Mutagenetix > Incidental Mutation

Incidental Mutation 'R6941:Arfgef3'

540554

Institutional Source

Beutler Lab

Gene Symbol

Arfgef3

Ensembl Gene

ENSMUSG00000019852

Gene Name

ARFGEF family member 3

Synonyms

B930094H20Rik, BIG3, D10Bwg1379e

MMRRC Submission

045055-MU

Accession Numbers

Essential gene?

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

Stock #

R6941 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18463759-18619506 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18501203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1016 (Y1016H)

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: Y1016H

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000019999
Gene: ENSMUSG00000019852
AA Change: Y1016H

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: Y1016H

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.0%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,140,370 (GRCm39)	I1557F	probably damaging	Het
Acad10	A	T	5: 121,787,420 (GRCm39)	D176E	probably damaging	Het
Acta2	A	T	19: 34,229,922 (GRCm39)	V11E	probably damaging	Het
Ampd2	T	C	3: 107,986,609 (GRCm39)	H225R	probably damaging	Het
Atg7	C	T	6: 114,650,639 (GRCm39)	T83M	possibly damaging	Het
AU018091	A	G	7: 3,209,267 (GRCm39)		probably null	Het
Birc2	A	G	9: 7,819,469 (GRCm39)	V481A	probably benign	Het
Cabp1	A	T	5: 115,310,960 (GRCm39)	D295E	probably damaging	Het
Cd180	A	T	13: 102,842,699 (GRCm39)	T582S	probably benign	Het
Cnksr3	A	G	10: 7,076,758 (GRCm39)	S145P	probably damaging	Het
Ddx27	A	G	2: 166,857,297 (GRCm39)	D15G	possibly damaging	Het
Dsc1	T	C	18: 20,230,246 (GRCm39)	Y353C	probably benign	Het
Dsg1c	C	T	18: 20,400,980 (GRCm39)	T161I	probably damaging	Het
Epm2a	A	G	10: 11,266,829 (GRCm39)		probably null	Het
Fat2	T	C	11: 55,152,914 (GRCm39)	H3766R	probably benign	Het
Fjx1	A	G	2: 102,280,903 (GRCm39)	V344A	probably benign	Het
Frmd3	A	G	4: 74,016,363 (GRCm39)	I93V	probably benign	Het
Gbe1	TAGTAAGAGT	TAGT	16: 70,230,444 (GRCm39)		probably benign	Het
Gdf15	A	G	8: 71,082,794 (GRCm39)	L104P	possibly damaging	Het
Glra3	G	A	8: 56,393,961 (GRCm39)	R24Q	probably benign	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
Ighv1-9	A	T	12: 114,547,448 (GRCm39)	M31K	probably benign	Het
Ipmk	G	A	10: 71,183,920 (GRCm39)	G47S	probably null	Het
Itsn2	T	C	12: 4,679,641 (GRCm39)	I150T	probably benign	Het
Kcnq5	T	C	1: 21,476,068 (GRCm39)	Y545C	probably damaging	Het
Klk1b8	C	A	7: 43,602,213 (GRCm39)	H48Q	possibly damaging	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrrc34	T	C	3: 30,678,969 (GRCm39)	Y376C	probably benign	Het
Mast4	A	T	13: 102,941,222 (GRCm39)	D278E	probably damaging	Het
Mtmr3	T	C	11: 4,437,505 (GRCm39)	Y982C	possibly damaging	Het
Ndst4	T	G	3: 125,403,160 (GRCm39)	H422Q	possibly damaging	Het
Nek7	T	C	1: 138,430,376 (GRCm39)	E206G	probably damaging	Het
Nufip2	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	11: 77,577,122 (GRCm39)		probably benign	Het
Or5b99	T	A	19: 12,976,861 (GRCm39)	N170K	possibly damaging	Het
Pglyrp2	T	C	17: 32,635,048 (GRCm39)	Y438C	probably damaging	Het
Pigr	G	T	1: 130,775,064 (GRCm39)	W497L	probably damaging	Het
Pkd2l2	G	T	18: 34,549,936 (GRCm39)	V194L	probably benign	Het
Ppp1r16b	A	T	2: 158,538,068 (GRCm39)	K5M	probably damaging	Het
Psat1	A	T	19: 15,898,307 (GRCm39)	S35R	probably damaging	Het
Qrfprl	G	A	6: 65,424,385 (GRCm39)	M126I	probably damaging	Het
Rab11fip1	G	A	8: 27,646,303 (GRCm39)	Q258*	probably null	Het
Rad51d	A	G	11: 82,780,623 (GRCm39)	L53P	probably damaging	Het
Rell2	G	A	18: 38,091,341 (GRCm39)	A169T	probably benign	Het
Rnf19b	T	C	4: 128,976,572 (GRCm39)	I545T	probably benign	Het
Slc12a1	G	T	2: 125,055,999 (GRCm39)	E843D	possibly damaging	Het
Slc1a4	A	G	11: 20,254,346 (GRCm39)	S507P	probably damaging	Het
Slc6a1	G	A	6: 114,290,473 (GRCm39)	W316*	probably null	Het
Spesp1	A	G	9: 62,180,152 (GRCm39)	L252P	probably damaging	Het
Sphkap	G	A	1: 83,385,811 (GRCm39)		probably benign	Het
Srcap	A	G	7: 127,141,769 (GRCm39)	T1850A	probably damaging	Het
Supv3l1	T	C	10: 62,266,365 (GRCm39)	T604A	possibly damaging	Het
Tacr1	A	G	6: 82,380,846 (GRCm39)	T86A	possibly damaging	Het
Tenm3	T	C	8: 49,127,451 (GRCm39)	R76G	probably damaging	Het
Tmprss6	C	A	15: 78,330,977 (GRCm39)	A419S	probably damaging	Het
Usp54	T	G	14: 20,612,177 (GRCm39)	I880L	probably benign	Het
Wwp2	T	A	8: 108,275,134 (GRCm39)	V377D	probably damaging	Het
Zfp735	A	T	11: 73,581,159 (GRCm39)	E65D	probably benign	Het
Zfy2	T	C	Y: 2,121,491 (GRCm39)	E134G	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
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
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'- TACATTCCCGAACAAGCTCCTG -3'
(R):5'- GGCTGGCCCAATTCAAAAC -3'

Sequencing Primer
(F):5'- CGAACAAGCTCCTGGATGG -3'
(R):5'- TGGCCCAATTCAAAACAAATCTTCTG -3'

Posted On

2018-11-06