Mutagenetix > Incidental Mutation

Incidental Mutation 'R1027:Arl16'

233278

Institutional Source

Beutler Lab

Gene Symbol

Arl16

Ensembl Gene

ENSMUSG00000057594

Gene Name

ADP-ribosylation factor-like 16

Synonyms

2600005N12Rik

MMRRC Submission

039129-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R1027 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

120355692-120358433 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120356522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 159 (A159V)

Ref Sequence

ENSEMBL: ENSMUSP00000076188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026900] [ENSMUST00000058370] [ENSMUST00000076921] [ENSMUST00000106203] [ENSMUST00000106205] [ENSMUST00000140862]

AlphaFold

B1ATY8

Predicted Effect

probably benign
Transcript: ENSMUST00000026900

SMART Domains

Protein: ENSMUSP00000026900
Gene: ENSMUSG00000116045

Domain	Start	End	E-Value	Type
VHS	8	139	6.97e-63	SMART
FYVE	155	221	1.81e-31	SMART
UIM	258	277	1.81e-1	SMART
Pfam:Hrs_helical	406	500	1.2e-41	PFAM
low complexity region	637	658	N/A	INTRINSIC
low complexity region	746	767	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000058370

SMART Domains

Protein: ENSMUSP00000062540
Gene: ENSMUSG00000049957

Domain	Start	End	E-Value	Type
low complexity region	18	39	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
coiled coil region	160	189	N/A	INTRINSIC
low complexity region	219	245	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000076921
AA Change: A159V

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000076188
Gene: ENSMUSG00000057594
AA Change: A159V

Domain	Start	End	E-Value	Type
Pfam:Arf	1	169	1.4e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106203

SMART Domains

Protein: ENSMUSP00000101809
Gene: ENSMUSG00000025793

Domain	Start	End	E-Value	Type
VHS	8	139	6.97e-63	SMART
FYVE	155	221	1.81e-31	SMART
UIM	258	277	1.81e-1	SMART
Pfam:Hrs_helical	405	500	2.2e-48	PFAM
low complexity region	724	739	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106205

SMART Domains

Protein: ENSMUSP00000101811
Gene: ENSMUSG00000025793

Domain	Start	End	E-Value	Type
VHS	8	139	6.97e-63	SMART
FYVE	155	221	1.81e-31	SMART
UIM	258	277	1.81e-1	SMART
Pfam:Hrs_helical	404	499	2.2e-48	PFAM
low complexity region	723	738	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122973

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137639

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143233

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128824

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154136

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148849

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145702

Predicted Effect

probably benign
Transcript: ENSMUST00000140862

SMART Domains

Protein: ENSMUSP00000119396
Gene: ENSMUSG00000025793

Domain	Start	End	E-Value	Type
VHS	8	123	1.29e-48	SMART
FYVE	139	205	1.81e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176120

Meta Mutation Damage Score

0.1671

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 89.0%

Validation Efficiency

94% (31/33)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). This protein has been shown to have an inhibitory role in the cellular antiviral response. This gene product interacts with the C-terminal domain of the DEXD/H-box helicase 58 (DDX58) gene product. This interaction was found to suppress the association between the DDX58 gene product and RNA, thereby negatively regulating the activity of the DDX58 gene product. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts10	G	T	17: 33,762,737 (GRCm39)	R572L	probably benign	Het
Adamts16	A	T	13: 70,915,921 (GRCm39)	V838E	probably damaging	Het
Arfgef3	T	C	10: 18,467,123 (GRCm39)	R2026G	probably benign	Het
Astn1	G	T	1: 158,407,849 (GRCm39)	R602L	probably damaging	Het
Dennd1b	T	C	1: 138,969,700 (GRCm39)	V72A	probably damaging	Het
Filip1l	A	G	16: 57,390,051 (GRCm39)	E213G	probably benign	Het
Gm10985	A	C	3: 53,752,674 (GRCm39)	Y19S	probably damaging	Het
Gm4076	T	C	13: 85,275,508 (GRCm39)		noncoding transcript	Het
Herc1	T	C	9: 66,363,250 (GRCm39)	V2691A	probably benign	Het
Hid1	A	C	11: 115,246,251 (GRCm39)	F340V	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Kif16b	T	C	2: 142,696,458 (GRCm39)		probably benign	Het
Map9	A	T	3: 82,284,401 (GRCm39)	D325V	probably damaging	Het
Mtor	A	G	4: 148,624,456 (GRCm39)	M2079V	probably benign	Het
Nop14	A	G	5: 34,801,348 (GRCm39)	S608P	probably damaging	Het
Or5p62	A	T	7: 107,771,348 (GRCm39)	V201D	probably damaging	Het
Pcm1	T	C	8: 41,746,482 (GRCm39)		probably benign	Het
Pigs	T	C	11: 78,227,651 (GRCm39)	S272P	probably damaging	Het
Plekhh1	T	C	12: 79,101,256 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,468,576 (GRCm39)	D129G	possibly damaging	Het
Rab33b	T	C	3: 51,391,876 (GRCm39)	S42P	probably damaging	Het
Rnf214	C	T	9: 45,811,187 (GRCm39)	V159I	probably benign	Het
Sel1l3	A	T	5: 53,302,820 (GRCm39)	M683K	possibly damaging	Het
Sntb2	A	G	8: 107,718,203 (GRCm39)	K304E	probably benign	Het
Svep1	C	A	4: 58,094,084 (GRCm39)	S1518I	possibly damaging	Het
Tg	T	C	15: 66,544,258 (GRCm39)	S76P	possibly damaging	Het
Ttn	A	G	2: 76,697,777 (GRCm39)		probably benign	Het
Zbtb12	CTTCAT	CTTCATTCAT	17: 35,115,284 (GRCm39)		probably null	Het

Other mutations in Arl16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1773:Arl16	UTSW	11	120,356,589 (GRCm39)	missense	possibly damaging	0.52
R1820:Arl16	UTSW	11	120,357,587 (GRCm39)	missense	probably damaging	0.99
R4632:Arl16	UTSW	11	120,356,610 (GRCm39)	missense	probably damaging	1.00
R5915:Arl16	UTSW	11	120,357,431 (GRCm39)	unclassified	probably benign
R8811:Arl16	UTSW	11	120,357,526 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTCTTGGTGGGAGACGTGAAGAC -3'
(R):5'- TTGTGGCGAGCACCACTTTGAC -3'

Sequencing Primer
(F):5'- TTGTTTACTGGTCACAGCACAG -3'
(R):5'- CATTGCTTGTGCCAAGCA -3'

Posted On

2014-09-24