Mutagenetix > Incidental Mutation

Incidental Mutation 'R0164:Arfgef3'

24352

Institutional Source

Beutler Lab

Gene Symbol

Arfgef3

Ensembl Gene

ENSMUSG00000019852

Gene Name

ARFGEF family member 3

Synonyms

B930094H20Rik, BIG3, D10Bwg1379e

MMRRC Submission

038440-MU

Accession Numbers

Essential gene?

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

Stock #

R0164 (G1)

Quality Score

210

Status

Not validated

Chromosome

Chromosomal Location

18463759-18619506 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18523663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 369 (I369K)

Ref Sequence

ENSEMBL: ENSMUSP00000019999 (fasta)

Gene Model

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

AlphaFold

Q3UGY8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019999
AA Change: I369K

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000019999
Gene: ENSMUSG00000019852
AA Change: I369K

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: I369K

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

Meta Mutation Damage Score

0.1945

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

69% (18/26)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
4930522L14Rik	T	C	5: 109,884,713 (GRCm39)	K382E	probably damaging	Het
Adck1	A	G	12: 88,422,280 (GRCm39)	E297G	probably damaging	Het
Aldh3a2	C	T	11: 61,139,714 (GRCm39)	V473I	probably benign	Het
Atp1b3	T	C	9: 96,220,762 (GRCm39)	I178V	possibly damaging	Het
Axdnd1	T	C	1: 156,205,956 (GRCm39)	E520G	possibly damaging	Het
BB019430	A	T	10: 58,540,093 (GRCm39)		noncoding transcript	Het
Btbd1	T	A	7: 81,450,751 (GRCm39)	Q343L	probably benign	Het
Catsper1	A	G	19: 5,389,503 (GRCm39)	T473A	possibly damaging	Het
Ccn4	T	C	15: 66,791,059 (GRCm39)	L287P	probably damaging	Het
Chmp6	G	A	11: 119,806,349 (GRCm39)		probably null	Het
Cstdc7	T	A	18: 42,306,608 (GRCm39)	D58E	probably damaging	Het
D130040H23Rik	T	C	8: 69,755,195 (GRCm39)	V200A	possibly damaging	Het
D830013O20Rik	C	T	12: 73,411,105 (GRCm39)		noncoding transcript	Het
Dcaf1	T	A	9: 106,721,344 (GRCm39)	S379T	possibly damaging	Het
Dhx58	T	C	11: 100,586,150 (GRCm39)	I624V	probably benign	Het
Disp3	T	C	4: 148,338,708 (GRCm39)	E821G	probably damaging	Het
Dlc1	T	A	8: 37,066,594 (GRCm39)	E464V	probably damaging	Het
Dnah10	G	A	5: 124,860,898 (GRCm39)	V2151I	probably damaging	Het
Dnah8	G	A	17: 30,967,639 (GRCm39)	G2617D	probably benign	Het
Dnah9	C	A	11: 65,809,630 (GRCm39)	E872*	probably null	Het
Dock9	T	C	14: 121,835,077 (GRCm39)	Y99C	probably damaging	Het
Dpy19l3	T	A	7: 35,416,071 (GRCm39)	I310F	probably damaging	Het
Fggy	A	T	4: 95,725,891 (GRCm39)	I137F	probably damaging	Het
Gm14012	C	T	2: 128,079,936 (GRCm39)		noncoding transcript	Het
Gm14421	A	T	2: 176,748,515 (GRCm39)		noncoding transcript	Het
Grin2a	A	G	16: 9,812,685 (GRCm39)		probably null	Het
Incenp	A	G	19: 9,872,243 (GRCm39)	S72P	probably benign	Het
Klc3	T	A	7: 19,128,851 (GRCm39)	N469Y	possibly damaging	Het
Lrrc42	A	G	4: 107,104,702 (GRCm39)	S88P	probably benign	Het
Lrrc49	G	A	9: 60,587,883 (GRCm39)	T93I	probably benign	Het
Mlycd	A	T	8: 120,134,380 (GRCm39)	Q294L	probably damaging	Het
Mrpl22	T	A	11: 58,062,647 (GRCm39)	I19N	probably benign	Het
Msh3	T	A	13: 92,485,717 (GRCm39)	K202N	probably damaging	Het
Mucl2	C	T	15: 103,929,445 (GRCm39)		probably null	Het
Ncam1	C	T	9: 49,479,709 (GRCm39)	D90N	probably damaging	Het
Nckap5	A	T	1: 125,952,144 (GRCm39)	D1405E	possibly damaging	Het
Ncoa2	A	G	1: 13,256,955 (GRCm39)		probably null	Het
Nlrp1b	A	T	11: 71,054,925 (GRCm39)	W844R	probably damaging	Het
Nmnat1	G	T	4: 149,553,607 (GRCm39)	N168K	possibly damaging	Het
Or5b96	A	G	19: 12,867,809 (GRCm39)	L44P	probably damaging	Het
Ost4	T	C	5: 31,064,803 (GRCm39)	H26R	probably damaging	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Otogl	A	T	10: 107,710,391 (GRCm39)	I566N	probably damaging	Het
Pcyt1a	T	C	16: 32,289,004 (GRCm39)	S282P	probably damaging	Het
Prkcg	G	A	7: 3,377,635 (GRCm39)	E581K	probably damaging	Het
Ralgps2	A	G	1: 156,714,659 (GRCm39)		probably null	Het
Scmh1	T	C	4: 120,387,062 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,391,417 (GRCm39)	H150R	possibly damaging	Het
Sh2b3	T	G	5: 121,967,100 (GRCm39)	T5P	probably damaging	Het
Tdp2	A	G	13: 25,022,222 (GRCm39)	M214V	probably damaging	Het
Tmem204	A	G	17: 25,277,324 (GRCm39)	I187T	probably damaging	Het
Tmem208	T	G	8: 106,061,326 (GRCm39)	D117E	probably benign	Het
Tnks1bp1	C	T	2: 84,889,565 (GRCm39)	P631S	possibly damaging	Het
Tomm70a	T	C	16: 56,968,184 (GRCm39)	V517A	probably damaging	Het
Ttc7	T	C	17: 87,687,323 (GRCm39)	V801A	probably damaging	Het
Txndc5	A	T	13: 38,691,929 (GRCm39)	C146S	probably damaging	Het
Ube4b	G	T	4: 149,444,781 (GRCm39)	T493K	probably damaging	Het
Ufl1	A	T	4: 25,256,008 (GRCm39)	Y504N	probably benign	Het
Ulk3	T	A	9: 57,497,969 (GRCm39)	I90N	probably damaging	Het
Unc13c	T	C	9: 73,602,174 (GRCm39)	I1357M	probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vmn2r91	A	C	17: 18,326,399 (GRCm39)	N228T	probably benign	Het
Zbtb6	G	T	2: 37,319,600 (GRCm39)	Y109*	probably null	Het
Zfp640	G	T	13: 66,819,062 (GRCm39)		noncoding transcript	Het
Zfp640	C	A	13: 66,819,038 (GRCm39)		noncoding transcript	Het
Zfp980	A	G	4: 145,428,567 (GRCm39)	D432G	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
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
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

Posted On

2013-04-16