Mutagenetix > Incidental Mutation

Incidental Mutation 'R5103:Agfg1'

392453

Institutional Source

Beutler Lab

Gene Symbol

Agfg1

Ensembl Gene

ENSMUSG00000026159

Gene Name

ArfGAP with FG repeats 1

Synonyms

D730048C23Rik, Hrb, C130049H11Rik, Rip

MMRRC Submission

042691-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5103 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82817204-82878903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82871288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 486 (S486P)

Ref Sequence

ENSEMBL: ENSMUSP00000070250 (fasta)

Gene Model

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

AlphaFold

Q8K2K6

Predicted Effect

probably damaging
Transcript: ENSMUST00000063380
AA Change: S486P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070250
Gene: ENSMUSG00000026159
AA Change: S486P

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
AA Change: S476P

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109071
Gene: ENSMUSG00000026159
AA Change: S476P

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
AA Change: S507P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140785
Gene: ENSMUSG00000026159
AA Change: S507P

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
AA Change: S467P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139503
Gene: ENSMUSG00000026159
AA Change: S467P

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
AA Change: S507P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140170
Gene: ENSMUSG00000026159
AA Change: S507P

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

unknown
Transcript: ENSMUST00000190046
AA Change: S527P

Predicted Effect

probably benign
Transcript: ENSMUST00000190052
AA Change: S483P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141157
Gene: ENSMUSG00000026159
AA Change: S483P

