Mutagenetix > Incidental Mutation

Incidental Mutation 'R8753:Arf4'

692930

Institutional Source

Beutler Lab

Gene Symbol

Arf4

Ensembl Gene

ENSMUSG00000021877

Gene Name

ADP-ribosylation factor 4

Synonyms

MMRRC Submission

068619-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8753 (G1)

Quality Score

73.0074

Status

Validated

Chromosome

Chromosomal Location

26359289-26377997 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 26374114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022429] [ENSMUST00000112318] [ENSMUST00000166075]

AlphaFold

P61750

Predicted Effect

probably benign
Transcript: ENSMUST00000022429

SMART Domains

Protein: ENSMUSP00000022429
Gene: ENSMUSG00000021877

Domain	Start	End	E-Value	Type
ARF	1	180	2.21e-121	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112318

SMART Domains

Protein: ENSMUSP00000107937
Gene: ENSMUSG00000021877

Domain	Start	End	E-Value	Type
ARF	1	153	4.77e-85	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166075

SMART Domains

Protein: ENSMUSP00000132159
Gene: ENSMUSG00000021877

Domain	Start	End	E-Value	Type
Pfam:Arf	5	55	2.5e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167376

SMART Domains

Protein: ENSMUSP00000127272
Gene: ENSMUSG00000021877

Domain	Start	End	E-Value	Type
Pfam:Arf	1	60	4.2e-16	PFAM

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (59/62)

