Mutagenetix > Incidental Mutation

Incidental Mutation 'R8112:Arfgef3'

630936

Institutional Source

Beutler Lab

Gene Symbol

Arfgef3

Ensembl Gene

ENSMUSG00000019852

Gene Name

ARFGEF family member 3

Synonyms

B930094H20Rik, D10Bwg1379e, BIG3

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R8112 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18581839-18743949 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18652631 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 336 (V336A)

Ref Sequence

ENSEMBL: ENSMUSP00000149210 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019999] [ENSMUST00000215836]

AlphaFold

Q3UGY8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019999
AA Change: V336A

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000019999
Gene: ENSMUSG00000019852
AA Change: V336A

Domain	Start	End	E-Value	Type
Pfam:DCB	1	170	7.1e-15	PFAM
low complexity region	236	245	N/A	INTRINSIC
low complexity region	276	295	N/A	INTRINSIC
low complexity region	452	462	N/A	INTRINSIC
Sec7	582	794	6e-54	SMART
Blast:Sec7	798	873	3e-20	BLAST
low complexity region	927	940	N/A	INTRINSIC
Pfam:DUF1981	1237	1312	1.9e-14	PFAM
low complexity region	1641	1652	N/A	INTRINSIC
low complexity region	1710	1723	N/A	INTRINSIC
low complexity region	1838	1856	N/A	INTRINSIC
low complexity region	2088	2099	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215836
AA Change: V336A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 95.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased insulin granule biogenesis and insulin secretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,314,624	V3002A	probably benign	Het
Aifm3	T	C	16: 17,502,940	V422A	probably damaging	Het
Alx3	G	T	3: 107,604,984	E313*	probably null	Het
Art5	A	T	7: 102,098,011	V187E	probably benign	Het
Atxn1	A	G	13: 45,567,957	V154A	probably benign	Het
B3galt1	A	G	2: 68,118,358	D139G	probably damaging	Het
BC005561	T	C	5: 104,521,635	F1341S	probably benign	Het
Cbx5	A	G	15: 103,199,744	V158A	probably benign	Het
Cdca7l	T	C	12: 117,877,044		probably null	Het
Cecr2	T	C	6: 120,762,214	S1301P	probably benign	Het
Chmp3	T	A	6: 71,561,028	S80T	probably benign	Het
Cyp2g1	T	A	7: 26,819,461	D427E	probably benign	Het
Depdc5	G	A	5: 32,968,706	V1199I	possibly damaging	Het
Ehmt1	G	T	2: 24,863,384	L335M	probably damaging	Het
Elfn2	A	G	15: 78,673,435	V304A	probably damaging	Het
Emc1	C	T	4: 139,367,187	R684W	probably benign	Het
Eme2	A	T	17: 24,894,835	V72E	probably damaging	Het
Fam208b	A	T	13: 3,569,516	D2238E	probably damaging	Het
Gen1	T	A	12: 11,254,373	K230*	probably null	Het
Gfap	T	A	11: 102,897,102	I6F	probably benign	Het
Gm11639	T	C	11: 104,950,200	V3643A	unknown	Het
Grid2	T	C	6: 63,908,907	S96P	probably damaging	Het
H2-M2	A	G	17: 37,483,492	L13P	unknown	Het
Hps4	T	G	5: 112,370,111	C323W	probably benign	Het
Ing3	A	G	6: 21,952,182	K52E	probably damaging	Het
Ippk	C	T	13: 49,446,342	P226S		Het
Klhl3	C	T	13: 58,013,863	V473M	possibly damaging	Het
Krt4	T	A	15: 101,920,289	N380I	probably damaging	Het
Lrp1	A	T	10: 127,605,846	C174S	probably damaging	Het
Lrrc8e	T	C	8: 4,235,575	I600T	probably benign	Het
Malt1	T	C	18: 65,449,609		probably null	Het
Mindy1	T	C	3: 95,294,811	L333P	probably damaging	Het
Mrgprb1	A	G	7: 48,447,934	S77P	probably damaging	Het
Mtus2	G	T	5: 148,076,903	E169*	probably null	Het
Muc5b	A	G	7: 141,862,028	T2904A	possibly damaging	Het
Noxa1	C	T	2: 25,092,541		probably null	Het
Ogfod3	G	A	11: 121,204,550	R5W	probably damaging	Het
Olfr1312	T	A	2: 112,042,637	I132F	probably damaging	Het
Olfr1504	A	G	19: 13,887,389	S274P	probably damaging	Het
Olfr855	T	A	9: 19,584,724	F62L	probably benign	Het
Pgm3	C	A	9: 86,564,775	R230L	probably benign	Het
Plpbp	A	G	8: 27,046,041	I121V	unknown	Het
Prl8a9	T	C	13: 27,559,372	D150G	probably benign	Het
Psapl1	A	G	5: 36,205,575	N504D	probably benign	Het
Ptchd4	A	C	17: 42,503,175	N656H	probably benign	Het
Ptprs	A	T	17: 56,434,532	Y577*	probably null	Het
Rasgef1c	A	G	11: 49,967,401	Y263C	probably damaging	Het
Rinl	A	G	7: 28,790,589		probably null	Het
Scd4	T	C	19: 44,337,506	F100L	probably benign	Het
Scgb2b20	T	G	7: 33,364,544	R100S	probably benign	Het
Scn8a	C	T	15: 101,029,837	A1399V	probably benign	Het
Slc22a7	A	G	17: 46,436,830	V267A	probably benign	Het
Slc7a11	T	C	3: 50,417,991	E263G	possibly damaging	Het
Slmap	A	G	14: 26,422,548	L728P	probably damaging	Het
Smarcb1	A	T	10: 75,910,152		probably null	Het
Sspn	T	C	6: 145,955,635	V80A	possibly damaging	Het
Terb1	T	C	8: 104,468,767	T581A	probably benign	Het
Themis	A	G	10: 28,797,506	*596W	probably null	Het
Trac	T	C	14: 54,223,100		probably benign	Het
Trim37	T	C	11: 87,218,267	F940S	possibly damaging	Het
Trpa1	T	C	1: 14,904,266	T231A	probably benign	Het
Ttn	T	C	2: 76,750,185	I23455V	probably benign	Het
Wap	G	T	11: 6,636,724	T125K	probably benign	Het
Wdfy4	G	A	14: 33,104,115	P1193L		Het
Zfp85	T	C	13: 67,748,774	D393G	possibly damaging	Het

