971P	probably damaging	Het
Stag3	T	A	5: 138,299,298 (GRCm39)		probably null	Het
Stard5	T	C	7: 83,285,951 (GRCm39)		probably benign	Het
Stard9	T	A	2: 120,526,313 (GRCm39)	C857S	probably benign	Het
Suclg1	A	G	6: 73,237,486 (GRCm39)	E77G	probably benign	Het
Trpm7	A	G	2: 126,637,388 (GRCm39)	S204P	probably damaging	Het
Ush2a	G	T	1: 188,358,809 (GRCm39)	G2112C	probably benign	Het
Vmn2r15	T	A	5: 109,441,010 (GRCm39)	T283S	possibly damaging	Het
Wdr6	A	T	9: 108,450,168 (GRCm39)	V1120D	probably damaging	Het
Zfp644	T	G	5: 106,782,909 (GRCm39)	E1155A	probably benign	Het

Other mutations in Agfg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Agfg1	APN	1	82,836,124 (GRCm39)	missense	probably damaging	1.00
IGL02066:Agfg1	APN	1	82,871,279 (GRCm39)	missense	probably damaging	1.00
IGL02447:Agfg1	APN	1	82,859,944 (GRCm39)	splice site	probably benign
R0038:Agfg1	UTSW	1	82,863,823 (GRCm39)	splice site	probably benign
R0548:Agfg1	UTSW	1	82,864,152 (GRCm39)	missense	probably damaging	0.97
R0962:Agfg1	UTSW	1	82,864,117 (GRCm39)	missense	probably damaging	1.00
R1213:Agfg1	UTSW	1	82,853,055 (GRCm39)	missense	probably damaging	1.00
R1638:Agfg1	UTSW	1	82,871,259 (GRCm39)	missense	probably damaging	1.00
R4078:Agfg1	UTSW	1	82,860,008 (GRCm39)	missense	possibly damaging	0.94
R4477:Agfg1	UTSW	1	82,853,061 (GRCm39)	missense	probably damaging	1.00
R4780:Agfg1	UTSW	1	82,864,108 (GRCm39)	missense	probably damaging	1.00
R5103:Agfg1	UTSW	1	82,871,288 (GRCm39)	missense	probably damaging	1.00
R5576:Agfg1	UTSW	1	82,848,445 (GRCm39)	missense	probably benign	0.01
R5663:Agfg1	UTSW	1	82,871,173 (GRCm39)	missense	probably damaging	1.00
R6314:Agfg1	UTSW	1	82,836,155 (GRCm39)	missense	probably damaging	1.00
R6699:Agfg1	UTSW	1	82,836,175 (GRCm39)	splice site	probably null
R7266:Agfg1	UTSW	1	82,859,966 (GRCm39)	missense	probably benign	0.00
R7408:Agfg1	UTSW	1	82,860,030 (GRCm39)	missense	probably damaging	1.00
R7474:Agfg1	UTSW	1	82,860,132 (GRCm39)	nonsense	probably null
R8737:Agfg1	UTSW	1	82,871,243 (GRCm39)	missense	probably benign	0.44
R8884:Agfg1	UTSW	1	82,860,110 (GRCm39)	nonsense	probably null
R8887:Agfg1	UTSW	1	82,848,525 (GRCm39)	splice site	probably benign
R9034:Agfg1	UTSW	1	82,853,913 (GRCm39)	nonsense	probably null
R9060:Agfg1	UTSW	1	82,872,254 (GRCm39)	missense	possibly damaging	0.83
R9117:Agfg1	UTSW	1	82,872,216 (GRCm39)	missense	possibly damaging	0.85
R9401:Agfg1	UTSW	1	82,859,958 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- CACAACTTGTaattgaggctttcaagca -3'
(R):5'- GGACCAGTAGCAGCAACAAATGGAT -3'

Sequencing Primer
(F):5'- gttcatcagtttcagtttcccc -3'
(R):5'- TGGATTCGTAGAAGGCGTAGC -3'

Posted On

2013-05-09