Incidental Mutation 'IGL01557:Arl9'
ID90762
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arl9
Ensembl Gene ENSMUSG00000063820
Gene NameADP-ribosylation factor-like 9
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01557
Quality Score
Status
Chromosome5
Chromosomal Location77004055-77010606 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 77004101 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000071188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071199] [ENSMUST00000101087] [ENSMUST00000134197]
Predicted Effect probably null
Transcript: ENSMUST00000071199
SMART Domains Protein: ENSMUSP00000071188
Gene: ENSMUSG00000063820

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 probably benign
Transcript: ENSMUST00000101087
SMART Domains Protein: ENSMUSP00000098648
Gene: ENSMUSG00000036323

DomainStartEndE-ValueType
low complexity region 3 11 N/A INTRINSIC
Pfam:TPR_9 19 70 2.7e-2 PFAM
Pfam:SRP_TPR_like 30 157 5.5e-25 PFAM
Pfam:TPR_8 176 208 2.3e-3 PFAM
Pfam:TPR_1 226 259 2.4e-4 PFAM
Pfam:TPR_2 226 259 4.9e-5 PFAM
Pfam:TPR_8 226 259 1.1e-2 PFAM
Pfam:TPR_9 412 490 1.3e-3 PFAM
Pfam:SRP72 531 588 6.2e-26 PFAM
low complexity region 630 639 N/A INTRINSIC
low complexity region 647 668 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129353
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132860
Predicted Effect probably benign
Transcript: ENSMUST00000134197
SMART Domains Protein: ENSMUSP00000122846
Gene: ENSMUSG00000063820

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
Coding Region Coverage
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 58,968,720 probably null Het
Ces3a C A 8: 105,057,751 T439K probably damaging Het
Cyp3a25 A G 5: 145,984,901 W408R probably damaging Het
Defb22 T G 2: 152,486,079 D62A possibly damaging Het
Dnah17 C T 11: 118,073,686 R2422Q probably damaging Het
Ehd3 A G 17: 73,805,280 K13R probably benign Het
Fndc1 T C 17: 7,756,389 E1406G probably damaging Het
Gak A C 5: 108,584,337 Y762D probably damaging Het
Igf2r A G 17: 12,704,635 S1187P possibly damaging Het
Ighmbp2 T C 19: 3,281,472 E68G probably benign Het
Itpr2 T C 6: 146,158,976 T2448A probably damaging Het
Lrrk2 T G 15: 91,699,989 C317W probably damaging Het
Morc1 T A 16: 48,498,766 S278T probably damaging Het
Mrps9 T C 1: 42,851,350 V20A probably benign Het
Nutm1 A T 2: 112,251,818 N304K probably benign Het
Olfr761 G A 17: 37,952,851 P58S probably damaging Het
Pcdhb9 T C 18: 37,403,047 V698A probably damaging Het
Pitrm1 C A 13: 6,552,684 D70E probably benign Het
Pkhd1 T C 1: 20,116,979 T3702A possibly damaging Het
Ppm1h A T 10: 122,782,181 probably null Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Ptpn5 T C 7: 47,081,888 Y411C probably damaging Het
Spon2 G A 5: 33,216,703 A112V probably damaging Het
Zfp648 T A 1: 154,204,680 V195D probably benign Het
Other mutations in Arl9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00538:Arl9 APN 5 77004056 start codon destroyed probably null 0.02
IGL01327:Arl9 APN 5 77006554 missense possibly damaging 0.63
IGL03068:Arl9 APN 5 77007378 missense possibly damaging 0.60
R0038:Arl9 UTSW 5 77006475 missense probably benign 0.00
R0195:Arl9 UTSW 5 77006494 missense probably damaging 1.00
R0322:Arl9 UTSW 5 77007190 intron probably benign
R0540:Arl9 UTSW 5 77007271 missense possibly damaging 0.91
R1614:Arl9 UTSW 5 77010565 missense probably benign
R1735:Arl9 UTSW 5 77006626 missense probably damaging 1.00
R3547:Arl9 UTSW 5 77010479 missense probably benign 0.01
R4296:Arl9 UTSW 5 77006549 missense probably damaging 1.00
R5520:Arl9 UTSW 5 77006593 missense probably damaging 1.00
R5731:Arl9 UTSW 5 77006527 missense possibly damaging 0.95
R6018:Arl9 UTSW 5 77007406 missense probably damaging 1.00
R6547:Arl9 UTSW 5 77010410 critical splice acceptor site probably null
R7203:Arl9 UTSW 5 77007271 missense possibly damaging 0.91
R7468:Arl9 UTSW 5 77010429 nonsense probably null
Posted On2013-12-09