Mutagenetix > Incidental Mutation

Incidental Mutation 'R3547:Arl9'

268243

Institutional Source

Beutler Lab

Gene Symbol

Arl9

Ensembl Gene

ENSMUSG00000063820

Gene Name

ADP-ribosylation factor-like 9

Synonyms

MMRRC Submission

040666-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3547 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77151902-77158453 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77158326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 136 (D136G)

Ref Sequence

ENSEMBL: ENSMUSP00000122846 (fasta)

Gene Model

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

AlphaFold

Q6IMB2

Predicted Effect

probably benign
Transcript: ENSMUST00000071199

SMART Domains

Protein: ENSMUSP00000071188
Gene: ENSMUSG00000063820

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 benign
Transcript: ENSMUST00000134197
AA Change: D136G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000122846
Gene: ENSMUSG00000063820
AA Change: D136G

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

Meta Mutation Damage Score

0.0947

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

98% (62/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg5	A	G	3: 54,656,736 (GRCm39)	R316G	probably benign	Het
Anapc1	T	C	2: 128,484,602 (GRCm39)	N1121D	possibly damaging	Het
Antxr2	A	T	5: 98,125,516 (GRCm39)	I247N	probably benign	Het
Arid5b	C	T	10: 67,934,292 (GRCm39)	G294S	probably benign	Het
Atxn1l	A	G	8: 110,458,981 (GRCm39)	L427P	possibly damaging	Het
Celf3	T	G	3: 94,395,845 (GRCm39)	C304G	probably damaging	Het
Clcc1	T	A	3: 108,575,429 (GRCm39)	C169S	probably benign	Het
Clec4a3	A	G	6: 122,941,239 (GRCm39)	E78G	probably damaging	Het
Clip1	A	G	5: 123,769,141 (GRCm39)	L532P	probably damaging	Het
Col12a1	T	G	9: 79,540,698 (GRCm39)	K2429T	probably damaging	Het
Col20a1	G	T	2: 180,636,704 (GRCm39)	E228D	probably damaging	Het
Cx3cl1	A	C	8: 95,504,752 (GRCm39)	E56A	possibly damaging	Het
Eprs1	G	A	1: 185,111,939 (GRCm39)		probably null	Het
Fap	A	C	2: 62,349,355 (GRCm39)	L478R	probably damaging	Het
Fhit	T	C	14: 9,870,095 (GRCm38)	T125A	probably benign	Het
Gdi1	T	A	X: 73,351,414 (GRCm39)	F175L	possibly damaging	Het
Golga7b	T	C	19: 42,255,510 (GRCm39)	M129T	possibly damaging	Het
Gpr149	A	T	3: 62,502,549 (GRCm39)	C436S	probably benign	Het
Grid2	T	C	6: 64,297,005 (GRCm39)	V456A	probably damaging	Het
Gstcd	G	T	3: 132,790,599 (GRCm39)	T56K	possibly damaging	Het
Hydin	G	A	8: 111,308,699 (GRCm39)	G3995D	possibly damaging	Het
Igkv4-50	G	A	6: 69,677,765 (GRCm39)	T113I	probably benign	Het
Igkv5-43	A	G	6: 69,753,240 (GRCm39)		probably benign	Het
Igsf10	G	A	3: 59,237,962 (GRCm39)	H740Y	probably benign	Het
Igsf10	C	A	3: 59,243,935 (GRCm39)	R133L	probably damaging	Het
Lcmt1	A	G	7: 122,999,702 (GRCm39)	E94G	probably benign	Het
Lrp1b	A	T	2: 40,490,300 (GRCm39)	L287H	probably damaging	Het
Ly6m	C	A	15: 74,753,463 (GRCm39)	A18S	probably null	Het
Map3k3	C	T	11: 106,033,379 (GRCm39)	Q211*	probably null	Het
Map4	T	A	9: 109,881,266 (GRCm39)	F43L	possibly damaging	Het
Mcf2	T	C	X: 59,180,806 (GRCm39)	K74R	probably damaging	Het
Mylk	G	A	16: 34,700,538 (GRCm39)	V460I	possibly damaging	Het
Nat1	A	G	8: 67,943,684 (GRCm39)	D23G	possibly damaging	Het
Nbeal1	T	C	1: 60,317,939 (GRCm39)	F1959L	probably damaging	Het
Ncf1	T	A	5: 134,255,463 (GRCm39)	K143*	probably null	Het
Nlrp6	T	G	7: 140,506,682 (GRCm39)	V849G	probably benign	Het
Or52b3	A	G	7: 102,203,677 (GRCm39)	Y62C	probably damaging	Het
Pi4k2a	C	T	19: 42,078,987 (GRCm39)	P16L	probably benign	Het
Pitx3	T	A	19: 46,124,548 (GRCm39)	Q273L	possibly damaging	Het
Ppp1r27	T	A	11: 120,441,511 (GRCm39)	I90F	probably damaging	Het
Prickle2	T	C	6: 92,388,118 (GRCm39)	Y428C	probably damaging	Het
Prkcq	A	G	2: 11,288,627 (GRCm39)	K527E	probably benign	Het
Prune2	T	A	19: 17,101,712 (GRCm39)	S2405R	probably damaging	Het
Reln	A	G	5: 22,432,598 (GRCm39)	V134A	possibly damaging	Het
Rnf167	T	C	11: 70,540,507 (GRCm39)	I129T	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sfxn2	T	C	19: 46,578,635 (GRCm39)	S217P	probably damaging	Het
Slc16a7	T	A	10: 125,130,569 (GRCm39)	K39*	probably null	Het
Slc22a17	A	G	14: 55,144,694 (GRCm39)	L573P	probably damaging	Het
Slc25a45	T	C	19: 5,934,574 (GRCm39)	Y181H	probably damaging	Het
Slc6a20a	A	G	9: 123,489,567 (GRCm39)	S159P	probably damaging	Het
Tbc1d1	G	A	5: 64,443,350 (GRCm39)	R523Q	probably damaging	Het
Thnsl1	T	G	2: 21,217,438 (GRCm39)	D397E	probably benign	Het
Ttn	T	A	2: 76,575,450 (GRCm39)	I25148F	probably damaging	Het
Ube4b	T	C	4: 149,419,573 (GRCm39)	D1045G	probably damaging	Het
Ugt8a	A	T	3: 125,661,031 (GRCm39)	L487*	probably null	Het
Uprt	T	A	X: 103,526,934 (GRCm39)	L123H	probably damaging	Het
Usp9x	T	C	X: 12,994,629 (GRCm39)	L940P	probably benign	Het
Utp20	T	C	10: 88,618,551 (GRCm39)	K1150E	probably damaging	Het
Uty	A	C	Y: 1,158,512 (GRCm39)	D463E	possibly damaging	Het
Vmn1r7	A	G	6: 57,001,834 (GRCm39)	I142T	possibly damaging	Het
Vps13d	T	G	4: 144,801,545 (GRCm39)	T3558P	probably damaging	Het
Zfp319	A	G	8: 96,055,445 (GRCm39)	S253P	probably damaging	Het
Zfp831	A	G	2: 174,499,476 (GRCm39)	S1265G	probably benign	Het

