Incidental Mutation 'R0195:Arl9'
ID 23359
Institutional Source Beutler Lab
Gene Symbol Arl9
Ensembl Gene ENSMUSG00000063820
Gene Name ADP-ribosylation factor-like 9
Synonyms
MMRRC Submission 038454-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0195 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 77151902-77158453 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77154341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 8 (V8A)
Ref Sequence ENSEMBL: ENSMUSP00000122846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071199] [ENSMUST00000134197]
AlphaFold Q6IMB2
Predicted Effect probably damaging
Transcript: ENSMUST00000071199
AA Change: V23A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000071188
Gene: ENSMUSG00000063820
AA Change: V23A

DomainStartEndE-ValueType
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: V8A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000122846
Gene: ENSMUSG00000063820
AA Change: V8A

DomainStartEndE-ValueType
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 0.1430 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.4%
Validation Efficiency 98% (156/160)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly C G 11: 100,403,800 (GRCm39) R362P possibly damaging Het
Adam24 T A 8: 41,134,805 (GRCm39) W758R probably benign Het
Adam26b G T 8: 43,973,307 (GRCm39) T565K probably damaging Het
Adam7 T G 14: 68,765,076 (GRCm39) probably benign Het
Adamts19 A G 18: 59,102,942 (GRCm39) probably benign Het
Add1 A G 5: 34,767,990 (GRCm39) probably benign Het
Ago1 A G 4: 126,357,484 (GRCm39) C64R probably benign Het
Ankrd12 C T 17: 66,356,943 (GRCm39) probably null Het
Arhgef33 A G 17: 80,688,863 (GRCm39) K820E probably damaging Het
Aspm T C 1: 139,406,873 (GRCm39) L1920P probably damaging Het
Atad2 A G 15: 57,963,350 (GRCm39) probably benign Het
Atp2b2 A T 6: 113,770,835 (GRCm39) V358E probably benign Het
C3ar1 A C 6: 122,828,114 (GRCm39) C34W possibly damaging Het
C6 G A 15: 4,792,953 (GRCm39) V353M probably benign Het
Capn7 T C 14: 31,087,538 (GRCm39) I593T probably damaging Het
Casc3 T A 11: 98,712,319 (GRCm39) D119E probably damaging Het
Ccna1 T A 3: 54,961,785 (GRCm39) E45V probably damaging Het
Cdc37 A G 9: 21,053,576 (GRCm39) V180A probably benign Het
Cdh23 A G 10: 60,152,838 (GRCm39) I2393T probably damaging Het
Cnbd1 T C 4: 18,906,988 (GRCm39) probably benign Het
Cngb3 A T 4: 19,280,975 (GRCm39) M15L probably benign Het
Crygn A G 5: 24,961,036 (GRCm39) M90T possibly damaging Het
Cse1l T A 2: 166,782,008 (GRCm39) S661R probably benign Het
D830013O20Rik C T 12: 73,411,095 (GRCm39) noncoding transcript Het
Ddx24 C T 12: 103,385,220 (GRCm39) probably null Het
Dnah3 A T 7: 119,676,998 (GRCm39) probably null Het
Dnah9 C T 11: 65,786,731 (GRCm39) G3634E probably benign Het
Dnttip2 A T 3: 122,069,810 (GRCm39) T342S probably benign Het
Evx2 G T 2: 74,489,388 (GRCm39) R125S probably damaging Het
Fbxl5 A T 5: 43,928,140 (GRCm39) L40Q probably damaging Het
Git1 T A 11: 77,391,899 (GRCm39) D240E probably benign Het
