Incidental Mutation 'IGL03168:Arglu1'
ID411716
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arglu1
Ensembl Gene ENSMUSG00000040459
Gene Namearginine and glutamate rich 1
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.929) question?
Stock #IGL03168
Quality Score
Status
Chromosome8
Chromosomal Location8665075-8690521 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 8683960 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 119 (I119L)
Ref Sequence ENSEMBL: ENSMUSP00000039493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048545] [ENSMUST00000207817]
Predicted Effect probably benign
Transcript: ENSMUST00000048545
AA Change: I119L

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000039493
Gene: ENSMUSG00000040459
AA Change: I119L

DomainStartEndE-ValueType
low complexity region 3 75 N/A INTRINSIC
low complexity region 95 113 N/A INTRINSIC
Pfam:ARGLU 117 267 8.2e-55 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207070
Predicted Effect unknown
Transcript: ENSMUST00000207817
AA Change: I117L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208252
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c6 T C 13: 4,436,281 V29A probably benign Het
Ankk1 C A 9: 49,415,768 A704S possibly damaging Het
Aph1c G A 9: 66,833,337 probably benign Het
Brwd1 A T 16: 96,017,677 S1318R possibly damaging Het
Chd3 A G 11: 69,348,915 probably benign Het
Colq T C 14: 31,524,420 Y445C probably damaging Het
Cyp2a4 A T 7: 26,313,550 probably benign Het
Cyp2j7 C T 4: 96,230,037 M106I probably benign Het
Erfe T G 1: 91,371,442 N302K probably damaging Het
Fam26d C T 10: 34,041,556 V300I probably benign Het
Fggy A T 4: 95,926,809 probably benign Het
Gata3 A G 2: 9,868,814 Y290H probably damaging Het
Grik4 T C 9: 42,671,243 T136A probably damaging Het
Hc G T 2: 35,024,198 N832K probably benign Het
Jhy A T 9: 40,917,552 S353T possibly damaging Het
Krt40 T A 11: 99,543,028 Q44L possibly damaging Het
Ksr2 T C 5: 117,748,781 F794S probably damaging Het
Olfr1094 A G 2: 86,829,263 I170M possibly damaging Het
Olfr1178 A G 2: 88,391,594 M116V probably damaging Het
Olfr138 A C 17: 38,274,791 S7R probably damaging Het
Olfr166 A T 16: 19,487,219 H127L probably benign Het
Olfr198 A G 16: 59,202,247 Y60H probably damaging Het
Olfr905 A G 9: 38,473,019 T91A probably benign Het
Pcdhb17 A G 18: 37,485,772 E205G probably benign Het
Pon3 A T 6: 5,256,177 I17K possibly damaging Het
Prkd2 A G 7: 16,850,263 D347G possibly damaging Het
Prkdc A G 16: 15,834,166 I3806V probably benign Het
Qpct C A 17: 79,052,324 A20E unknown Het
Rap1a A G 3: 105,750,271 S11P probably damaging Het
Rnf145 C A 11: 44,555,158 T273K probably damaging Het
Speg T C 1: 75,388,187 I298T probably damaging Het
Syt6 G A 3: 103,587,627 V303M probably damaging Het
Tpr A G 1: 150,408,757 I324M probably benign Het
Uggt2 A G 14: 119,077,668 F330L probably damaging Het
Unc45a A T 7: 80,333,133 L348Q probably damaging Het
Vmn1r17 T A 6: 57,360,598 I212F probably benign Het
Vmn2r68 A C 7: 85,221,764 N770K probably damaging Het
Zfhx3 T C 8: 108,946,500 V1394A probably damaging Het
Other mutations in Arglu1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01294:Arglu1 APN 8 8683739 splice site probably benign
IGL03053:Arglu1 APN 8 8683960 missense probably benign 0.16
R1671:Arglu1 UTSW 8 8683896 missense possibly damaging 0.51
R5212:Arglu1 UTSW 8 8683843 missense probably damaging 0.99
R5933:Arglu1 UTSW 8 8690047 missense probably benign 0.18
R7078:Arglu1 UTSW 8 8667361 missense probably benign 0.11
R7885:Arglu1 UTSW 8 8667337 missense possibly damaging 0.95
Posted On2016-08-02