Other mutations in Arl9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00538:Arl9	APN	5	77,151,903 (GRCm39)	start codon destroyed	probably null	0.02
IGL01327:Arl9	APN	5	77,154,401 (GRCm39)	missense	possibly damaging	0.63
IGL01557:Arl9	APN	5	77,151,948 (GRCm39)	critical splice donor site	probably null
IGL03068:Arl9	APN	5	77,155,225 (GRCm39)	missense	possibly damaging	0.60
R0038:Arl9	UTSW	5	77,154,322 (GRCm39)	missense	probably benign	0.00
R0195:Arl9	UTSW	5	77,154,341 (GRCm39)	missense	probably damaging	1.00
R0322:Arl9	UTSW	5	77,155,037 (GRCm39)	intron	probably benign
R0540:Arl9	UTSW	5	77,155,118 (GRCm39)	missense	possibly damaging	0.91
R1614:Arl9	UTSW	5	77,158,412 (GRCm39)	missense	probably benign
R1735:Arl9	UTSW	5	77,154,473 (GRCm39)	missense	probably damaging	1.00
R4296:Arl9	UTSW	5	77,154,396 (GRCm39)	missense	probably damaging	1.00
R5520:Arl9	UTSW	5	77,154,440 (GRCm39)	missense	probably damaging	1.00
R5731:Arl9	UTSW	5	77,154,374 (GRCm39)	missense	possibly damaging	0.95
R6018:Arl9	UTSW	5	77,155,253 (GRCm39)	missense	probably damaging	1.00
R6547:Arl9	UTSW	5	77,158,257 (GRCm39)	critical splice acceptor site	probably null
R7203:Arl9	UTSW	5	77,155,118 (GRCm39)	missense	possibly damaging	0.91
R7468:Arl9	UTSW	5	77,158,276 (GRCm39)	nonsense	probably null
R7943:Arl9	UTSW	5	77,158,395 (GRCm39)	missense	probably damaging	1.00
R8467:Arl9	UTSW	5	77,154,446 (GRCm39)	missense	probably damaging	1.00
R9649:Arl9	UTSW	5	77,155,139 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGGGTTATAATAAAATCCCAGTG -3'
(R):5'- AAGTGGAAAGTTTTGGCTGAGC -3'

Sequencing Primer
(F):5'- AAATCCCAGTGTTGTTTGTTTTAAG -3'
(R):5'- GCTGAGCCTGCCTTTCAG -3'

Posted On

2015-02-19