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 ARF gene family whose members 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 5 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily. The ARF proteins are categorized as class I, class II and class III; this gene is a class II member. The members of each class share a common gene organization. The ARF4 gene spans approximately 12kb and contains six exons and five introns. This gene is the most divergent member of the human ARFs. Conflicting map positions at 3p14 or 3p21 have been reported for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic lethality. Mice heterozygous for the gene trap allele exhibit failure to increase exploration of an object in a novel context, reduced spine density and reduced mESPC amplitudes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,332,706 (GRCm39)	Y1496H	probably damaging	Het
Acan	G	A	7: 78,748,516 (GRCm39)	E1096K	possibly damaging	Het
Adprhl1	T	C	8: 13,272,118 (GRCm39)	K1547E	possibly damaging	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Boc	A	T	16: 44,320,775 (GRCm39)	M295K		Het
C2cd3	T	A	7: 100,049,024 (GRCm39)		probably null	Het
Calcrl	C	G	2: 84,178,659 (GRCm39)	G223A	probably benign	Het
Calcrl	C	A	2: 84,178,661 (GRCm39)	M222I	probably benign	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Ccz1	A	G	5: 143,925,050 (GRCm39)	C469R	probably benign	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Clpx	G	A	9: 65,223,958 (GRCm39)	G251S	probably damaging	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Cpox	T	A	16: 58,498,391 (GRCm39)	M408K	probably damaging	Het
Crybb3	A	G	5: 113,226,247 (GRCm39)		probably null	Het
Cubn	A	T	2: 13,313,377 (GRCm39)	C3064*	probably null	Het
Cxcl3	CCTGCTGCTGCTGCTG	CCTGCTGCTGCTG	5: 90,934,071 (GRCm39)		probably benign	Het
Cyp4a31	A	T	4: 115,432,158 (GRCm39)	S432C	probably benign	Het
Ddias	A	T	7: 92,508,668 (GRCm39)	F416I	probably damaging	Het
Dlat	G	T	9: 50,560,967 (GRCm39)	A360E	probably damaging	Het
Dnttip2	A	G	3: 122,074,398 (GRCm39)	T612A	probably damaging	Het
Fnip1	A	G	11: 54,400,867 (GRCm39)	T1089A	probably damaging	Het
Gm12117	A	T	11: 33,225,953 (GRCm39)	L128M	probably benign	Het
Gtf2h5	C	CA	17: 6,134,833 (GRCm39)		probably null	Het
Ibtk	T	C	9: 85,610,819 (GRCm39)	T285A	probably benign	Het
Ifi206	A	T	1: 173,301,223 (GRCm39)	N818K	unknown	Het
Itga10	T	G	3: 96,558,471 (GRCm39)	L305R	probably damaging	Het
Khnyn	T	C	14: 56,125,223 (GRCm39)	Y461H	possibly damaging	Het
Macroh2a2	T	C	10: 61,585,113 (GRCm39)	D177G	possibly damaging	Het
Mbtps1	T	C	8: 120,235,601 (GRCm39)	S1026G	possibly damaging	Het
Msantd4	A	G	9: 4,385,013 (GRCm39)	E246G	probably damaging	Het
N4bp1	T	C	8: 87,575,085 (GRCm39)	I737V	probably damaging	Het
Nav2	T	G	7: 49,102,320 (GRCm39)	S373A	probably benign	Het
Nbea	T	C	3: 55,534,329 (GRCm39)	Y2936C	probably damaging	Het
Nbeal1	A	T	1: 60,307,542 (GRCm39)	I1685F	probably damaging	Het
Nt5c3	C	G	6: 56,860,677 (GRCm39)	G293R	probably damaging	Het
Or4f14c	A	T	2: 111,940,802 (GRCm39)	V265E	probably benign	Het
Or52z1	T	A	7: 103,436,567 (GRCm39)	I306F	probably benign	Het
Pcnx2	A	T	8: 126,613,999 (GRCm39)	V484E	probably benign	Het
Pcsk5	C	T	19: 17,446,408 (GRCm39)	R1195Q	probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pitpnm3	A	G	11: 71,942,704 (GRCm39)	V861A	probably benign	Het
Pkd1	A	G	17: 24,793,176 (GRCm39)	Y1621C	probably damaging	Het
Polr3a	C	A	14: 24,513,702 (GRCm39)	E846*	probably null	Het
Polr3e	T	C	7: 120,539,540 (GRCm39)	V455A	possibly damaging	Het
Prr5l	C	T	2: 101,571,723 (GRCm39)	G118D	probably damaging	Het
Pygl	G	T	12: 70,242,400 (GRCm39)	N685K	probably damaging	Het
Rfx8	A	G	1: 39,757,600 (GRCm39)	V56A	probably damaging	Het
Sbf1	T	C	15: 89,179,662 (GRCm39)	D1341G	probably benign	Het
Selenon	T	C	4: 134,275,330 (GRCm39)	T123A	probably benign	Het
Slc23a1	T	G	18: 35,752,631 (GRCm39)	K549Q	probably benign	Het
Slc7a13	T	C	4: 19,841,443 (GRCm39)	F430S	probably damaging	Het
Smarcc2	G	A	10: 128,319,070 (GRCm39)	V707M	probably damaging	Het
St18	A	G	1: 6,916,015 (GRCm39)	S887G	probably damaging	Het
T2	T	C	17: 8,615,477 (GRCm39)		probably benign	Het
Tbc1d16	A	G	11: 119,101,492 (GRCm39)	L6P	probably damaging	Het
Tcf7l2	T	C	19: 55,920,195 (GRCm39)	L576P	possibly damaging	Het
Tnr	A	G	1: 159,677,936 (GRCm39)	D107G	probably benign	Het
Trpv1	G	T	11: 73,135,082 (GRCm39)	K426N	probably damaging	Het
Vmn1r15	A	T	6: 57,235,895 (GRCm39)	L254F	probably benign	Het
Vmn1r219	A	T	13: 23,347,191 (GRCm39)	I127F	probably damaging	Het
Zc3h14	A	T	12: 98,724,831 (GRCm39)	E164D	probably benign	Het

Other mutations in Arf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01387:Arf4	APN	14	26,374,300 (GRCm39)	missense	possibly damaging	0.88
IGL01401:Arf4	APN	14	26,359,609 (GRCm39)	missense	probably damaging	0.98
R1879:Arf4	UTSW	14	26,368,076 (GRCm39)	missense	probably damaging	1.00
R4670:Arf4	UTSW	14	26,374,248 (GRCm39)	unclassified	probably benign
R5905:Arf4	UTSW	14	26,375,079 (GRCm39)	missense	probably benign	0.03
R8256:Arf4	UTSW	14	26,377,126 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGACAGGGTTTCTCTGTATAGCCC -3'
(R):5'- GGAAGTCTATACTCACCATTTTCTGC -3'

Sequencing Primer
(F):5'- CTGGCTGTCCTGGAGCTCAC -3'
(R):5'- ACCATTTTCTGCAGCACAGC -3'

Posted On

2022-01-07