Mutagenetix > Incidental Mutation

Incidental Mutation 'R7527:Arfgef3'

583080

Institutional Source

Beutler Lab

Gene Symbol

Arfgef3

Ensembl Gene

ENSMUSG00000019852

Gene Name

ARFGEF family member 3

Synonyms

B930094H20Rik, BIG3, D10Bwg1379e

MMRRC Submission

045599-MU

Accession Numbers

Essential gene?

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

Stock #

R7527 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18463759-18619506 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 18522377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 550 (P550S)

Ref Sequence

ENSEMBL: ENSMUSP00000149210 (fasta)

Gene Model

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

AlphaFold

Q3UGY8

Predicted Effect

probably benign
Transcript: ENSMUST00000019999
AA Change: P550S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000019999
Gene: ENSMUSG00000019852
AA Change: P550S

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 benign
Transcript: ENSMUST00000215836
AA Change: P550S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,218,556 (GRCm39)		probably null	Het
Abcc10	A	G	17: 46,623,830 (GRCm39)	S810P	possibly damaging	Het
Adam22	T	C	5: 8,132,239 (GRCm39)	H138R	possibly damaging	Het
Adcyap1	T	A	17: 93,510,257 (GRCm39)	L95*	probably null	Het
Adgrl4	C	A	3: 151,144,887 (GRCm39)	T12N	probably benign	Het
Alpi	T	C	1: 87,026,677 (GRCm39)	N438S	probably benign	Het
Ankrd44	T	C	1: 54,687,483 (GRCm39)	N979D	probably benign	Het
Ankrd60	A	C	2: 173,419,966 (GRCm39)	S57A	probably benign	Het
Btbd16	A	T	7: 130,422,202 (GRCm39)	D390V	probably damaging	Het
Cacna2d4	T	C	6: 119,248,208 (GRCm39)	V374A	probably benign	Het
Cdcp1	A	T	9: 123,014,172 (GRCm39)	F201I	probably benign	Het
Cdh15	A	T	8: 123,588,865 (GRCm39)	D313V	probably damaging	Het
Cfap157	A	G	2: 32,669,890 (GRCm39)	L231P	possibly damaging	Het
Chl1	T	G	6: 103,688,162 (GRCm39)	C1001G	probably damaging	Het
Cmtr2	A	G	8: 110,948,770 (GRCm39)	H360R	probably damaging	Het
Csmd1	C	T	8: 16,261,732 (GRCm39)	A922T	probably damaging	Het
Fancg	C	T	4: 43,010,116 (GRCm39)		probably benign	Het
Glt8d2	A	T	10: 82,488,403 (GRCm39)	S356T	unknown	Het
Gm19410	T	A	8: 36,269,386 (GRCm39)	C1074S	probably damaging	Het
Gm9195	C	T	14: 72,711,310 (GRCm39)	C376Y	possibly damaging	Het
Gnai3	G	A	3: 108,025,693 (GRCm39)	R129C		Het
Golph3	T	G	15: 12,343,404 (GRCm39)		probably null	Het
H2bc18	T	A	3: 96,177,186 (GRCm39)	V40D	possibly damaging	Het
Hk1	C	A	10: 62,140,561 (GRCm39)	V105F	probably damaging	Het
Hoxd8	A	G	2: 74,536,001 (GRCm39)	Y37C	probably damaging	Het
Inava	T	A	1: 136,142,122 (GRCm39)	D659V	possibly damaging	Het
Jun	G	T	4: 94,939,234 (GRCm39)	P92Q	probably damaging	Het
Klhl14	C	T	18: 21,784,597 (GRCm39)	V277I	probably damaging	Het
Lrrc51	C	T	7: 101,569,843 (GRCm39)		probably null	Het
Man2c1	T	A	9: 57,045,100 (GRCm39)	Y429*	probably null	Het
Myo18a	T	A	11: 77,734,406 (GRCm39)	C1476S	probably benign	Het
Neb	G	C	2: 52,066,635 (GRCm39)	T6155R	probably damaging	Het