Other mutations in Arfgef3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:Arfgef3	APN	10	18660604	missense	probably benign	0.03
IGL00835:Arfgef3	APN	10	18661358	missense	probably benign
IGL00961:Arfgef3	APN	10	18611237	missense	probably damaging	1.00
IGL01400:Arfgef3	APN	10	18652706	missense	probably damaging	1.00
IGL01501:Arfgef3	APN	10	18600560	missense	possibly damaging	0.93
IGL01595:Arfgef3	APN	10	18594912	missense	possibly damaging	0.93
IGL01695:Arfgef3	APN	10	18603419	missense	probably benign	0.00
IGL01774:Arfgef3	APN	10	18743615	missense	possibly damaging	0.94
IGL02348:Arfgef3	APN	10	18591347	missense	probably benign	0.04
IGL02371:Arfgef3	APN	10	18646539	missense	probably benign
IGL02400:Arfgef3	APN	10	18646257	missense	probably damaging	1.00
IGL02630:Arfgef3	APN	10	18661392	splice site	probably benign
IGL02815:Arfgef3	APN	10	18652551	missense	probably damaging	1.00
IGL03178:Arfgef3	APN	10	18613225	missense	probably damaging	1.00
IGL03182:Arfgef3	APN	10	18600544	missense	probably damaging	1.00
IGL03267:Arfgef3	APN	10	18591882	missense	probably damaging	1.00
IGL03294:Arfgef3	APN	10	18664912	missense	probably damaging	0.97
IGL03410:Arfgef3	APN	10	18600490	missense	probably damaging	1.00
Bow-wow	UTSW	10	18646730	nonsense	probably null
R0098:Arfgef3	UTSW	10	18589642	missense	probably damaging	1.00
R0098:Arfgef3	UTSW	10	18589642	missense	probably damaging	1.00
R0141:Arfgef3	UTSW	10	18597407	missense	probably damaging	1.00
R0164:Arfgef3	UTSW	10	18647915	missense	possibly damaging	0.77
R0164:Arfgef3	UTSW	10	18647915	missense	possibly damaging	0.77
R0241:Arfgef3	UTSW	10	18599214	missense	probably damaging	1.00
R0334:Arfgef3	UTSW	10	18592281	missense	probably damaging	0.98
R0352:Arfgef3	UTSW	10	18661387	missense	probably benign	0.17
R0415:Arfgef3	UTSW	10	18613127	splice site	probably benign
R0417:Arfgef3	UTSW	10	18603511	missense	probably damaging	1.00
R0442:Arfgef3	UTSW	10	18677815	splice site	probably benign
R0507:Arfgef3	UTSW	10	18591621	missense	probably damaging	1.00
R0573:Arfgef3	UTSW	10	18599288	missense	probably damaging	1.00
R0582:Arfgef3	UTSW	10	18611290	missense	probably damaging	1.00
R0609:Arfgef3	UTSW	10	18597431	missense	probably benign	0.31
R0826:Arfgef3	UTSW	10	18589666	missense	probably damaging	0.98
R0919:Arfgef3	UTSW	10	18589735	missense	possibly damaging	0.89
R0980:Arfgef3	UTSW	10	18592118	missense	possibly damaging	0.82
R1027:Arfgef3	UTSW	10	18591375	missense	probably benign	0.02
R1140:Arfgef3	UTSW	10	18597348	missense	possibly damaging	0.77
R1491:Arfgef3	UTSW	10	18646554	missense	probably damaging	1.00
R1493:Arfgef3	UTSW	10	18630879	missense	probably damaging	0.96
R1529:Arfgef3	UTSW	10	18613222	nonsense	probably null
