Mutagenetix > Incidental Mutation

Incidental Mutation 'R8929:Arfgef3'

679753

Institutional Source

Beutler Lab

Gene Symbol

Arfgef3

Ensembl Gene

ENSMUSG00000019852

Gene Name

ARFGEF family member 3

Synonyms

B930094H20Rik, BIG3, D10Bwg1379e

MMRRC Submission

068773-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R8929 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18463759-18619506 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18479203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1471 (T1471S)

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: T1471S

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000019999
Gene: ENSMUSG00000019852
AA Change: T1471S

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

probably damaging
Transcript: ENSMUST00000215836
AA Change: T1471S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1	A	G	2: 179,814,730 (GRCm39)	K99E	unknown	Het
Agxt2	C	A	15: 10,393,830 (GRCm39)	L375I	probably benign	Het
Akap13	T	C	7: 75,258,752 (GRCm39)	S459P	probably benign	Het
Atxn2l	C	G	7: 126,092,928 (GRCm39)		probably benign	Het
Azi2	C	A	9: 117,879,044 (GRCm39)	T141K	probably damaging	Het
B4galt6	A	G	18: 20,821,422 (GRCm39)	S369P	possibly damaging	Het
BC051019	C	T	7: 109,315,233 (GRCm39)	E341K	probably damaging	Het
Bdh1	G	A	16: 31,275,712 (GRCm39)	D278N	probably benign	Het
Cdh1	ACTCGAAATGATGTGGCTC	ACTC	8: 107,392,870 (GRCm39)		probably benign	Het
Cdipt	T	G	7: 126,578,825 (GRCm39)	D205E	probably damaging	Het
Clec4b1	G	T	6: 123,046,728 (GRCm39)		probably null	Het
Clip4	T	C	17: 72,138,203 (GRCm39)	L467S	probably damaging	Het
Cndp2	A	G	18: 84,693,298 (GRCm39)	I154T	probably benign	Het
Cyp2j5	T	C	4: 96,546,977 (GRCm39)	N179S	possibly damaging	Het
Dpf1	A	T	7: 29,009,174 (GRCm39)	I100F	probably benign	Het
Dppa5a	A	G	9: 78,275,165 (GRCm39)	S46P	probably benign	Het
Epyc	A	G	10: 97,511,607 (GRCm39)	D200G	probably benign	Het
Ern2	C	T	7: 121,769,363 (GRCm39)	A888T	probably benign	Het
Fndc3b	C	T	3: 27,596,253 (GRCm39)	S112N	probably damaging	Het
Fras1	T	C	5: 96,917,366 (GRCm39)	V3462A	probably damaging	Het
Fstl5	T	C	3: 76,615,138 (GRCm39)	I733T	probably damaging	Het
Gdf3	C	T	6: 122,586,756 (GRCm39)	R57Q		Het
Grwd1	A	T	7: 45,480,056 (GRCm39)	D50E	probably damaging	Het
