Mutagenetix > Incidental Mutation

Incidental Mutation 'R1735:Arl9'

199629

Institutional Source

Beutler Lab

Gene Symbol

Arl9

Ensembl Gene

ENSMUSG00000063820

Gene Name

ADP-ribosylation factor-like 9

Synonyms

MMRRC Submission

039767-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1735 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77004055-77010606 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77006626 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 67 (F67S)

Ref Sequence

ENSEMBL: ENSMUSP00000071188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071199] [ENSMUST00000134197]

AlphaFold

Q6IMB2

Predicted Effect

probably damaging
Transcript: ENSMUST00000071199
AA Change: F67S

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

SMART Domains

Protein: ENSMUSP00000071188
Gene: ENSMUSG00000063820
AA Change: F67S

Domain	Start	End	E-Value	Type
Pfam:Arf	5	132	1.1e-30	PFAM
Pfam:SRPRB	16	132	3.5e-10	PFAM
Pfam:Roc	20	128	2.4e-11	PFAM
Pfam:Ras	20	130	7.4e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129353

Predicted Effect

probably damaging
Transcript: ENSMUST00000134197
AA Change: F52S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122846
Gene: ENSMUSG00000063820
AA Change: F52S

Domain	Start	End	E-Value	Type
Pfam:SRPRB	1	166	3.1e-13	PFAM
Pfam:Arf	2	162	1e-38	PFAM
Pfam:Roc	5	115	1.1e-12	PFAM
Pfam:Gtr1_RagA	5	141	8.5e-8	PFAM
Pfam:Ras	5	160	4.4e-12	PFAM