R1564:Arfgef3	UTSW	10	18591704	missense	probably damaging	1.00
R1654:Arfgef3	UTSW	10	18625148	missense	probably null	0.15
R1868:Arfgef3	UTSW	10	18661387	missense	probably benign	0.17
R1876:Arfgef3	UTSW	10	18597356	missense	probably damaging	1.00
R1908:Arfgef3	UTSW	10	18652763	missense	possibly damaging	0.80
R2211:Arfgef3	UTSW	10	18592245	missense	possibly damaging	0.54
R2316:Arfgef3	UTSW	10	18616953	missense	probably benign	0.19
R2393:Arfgef3	UTSW	10	18597787	missense	possibly damaging	0.88
R2407:Arfgef3	UTSW	10	18677866	missense	possibly damaging	0.63
R3076:Arfgef3	UTSW	10	18603530	missense	probably damaging	0.99
R3077:Arfgef3	UTSW	10	18603530	missense	probably damaging	0.99
R3963:Arfgef3	UTSW	10	18592277	missense	probably damaging	1.00
R4201:Arfgef3	UTSW	10	18619782	missense	probably benign	0.01
R4241:Arfgef3	UTSW	10	18625164	missense	probably damaging	1.00
R4244:Arfgef3	UTSW	10	18630420	missense	probably damaging	1.00
R4395:Arfgef3	UTSW	10	18597709	missense	probably damaging	1.00
R4455:Arfgef3	UTSW	10	18607675	missense	probably benign	0.18
R4480:Arfgef3	UTSW	10	18600600	missense	probably damaging	1.00
R4499:Arfgef3	UTSW	10	18608343	missense	possibly damaging	0.95
R4589:Arfgef3	UTSW	10	18646199	missense	probably damaging	1.00
R4635:Arfgef3	UTSW	10	18634855	missense	probably damaging	1.00
R4776:Arfgef3	UTSW	10	18654247	missense	probably benign
R4801:Arfgef3	UTSW	10	18591906	missense	probably benign	0.00
R4802:Arfgef3	UTSW	10	18591906	missense	probably benign	0.00
R4807:Arfgef3	UTSW	10	18646637	missense	probably benign
R4828:Arfgef3	UTSW	10	18652693	missense	probably damaging	0.99
R4861:Arfgef3	UTSW	10	18607731	missense	probably benign	0.01
R4861:Arfgef3	UTSW	10	18607731	missense	probably benign	0.01
R4917:Arfgef3	UTSW	10	18616890	missense	probably damaging	0.99
R4918:Arfgef3	UTSW	10	18616890	missense	probably damaging	0.99
R4922:Arfgef3	UTSW	10	18592186	missense	probably damaging	0.97
R4929:Arfgef3	UTSW	10	18630851	missense	probably benign	0.00
R4937:Arfgef3	UTSW	10	18589706	missense	probably damaging	0.98
R5290:Arfgef3	UTSW	10	18600460	missense	probably damaging	1.00
R5410:Arfgef3	UTSW	10	18611237	missense	probably damaging	0.99
R5807:Arfgef3	UTSW	10	18647798	splice site	probably null
R5832:Arfgef3	UTSW	10	18630420	missense	probably damaging	1.00
R5887:Arfgef3	UTSW	10	18607665	nonsense	probably null
R6272:Arfgef3	UTSW	10	18646963	missense	probably benign	0.00
R6302:Arfgef3	UTSW	10	18652841	missense	probably damaging	0.97
R6397:Arfgef3	UTSW	10	18607665	nonsense	probably null
R6495:Arfgef3	UTSW	10	18611202	critical splice donor site	probably null
R6707:Arfgef3	UTSW	10	18621155	missense	probably benign	0.11