Hgf	G	T	5: 16,798,988 (GRCm39)	D339Y	probably benign	Het
Kat7	T	C	11: 95,196,982 (GRCm39)	D19G	probably damaging	Het
Lefty1	A	G	1: 180,765,290 (GRCm39)	E286G	probably damaging	Het
Lrriq3	T	C	3: 154,893,819 (GRCm39)	F507L	probably damaging	Het
Mcm4	T	A	16: 15,448,289 (GRCm39)	T423S	probably benign	Het
Metap1	T	C	3: 138,174,643 (GRCm39)	K247E	probably benign	Het
Muc4	A	T	16: 32,754,017 (GRCm38)	T1298S	possibly damaging	Het
Muc4	T	G	16: 32,575,285 (GRCm39)	I1290S	probably benign	Het
Nars1	G	T	18: 64,644,895 (GRCm39)	H82Q	probably benign	Het
Ncapg2	A	T	12: 116,415,983 (GRCm39)	E1121V	probably damaging	Het
Nebl	C	A	2: 17,397,991 (GRCm39)	E481*	probably null	Het
Pdap1	T	C	5: 145,069,672 (GRCm39)	E111G	probably damaging	Het
Pds5b	T	C	5: 150,643,379 (GRCm39)	F67S	probably damaging	Het
Pole	T	C	5: 110,445,654 (GRCm39)	F510S	probably damaging	Het
Ptpn21	A	T	12: 98,655,396 (GRCm39)	Y524N	probably damaging	Het
Ptpn4	A	T	1: 119,595,278 (GRCm39)	M887K	probably damaging	Het
Sec24b	T	C	3: 129,803,507 (GRCm39)	D414G	possibly damaging	Het
Sema5b	C	A	16: 35,467,737 (GRCm39)		probably benign	Het
Slain1	A	T	14: 103,923,164 (GRCm39)	T252S	probably damaging	Het
Slc36a3	A	G	11: 55,028,137 (GRCm39)	F164S	probably damaging	Het
Slc39a7	T	C	17: 34,249,964 (GRCm39)	H90R	unknown	Het
Slc44a4	A	T	17: 35,136,508 (GRCm39)	D58V	probably damaging	Het
Slc5a4a	A	G	10: 76,006,617 (GRCm39)	T340A	probably benign	Het
Sod2	C	A	17: 13,233,974 (GRCm39)	N195K	probably damaging	Het
Spart	T	C	3: 55,035,979 (GRCm39)	S572P	possibly damaging	Het
Sytl2	C	T	7: 90,024,810 (GRCm39)	A266V	probably benign	Het
Tbx15	T	A	3: 99,222,219 (GRCm39)	D227E	probably damaging	Het
Tfap2a	A	G	13: 40,882,308 (GRCm39)	V26A	probably benign	Het
Trank1	T	A	9: 111,208,003 (GRCm39)	F1749L	possibly damaging	Het
Trpc6	A	G	9: 8,643,411 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,706,924 (GRCm39)	I9089N	unknown	Het
Tut7	A	G	13: 59,947,942 (GRCm39)	V793A	probably benign	Het
Unc13a	T	C	8: 72,103,835 (GRCm39)	T866A	probably benign	Het
Vmn1r212	T	A	13: 23,067,494 (GRCm39)	S280C	possibly damaging	Het
Vmn2r82	A	G	10: 79,232,541 (GRCm39)	T847A	probably benign	Het
Zer1	A	G	2: 30,000,881 (GRCm39)	L180P	probably damaging	Het
Zfp445	T	G	9: 122,682,732 (GRCm39)	Y403S	probably benign	Het

