Mutagenetix > Incidental Mutation

Incidental Mutation 'R8811:Arl16'

672422

Institutional Source

Beutler Lab

Gene Symbol

Arl16

Ensembl Gene

ENSMUSG00000057594

Gene Name

ADP-ribosylation factor-like 16

Synonyms

2600005N12Rik

MMRRC Submission

068646-MU

Accession Numbers

Essential gene?

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

Stock #

R8811 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120355692-120358433 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120357526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 63 (M63K)

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 damaging
Transcript: ENSMUST00000076921
AA Change: M63K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076188
Gene: ENSMUSG00000057594
AA Change: M63K

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

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

0.5331

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (54/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	G	17: 24,536,212 (GRCm39)	K485T	probably benign	Het
Abcc12	G	T	8: 87,280,023 (GRCm39)	L337M	probably damaging	Het
Adcy4	T	C	14: 56,010,221 (GRCm39)	D687G	probably benign	Het
Aldoc	T	A	11: 78,215,610 (GRCm39)	I98N	probably damaging	Het
Aoah	T	A	13: 21,184,121 (GRCm39)	V395D	probably damaging	Het
Arap1	C	T	7: 101,036,403 (GRCm39)	R397W	probably damaging	Het
Atf7	T	C	15: 102,502,144 (GRCm39)	D4G	probably damaging	Het
Atp6v0d2	A	T	4: 19,922,397 (GRCm39)	V34D	probably benign	Het
Calhm4	T	A	10: 33,917,661 (GRCm39)	K263N	probably benign	Het
Camk1g	C	G	1: 193,044,408 (GRCm39)	G2A	probably damaging	Het
Cenpe	A	G	3: 134,929,001 (GRCm39)	T302A	probably damaging	Het
Cps1	T	C	1: 67,253,246 (GRCm39)	V1246A	probably benign	Het
Csmd3	T	C	15: 47,560,139 (GRCm39)	D1397G		Het
Ddx39b	T	A	17: 35,463,435 (GRCm39)	S115T	probably benign	Het
Dnaja3	C	A	16: 4,514,383 (GRCm39)	T305K	probably benign	Het
Dusp7	C	G	9: 106,248,241 (GRCm39)	H290D	probably benign	Het
Emilin2	T	A	17: 71,582,282 (GRCm39)	D148V	possibly damaging	Het
Erbin	C	T	13: 104,022,824 (GRCm39)	R5Q	probably damaging	Het
Fam3b	T	C	16: 97,313,715 (GRCm39)		probably benign	Het
Foxn3	T	C	12: 99,162,951 (GRCm39)	S317G	probably benign	Het
Gipc1	T	A	8: 84,388,919 (GRCm39)	M177K	possibly damaging	Het
Grpel2	A	C	18: 61,851,823 (GRCm39)		probably benign	Het
Htr1a	G	C	13: 105,581,101 (GRCm39)	A114P	probably damaging	Het
Iqch	A	T	9: 63,452,195 (GRCm39)	M210K	possibly damaging	Het
Kdelr3	T	C	15: 79,410,052 (GRCm39)	I179T	possibly damaging	Het
Lat2	C	T	5: 134,635,553 (GRCm39)		probably benign	Het
Mcrip1	A	G	11: 120,435,605 (GRCm39)	V10A	probably damaging	Het
Mib1	C	T	18: 10,755,643 (GRCm39)	L350F	probably benign	Het
Nhlrc2	T	A	19: 56,583,344 (GRCm39)	V605E	probably benign	Het
Nup133	AAGAGA	AAGA	8: 124,638,627 (GRCm39)	900	probably null	Het
Nutm2	A	T	13: 50,623,989 (GRCm39)	I229F	probably benign	Het
Or6f1	G	A	7: 85,970,989 (GRCm39)	T57M	probably damaging	Het
Phkb	T	C	8: 86,745,156 (GRCm39)	V611A	possibly damaging	Het
Polg2	A	T	11: 106,670,208 (GRCm39)	Y21N	probably benign	Het
Prss28	T	A	17: 25,528,627 (GRCm39)	I23N	probably benign	Het
Ptprz1	G	A	6: 23,030,661 (GRCm39)	V1856I	probably benign	Het
Slc22a22	A	T	15: 57,108,237 (GRCm39)	I526N	probably damaging	Het
Slc24a4	T	C	12: 102,180,133 (GRCm39)	F68S	probably damaging	Het
Slc37a3	A	G	6: 39,322,274 (GRCm39)	S377P	probably damaging	Het
Smoc2	T	C	17: 14,545,896 (GRCm39)	S62P	probably damaging	Het
Sox4	A	G	13: 29,136,911 (GRCm39)	S32P	probably damaging	Het
Stxbp2	A	T	8: 3,689,541 (GRCm39)	Q426L		Het
Synrg	T	G	11: 83,910,410 (GRCm39)	S937A	probably benign	Het
Tbr1	C	A	2: 61,642,196 (GRCm39)	T487K	possibly damaging	Het
Tll2	T	C	19: 41,195,012 (GRCm39)	T25A	probably benign	Het
Trim31	T	C	17: 37,210,875 (GRCm39)	F169S	probably benign	Het
Tro	G	A	X: 149,438,555 (GRCm39)	S34L	unknown	Het
Tspear	T	C	10: 77,665,463 (GRCm39)	F83S	probably benign	Het
Ubr5	C	A	15: 38,041,123 (GRCm39)	A254S		Het
Ubtfl1	A	G	9: 18,321,459 (GRCm39)	E329G	probably benign	Het
Vmn2r45	A	G	7: 8,474,881 (GRCm39)	W716R	probably damaging	Het
Vmn2r67	T	C	7: 84,799,895 (GRCm39)	M448V	probably damaging	Het
Wwc2	T	G	8: 48,336,579 (GRCm39)	I228L	possibly damaging	Het
Zbtb20	T	C	16: 43,430,857 (GRCm39)	V383A	probably benign	Het

Other mutations in Arl16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1027:Arl16	UTSW	11	120,356,522 (GRCm39)	missense	probably benign	0.03
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

Predicted Primers

PCR Primer
(F):5'- TGTGCCTTCAACAAGCCTCC -3'
(R):5'- AGGGCTTGAGCAGTTGTCAC -3'

Sequencing Primer
(F):5'- GCCTCCTAGAATCTGAGCCCTG -3'
(R):5'- CACTGGCTGTGGATGCTTAGC -3'

Posted On

2021-04-30