R6814:Arfgef3	UTSW	10	18595019	missense	probably damaging	1.00
R6830:Arfgef3	UTSW	10	18664889	critical splice donor site	probably null
R6870:Arfgef3	UTSW	10	18646730	nonsense	probably null
R6941:Arfgef3	UTSW	10	18625455	missense	possibly damaging	0.66
R7094:Arfgef3	UTSW	10	18646439	missense	probably damaging	1.00
R7179:Arfgef3	UTSW	10	18599267	missense	probably damaging	1.00
R7204:Arfgef3	UTSW	10	18646462	missense	probably damaging	1.00
R7247:Arfgef3	UTSW	10	18625391	missense	probably benign	0.00
R7249:Arfgef3	UTSW	10	18630835	missense	possibly damaging	0.62
R7318:Arfgef3	UTSW	10	18630463	missense	possibly damaging	0.89
R7391:Arfgef3	UTSW	10	18646259	missense	probably benign	0.05
R7527:Arfgef3	UTSW	10	18646629	missense	probably benign
R7618:Arfgef3	UTSW	10	18646281	missense	probably damaging	1.00
R7779:Arfgef3	UTSW	10	18595023	missense	probably damaging	0.99
R7851:Arfgef3	UTSW	10	18592286	missense	probably damaging	1.00
R8133:Arfgef3	UTSW	10	18611203	critical splice donor site	probably null
R8242:Arfgef3	UTSW	10	18630076	missense	probably benign	0.25
R8369:Arfgef3	UTSW	10	18589729	missense	probably benign	0.34
R8396:Arfgef3	UTSW	10	18652532	critical splice donor site	probably null
R8553:Arfgef3	UTSW	10	18603530	missense	probably damaging	0.99
R8798:Arfgef3	UTSW	10	18647051	missense	probably damaging	1.00
R8821:Arfgef3	UTSW	10	18652743	missense	possibly damaging	0.95
R8831:Arfgef3	UTSW	10	18652743	missense	possibly damaging	0.95
R8918:Arfgef3	UTSW	10	18635705	missense	probably benign	0.01
R8929:Arfgef3	UTSW	10	18603455	missense	probably damaging	1.00
R9001:Arfgef3	UTSW	10	18646728	missense	probably benign	0.32
R9077:Arfgef3	UTSW	10	18625151	missense	possibly damaging	0.81
R9258:Arfgef3	UTSW	10	18589639	missense	probably damaging	1.00
R9267:Arfgef3	UTSW	10	18599280	missense	probably damaging	1.00
R9358:Arfgef3	UTSW	10	18616880	missense	probably damaging	1.00
R9388:Arfgef3	UTSW	10	18630129	missense	probably benign	0.35
R9389:Arfgef3	UTSW	10	18603523	missense	probably damaging	1.00
R9563:Arfgef3	UTSW	10	18646527	missense	probably damaging	1.00
R9713:Arfgef3	UTSW	10	18652808	missense	probably damaging	1.00
X0026:Arfgef3	UTSW	10	18652626	missense	probably damaging	1.00
Z1176:Arfgef3	UTSW	10	18591437	missense	probably damaging	1.00
Z1176:Arfgef3	UTSW	10	18608358	missense	probably damaging	0.97
Z1176:Arfgef3	UTSW	10	18634852	missense	probably benign	0.26
Z1177:Arfgef3	UTSW	10	18607776	missense	probably damaging	1.00
Z1177:Arfgef3	UTSW	10	18627628	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCATATAGGACACTGCATAGAG -3'
(R):5'- TCTTCCCAGGAAAAGCCTCTG -3'

Sequencing Primer
(F):5'- CACTGCATAGAGATTCCTGTGGAC -3'
(R):5'- AGGAAAAGCCTCTGCCCTG -3'

Posted On

2020-06-30