Coding Region Coverage

1x: 97.6%
3x: 97.0%
10x: 95.3%
20x: 92.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ARL9 is a member of the small GTPase protein family with a high degree of similarity to ARF (MIM 103180) proteins of the RAS superfamily.[supplied by OMIM, Nov 2008]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230110C19Rik	A	C	9: 8,027,265 (GRCm38)	S91A	probably benign	Het
Acot5	A	T	12: 84,075,487 (GRCm38)	I282F	probably benign	Het
Adam19	C	A	11: 46,138,917 (GRCm38)	Q730K	probably benign	Het
Adgrv1	A	G	13: 81,487,947 (GRCm38)	V3481A	possibly damaging	Het
Akr1c20	T	C	13: 4,487,208 (GRCm38)	D316G	probably benign	Het
Ap3b1	G	A	13: 94,493,717 (GRCm38)	V827I	unknown	Het
Aph1a	T	A	3: 95,895,509 (GRCm38)	D140E	probably damaging	Het
Arhgef19	G	T	4: 141,249,618 (GRCm38)	V502L	possibly damaging	Het
B430305J03Rik	G	A	3: 61,363,940 (GRCm38)		probably benign	Het
B4galnt2	A	G	11: 95,890,983 (GRCm38)	F119L	probably damaging	Het
Bcap29	T	A	12: 31,630,840 (GRCm38)	N49I	probably damaging	Het
C77080	G	T	4: 129,223,577 (GRCm38)	S476R	probably damaging	Het
Capn11	T	A	17: 45,632,401 (GRCm38)	K616*	probably null	Het
Cdh12	T	A	15: 21,520,366 (GRCm38)	Y306N	probably damaging	Het
Cep350	T	A	1: 155,953,214 (GRCm38)	N315Y	probably damaging	Het
Cited2	C	A	10: 17,724,046 (GRCm38)	P34Q	probably damaging	Het
Cmya5	A	T	13: 93,089,789 (GRCm38)	D2930E	probably benign	Het
Cog3	T	A	14: 75,729,321 (GRCm38)	K470*	probably null	Het
Commd10	A	G	18: 46,990,485 (GRCm38)	T136A	probably benign	Het
Csf2ra	C	A	19: 61,226,344 (GRCm38)	D181Y	probably damaging	Het
Csmd1	T	A	8: 15,932,610 (GRCm38)	I2686F	probably damaging	Het
Dhx29	T	C	13: 112,945,086 (GRCm38)	S415P	probably benign	Het
Dsel	A	T	1: 111,860,915 (GRCm38)	F630Y	probably damaging	Het
Ell	T	A	8: 70,578,940 (GRCm38)	I96N	possibly damaging	Het
Ephx2	T	A	14: 66,088,303 (GRCm38)	I358L	probably benign	Het
Fam162b	A	G	10: 51,587,211 (GRCm38)	I120T	probably damaging	Het
Fam187a	T	C	11: 102,885,780 (GRCm38)	Y137H	probably damaging	Het
Fastk	T	C	5: 24,441,803 (GRCm38)	E403G	probably damaging	Het
Fcrlb	C	A	1: 170,907,332 (GRCm38)	V409F	probably benign	Het
Flot2	G	T	11: 78,058,005 (GRCm38)	A269S	probably benign	Het
Gpd2	T	A	2: 57,355,551 (GRCm38)	N419K	probably damaging	Het
Hecw1	A	T	13: 14,377,765 (GRCm38)	M61K	probably null	Het
Htr2a	T	C	14: 74,706,128 (GRCm38)	F383L	probably damaging	Het
Kctd6	C	T	14: 8,222,253 (GRCm38)	R32C	probably damaging	Het
Khdc1a	A	G	1: 21,350,965 (GRCm38)	T125A	probably benign	Het
Klhl40	T	C	9: 121,779,938 (GRCm38)	S390P	probably benign	Het
Lonp1	G	A	17: 56,614,956 (GRCm38)	T808I	probably damaging	Het
Loxhd1	A	C	18: 77,404,889 (GRCm38)	D1342A	probably damaging	Het
Lrat	T	C	3: 82,897,110 (GRCm38)	I187V	probably benign	Het
Lrif1	T	C	3: 106,735,846 (GRCm38)	*238Q	probably null	Het
Lrp2bp	T	C	8: 46,011,988 (GRCm38)	F48S	probably benign	Het
Mafg	A	G	11: 120,629,678 (GRCm38)	M32T	possibly damaging	Het
Map4	C	T	9: 110,034,955 (GRCm38)	T416I	probably benign	Het
N4bp2	T	C	5: 65,808,316 (GRCm38)	F1236S	probably damaging	Het
Nfatc3	A	G	8: 106,083,834 (GRCm38)	D414G	probably damaging	Het
Nrip2	T	G	6: 128,405,074 (GRCm38)	V50G	probably damaging	Het
Olfr1449	T	A	19: 12,934,843 (GRCm38)	I35N	probably damaging	Het
Olfr16	A	G	1: 172,956,807 (GRCm38)	N4S	probably benign	Het
Olfr432	A	T	1: 174,050,799 (GRCm38)	K142I	probably benign	Het
Olfr608	T	A	7: 103,470,146 (GRCm38)	F36I	possibly damaging	Het
Pcdhb18	A	T	18: 37,490,769 (GRCm38)	H384L	probably benign	Het
Pik3r1	A	T	13: 101,686,374 (GRCm38)	Y607N	probably damaging	Het
Plagl2	G	A	2: 153,232,477 (GRCm38)	T168I	probably damaging	Het
Polr2a	A	G	11: 69,742,396 (GRCm38)	S912P	probably damaging	Het
Ppp1r16b	A	G	2: 158,761,495 (GRCm38)	K447E	possibly damaging	Het
Prkd1	T	C	12: 50,342,039 (GRCm38)	E907G	possibly damaging	Het
Rabep2	A	G	7: 126,444,540 (GRCm38)	R470G	probably damaging	Het
Rasal2	T	C	1: 157,174,160 (GRCm38)	Y518C	probably damaging	Het
Rbmxl1	A	G	8: 78,506,082 (GRCm38)	Y211H	probably damaging	Het
Rdh7	T	C	10: 127,884,585 (GRCm38)	Y306C	probably benign	Het
Rtn3	T	C	19: 7,457,911 (GRCm38)	I220V	probably damaging	Het
Scn8a	A	G	15: 101,015,861 (GRCm38)	N1045D	possibly damaging	Het
Scube1	T	C	15: 83,607,437 (GRCm38)	H952R	probably damaging	Het
Sf3b1	A	G	1: 55,000,652 (GRCm38)	I690T	probably damaging	Het
Sharpin	T	C	15: 76,347,936 (GRCm38)	K240R	probably benign	Het
Skint5	A	G	4: 113,563,459 (GRCm38)	I1108T	unknown	Het
Snip1	A	G	4: 125,071,201 (GRCm38)	D133G	probably benign	Het
St3gal3	T	C	4: 118,014,774 (GRCm38)	Y77C	probably damaging	Het
Sytl3	T	C	17: 6,715,481 (GRCm38)	V112A	probably benign	Het
Tnxb	C	T	17: 34,717,970 (GRCm38)	P3718S	probably damaging	Het
Ttc24	A	T	3: 88,073,094 (GRCm38)		probably null	Het
Ubr3	A	T	2: 70,009,129 (GRCm38)	E1529V	probably damaging	Het
Utrn	T	A	10: 12,710,138 (GRCm38)	H965L	probably benign	Het
Xrn2	T	A	2: 147,061,423 (GRCm38)	L781Q	probably damaging	Het
Zbtb11	T	C	16: 55,990,682 (GRCm38)	I401T	probably benign	Het
Zc3h14	C	T	12: 98,758,580 (GRCm38)	P167L	probably damaging	Het
Zfp609	G	T	9: 65,703,092 (GRCm38)	S863*	probably null	Het

