Mutagenetix > Incidental Mutation

Incidental Mutation 'R7266:Agfg1'

564909

Institutional Source

Beutler Lab

Gene Symbol

Agfg1

Ensembl Gene

ENSMUSG00000026159

Gene Name

ArfGAP with FG repeats 1

Synonyms

D730048C23Rik, Hrb, C130049H11Rik, Rip

MMRRC Submission

045389-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7266 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82817204-82878903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 82859966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 278 (V278L)

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 benign
Transcript: ENSMUST00000063380
AA Change: V278L

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000070250
Gene: ENSMUSG00000026159
AA Change: V278L

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: V278L

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000109071
Gene: ENSMUSG00000026159
AA Change: V278L

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 benign
Transcript: ENSMUST00000186302
AA Change: V278L

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000140785
Gene: ENSMUSG00000026159
AA Change: V278L

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: V238L

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

SMART Domains

Protein: ENSMUSP00000139503
Gene: ENSMUSG00000026159
AA Change: V238L

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: V278L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000140170
Gene: ENSMUSG00000026159
AA Change: V278L

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: ENSMUST00000190052
AA Change: V238L

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

SMART Domains

Protein: ENSMUSP00000141157
Gene: ENSMUSG00000026159
AA Change: V238L

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: 99.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	A	8: 25,157,639 (GRCm39)	I104F	probably benign	Het
Adgrg7	C	T	16: 56,590,674 (GRCm39)	V166I	probably benign	Het
Alpk3	A	G	7: 80,742,328 (GRCm39)	E715G	possibly damaging	Het
Ap2m1	A	G	16: 20,362,095 (GRCm39)	Y401C	probably damaging	Het
Arhgef28	C	T	13: 98,101,960 (GRCm39)	S838N	probably benign	Het
Ash2l	A	T	8: 26,317,233 (GRCm39)	Y373*	probably null	Het
Best2	C	T	8: 85,734,393 (GRCm39)	V442I	probably benign	Het
Col4a2	T	C	8: 11,475,542 (GRCm39)		probably null	Het
Fat2	T	A	11: 55,175,856 (GRCm39)	D1619V	probably damaging	Het
Fer1l6	A	T	15: 58,499,446 (GRCm39)	N1272I	probably benign	Het
Gcc1	T	A	6: 28,417,995 (GRCm39)	*779C	probably null	Het
Gm12216	G	A	11: 53,750,077 (GRCm39)		probably benign	Het
Grm2	C	T	9: 106,524,370 (GRCm39)	V311I		Het
Immt	T	A	6: 71,851,689 (GRCm39)	D683E	probably benign	Het
Itga8	T	G	2: 12,237,712 (GRCm39)	D336A	probably damaging	Het
Jhy	T	C	9: 40,872,453 (GRCm39)	T19A	probably benign	Het
Kcnq2	T	C	2: 180,776,885 (GRCm39)	M1V	probably null	Het
Kctd17	A	T	15: 78,317,214 (GRCm39)	I117F	probably damaging	Het
Lrp6	T	C	6: 134,484,364 (GRCm39)	T420A	probably damaging	Het
Manba	T	C	3: 135,223,673 (GRCm39)	S187P	probably damaging	Het
Mef2b	A	T	8: 70,616,938 (GRCm39)	D13V	probably damaging	Het
Mical2	T	C	7: 111,902,963 (GRCm39)	F145L	probably damaging	Het
Mphosph8	T	A	14: 56,922,497 (GRCm39)	D551E	possibly damaging	Het
Mplkipl1	A	G	19: 61,163,973 (GRCm39)	V154A	possibly damaging	Het
Myo10	C	G	15: 25,783,067 (GRCm39)	R1170G	probably damaging	Het
Myo16	A	C	8: 10,322,687 (GRCm39)	Q39P	unknown	Het
Myo1f	A	G	17: 33,820,668 (GRCm39)	E837G	probably benign	Het
Nell2	T	A	15: 95,333,274 (GRCm39)	I128F	possibly damaging	Het
Or1i2	A	G	10: 78,448,448 (GRCm39)	V9A	probably benign	Het
Pcdh15	A	T	10: 74,215,222 (GRCm39)	R659*	probably null	Het
Pcdhga1	A	G	18: 37,973,028 (GRCm39)	Q881R	possibly damaging	Het
Plekhm2	T	G	4: 141,369,770 (GRCm39)	E75A	possibly damaging	Het
Prc1	A	G	7: 79,957,405 (GRCm39)	K357E	possibly damaging	Het
Pxk	T	A	14: 8,146,220 (GRCm38)	C377S	probably benign	Het
Ralgapa2	T	C	2: 146,176,488 (GRCm39)	E1696G	probably damaging	Het
Rbbp6	T	A	7: 122,600,590 (GRCm39)	S1532R	unknown	Het
Scn5a	G	T	9: 119,391,626 (GRCm39)	A22E	probably benign	Het
Sctr	G	A	1: 119,949,955 (GRCm39)	R48Q	probably benign	Het
Siae	T	C	9: 37,534,309 (GRCm39)	V115A	probably damaging	Het
Slc16a6	A	G	11: 109,344,107 (GRCm39)	C563R	probably benign	Het
Sntg1	A	C	1: 8,752,243 (GRCm39)	V58G	possibly damaging	Het
Snx11	C	T	11: 96,663,985 (GRCm39)	V36M	probably damaging	Het
Stk3	C	A	15: 34,959,182 (GRCm39)	S330I	probably benign	Het
Synpo	A	G	18: 60,762,631 (GRCm39)	F92S	probably benign	Het
Tle1	A	G	4: 72,057,924 (GRCm39)		probably null	Het
Tmem117	A	G	15: 94,829,684 (GRCm39)	D173G	possibly damaging	Het
Tmem217b	C	A	17: 29,738,347 (GRCm39)	V140L	probably benign	Het
Tmprss5	T	C	9: 49,025,841 (GRCm39)	W338R	probably benign	Het
Tnfrsf19	T	C	14: 61,212,147 (GRCm39)	T168A	possibly damaging	Het
Trhde	C	T	10: 114,636,776 (GRCm39)	G144S	possibly damaging	Het
Trim56	G	T	5: 137,143,097 (GRCm39)	Q140K	probably damaging	Het
Ttn	C	T	2: 76,562,918 (GRCm39)	V28679M	probably damaging	Het
Ubxn8	G	A	8: 34,113,231 (GRCm39)	R208C	probably damaging	Het
Vmn2r72	G	T	7: 85,387,482 (GRCm39)	S694*	probably null	Het
Wdr38	T	A	2: 38,890,276 (GRCm39)	W137R	probably damaging	Het
Zdhhc6	G	T	19: 55,292,932 (GRCm39)	N271K	probably damaging	Het
Zfyve9	A	G	4: 108,575,744 (GRCm39)	S446P	possibly damaging	Het
Zmynd8	T	C	2: 165,649,492 (GRCm39)	Q867R	possibly damaging	Het
Zswim3	T	C	2: 164,662,402 (GRCm39)	I294T	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
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
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'- AGATGGTTGTCATTTAGCAGTCAC -3'
(R):5'- GTCTAAATTAGCAAGTGCCGC -3'

Sequencing Primer
(F):5'- CATTTAGCAGTCACCAATTTTTAGG -3'
(R):5'- AGCAAGTGCCGCATATTTGTC -3'

Posted On

2019-06-26