Mutagenetix > Incidental Mutation

Incidental Mutation 'R1820:Arl16'

204802

Institutional Source

Beutler Lab

Gene Symbol

Arl16

Ensembl Gene

ENSMUSG00000057594

Gene Name

ADP-ribosylation factor-like 16

Synonyms

2600005N12Rik

MMRRC Submission

039848-MU

Accession Numbers

Essential gene?

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

Stock #

R1820 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120355692-120358433 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120357587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 43 (T43A)

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: T43A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000076188
Gene: ENSMUSG00000057594
AA Change: T43A

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: ENSMUST00000137639

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148849

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128824

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154136

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145702

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143233

Predicted Effect

probably benign
Transcript: ENSMUST00000176120

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.5%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,197,018 (GRCm39)	V197A	possibly damaging	Het
9230109A22Rik	T	C	15: 25,139,176 (GRCm39)		noncoding transcript	Het
Acbd3	A	G	1: 180,572,703 (GRCm39)	N321S	probably benign	Het
Actr3b	T	C	5: 26,054,156 (GRCm39)		probably null	Het
Aldh5a1	T	C	13: 25,111,555 (GRCm39)	D124G	probably benign	Het
Arhgap35	G	A	7: 16,295,874 (GRCm39)	R1064W	possibly damaging	Het
Arhgef9	T	A	X: 94,125,142 (GRCm39)	I225F	probably damaging	Het
Camsap3	T	C	8: 3,653,485 (GRCm39)	W409R	probably damaging	Het
Cfap43	T	A	19: 47,885,655 (GRCm39)	H320L	probably damaging	Het
Chac2	T	A	11: 30,927,496 (GRCm39)	N141I	probably damaging	Het
Chtf18	C	A	17: 25,944,913 (GRCm39)	G211C	probably damaging	Het
Cplane1	A	G	15: 8,299,129 (GRCm39)	K3106E	unknown	Het
Cwf19l1	T	A	19: 44,115,826 (GRCm39)	Y201F	probably benign	Het
Dcun1d1	A	T	3: 35,973,153 (GRCm39)	L114*	probably null	Het
Fdps	A	T	3: 89,002,350 (GRCm39)	H249Q	probably benign	Het
Fhip1a	T	A	3: 85,573,136 (GRCm39)	T938S	probably damaging	Het
Gabrg1	T	A	5: 70,931,756 (GRCm39)	Y329F	probably damaging	Het
Kctd8	T	A	5: 69,497,684 (GRCm39)	I321F	probably damaging	Het
Kdm5b	G	T	1: 134,525,408 (GRCm39)	R299L	possibly damaging	Het
Kif23	T	C	9: 61,833,720 (GRCm39)	T494A	possibly damaging	Het
Kmt2e	A	G	5: 23,678,545 (GRCm39)	H208R	probably damaging	Het
Lipo5	A	T	19: 33,441,995 (GRCm39)		probably null	Het
Lrrc28	G	T	7: 67,290,859 (GRCm39)	T54K	probably damaging	Het
Luc7l2	G	A	6: 38,575,754 (GRCm39)		probably null	Het
Man2a2	A	G	7: 80,008,681 (GRCm39)	F899L	probably benign	Het
Myo9b	T	C	8: 71,786,002 (GRCm39)	I633T	probably damaging	Het
Nynrin	A	T	14: 56,107,835 (GRCm39)	I981F	possibly damaging	Het
Or5an1c	A	T	19: 12,218,612 (GRCm39)	S138T	probably damaging	Het
Or8g28	A	G	9: 39,169,695 (GRCm39)	I91T	possibly damaging	Het
Pank1	A	G	19: 34,855,084 (GRCm39)		probably null	Het
Phc2	C	T	4: 128,637,336 (GRCm39)	A47V	probably damaging	Het
Plekhs1	A	G	19: 56,466,954 (GRCm39)	R262G	possibly damaging	Het
Pnp2	C	A	14: 51,201,914 (GRCm39)	P300Q	possibly damaging	Het
Polq	T	A	16: 36,849,780 (GRCm39)	S345T	possibly damaging	Het
Prag1	A	G	8: 36,570,958 (GRCm39)	T514A	probably benign	Het
Psmd5	T	C	2: 34,760,758 (GRCm39)		probably null	Het
Rfx6	T	G	10: 51,599,221 (GRCm39)		probably null	Het
Rhbdd2	G	A	5: 135,664,903 (GRCm39)	C78Y	probably damaging	Het
Rnf157	G	T	11: 116,245,477 (GRCm39)	P313T	probably damaging	Het
Ryr2	A	G	13: 11,602,202 (GRCm39)	L4560P	probably damaging	Het
Scai	A	T	2: 38,996,990 (GRCm39)	M268K	possibly damaging	Het
Scd3	A	T	19: 44,230,245 (GRCm39)	T343S	probably benign	Het
Scimp	A	T	11: 70,682,423 (GRCm39)	S98T	probably benign	Het
Sfrp2	A	G	3: 83,680,461 (GRCm39)	N207S	probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sis	T	C	3: 72,828,475 (GRCm39)	Y1200C	probably damaging	Het
Sp1	T	A	15: 102,317,511 (GRCm39)	S343R	possibly damaging	Het
Spata31d1a	A	T	13: 59,849,069 (GRCm39)	C1020S	possibly damaging	Het
Spink5	A	G	18: 44,122,486 (GRCm39)	N317S	possibly damaging	Het
Sptbn2	A	G	19: 4,776,624 (GRCm39)	D224G	probably damaging	Het
St8sia3	T	C	18: 64,402,703 (GRCm39)	I114T	probably damaging	Het
Zscan5b	C	A	7: 6,242,162 (GRCm39)	H460Q	probably damaging	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
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'- AGCCTCCTAGAATCTGAGCC -3'
(R):5'- CTCTATGGTTGACGTTGGCC -3'

Sequencing Primer
(F):5'- TGCTCAGGAAATCAGACCAATG -3'
(R):5'- TGACGTTGGCCTGGAGC -3'

Posted On

2014-06-23