Mutagenetix > Incidental Mutation

Incidental Mutation 'R7474:Agfg1'

579312

Institutional Source

Beutler Lab

Gene Symbol

Agfg1

Ensembl Gene

ENSMUSG00000026159

Gene Name

ArfGAP with FG repeats 1

Synonyms

D730048C23Rik, Hrb, C130049H11Rik, Rip

MMRRC Submission

045548-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82817204-82878903 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 82860132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 333 (L333*)

Ref Sequence

ENSEMBL: ENSMUSP00000140170 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063380] [ENSMUST00000113444] [ENSMUST00000186043] [ENSMUST00000186302] [ENSMUST00000187899] [ENSMUST00000189220] [ENSMUST00000190052]

AlphaFold

Q8K2K6

Predicted Effect

probably null
Transcript: ENSMUST00000063380
AA Change: L333*

SMART Domains

Protein: ENSMUSP00000070250
Gene: ENSMUSG00000026159
AA Change: L333*

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 null
Transcript: ENSMUST00000113444
AA Change: L333*

SMART Domains

Protein: ENSMUSP00000109071
Gene: ENSMUSG00000026159
AA Change: L333*

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: ENSMUST00000186043

SMART Domains

Protein: ENSMUSP00000140678
Gene: ENSMUSG00000026159

Domain	Start	End	E-Value	Type
ArfGap	1	66	4.1e-5	SMART
PDB:2VX8\|D	86	117	7e-7	PDB
low complexity region	145	189	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000186302
AA Change: L333*

SMART Domains

Protein: ENSMUSP00000140785
Gene: ENSMUSG00000026159
AA Change: L333*

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 null
Transcript: ENSMUST00000187899
AA Change: L293*

SMART Domains

Protein: ENSMUSP00000139503
Gene: ENSMUSG00000026159
AA Change: L293*

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 null
Transcript: ENSMUST00000189220
AA Change: L333*

SMART Domains

Protein: ENSMUSP00000140170
Gene: ENSMUSG00000026159
AA Change: L333*

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 null
Transcript: ENSMUST00000190046
AA Change: L353*