Other mutations in Arfgef3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:Arfgef3	APN	10	18,536,352 (GRCm39)	missense	probably benign	0.03
IGL00835:Arfgef3	APN	10	18,537,106 (GRCm39)	missense	probably benign
IGL00961:Arfgef3	APN	10	18,486,985 (GRCm39)	missense	probably damaging	1.00
IGL01400:Arfgef3	APN	10	18,528,454 (GRCm39)	missense	probably damaging	1.00
IGL01501:Arfgef3	APN	10	18,476,308 (GRCm39)	missense	possibly damaging	0.93
IGL01595:Arfgef3	APN	10	18,470,660 (GRCm39)	missense	possibly damaging	0.93
IGL01695:Arfgef3	APN	10	18,479,167 (GRCm39)	missense	probably benign	0.00
IGL01774:Arfgef3	APN	10	18,619,363 (GRCm39)	missense	possibly damaging	0.94
IGL02348:Arfgef3	APN	10	18,467,095 (GRCm39)	missense	probably benign	0.04
IGL02371:Arfgef3	APN	10	18,522,287 (GRCm39)	missense	probably benign
IGL02400:Arfgef3	APN	10	18,522,005 (GRCm39)	missense	probably damaging	1.00
IGL02630:Arfgef3	APN	10	18,537,140 (GRCm39)	splice site	probably benign
IGL02815:Arfgef3	APN	10	18,528,299 (GRCm39)	missense	probably damaging	1.00
IGL03178:Arfgef3	APN	10	18,488,973 (GRCm39)	missense	probably damaging	1.00
IGL03182:Arfgef3	APN	10	18,476,292 (GRCm39)	missense	probably damaging	1.00
IGL03267:Arfgef3	APN	10	18,467,630 (GRCm39)	missense	probably damaging	1.00
IGL03294:Arfgef3	APN	10	18,540,660 (GRCm39)	missense	probably damaging	0.97
IGL03410:Arfgef3	APN	10	18,476,238 (GRCm39)	missense	probably damaging	1.00
Bow-wow	UTSW	10	18,522,478 (GRCm39)	nonsense	probably null
R0098:Arfgef3	UTSW	10	18,465,390 (GRCm39)	missense	probably damaging	1.00
R0098:Arfgef3	UTSW	10	18,465,390 (GRCm39)	missense	probably damaging	1.00
R0141:Arfgef3	UTSW	10	18,473,155 (GRCm39)	missense	probably damaging	1.00
R0164:Arfgef3	UTSW	10	18,523,663 (GRCm39)	missense	possibly damaging	0.77
R0164:Arfgef3	UTSW	10	18,523,663 (GRCm39)	missense	possibly damaging	0.77
R0241:Arfgef3	UTSW	10	18,474,962 (GRCm39)	missense	probably damaging	1.00
R0334:Arfgef3	UTSW	10	18,468,029 (GRCm39)	missense	probably damaging	0.98
R0352:Arfgef3	UTSW	10	18,537,135 (GRCm39)	missense	probably benign	0.17
R0415:Arfgef3	UTSW	10	18,488,875 (GRCm39)	splice site	probably benign
R0417:Arfgef3	UTSW	10	18,479,259 (GRCm39)	missense	probably damaging	1.00
R0442:Arfgef3	UTSW	10	18,553,563 (GRCm39)	splice site	probably benign
R0507:Arfgef3	UTSW	10	18,467,369 (GRCm39)	missense	probably damaging	1.00
R0573:Arfgef3	UTSW	10	18,475,036 (GRCm39)	missense	probably damaging	1.00
R0582:Arfgef3	UTSW	10	18,487,038 (GRCm39)	missense	probably damaging	1.00
R0609:Arfgef3	UTSW	10	18,473,179 (GRCm39)	missense	probably benign	0.31
R0826:Arfgef3	UTSW	10	18,465,414 (GRCm39)	missense	probably damaging	0.98
R0919:Arfgef3	UTSW	10	18,465,483 (GRCm39)	missense	possibly damaging	0.89
R0980:Arfgef3	UTSW	10	18,467,866 (GRCm39)	missense	possibly damaging	0.82
R1027:Arfgef3	UTSW	10	18,467,123 (GRCm39)	missense	probably benign	0.02
R1140:Arfgef3	UTSW	10	18,473,096 (GRCm39)	missense	possibly damaging	0.77
R1491:Arfgef3	UTSW	10	18,522,302 (GRCm39)	missense	probably damaging	1.00
R1493:Arfgef3	UTSW	10	18,506,627 (GRCm39)	missense	probably damaging	0.96
R1529:Arfgef3	UTSW	10	18,488,970 (GRCm39)	nonsense	probably null
