Incidental Mutation 'IGL00538:Arl9'
List |< first << previous [record 96 of 1308] next >> last >|
ID6422
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? Probably non essential (E-score: 0.157) question?
Stock #IGL00538
Quality Score
Status
Chromosome5
Chromosomal Location77004055-77010606 bp(+) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) T to A at 77004056 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000071188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071199] [ENSMUST00000101087] [ENSMUST00000134197]
Predicted Effect probably null
Transcript: ENSMUST00000071199
AA Change: M1K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000071188
Gene: ENSMUSG00000063820
AA Change: M1K

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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asf1a T C 10: 53,606,131 L13P probably damaging Het
Atg2b T G 12: 105,644,916 H1252P probably benign Het
Cacna2d1 C T 5: 16,246,785 R216* probably null Het
Cdc42ep3 G A 17: 79,335,455 A12V possibly damaging Het
Cntn3 G A 6: 102,420,262 Q117* probably null Het
Cyp3a41b G A 5: 145,578,200 probably benign Het
Dhx36 T C 3: 62,501,045 E124G probably benign Het
Galnt7 T A 8: 57,552,522 T226S possibly damaging Het
H2al3 T A X: 9,850,005 probably benign Het
Ighv1-7 C A 12: 114,538,761 E29* probably null Het
Iqcb1 G T 16: 36,858,586 V421F probably benign Het
Lrrc8c G A 5: 105,607,210 V284I probably damaging Het
Rpp14 G A 14: 8,083,934 G30E possibly damaging Het
Samd9l A T 6: 3,376,779 Y161N probably damaging Het
Slc14a1 A T 18: 78,104,073 F313Y probably damaging Het
Taco1 T A 11: 106,071,979 I164N probably damaging Het
Tenm3 G T 8: 48,236,025 H2176N probably damaging Het
Tmem156 T C 5: 65,073,840 Y165C probably damaging Het
Trpc7 A T 13: 56,773,809 N731K possibly damaging Het
Ubox5 T C 2: 130,599,888 N293S probably damaging Het
Other mutations in Arl9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Arl9 APN 5 77006554 missense possibly damaging 0.63
IGL01557:Arl9 APN 5 77004101 critical splice donor site probably null
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
Posted On2012-04-20