Niban3	C	G	8: 72,059,342 (GRCm39)	C568W	probably damaging	Het
Nuf2	T	C	1: 169,326,422 (GRCm39)	E443G	possibly damaging	Het
Or10j5	C	T	1: 172,784,511 (GRCm39)	H50Y	probably benign	Het
Or4c15	A	G	2: 88,760,434 (GRCm39)	V75A	probably benign	Het
Or5d37	A	T	2: 87,923,954 (GRCm39)	C109S	probably damaging	Het
Or7g32	A	G	9: 19,408,685 (GRCm39)	I214V	probably damaging	Het
Osmr	A	G	15: 6,856,603 (GRCm39)	S515P	probably damaging	Het
Pik3r5	T	C	11: 68,367,177 (GRCm39)	L84P	probably damaging	Het
Plcl1	T	C	1: 55,736,273 (GRCm39)	I538T	probably damaging	Het
Plxnb1	G	T	9: 108,929,929 (GRCm39)	V262L	probably damaging	Het
Pprc1	T	C	19: 46,057,804 (GRCm39)	S1320P	unknown	Het
Pramel47	A	G	5: 95,490,409 (GRCm39)	D347G	probably benign	Het
Prap1	G	A	7: 139,676,120 (GRCm39)		probably null	Het
Psg23	A	T	7: 18,348,699 (GRCm39)	V36D	probably damaging	Het
Ptgr1	A	G	4: 58,982,887 (GRCm39)	Y49H	probably damaging	Het
Ptprr	A	G	10: 116,087,104 (GRCm39)	T528A	probably benign	Het
Rapgef6	T	C	11: 54,525,787 (GRCm39)	S541P	unknown	Het
Rnf17	A	T	14: 56,753,895 (GRCm39)	D1534V	probably damaging	Het
Sdk1	T	G	5: 141,778,731 (GRCm39)	S236R	possibly damaging	Het
Sepsecs	A	G	5: 52,801,393 (GRCm39)	M423T	possibly damaging	Het
Serpina1f	T	G	12: 103,658,167 (GRCm39)	Y246S	probably benign	Het
Sftpb	T	A	6: 72,282,048 (GRCm39)	V46E	possibly damaging	Het
Slc4a1ap	G	A	5: 31,691,475 (GRCm39)	V424I	probably benign	Het
Slc5a4b	G	A	10: 75,946,742 (GRCm39)	T10M	probably benign	Het
Slc6a16	T	C	7: 44,922,063 (GRCm39)	W664R	probably damaging	Het
Snx8	T	C	5: 140,341,827 (GRCm39)	E138G	probably benign	Het
Sox6	T	C	7: 115,376,408 (GRCm39)	E108G	probably benign	Het
Sptan1	A	T	2: 29,870,209 (GRCm39)	I120F	probably damaging	Het
Sptbn4	T	C	7: 27,075,015 (GRCm39)	E1452G	possibly damaging	Het
Stac2	T	A	11: 97,930,452 (GRCm39)	E372V	probably damaging	Het
Taco1	A	T	11: 105,962,795 (GRCm39)	I161F	probably damaging	Het
Taf1d	C	A	9: 15,220,133 (GRCm39)	D127E	possibly damaging	Het
Tenm2	T	A	11: 36,097,803 (GRCm39)	N482Y	probably damaging	Het
Tenm3	A	G	8: 48,729,635 (GRCm39)	V1457A	possibly damaging	Het
Tmem200c	A	T	17: 69,148,671 (GRCm39)	H418L	probably benign	Het
Tmem81	T	C	1: 132,435,884 (GRCm39)	V230A	probably benign	Het
Tnn	C	T	1: 159,946,074 (GRCm39)	V915I	possibly damaging	Het
Trav8d-2	A	T	14: 53,280,154 (GRCm39)	Y48F	possibly damaging	Het
Trpm2	T	C	10: 77,801,894 (GRCm39)	N57S	probably benign	Het
Ttn	G	A	2: 76,598,383 (GRCm39)	T19510M	probably damaging	Het
Ubl7	T	C	9: 57,820,167 (GRCm39)	L73P	unknown	Het
Uso1	A	G	5: 92,347,734 (GRCm39)	D845G	possibly damaging	Het
Utrn	G	T	10: 12,277,126 (GRCm39)	P3397Q	possibly damaging	Het
Vmn2r60	AG	A	7: 41,845,158 (GRCm39)		probably null	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
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'- TGACACATCAGACCTCCCTG -3'
(R):5'- TCCATGGGAGTCAGGCAATG -3'

Sequencing Primer
(F):5'- TGCCGCCATGGAATACTGATC -3'
(R):5'- TGAGAGGAGCCCTGACATC -3'

Posted On

2019-10-17