R1564:Arfgef3	UTSW	10	18,467,452 (GRCm39)	missense	probably damaging	1.00
R1654:Arfgef3	UTSW	10	18,500,896 (GRCm39)	missense	probably null	0.15
R1868:Arfgef3	UTSW	10	18,537,135 (GRCm39)	missense	probably benign	0.17
R1876:Arfgef3	UTSW	10	18,473,104 (GRCm39)	missense	probably damaging	1.00
R1908:Arfgef3	UTSW	10	18,528,511 (GRCm39)	missense	possibly damaging	0.80
R2211:Arfgef3	UTSW	10	18,467,993 (GRCm39)	missense	possibly damaging	0.54
R2316:Arfgef3	UTSW	10	18,492,701 (GRCm39)	missense	probably benign	0.19
R2393:Arfgef3	UTSW	10	18,473,535 (GRCm39)	missense	possibly damaging	0.88
R2407:Arfgef3	UTSW	10	18,553,614 (GRCm39)	missense	possibly damaging	0.63
R3076:Arfgef3	UTSW	10	18,479,278 (GRCm39)	missense	probably damaging	0.99
R3077:Arfgef3	UTSW	10	18,479,278 (GRCm39)	missense	probably damaging	0.99
R3963:Arfgef3	UTSW	10	18,468,025 (GRCm39)	missense	probably damaging	1.00
R4201:Arfgef3	UTSW	10	18,495,530 (GRCm39)	missense	probably benign	0.01
R4241:Arfgef3	UTSW	10	18,500,912 (GRCm39)	missense	probably damaging	1.00
R4244:Arfgef3	UTSW	10	18,506,168 (GRCm39)	missense	probably damaging	1.00
R4395:Arfgef3	UTSW	10	18,473,457 (GRCm39)	missense	probably damaging	1.00
R4455:Arfgef3	UTSW	10	18,483,423 (GRCm39)	missense	probably benign	0.18
R4480:Arfgef3	UTSW	10	18,476,348 (GRCm39)	missense	probably damaging	1.00
R4499:Arfgef3	UTSW	10	18,484,091 (GRCm39)	missense	possibly damaging	0.95
R4589:Arfgef3	UTSW	10	18,521,947 (GRCm39)	missense	probably damaging	1.00
R4635:Arfgef3	UTSW	10	18,510,603 (GRCm39)	missense	probably damaging	1.00
R4776:Arfgef3	UTSW	10	18,529,995 (GRCm39)	missense	probably benign
R4801:Arfgef3	UTSW	10	18,467,654 (GRCm39)	missense	probably benign	0.00
R4802:Arfgef3	UTSW	10	18,467,654 (GRCm39)	missense	probably benign	0.00
R4807:Arfgef3	UTSW	10	18,522,385 (GRCm39)	missense	probably benign
R4828:Arfgef3	UTSW	10	18,528,441 (GRCm39)	missense	probably damaging	0.99
R4861:Arfgef3	UTSW	10	18,483,479 (GRCm39)	missense	probably benign	0.01
R4861:Arfgef3	UTSW	10	18,483,479 (GRCm39)	missense	probably benign	0.01
R4917:Arfgef3	UTSW	10	18,492,638 (GRCm39)	missense	probably damaging	0.99
R4918:Arfgef3	UTSW	10	18,492,638 (GRCm39)	missense	probably damaging	0.99
R4922:Arfgef3	UTSW	10	18,467,934 (GRCm39)	missense	probably damaging	0.97
R4929:Arfgef3	UTSW	10	18,506,599 (GRCm39)	missense	probably benign	0.00
R4937:Arfgef3	UTSW	10	18,465,454 (GRCm39)	missense	probably damaging	0.98
R5290:Arfgef3	UTSW	10	18,476,208 (GRCm39)	missense	probably damaging	1.00
R5410:Arfgef3	UTSW	10	18,486,985 (GRCm39)	missense	probably damaging	0.99
R5807:Arfgef3	UTSW	10	18,523,546 (GRCm39)	splice site	probably null
R5832:Arfgef3	UTSW	10	18,506,168 (GRCm39)	missense	probably damaging	1.00
R5887:Arfgef3	UTSW	10	18,483,413 (GRCm39)	nonsense	probably null
R6272:Arfgef3	UTSW	10	18,522,711 (GRCm39)	missense	probably benign	0.00
R6302:Arfgef3	UTSW	10	18,528,589 (GRCm39)	missense	probably damaging	0.97
R6397:Arfgef3	UTSW	10	18,483,413 (GRCm39)	nonsense	probably null
R6495:Arfgef3	UTSW	10	18,486,950 (GRCm39)	critical splice donor site	probably null
R6707:Arfgef3	UTSW	10	18,496,903 (GRCm39)	missense	probably benign	0.11