Predicted Effect

probably null
Transcript: ENSMUST00000190052
AA Change: L293*

SMART Domains

Protein: ENSMUSP00000141157
Gene: ENSMUSG00000026159
AA Change: L293*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,278,088 (GRCm39)	C3089*	probably null	Het
Abcc1	A	G	16: 14,290,850 (GRCm39)	T1487A	possibly damaging	Het
Agfg2	C	A	5: 137,652,130 (GRCm39)	V410F	possibly damaging	Het
Amotl2	T	C	9: 102,607,310 (GRCm39)	V706A	probably benign	Het
Apob	A	T	12: 8,059,185 (GRCm39)	T2556S	probably benign	Het
Asb18	T	A	1: 89,920,755 (GRCm39)	H174L	possibly damaging	Het
Atp10a	G	A	7: 58,308,275 (GRCm39)	E25K	unknown	Het
Aup1	T	C	6: 83,031,948 (GRCm39)	L65P	probably benign	Het
Blvra	T	C	2: 126,928,769 (GRCm39)	F86L	probably damaging	Het
Cabp4	T	C	19: 4,189,398 (GRCm39)	D53G	probably benign	Het
Cd300c2	T	A	11: 114,889,122 (GRCm39)	E153V	probably benign	Het
Crxos	A	G	7: 15,636,856 (GRCm39)	E143G	possibly damaging	Het
Csmd2	A	G	4: 128,439,920 (GRCm39)	N3125D		Het
Cyp2c67	T	A	19: 39,605,876 (GRCm39)	Q340L	probably null	Het
Dscam	T	A	16: 96,621,089 (GRCm39)	N540Y	possibly damaging	Het
E2f8	G	A	7: 48,525,508 (GRCm39)	R155W	probably damaging	Het
Ext1	A	T	15: 53,207,885 (GRCm39)	V292D	probably damaging	Het
Extl3	T	C	14: 65,314,090 (GRCm39)	E364G	possibly damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Fsd1	A	T	17: 56,295,149 (GRCm39)	D46V	possibly damaging	Het
Gcnt2	T	A	13: 41,111,733 (GRCm39)	L374H	probably damaging	Het
Gm10309	G	A	17: 86,812,095 (GRCm39)		probably benign	Het
Gm14410	A	T	2: 176,894,618 (GRCm39)		probably null	Het
Gm5114	A	T	7: 39,057,404 (GRCm39)	S738R	probably benign	Het
Gtf3c2	C	A	5: 31,325,100 (GRCm39)	G502W	probably damaging	Het
Insc	G	A	7: 114,368,058 (GRCm39)		probably null	Het
Kcnt2	T	C	1: 140,498,216 (GRCm39)	Y898H	possibly damaging	Het
Kctd19	C	A	8: 106,118,664 (GRCm39)	R299L	probably benign	Het
Klf10	T	C	15: 38,297,446 (GRCm39)	N198S	probably benign	Het
L3mbtl1	A	T	2: 162,808,524 (GRCm39)	D574V	probably damaging	Het
Lamc1	G	A	1: 153,208,011 (GRCm39)	A92V	possibly damaging	Het
Lrrc63	T	A	14: 75,363,643 (GRCm39)	T163S	possibly damaging	Het
Mak	T	A	13: 41,204,956 (GRCm39)	K127N	probably damaging	Het
Mdga2	G	A	12: 66,533,535 (GRCm39)	Q945*	probably null	Het
Mthfr	T	A	4: 148,137,059 (GRCm39)	I519N	possibly damaging	Het
Mtmr2	C	A	9: 13,710,521 (GRCm39)	H357N	probably damaging	Het
Myh13	A	T	11: 67,217,990 (GRCm39)	E21V	possibly damaging	Het
Myh13	A	C	11: 67,258,537 (GRCm39)	Q184P		Het
Nans	T	A	4: 46,502,484 (GRCm39)	L307Q	probably damaging	Het
Ncan	C	A	8: 70,554,691 (GRCm39)	R1042L	possibly damaging	Het
Nrg3	T	C	14: 38,733,956 (GRCm39)	E310G	probably damaging	Het
Obsl1	A	C	1: 75,474,828 (GRCm39)	N857K	probably benign	Het
Olfml2a	T	C	2: 38,850,273 (GRCm39)	V663A	probably damaging	Het
Or14j10	T	C	17: 37,935,277 (GRCm39)	D83G	probably benign	Het
Or51v15-ps1	C	A	7: 103,278,354 (GRCm39)	W271L	unknown	Het
Or52e19b	A	G	7: 103,032,969 (GRCm39)	I80T	probably damaging	Het
Or6d13	G	T	6: 116,517,999 (GRCm39)	C195F	probably damaging	Het
Or8i2	T	C	2: 86,852,898 (GRCm39)		probably benign	Het
Pla2g4a	T	C	1: 149,740,951 (GRCm39)	M363V	possibly damaging	Het
Pramel26	T	C	4: 143,538,269 (GRCm39)	D234G	probably benign	Het
Prickle1	A	T	15: 93,406,552 (GRCm39)	V157D	possibly damaging	Het
Pstk	A	G	7: 130,975,362 (GRCm39)	N105S	probably benign	Het
Ptpn21	A	G	12: 98,703,622 (GRCm39)		probably null	Het
Rnf2	T	A	1: 151,347,467 (GRCm39)	E277D	probably benign	Het
Rnpepl1	T	C	1: 92,846,694 (GRCm39)	F532S	probably benign	Het
Rtn1	C	T	12: 72,355,164 (GRCm39)	A261T	possibly damaging	Het
Ryr2	A	G	13: 11,609,762 (GRCm39)	S4355P	probably benign	Het
Sacs	T	G	14: 61,448,627 (GRCm39)	L3558V	probably benign	Het
Senp6	T	C	9: 80,049,610 (GRCm39)	V1047A	probably damaging	Het
Slco2b1	A	T	7: 99,314,039 (GRCm39)	C515S	probably damaging	Het
Smgc	T	A	15: 91,744,892 (GRCm39)	V732E	possibly damaging	Het
Sorcs1	T	C	19: 50,141,550 (GRCm39)	M1105V	possibly damaging	Het
Spats1	A	G	17: 45,768,087 (GRCm39)	Y160H	possibly damaging	Het
Tnfsf14	T	A	17: 57,497,848 (GRCm39)	D128V		Het
Tns3	T	C	11: 8,480,894 (GRCm39)	Q234R	probably damaging	Het
Uxs1	A	G	1: 43,796,184 (GRCm39)	V306A	possibly damaging	Het
Vac14	T	A	8: 111,363,066 (GRCm39)	V304D	probably damaging	Het
Vangl1	A	G	3: 102,091,565 (GRCm39)	F174L	probably benign	Het
Vav1	A	G	17: 57,606,102 (GRCm39)	E242G	probably benign	Het
Vsir	A	G	10: 60,204,701 (GRCm39)	N305D	probably benign	Het
Vwce	T	A	19: 10,624,305 (GRCm39)	C399S	possibly damaging	Het
Wrn	A	T	8: 33,819,209 (GRCm39)	L248M	probably damaging	Het
Zfp141	T	A	7: 42,125,678 (GRCm39)	K265*	probably null	Het
Zfp735	A	T	11: 73,602,002 (GRCm39)	K315N	possibly damaging	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
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
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'- TTACAGGTGGAAGTGCTGGATC -3'
(R):5'- AGCCACTGAATAGTAGAGCATG -3'

Sequencing Primer
(F):5'- GCTGGATCAGTAAATGCTAATTTTGC -3'
(R):5'- CCACTGAATAGTAGAGCATGTTTTTG -3'

Posted On

2019-10-07