Incidental Mutation 'IGL02891:Ntn5'
ID363184
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ntn5
Ensembl Gene ENSMUSG00000070564
Gene Namenetrin 5
SynonymsLOC243967
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #IGL02891
Quality Score
Status
Chromosome7
Chromosomal Location45684022-45694556 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 45686224 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 26 (L26F)
Ref Sequence ENSEMBL: ENSMUSP00000138144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040636] [ENSMUST00000107742] [ENSMUST00000182750] [ENSMUST00000183120]
Predicted Effect probably benign
Transcript: ENSMUST00000040636
SMART Domains Protein: ENSMUSP00000045229
Gene: ENSMUSG00000040364

DomainStartEndE-ValueType
Pfam:Glyco_transf_11 55 362 1.6e-146 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107742
AA Change: L26F

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103371
Gene: ENSMUSG00000070564
AA Change: L26F

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
low complexity region 115 130 N/A INTRINSIC
EGF_Lam 173 225 4.1e-2 SMART
EGF_Lam 228 275 1.75e-10 SMART
low complexity region 281 289 N/A INTRINSIC
C345C 313 432 4.71e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182750
SMART Domains Protein: ENSMUSP00000138412
Gene: ENSMUSG00000070564

DomainStartEndE-ValueType
EGF_Lam 41 93 4.1e-2 SMART
EGF_Lam 96 156 3.59e-7 SMART
EGF_Lam 159 206 1.75e-10 SMART
low complexity region 212 220 N/A INTRINSIC
C345C 244 363 4.71e-23 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000183120
AA Change: L26F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138144
Gene: ENSMUSG00000070564
AA Change: L26F

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
low complexity region 115 130 N/A INTRINSIC
EGF_Lam 173 225 4.1e-2 SMART
EGF_Lam 228 275 1.75e-10 SMART
low complexity region 281 289 N/A INTRINSIC
low complexity region 346 357 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit ectopic motor neurons that migrate out of the ventral horn and into the motor roots. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417C22Rik C T 3: 108,464,392 R672Q probably benign Het
Abca17 A G 17: 24,281,366 S1284P probably damaging Het
Adgrf1 T C 17: 43,311,161 V763A probably damaging Het
Adhfe1 T A 1: 9,558,171 M256K probably benign Het
Chit1 A G 1: 134,145,310 S125G probably benign Het
Clu T A 14: 65,975,984 F273Y probably damaging Het
Dgki T C 6: 36,913,741 D869G probably benign Het
Emx1 T C 6: 85,204,085 probably benign Het
Ercc2 T G 7: 19,393,286 F316C probably damaging Het
Fam81a A G 9: 70,110,276 L129P probably damaging Het
Fat4 T A 3: 38,951,273 N1940K probably damaging Het
Fbxl13 G A 5: 21,522,100 probably benign Het
Kcnt2 T A 1: 140,574,806 D879E probably damaging Het
Kti12 T G 4: 108,848,533 S215A probably benign Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Nwd2 A G 5: 63,725,227 N74S possibly damaging Het
Olfr109 T A 17: 37,466,944 V246E probably damaging Het
Olfr709-ps1 A G 7: 106,927,081 V126A probably damaging Het
Phactr4 T C 4: 132,387,023 D20G probably damaging Het
Ptpn23 G A 9: 110,388,020 Q923* probably null Het
Rfx6 T A 10: 51,723,846 S333T possibly damaging Het
Skint10 T A 4: 112,728,826 I198F probably benign Het
Spata5 T A 3: 37,426,192 V130D probably damaging Het
Taf3 G A 2: 9,921,227 P647L probably damaging Het
Tbcb T C 7: 30,233,434 probably benign Het
Tmem63c T C 12: 87,071,268 F216L probably benign Het
Ttc30b C T 2: 75,937,060 V450M possibly damaging Het
Uba5 A G 9: 104,054,193 probably benign Het
Usp34 C A 11: 23,487,166 Q217K probably benign Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Vmn2r99 G A 17: 19,378,690 W212* probably null Het
Zfp687 G T 3: 95,011,946 P172T probably damaging Het
Other mutations in Ntn5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01726:Ntn5 APN 7 45694247 missense probably damaging 1.00
IGL02024:Ntn5 APN 7 45691406 splice site probably benign
IGL02029:Ntn5 APN 7 45686591 missense probably benign 0.00
IGL02302:Ntn5 APN 7 45694248 missense probably damaging 1.00
IGL02676:Ntn5 APN 7 45691876 splice site probably benign
PIT4418001:Ntn5 UTSW 7 45686501 missense probably damaging 0.97
R0179:Ntn5 UTSW 7 45686313 missense probably damaging 0.99
R0594:Ntn5 UTSW 7 45686681 missense probably damaging 0.99
R0755:Ntn5 UTSW 7 45686528 missense probably benign 0.26
R1200:Ntn5 UTSW 7 45692382 missense possibly damaging 0.94
R4779:Ntn5 UTSW 7 45691471 missense probably damaging 1.00
R5974:Ntn5 UTSW 7 45691424 missense probably damaging 1.00
R5978:Ntn5 UTSW 7 45694013 missense possibly damaging 0.91
R6189:Ntn5 UTSW 7 45693220 missense probably benign
R6738:Ntn5 UTSW 7 45694356 start gained probably null
R7169:Ntn5 UTSW 7 45686774 nonsense probably null
RF009:Ntn5 UTSW 7 45693260 splice site probably null
Z1088:Ntn5 UTSW 7 45694203 missense probably damaging 1.00
Posted On2015-12-18