R6814:Arfgef3	UTSW	10	18,470,767 (GRCm39)	missense	probably damaging	1.00
R6830:Arfgef3	UTSW	10	18,540,637 (GRCm39)	critical splice donor site	probably null
R6870:Arfgef3	UTSW	10	18,522,478 (GRCm39)	nonsense	probably null
R6941:Arfgef3	UTSW	10	18,501,203 (GRCm39)	missense	possibly damaging	0.66
R7094:Arfgef3	UTSW	10	18,522,187 (GRCm39)	missense	probably damaging	1.00
R7179:Arfgef3	UTSW	10	18,475,015 (GRCm39)	missense	probably damaging	1.00
R7204:Arfgef3	UTSW	10	18,522,210 (GRCm39)	missense	probably damaging	1.00
R7247:Arfgef3	UTSW	10	18,501,139 (GRCm39)	missense	probably benign	0.00
R7249:Arfgef3	UTSW	10	18,506,583 (GRCm39)	missense	possibly damaging	0.62
R7318:Arfgef3	UTSW	10	18,506,211 (GRCm39)	missense	possibly damaging	0.89
R7391:Arfgef3	UTSW	10	18,522,007 (GRCm39)	missense	probably benign	0.05
R7527:Arfgef3	UTSW	10	18,522,377 (GRCm39)	missense	probably benign
R7618:Arfgef3	UTSW	10	18,522,029 (GRCm39)	missense	probably damaging	1.00
R7779:Arfgef3	UTSW	10	18,470,771 (GRCm39)	missense	probably damaging	0.99
R7851:Arfgef3	UTSW	10	18,468,034 (GRCm39)	missense	probably damaging	1.00
R8112:Arfgef3	UTSW	10	18,528,379 (GRCm39)	missense	possibly damaging	0.96
R8133:Arfgef3	UTSW	10	18,486,951 (GRCm39)	critical splice donor site	probably null
R8242:Arfgef3	UTSW	10	18,505,824 (GRCm39)	missense	probably benign	0.25
R8369:Arfgef3	UTSW	10	18,465,477 (GRCm39)	missense	probably benign	0.34
R8396:Arfgef3	UTSW	10	18,528,280 (GRCm39)	critical splice donor site	probably null
R8553:Arfgef3	UTSW	10	18,479,278 (GRCm39)	missense	probably damaging	0.99
R8798:Arfgef3	UTSW	10	18,522,799 (GRCm39)	missense	probably damaging	1.00
R8821:Arfgef3	UTSW	10	18,528,491 (GRCm39)	missense	possibly damaging	0.95
R8831:Arfgef3	UTSW	10	18,528,491 (GRCm39)	missense	possibly damaging	0.95
R8918:Arfgef3	UTSW	10	18,511,453 (GRCm39)	missense	probably benign	0.01
R9001:Arfgef3	UTSW	10	18,522,476 (GRCm39)	missense	probably benign	0.32
R9077:Arfgef3	UTSW	10	18,500,899 (GRCm39)	missense	possibly damaging	0.81
R9258:Arfgef3	UTSW	10	18,465,387 (GRCm39)	missense	probably damaging	1.00
R9267:Arfgef3	UTSW	10	18,475,028 (GRCm39)	missense	probably damaging	1.00
R9358:Arfgef3	UTSW	10	18,492,628 (GRCm39)	missense	probably damaging	1.00
R9388:Arfgef3	UTSW	10	18,505,877 (GRCm39)	missense	probably benign	0.35
R9389:Arfgef3	UTSW	10	18,479,271 (GRCm39)	missense	probably damaging	1.00
R9563:Arfgef3	UTSW	10	18,522,275 (GRCm39)	missense	probably damaging	1.00
R9713:Arfgef3	UTSW	10	18,528,556 (GRCm39)	missense	probably damaging	1.00
X0026:Arfgef3	UTSW	10	18,528,374 (GRCm39)	missense	probably damaging	1.00
Z1176:Arfgef3	UTSW	10	18,510,600 (GRCm39)	missense	probably benign	0.26
Z1176:Arfgef3	UTSW	10	18,484,106 (GRCm39)	missense	probably damaging	0.97
Z1176:Arfgef3	UTSW	10	18,467,185 (GRCm39)	missense	probably damaging	1.00
Z1177:Arfgef3	UTSW	10	18,503,376 (GRCm39)	missense	probably damaging	1.00
Z1177:Arfgef3	UTSW	10	18,483,524 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCATGAAACATCATTGTAGC -3'
(R):5'- GACATCCCAATGCCCTTTGC -3'

Sequencing Primer
(F):5'- ACTGAGCATCTACTGTGAGTGAAAC -3'
(R):5'- CCATTCGTACATGGAATTAGCTCGG -3'

Posted On

2021-08-02