Incidental Mutation 'IGL00972:Ntn1'
ID 28636
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ntn1
Ensembl Gene ENSMUSG00000020902
Gene Name netrin 1
Synonyms Netrin-1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.673) question?
Stock # IGL00972
Quality Score
Status
Chromosome 11
Chromosomal Location 68100190-68277652 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 68104098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 517 (I517F)
Ref Sequence ENSEMBL: ENSMUSP00000104314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021284] [ENSMUST00000108674]
AlphaFold O09118
Predicted Effect possibly damaging
Transcript: ENSMUST00000021284
AA Change: I517F

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021284
Gene: ENSMUSG00000020902
AA Change: I517F

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
LamNT 45 283 7.14e-148 SMART
EGF_Lam 285 338 2.44e-9 SMART
EGF_Lam 341 401 3.01e-9 SMART
EGF_Lam 404 451 8.43e-13 SMART
C345C 487 595 1.67e-37 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108674
AA Change: I517F

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104314
Gene: ENSMUSG00000020902
AA Change: I517F

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
LamNT 45 283 7.14e-148 SMART
EGF_Lam 285 338 2.44e-9 SMART
EGF_Lam 341 401 3.01e-9 SMART
EGF_Lam 404 451 8.43e-13 SMART
C345C 487 595 1.67e-37 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Netrin is included in a family of laminin-related secreted proteins. The function of this gene has not yet been defined; however, netrin is thought to be involved in axon guidance and cell migration during development. Mutations and loss of expression of netrin suggest that variation in netrin may be involved in cancer development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations exhibit impaired axonal migration, abnormal semicircular canals, lack of corpus callosum, aberrant commissures, hypoplasia of the optic nerve, motor and balance defects, failure to suckle, and neonatal death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A G 4: 124,504,484 (GRCm39) F23L probably damaging Het
Abcf3 A T 16: 20,370,434 (GRCm39) M320L probably damaging Het
Adam4 A T 12: 81,467,423 (GRCm39) H399Q probably damaging Het
Ank1 A G 8: 23,631,660 (GRCm39) K140E probably damaging Het
Atg2a G A 19: 6,304,629 (GRCm39) C1162Y probably damaging Het
Atp2b1 T A 10: 98,850,906 (GRCm39) I34N probably damaging Het
Bin1 A T 18: 32,557,887 (GRCm39) E260V probably benign Het
Birc2 G A 9: 7,833,716 (GRCm39) S255L probably benign Het
Cdc42bpa A G 1: 179,902,249 (GRCm39) Q502R probably benign Het
Cep170 A G 1: 176,563,262 (GRCm39) V1584A probably benign Het
Commd3 A T 2: 18,679,476 (GRCm39) R120S probably benign Het
Cyp39a1 A T 17: 44,012,434 (GRCm39) I304L probably benign Het
Cyp3a44 A T 5: 145,716,534 (GRCm39) M352K possibly damaging Het
Dna2 T C 10: 62,786,602 (GRCm39) Y117H probably benign Het
Dnah6 A G 6: 73,060,140 (GRCm39) probably benign Het
Dsc1 G A 18: 20,221,420 (GRCm39) P685L probably benign Het
Efna5 T A 17: 62,920,374 (GRCm39) I168L possibly damaging Het
Ephx1 A G 1: 180,827,365 (GRCm39) F96S probably benign Het
Fig4 A T 10: 41,127,784 (GRCm39) I560K probably damaging Het
Fktn T A 4: 53,734,992 (GRCm39) I210N probably damaging Het
Fmnl1 T C 11: 103,071,781 (GRCm39) V96A probably damaging Het
Gabra1 T G 11: 42,024,453 (GRCm39) E407D probably benign Het
Gm5277 A T 3: 78,799,593 (GRCm39) noncoding transcript Het
H2-M10.5 A T 17: 37,084,227 (GRCm39) E63V possibly damaging Het
Icam5 T A 9: 20,945,993 (GRCm39) V275E probably damaging Het
Kel G A 6: 41,665,000 (GRCm39) A588V possibly damaging Het
Klra5 T A 6: 129,883,568 (GRCm39) E96D probably damaging Het
Limd1 C T 9: 123,309,141 (GRCm39) T280I probably benign Het
