Mutagenetix > Incidental Mutation

Incidental Mutation 'R7318:Arfgef3'

565662

Institutional Source

Beutler Lab

Gene Symbol

Arfgef3

Ensembl Gene

ENSMUSG00000019852

Gene Name

ARFGEF family member 3

Synonyms

B930094H20Rik, BIG3, D10Bwg1379e

MMRRC Submission

045414-MU

Accession Numbers

Essential gene?

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

Stock #

R7318 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18463759-18619506 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18506211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 864 (C864S)

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: C864S

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000019999
Gene: ENSMUSG00000019852
AA Change: C864S

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: C864S

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.4623

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	C	7: 40,643,111 (GRCm39)	L260S	probably benign	Het
9130230L23Rik	A	T	5: 66,145,771 (GRCm39)	S113R	unknown	Het
Abcc5	G	A	16: 20,211,293 (GRCm39)	P557S	probably benign	Het
Acad11	A	G	9: 103,958,466 (GRCm39)	T245A	probably damaging	Het
Acap2	A	G	16: 30,946,155 (GRCm39)	F263L	probably damaging	Het
Ankle2	A	T	5: 110,385,632 (GRCm39)	N327I	probably benign	Het
Appl1	T	C	14: 26,685,617 (GRCm39)	E67G	probably benign	Het
Arhgap20	A	G	9: 51,751,802 (GRCm39)	I418V	probably benign	Het
Arhgef2	A	T	3: 88,539,610 (GRCm39)	N102Y	probably damaging	Het
Car9	G	T	4: 43,513,089 (GRCm39)	E431D	probably damaging	Het
Cbfa2t2	T	C	2: 154,342,374 (GRCm39)	I30T	probably benign	Het
Cd40	A	T	2: 164,904,255 (GRCm39)	D34V	possibly damaging	Het
Chrnb2	T	A	3: 89,670,674 (GRCm39)		probably null	Het
Chsy1	T	G	7: 65,759,977 (GRCm39)		probably null	Het
Cpne6	A	G	14: 55,751,751 (GRCm39)	T245A	possibly damaging	Het
Cpsf1	T	A	15: 76,481,475 (GRCm39)	K1159*	probably null	Het
Crisp1	T	A	17: 40,618,668 (GRCm39)	E64D	possibly damaging	Het
D3Ertd751e	A	G	3: 41,756,986 (GRCm39)		probably null	Het
Dennd11	A	G	6: 40,386,098 (GRCm39)	V333A	possibly damaging	Het
Dnah7b	T	A	1: 46,234,532 (GRCm39)	L1488Q	probably damaging	Het
Dnm2	G	A	9: 21,416,863 (GRCm39)	G799R	possibly damaging	Het
Elp2	G	A	18: 24,739,956 (GRCm39)	V61I	probably damaging	Het
Epb41l3	T	C	17: 69,573,135 (GRCm39)	L388P		Het
Fry	A	T	5: 150,360,458 (GRCm39)	S2035C	probably damaging	Het
Gas8	T	C	8: 124,257,707 (GRCm39)	F385L	probably benign	Het
Ghsr	T	C	3: 27,426,616 (GRCm39)	V224A	possibly damaging	Het
Gstp2	T	A	19: 4,091,065 (GRCm39)	R85W	probably benign	Het
Ighv1-20	T	A	12: 114,687,810 (GRCm39)	I6F	possibly damaging	Het
Inpp4b	T	A	8: 82,798,374 (GRCm39)	M854K	probably damaging	Het
Kif15	A	G	9: 122,817,014 (GRCm39)	E538G	probably damaging	Het
Large2	T	C	2: 92,196,373 (GRCm39)	T485A	probably benign	Het
Lmo3	T	A	6: 138,398,363 (GRCm39)		probably benign	Het
Lyg1	G	A	1: 37,988,936 (GRCm39)	P95S	probably benign	Het
Lyst	A	G	13: 13,932,028 (GRCm39)	H3552R	probably benign	Het
Mtif2	C	T	11: 29,490,115 (GRCm39)	S385L	probably benign	Het
Muc4	A	T	16: 32,575,710 (GRCm39)	I1737F	unknown	Het
Mug1	T	C	6: 121,847,611 (GRCm39)		probably null	Het
Mx1	G	T	16: 97,253,286 (GRCm39)	Q350K	probably benign	Het
Mylk3	G	T	8: 86,085,726 (GRCm39)	D269E	probably benign	Het
Myo3a	A	T	2: 22,448,332 (GRCm39)	K974*	probably null	Het
Nectin4	G	T	1: 171,208,031 (GRCm39)	R141L	probably benign	Het
Nlgn2	T	C	11: 69,716,795 (GRCm39)	H582R	probably damaging	Het
Or51ab3	T	A	7: 103,201,298 (GRCm39)	M102K	probably damaging	Het
Or51e1	T	A	7: 102,359,226 (GRCm39)	Y253*	probably null	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Psmd11	C	A	11: 80,347,128 (GRCm39)	L171I	probably benign	Het
Rad54l	A	G	4: 115,967,906 (GRCm39)	V152A	possibly damaging	Het
Ranbp2	T	A	10: 58,318,909 (GRCm39)	Y2473*	probably null	Het
Sertad1	T	C	7: 27,188,910 (GRCm39)	I77T	possibly damaging	Het
Sesn3	A	T	9: 14,219,873 (GRCm39)	E87D	probably damaging	Het
Slc30a5	A	T	13: 100,950,477 (GRCm39)	S260R	probably benign	Het
Slc6a12	G	A	6: 121,328,972 (GRCm39)	G111S	probably damaging	Het
Slc6a12	T	C	6: 121,328,978 (GRCm39)	Y113H	probably benign	Het
Spag17	T	G	3: 99,847,299 (GRCm39)	M76R	probably benign	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Stard13	G	A	5: 150,986,038 (GRCm39)	Q491*	probably null	Het
Synpo2	T	C	3: 122,910,968 (GRCm39)	S226G	probably benign	Het
Tada2b	G	A	5: 36,641,331 (GRCm39)	T24I	probably benign	Het
Tafa1	T	C	6: 96,092,737 (GRCm39)		probably null	Het
Tmem51	TCCCC	TCCC	4: 141,764,996 (GRCm39)		probably null	Het
Tnnt1	T	A	7: 4,513,547 (GRCm39)		probably null	Het
Usp17lb	T	C	7: 104,490,340 (GRCm39)	I196V	probably benign	Het
Utp20	T	A	10: 88,649,811 (GRCm39)	K466N	possibly damaging	Het
Wdr46	T	C	17: 34,160,859 (GRCm39)		probably null	Het
Zfp287	T	A	11: 62,605,104 (GRCm39)	Q601L	probably damaging	Het
Zfp410	T	C	12: 84,372,464 (GRCm39)	S97P	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
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
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'- TGAGTTCTGACGAGACCCTC -3'
(R):5'- ATCACTGAGTGAAACCTGACC -3'

Sequencing Primer
(F):5'- TACCGAGTGCACAGCTCAGTC -3'
(R):5'- TGACCCAACCCGATCTAATACATTG -3'

Posted On

2019-06-26