Mutagenetix > Incidental Mutation

Incidental Mutation 'R8798:Arfgef3'

671389

Institutional Source

Beutler Lab

Gene Symbol

Arfgef3

Ensembl Gene

ENSMUSG00000019852

Gene Name

ARFGEF family member 3

Synonyms

B930094H20Rik, BIG3, D10Bwg1379e

MMRRC Submission

068724-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R8798 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18463759-18619506 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18522799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 409 (D409G)

Ref Sequence

ENSEMBL: ENSMUSP00000149210 (fasta)

Gene Model

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

AlphaFold

Q3UGY8

Predicted Effect

probably damaging
Transcript: ENSMUST00000019999
AA Change: D409G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019999
Gene: ENSMUSG00000019852
AA Change: D409G

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: D409G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	G	A	8: 79,937,380 (GRCm39)	R176*	probably null	Het
4921539E11Rik	A	C	4: 103,123,574 (GRCm39)		probably benign	Het
Abcc2	A	G	19: 43,797,105 (GRCm39)	N492S	probably benign	Het
Acox1	T	C	11: 116,065,183 (GRCm39)	Y624C	probably damaging	Het
Aff4	T	C	11: 53,291,335 (GRCm39)		probably benign	Het
Ak9	T	A	10: 41,258,847 (GRCm39)	D781E		Het
Arhgef18	T	A	8: 3,414,645 (GRCm39)	Y8N	probably benign	Het
Blnk	A	G	19: 40,950,795 (GRCm39)	Y119H	probably damaging	Het
Brsk2	T	C	7: 141,541,601 (GRCm39)	L310P	probably damaging	Het
Cgas	G	A	9: 78,350,348 (GRCm39)	R5C	probably benign	Het
Cit	T	A	5: 116,107,102 (GRCm39)	L1078Q	probably damaging	Het
Cpn1	A	T	19: 43,974,675 (GRCm39)	V18D	possibly damaging	Het
Csmd3	A	T	15: 47,595,382 (GRCm39)	Y1115N		Het
Dnah9	A	C	11: 65,796,057 (GRCm39)	V3589G	probably damaging	Het
Dpp9	T	C	17: 56,506,037 (GRCm39)	Y454C	probably damaging	Het
Eif3i	A	G	4: 129,490,717 (GRCm39)	V67A	probably benign	Het
Eif6	T	C	2: 155,664,886 (GRCm39)	N200S	probably damaging	Het
Fbxo10	T	C	4: 45,051,605 (GRCm39)	H502R	possibly damaging	Het
Fcer1a	A	G	1: 173,053,047 (GRCm39)	Y50H	probably benign	Het
Filip1	G	A	9: 79,727,372 (GRCm39)	H416Y	possibly damaging	Het
Frmpd1	A	T	4: 45,285,424 (GRCm39)	N1415I	possibly damaging	Het
Gdpgp1	C	T	7: 79,888,725 (GRCm39)	P252L	probably damaging	Het
Gsap	T	C	5: 21,476,248 (GRCm39)		probably null	Het
Hgs	T	C	11: 120,370,938 (GRCm39)	V598A	probably benign	Het
Irf2	G	T	8: 47,260,349 (GRCm39)	V94L	probably benign	Het
Kalrn	G	T	16: 33,803,225 (GRCm39)	H2675Q	possibly damaging	Het
Klhl33	C	A	14: 51,130,565 (GRCm39)	A50S	possibly damaging	Het
Klk1b11	T	C	7: 43,645,372 (GRCm39)	I15T	probably benign	Het
Lcor	C	T	19: 41,573,698 (GRCm39)	R818W	probably damaging	Het
Lrrn3	A	G	12: 41,503,174 (GRCm39)	M381T	possibly damaging	Het
Ltbr	A	G	6: 125,284,258 (GRCm39)	Y395H	probably benign	Het
Ltf	A	G	9: 110,852,828 (GRCm39)		probably benign	Het
Ly75	A	G	2: 60,154,270 (GRCm39)	F1059S	probably benign	Het
Lypd6	T	A	2: 50,078,774 (GRCm39)	I90N	possibly damaging	Het
