Incidental Mutation 'IGL02373:Iglon5'
ID291002
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Iglon5
Ensembl Gene ENSMUSG00000013367
Gene NameIgLON family member 5
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #IGL02373
Quality Score
Status
Chromosome7
Chromosomal Location43472904-43490075 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 43479219 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 58 (E58G)
Ref Sequence ENSEMBL: ENSMUSP00000103608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107974]
Predicted Effect probably benign
Transcript: ENSMUST00000107974
AA Change: E58G

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000103608
Gene: ENSMUSG00000013367
AA Change: E58G

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
IG 39 130 1.7e-6 SMART
IGc2 145 202 4.45e-10 SMART
IGc2 229 298 1.69e-10 SMART
low complexity region 323 334 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000206336
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 C T 4: 86,249,805 L462F probably damaging Het
Adgrv1 T C 13: 81,459,713 D4080G possibly damaging Het
Apc A C 18: 34,316,159 D2002A probably damaging Het
Apobr T A 7: 126,585,391 F25I probably damaging Het
Cyp4a10 T A 4: 115,521,077 L120* probably null Het
Daam2 A G 17: 49,473,380 S704P probably damaging Het
Dcst1 G T 3: 89,357,891 N217K probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fmn1 C A 2: 113,364,126 P57Q unknown Het
Galnt1 G A 18: 24,280,035 G464D possibly damaging Het
Ggcx T A 6: 72,427,919 W437R probably damaging Het
Gm11487 T C 4: 73,403,643 M52V probably benign Het
Igkv13-54-1 T C 6: 69,617,320 noncoding transcript Het
Met C T 6: 17,491,529 P97S probably damaging Het
Myg1 T A 15: 102,336,833 M158K probably damaging Het
Ncald T A 15: 37,372,209 M131L probably benign Het
Nipa2 T C 7: 55,933,128 I290V probably benign Het
Olfr1307 C A 2: 111,944,833 V208L probably benign Het
Olfr507 A T 7: 108,622,103 Y97F probably benign Het
Olfr818 A G 10: 129,945,465 L84S probably benign Het
Ppfia3 C T 7: 45,358,849 R48Q probably damaging Het
Rab12 A G 17: 66,498,065 L156P probably damaging Het
Slc28a3 C T 13: 58,578,404 probably null Het
Slc4a11 T C 2: 130,684,898 N770S probably benign Het
Tanc1 T C 2: 59,796,028 probably null Het
Vmn2r-ps130 A T 17: 23,076,892 R679* probably null Het
Vwa5b2 G A 16: 20,604,844 R1169H probably damaging Het
Other mutations in Iglon5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01748:Iglon5 APN 7 43476529 splice site probably benign
R0219:Iglon5 UTSW 7 43476837 missense probably damaging 1.00
R1381:Iglon5 UTSW 7 43476640 missense probably benign 0.10
R1503:Iglon5 UTSW 7 43479025 missense probably benign 0.05
R1827:Iglon5 UTSW 7 43479121 missense probably benign 0.01
R2233:Iglon5 UTSW 7 43480638 missense probably damaging 0.98
R2234:Iglon5 UTSW 7 43480638 missense probably damaging 0.98
R2235:Iglon5 UTSW 7 43480638 missense probably damaging 0.98
R3772:Iglon5 UTSW 7 43480613 nonsense probably null
R6388:Iglon5 UTSW 7 43478132 missense possibly damaging 0.92
R7000:Iglon5 UTSW 7 43476830 critical splice donor site probably null
R7015:Iglon5 UTSW 7 43476927 missense probably benign 0.00
R7020:Iglon5 UTSW 7 43476895 missense probably damaging 1.00
Posted On2015-04-16