Glp2r T A 11: 67,600,534 (GRCm39) K438N probably damaging Het
Hivep1 T A 13: 42,309,629 (GRCm39) I623N probably benign Het
Il17re A G 6: 113,443,098 (GRCm39) E312G probably damaging Het
Itgb7 G A 15: 102,130,618 (GRCm39) probably benign Het
Itpr3 A G 17: 27,333,088 (GRCm39) Y1900C probably damaging Het
Krt1c G A 15: 101,721,626 (GRCm39) Q472* probably null Het
Krtap5-1 A C 7: 141,850,434 (GRCm39) C125G unknown Het
Macf1 A G 4: 123,328,709 (GRCm39) S2554P probably damaging Het
Marchf10 C T 11: 105,276,351 (GRCm39) G646R probably damaging Het
Mrpl48 A C 7: 100,195,560 (GRCm39) probably benign Het
Myo16 A T 8: 10,365,538 (GRCm39) probably benign Het
Nrcam A T 12: 44,631,628 (GRCm39) E1060D probably benign Het
Nsd3 T A 8: 26,170,709 (GRCm39) C731S probably damaging Het
Nup85 T G 11: 115,455,357 (GRCm39) M1R probably null Het
Nxnl2 G T 13: 51,325,483 (GRCm39) R42L probably damaging Het
Oas3 G A 5: 120,894,210 (GRCm39) R39C probably damaging Het
Or13c25 G A 4: 52,910,849 (GRCm39) T315M probably benign Het
Orc1 C T 4: 108,471,505 (GRCm39) R786* probably null Het
P2ry6 A T 7: 100,587,904 (GRCm39) W152R probably damaging Het
Pex5l T C 3: 33,047,102 (GRCm39) N283D possibly damaging Het
Pgk2 T C 17: 40,518,622 (GRCm39) I269V probably benign Het
Phgdh T G 3: 98,223,866 (GRCm39) probably benign Het
Pzp A T 6: 128,464,441 (GRCm39) L1362Q probably damaging Het
Rbbp9 T C 2: 144,390,026 (GRCm39) probably benign Het
Rffl A G 11: 82,700,989 (GRCm39) L244P probably damaging Het
Serpina11 T C 12: 103,952,131 (GRCm39) Y213C probably damaging Het
Spopfm1 A G 3: 94,173,229 (GRCm39) Y79C possibly damaging Het
Srsf11 A G 3: 157,742,172 (GRCm39) probably benign Het
Sspo T A 6: 48,463,570 (GRCm39) V3785E probably benign Het
Svep1 A T 4: 58,089,514 (GRCm39) S1632T possibly damaging Het
Tm4sf1 T A 3: 57,200,480 (GRCm39) D74V probably damaging Het
Tmprss15 T A 16: 78,831,222 (GRCm39) T393S probably benign Het
Tnfaip3 A G 10: 18,881,461 (GRCm39) L275P probably damaging Het
Trim30c A G 7: 104,031,636 (GRCm39) V393A probably benign Het
Tssk2 T A 16: 17,717,439 (GRCm39) S281T probably benign Het
Tubb4a A G 17: 57,388,499 (GRCm39) S176P probably damaging Het
Unc45b T A 11: 82,828,654 (GRCm39) M785K probably damaging Het
Vldlr A T 19: 27,215,786 (GRCm39) D261V probably damaging Het
Vmn1r176 G T 7: 23,535,010 (GRCm39) Q48K probably benign Het
Vmn2r110 A T 17: 20,794,317 (GRCm39) L784Q probably benign Het
Vps13b A G 15: 35,472,045 (GRCm39) T783A probably benign Het
Zfp800 A G 6: 28,243,846 (GRCm39) M373T probably damaging Het
Zmym1 A G 4: 126,941,704 (GRCm39) F895L possibly damaging Het
Other mutations in Arl9
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R3547:Arl9 UTSW 5 77,158,326 (GRCm39) missense probably benign 0.01
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'- CTGTGGAACTGCACAGGACATACAT -3'
(R):5'- TGTTGCCAGCACTACAAAGGGAGA -3'

Sequencing Primer
(F):5'- ACATTCTAAGATTTGAgtgtgtgtg -3'
(R):5'- AGTGTCACATCCTGCAAGGTC -3'
Posted On 2013-04-16