Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02667:Arf5'

302767

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arf5

Ensembl Gene

ENSMUSG00000020440

Gene Name

ADP-ribosylation factor 5

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

IGL02667

Quality Score

Status

Chromosome

Chromosomal Location

28423603-28426601 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 28425198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 95 (N95K)

Ref Sequence

ENSEMBL: ENSMUSP00000127281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020717] [ENSMUST00000031719] [ENSMUST00000064377] [ENSMUST00000090511] [ENSMUST00000169841] [ENSMUST00000170767]

AlphaFold

P84084

Predicted Effect

probably damaging
Transcript: ENSMUST00000020717
AA Change: N95K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020717
Gene: ENSMUSG00000020440
AA Change: N95K

Domain	Start	End	E-Value	Type
ARF	1	180	5.83e-121	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000031719

SMART Domains

Protein: ENSMUSP00000031719
Gene: ENSMUSG00000029707

Domain	Start	End	E-Value	Type
Pfam:Fascin	24	138	1e-29	PFAM
SCOP:d1dfca2	146	260	2e-48	SMART
Pfam:Fascin	271	381	2.1e-26	PFAM
SCOP:d1dfca4	386	498	3e-53	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000064377

SMART Domains

Protein: ENSMUSP00000067395
Gene: ENSMUSG00000029708

Domain	Start	End	E-Value	Type
coiled coil region	13	61	N/A	INTRINSIC
low complexity region	93	109	N/A	INTRINSIC
low complexity region	130	153	N/A	INTRINSIC
coiled coil region	156	315	N/A	INTRINSIC
low complexity region	408	418	N/A	INTRINSIC
low complexity region	432	443	N/A	INTRINSIC
low complexity region	479	491	N/A	INTRINSIC
Blast:H2B	492	590	3e-8	BLAST
low complexity region	613	631	N/A	INTRINSIC
coiled coil region	659	701	N/A	INTRINSIC
Grip	719	766	8.28e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000090511

SMART Domains

Protein: ENSMUSP00000087997
Gene: ENSMUSG00000029708

Domain	Start	End	E-Value	Type
coiled coil region	13	61	N/A	INTRINSIC
low complexity region	93	109	N/A	INTRINSIC
low complexity region	130	153	N/A	INTRINSIC
coiled coil region	156	315	N/A	INTRINSIC
low complexity region	408	418	N/A	INTRINSIC
low complexity region	432	443	N/A	INTRINSIC
low complexity region	479	491	N/A	INTRINSIC
Blast:H2B	492	590	3e-8	BLAST
low complexity region	613	631	N/A	INTRINSIC
coiled coil region	659	701	N/A	INTRINSIC
Grip	719	766	8.28e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165455

SMART Domains

Protein: ENSMUSP00000132415
Gene: ENSMUSG00000029708

Domain	Start	End	E-Value	Type
coiled coil region	5	162	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000169841
AA Change: N95K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127281
Gene: ENSMUSG00000020440
AA Change: N95K

Domain	Start	End	E-Value	Type
ARF	1	180	5.83e-121	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202028

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the human ADP-ribosylation factor (ARF) gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). The members of each class share a common gene organization. [provided by RefSeq, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6530409C15Rik	A	G	6: 28,217,670 (GRCm39)		noncoding transcript	Het
Akr1e1	G	A	13: 4,645,666 (GRCm39)	P174L	possibly damaging	Het
Atl3	T	C	19: 7,486,781 (GRCm39)	F39L	possibly damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Cyp2a12	T	C	7: 26,730,583 (GRCm39)	S183P	probably damaging	Het
Dicer1	T	A	12: 104,681,165 (GRCm39)	R449S	probably damaging	Het
Dlec1	T	C	9: 118,956,534 (GRCm39)	I736T	probably benign	Het
Eny2	T	A	15: 44,292,984 (GRCm39)	M12K	possibly damaging	Het
Fbxl21	C	T	13: 56,684,942 (GRCm39)	R349C	probably benign	Het
Gstm2	A	G	3: 107,893,424 (GRCm39)	L13P	probably damaging	Het
Gucy2g	G	A	19: 55,194,609 (GRCm39)	T936M	possibly damaging	Het
Mbp	G	T	18: 82,572,740 (GRCm39)	K12N	probably damaging	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Myo18a	A	G	11: 77,748,678 (GRCm39)		probably benign	Het
Nr2f2	T	C	7: 70,007,733 (GRCm39)	S117G	probably damaging	Het
Pi4k2b	T	C	5: 52,907,947 (GRCm39)		probably benign	Het
Pi4ka	A	G	16: 17,113,325 (GRCm39)	F1504L	possibly damaging	Het
Ppm1d	T	C	11: 85,223,111 (GRCm39)	W239R	probably damaging	Het
Setd1b	T	A	5: 123,295,560 (GRCm39)	S1043T	unknown	Het
Tgfbrap1	T	C	1: 43,106,780 (GRCm39)	I298V	probably benign	Het
Tmem190	T	A	7: 4,786,157 (GRCm39)	D20E	probably benign	Het
Tph2	A	T	10: 114,915,950 (GRCm39)	C408S	probably benign	Het
Trmt44	A	C	5: 35,728,396 (GRCm39)	Y295D	probably damaging	Het
Trpm2	C	T	10: 77,771,776 (GRCm39)	R621H	probably damaging	Het
Tut4	T	C	4: 108,415,905 (GRCm39)		probably benign	Het
Ubn1	A	G	16: 4,880,463 (GRCm39)	E134G	probably damaging	Het

Other mutations in Arf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0115:Arf5	UTSW	6	28,426,075 (GRCm39)	missense	probably damaging	1.00
R0481:Arf5	UTSW	6	28,426,075 (GRCm39)	missense	probably damaging	1.00
R1498:Arf5	UTSW	6	28,426,153 (GRCm39)	missense	probably benign	0.13
R1550:Arf5	UTSW	6	28,426,152 (GRCm39)	missense	probably damaging	0.97
R2114:Arf5	UTSW	6	28,424,783 (GRCm39)	nonsense	probably null
R2115:Arf5	UTSW	6	28,424,783 (GRCm39)	nonsense	probably null
R2117:Arf5	UTSW	6	28,424,783 (GRCm39)	nonsense	probably null
R4502:Arf5	UTSW	6	28,425,775 (GRCm39)	missense	possibly damaging	0.90

Posted On

2015-04-16