Incidental Mutation 'IGL03053:Arglu1'
ID409134
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: 0.925) question?
Stock #IGL03053
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 G A 4: 106,755,853 Q342* probably null Het
Atp1a2 G A 1: 172,278,356 T914I probably damaging Het
Birc6 C T 17: 74,565,972 R409C probably damaging Het
Brwd1 A T 16: 96,017,677 S1318R possibly damaging Het
C1qtnf12 A T 4: 155,966,464 N297Y probably damaging Het
Cbwd1 T A 19: 24,955,377 E97D probably damaging Het
Cyp2a4 A T 7: 26,313,550 probably benign Het
Cyp2j7 C T 4: 96,230,037 M106I probably benign Het
Dis3 A G 14: 99,098,734 V112A probably benign Het
Ehd3 A G 17: 73,805,442 Y67C probably damaging Het
Elavl4 A T 4: 110,251,494 S16T possibly damaging Het
F2rl1 A C 13: 95,513,618 V252G probably benign Het
Fggy A T 4: 95,926,809 probably benign Het
Hc G T 2: 35,024,198 N832K probably benign Het
Hnf1a T A 5: 114,970,733 M38L probably benign Het
Kif13a T C 13: 46,752,088 N793S probably benign Het
Kit A G 5: 75,610,914 N244D probably benign Het
Mb21d1 A T 9: 78,437,437 F234Y probably benign Het
Mgat5b A G 11: 116,923,450 E60G possibly damaging Het
Obsl1 T C 1: 75,493,079 H1098R probably benign Het
Olfr1094 A G 2: 86,829,263 I170M possibly damaging Het
Olfr1178 A G 2: 88,391,594 M116V probably damaging Het
Olfr1230 A C 2: 89,296,445 I275S 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
Olfr215 T C 6: 116,582,245 R234G possibly damaging Het
Pitpnm2 A G 5: 124,143,601 I42T probably damaging Het
Prkd2 A G 7: 16,850,263 D347G possibly damaging Het
Prkdc A G 16: 15,834,166 I3806V probably benign Het
Rasgrp2 T C 19: 6,407,332 probably benign Het
Rc3h1 T A 1: 160,955,817 D734E probably benign Het
Rtel1 A G 2: 181,351,944 K619E probably benign Het
Tnfrsf26 T C 7: 143,614,860 D147G possibly damaging Het
Ufl1 A G 4: 25,275,833 I110T probably damaging Het
Ugt2b36 A G 5: 87,092,074 S151P possibly damaging Het
Vmn2r25 T C 6: 123,823,118 Y755C probably damaging Het
Zfhx3 T C 8: 108,946,500 V1394A probably damaging Het
Zzef1 G T 11: 72,831,539 probably benign Het
Other mutations in Arglu1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01294:Arglu1 APN 8 8683739 splice site probably benign
IGL03168: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