Map1a	G	A	2: 121,132,768 (GRCm39)	V1195M	probably benign	Het
Mroh2b	A	T	15: 4,978,191 (GRCm39)	I1320F	probably damaging	Het
Mug2	A	G	6: 122,058,569 (GRCm39)	T1324A	probably damaging	Het
Mylk	G	A	16: 34,719,772 (GRCm39)	V562M	possibly damaging	Het
Myo15b	G	A	11: 115,754,232 (GRCm39)	G911R		Het
Neo1	A	G	9: 58,820,449 (GRCm39)	Y825H	probably damaging	Het
Nfat5	T	G	8: 108,074,321 (GRCm39)	V343G	probably damaging	Het
Nlrp2	A	T	7: 5,330,887 (GRCm39)	I503K	possibly damaging	Het
Or10d5	G	A	9: 39,862,013 (GRCm39)	T18I	probably benign	Het
Or13d1	C	A	4: 52,970,790 (GRCm39)	H56Q	possibly damaging	Het
Or5k16	A	T	16: 58,736,307 (GRCm39)	D232E	probably benign	Het
Or8d2	G	A	9: 38,760,213 (GRCm39)	E268K	probably benign	Het
Pdcl2	T	C	5: 76,472,947 (GRCm39)	D7G	probably damaging	Het
Phyh	C	T	2: 4,923,893 (GRCm39)	R5C	probably damaging	Het
Prr11	A	C	11: 86,996,881 (GRCm39)	S28A	unknown	Het
Psmd13	T	A	7: 140,477,663 (GRCm39)	L190*	probably null	Het
Ptx4	A	G	17: 25,343,716 (GRCm39)	D322G	probably damaging	Het
Rnf40	T	C	7: 127,188,954 (GRCm39)	L109P	probably damaging	Het
Rrp1	T	C	10: 78,245,024 (GRCm39)	T102A	probably damaging	Het
Sema4a	T	G	3: 88,344,004 (GRCm39)	D749A	possibly damaging	Het
Serpina3f	A	T	12: 104,183,702 (GRCm39)	D188V	probably benign	Het
Smarca5	C	A	8: 81,443,137 (GRCm39)	A570S	probably damaging	Het
Spocd1	G	C	4: 129,823,997 (GRCm39)		probably null	Het
Stard9	G	A	2: 120,535,212 (GRCm39)	G3823D	probably benign	Het
Suco	A	G	1: 161,648,004 (GRCm39)	L1094S	probably damaging	Het
Tcf7	T	C	11: 52,151,421 (GRCm39)	D79G	probably damaging	Het
Tdrd12	A	G	7: 35,228,605 (GRCm39)	M39T	probably damaging	Het
Thnsl1	A	G	2: 21,217,209 (GRCm39)	N321S	probably benign	Het
Tmem132c	T	A	5: 127,437,217 (GRCm39)	Y235*	probably null	Het
Tnfaip6	T	C	2: 51,933,824 (GRCm39)	F60L	probably benign	Het
Tnpo3	T	C	6: 29,572,620 (GRCm39)	I411V	probably benign	Het
Trio	A	C	15: 27,851,923 (GRCm39)	V856G	possibly damaging	Het
Trpc2	C	G	7: 101,733,767 (GRCm39)	R239G	probably benign	Het
Ttn	C	T	2: 76,656,476 (GRCm39)	V12502I	unknown	Het
Usf3	A	G	16: 44,040,536 (GRCm39)	D1672G	probably damaging	Het
Usp24	A	G	4: 106,236,436 (GRCm39)	N1011S	probably benign	Het
Vac14	A	G	8: 111,446,519 (GRCm39)	E756G	probably benign	Het
Vmn2r41	A	G	7: 8,164,522 (GRCm39)	L10P	probably damaging	Het
Xrcc5	T	C	1: 72,353,337 (GRCm39)	M115T	probably damaging	Het
Zfp1006	G	A	8: 129,945,779 (GRCm39)	H349Y	probably damaging	Het
Zfp827	G	A	8: 79,916,463 (GRCm39)		probably benign	Het
Zmym1	A	T	4: 126,943,664 (GRCm39)	N241K	possibly damaging	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
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
R8929:Arfgef3	UTSW	10	18,479,203 (GRCm39)	missense	probably damaging	1.00
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'- GCGGAAGTCAGCCTCATTAATTTC -3'
(R):5'- TTTCCCAGCCTGAACATGTTTG -3'

Sequencing Primer
(F):5'- AATTTCCATGGAGTCCCGG -3'
(R):5'- CCTGAACATGTTTGAGTCATTTATTG -3'

Posted On

2021-04-30