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

0.0612

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

99% (82/83)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl5	G	A	5: 31,051,345 (GRCm39)	R518H	probably damaging	Het
Arhgap18	A	G	10: 26,745,978 (GRCm39)	D283G	probably damaging	Het
Asb1	A	G	1: 91,480,066 (GRCm39)	N162S	possibly damaging	Het
Capn1	A	G	19: 6,059,140 (GRCm39)	Y274H	probably damaging	Het
Cdk5	A	T	5: 24,627,833 (GRCm39)	V30E	probably damaging	Het
Cep290	T	G	10: 100,374,882 (GRCm39)	L1376W	probably damaging	Het
Crybg1	T	A	10: 43,873,944 (GRCm39)	T1055S	probably damaging	Het
Cyp2c70	A	G	19: 40,149,076 (GRCm39)	Y357H	probably damaging	Het
Dlx6	AGG	AG	6: 6,865,180 (GRCm39)		probably null	Het
Eml6	T	A	11: 29,800,905 (GRCm39)	E367V	possibly damaging	Het
Emp1	A	G	6: 135,358,073 (GRCm39)	T140A	probably benign	Het
Ergic3	T	C	2: 155,850,545 (GRCm39)	V74A	probably benign	Het
Fancm	A	T	12: 65,152,632 (GRCm39)	L1029F	probably damaging	Het
Fank1	C	A	7: 133,478,570 (GRCm39)	C210*	probably null	Het
Fbxo31	T	C	8: 122,279,101 (GRCm39)	D462G	probably damaging	Het
Frem1	G	A	4: 82,909,849 (GRCm39)	A736V	probably benign	Het
Fshr	T	C	17: 89,404,796 (GRCm39)	T56A	possibly damaging	Het
Gm5901	A	T	7: 105,026,589 (GRCm39)		probably null	Het
Golga2	A	G	2: 32,193,758 (GRCm39)	E458G	probably benign	Het
Grik2	T	A	10: 49,372,205 (GRCm39)	I335F	probably benign	Het
Grin1	T	A	2: 25,200,433 (GRCm39)	M230L	probably benign	Het
Gtf2f1	C	T	17: 57,311,519 (GRCm39)	G297D	probably damaging	Het
H2-T5	T	C	17: 36,472,577 (GRCm39)		probably benign	Het
Hacd1	T	C	2: 14,045,724 (GRCm39)	T136A	probably damaging	Het
Hdac5	T	A	11: 102,087,109 (GRCm39)	S24C	probably damaging	Het
Jtb	T	C	3: 90,139,394 (GRCm39)		probably benign	Het
Kif1a	C	T	1: 92,974,418 (GRCm39)	G979E	probably damaging	Het
Mark2	T	C	19: 7,261,868 (GRCm39)	M345V	probably damaging	Het
Mfsd14b	A	G	13: 65,234,907 (GRCm39)	V90A	possibly damaging	Het
Micu1	T	C	10: 59,624,806 (GRCm39)	Y283H	possibly damaging	Het
Mmp2	C	T	8: 93,558,413 (GRCm39)	R161*	probably null	Het
Mrpl2	G	A	17: 46,960,964 (GRCm39)	R286Q	probably benign	Het
Msh5	T	C	17: 35,248,215 (GRCm39)	I783V	possibly damaging	Het
Myo3b	T	A	2: 69,926,747 (GRCm39)	F65I	probably benign	Het
Nat10	C	A	2: 103,587,605 (GRCm39)	V37L	probably damaging	Het
Nlrp1a	T	A	11: 70,990,352 (GRCm39)	T967S	probably damaging	Het
Nolc1	A	T	19: 46,070,103 (GRCm39)	K291*	probably null	Het
Or1j18	A	T	2: 36,624,680 (GRCm39)	T116S	probably benign	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Or8d2b	G	T	9: 38,788,872 (GRCm39)	M133I	probably damaging	Het
Or8u8	C	A	2: 86,011,960 (GRCm39)	R165L	probably benign	Het
Paip1	A	G	13: 119,574,515 (GRCm39)	E70G	possibly damaging	Het
Palmd	T	A	3: 116,721,070 (GRCm39)	E127V	probably damaging	Het
Paqr6	T	A	3: 88,275,024 (GRCm39)	C262*	probably null	Het
Pdcd11	A	G	19: 47,112,893 (GRCm39)	H1301R	probably benign	Het
Plce1	C	A	19: 38,755,659 (GRCm39)	D1896E	probably damaging	Het
Ppib	A	G	9: 65,968,747 (GRCm39)		probably null	Het
Pzp	C	T	6: 128,479,192 (GRCm39)	V654M	probably benign	Het
Rab26	T	C	17: 24,753,071 (GRCm39)		probably benign	Het
Recql4	A	G	15: 76,590,956 (GRCm39)	L468P	probably damaging	Het
Retreg1	C	T	15: 25,968,540 (GRCm39)	Q65*	probably null	Het
Rhpn1	C	T	15: 75,586,064 (GRCm39)	T659I	possibly damaging	Het
Rmc1	A	G	18: 12,322,319 (GRCm39)	I591V	probably benign	Het
Slc12a5	C	A	2: 164,834,353 (GRCm39)	H791Q	probably damaging	Het
Slc40a1	G	A	1: 45,958,155 (GRCm39)	Q93*	probably null	Het
Slc4a1	T	C	11: 102,244,087 (GRCm39)	M681V	possibly damaging	Het
Slc6a9	T	A	4: 117,725,352 (GRCm39)	F493L	probably benign	Het
Smc2	A	G	4: 52,459,033 (GRCm39)	E476G	probably damaging	Het
Smco4	G	T	9: 15,456,090 (GRCm39)	E59*	probably null	Het
Sparcl1	C	T	5: 104,233,629 (GRCm39)	M573I	probably damaging	Het
Stat4	T	A	1: 52,111,054 (GRCm39)	L167Q	probably damaging	Het
Sult1e1	C	A	5: 87,724,091 (GRCm39)	V289L	probably benign	Het
Tbc1d4	C	A	14: 101,696,318 (GRCm39)	E877*	probably null	Het
Tenm4	A	T	7: 96,492,164 (GRCm39)	I1033F	probably damaging	Het
Tppp2	T	A	14: 52,156,909 (GRCm39)	F95L	probably benign	Het
Trappc14	A	G	5: 138,260,562 (GRCm39)	V288A	probably benign	Het
Vmn2r41	G	A	7: 8,141,341 (GRCm39)	L708F	probably benign	Het
Washc5	G	A	15: 59,222,018 (GRCm39)	P126L	probably damaging	Het
Xkr4	T	C	1: 3,740,911 (GRCm39)	I221V	probably benign	Het
Xkr5	T	C	8: 18,983,659 (GRCm39)	R628G	probably benign	Het
Zfp207	T	C	11: 80,282,736 (GRCm39)	L233P	probably damaging	Het
Zfp827	T	A	8: 79,797,032 (GRCm39)	C373S	probably 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
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'- GCCACACTGAGGACTGTTTG -3'
(R):5'- TTTACAGTCACCGATGTCTCCTAAC -3'

Sequencing Primer
(F):5'- ACACTGAGGACTGTTTGCGGTATC -3'
(R):5'- CATCAAGGAAATGTATTAAACCACAG -3'

Posted On

2016-06-15