Other mutations in Arl9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00538:Arl9	APN	5	77,004,056 (GRCm38)	start codon destroyed	probably null	0.02
IGL01327:Arl9	APN	5	77,006,554 (GRCm38)	missense	possibly damaging	0.63
IGL01557:Arl9	APN	5	77,004,101 (GRCm38)	critical splice donor site	probably null
IGL03068:Arl9	APN	5	77,007,378 (GRCm38)	missense	possibly damaging	0.60
R0038:Arl9	UTSW	5	77,006,475 (GRCm38)	missense	probably benign	0.00
R0195:Arl9	UTSW	5	77,006,494 (GRCm38)	missense	probably damaging	1.00
R0322:Arl9	UTSW	5	77,007,190 (GRCm38)	intron	probably benign
R0540:Arl9	UTSW	5	77,007,271 (GRCm38)	missense	possibly damaging	0.91
R1614:Arl9	UTSW	5	77,010,565 (GRCm38)	missense	probably benign
R3547:Arl9	UTSW	5	77,010,479 (GRCm38)	missense	probably benign	0.01
R4296:Arl9	UTSW	5	77,006,549 (GRCm38)	missense	probably damaging	1.00
R5520:Arl9	UTSW	5	77,006,593 (GRCm38)	missense	probably damaging	1.00
R5731:Arl9	UTSW	5	77,006,527 (GRCm38)	missense	possibly damaging	0.95
R6018:Arl9	UTSW	5	77,007,406 (GRCm38)	missense	probably damaging	1.00
R6547:Arl9	UTSW	5	77,010,410 (GRCm38)	critical splice acceptor site	probably null
R7203:Arl9	UTSW	5	77,007,271 (GRCm38)	missense	possibly damaging	0.91
R7468:Arl9	UTSW	5	77,010,429 (GRCm38)	nonsense	probably null
R7943:Arl9	UTSW	5	77,010,548 (GRCm38)	missense	probably damaging	1.00
R8467:Arl9	UTSW	5	77,006,599 (GRCm38)	missense	probably damaging	1.00
R9649:Arl9	UTSW	5	77,007,292 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCAGGAGCCAGCTAAAACACAGTC -3'
(R):5'- TGTTGCCAGCACTACAAAGGGAG -3'

Sequencing Primer
(F):5'- GCATGGGTTTACTGGTTTACC -3'
(R):5'- CAGCACTACAAAGGGAGAAAAC -3'

Posted On

2014-05-23