Mul1 C A 4: 138,165,628 (GRCm39) S95* probably null Het
Nlrp4a T C 7: 26,156,473 (GRCm39) S733P probably benign Het
Ntrk3 T A 7: 77,897,070 (GRCm39) M656L possibly damaging Het
Oacyl T G 18: 65,858,572 (GRCm39) L226R possibly damaging Het
Or1ad6 A T 11: 50,859,946 (GRCm39) M34L probably benign Het
Or4f61 A T 2: 111,922,439 (GRCm39) N202K probably damaging Het
Or5ac17 A G 16: 59,036,829 (GRCm39) I49T probably damaging Het
Pibf1 T A 14: 99,416,885 (GRCm39) L486* probably null Het
Pla2g4c A G 7: 13,074,583 (GRCm39) Y253C probably benign Het
Rims3 C A 4: 120,748,583 (GRCm39) A268E probably benign Het
Rpl12 T C 2: 32,853,759 (GRCm39) I129T probably benign Het
Rsl1 A T 13: 67,329,862 (GRCm39) K103N probably benign Het
Scn11a A T 9: 119,623,004 (GRCm39) W612R probably benign Het
Sdk2 G A 11: 113,745,210 (GRCm39) T695M possibly damaging Het
Slc17a1 T A 13: 24,062,437 (GRCm39) probably benign Het
Stam A T 2: 14,120,779 (GRCm39) probably benign Het
Tacr3 T G 3: 134,638,116 (GRCm39) N424K probably benign Het
Tas1r2 C T 4: 139,387,347 (GRCm39) R240W probably damaging Het
Tle1 T C 4: 72,040,637 (GRCm39) R648G probably damaging Het
Tmem92 T C 11: 94,673,254 (GRCm39) D3G possibly damaging Het
Trip11 T C 12: 101,860,596 (GRCm39) I250V probably null Het
Tspan8 C T 10: 115,680,044 (GRCm39) probably benign Het
Vmn1r128 A G 7: 21,084,001 (GRCm39) E235G probably benign Het
Vmn1r220 A G 13: 23,368,558 (GRCm39) L46P probably damaging Het
Vmn2r9 T C 5: 108,996,903 (GRCm39) E122G probably benign Het
Zfp27 A T 7: 29,594,383 (GRCm39) N527K probably damaging Het
Other mutations in Ntn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Ntn1 APN 11 68,117,445 (GRCm39) splice site probably benign
IGL01695:Ntn1 APN 11 68,117,430 (GRCm39) missense probably benign 0.00
IGL01731:Ntn1 APN 11 68,276,244 (GRCm39) missense probably damaging 1.00
IGL02008:Ntn1 APN 11 68,104,089 (GRCm39) missense probably damaging 1.00
IGL02584:Ntn1 APN 11 68,168,356 (GRCm39) missense probably damaging 1.00
IGL02664:Ntn1 APN 11 68,276,295 (GRCm39) missense probably benign 0.06
R0363:Ntn1 UTSW 11 68,276,369 (GRCm39) missense probably benign 0.44
R1201:Ntn1 UTSW 11 68,104,052 (GRCm39) missense probably damaging 0.96
R1268:Ntn1 UTSW 11 68,103,959 (GRCm39) small deletion probably benign
R1913:Ntn1 UTSW 11 68,104,011 (GRCm39) missense probably damaging 1.00
R2245:Ntn1 UTSW 11 68,276,120 (GRCm39) missense probably benign 0.12
R2248:Ntn1 UTSW 11 68,168,398 (GRCm39) missense possibly damaging 0.95
R2359:Ntn1 UTSW 11 68,276,438 (GRCm39) missense probably damaging 1.00
R2862:Ntn1 UTSW 11 68,276,690 (GRCm39) missense probably benign 0.00
R3830:Ntn1 UTSW 11 68,276,619 (GRCm39) missense probably damaging 1.00
R3851:Ntn1 UTSW 11 68,276,619 (GRCm39) missense probably damaging 1.00
R3852:Ntn1 UTSW 11 68,276,619 (GRCm39) missense probably damaging 1.00
R4413:Ntn1 UTSW 11 68,276,736 (GRCm39) missense probably damaging 1.00
R4870:Ntn1 UTSW 11 68,103,852 (GRCm39) small deletion probably benign
R4871:Ntn1 UTSW 11 68,103,852 (GRCm39) small deletion probably benign
R4952:Ntn1 UTSW 11 68,103,852 (GRCm39) small deletion probably benign
R5001:Ntn1 UTSW 11 68,151,358 (GRCm39) missense probably damaging 1.00
R5279:Ntn1 UTSW 11 68,276,538 (GRCm39) missense probably benign 0.37
R6217:Ntn1 UTSW 11 68,104,158 (GRCm39) missense possibly damaging 0.91
R6505:Ntn1 UTSW 11 68,104,025 (GRCm39) missense probably damaging 1.00
R6669:Ntn1 UTSW 11 68,276,576 (GRCm39) missense probably benign 0.00
R7172:Ntn1 UTSW 11 68,276,493 (GRCm39) missense probably damaging 1.00
R7411:Ntn1 UTSW 11 68,276,915 (GRCm39) missense probably benign 0.15
R8314:Ntn1 UTSW 11 68,276,450 (GRCm39) missense probably damaging 1.00
R9216:Ntn1 UTSW 11 68,117,397 (GRCm39) missense possibly damaging 0.76
R9385:Ntn1 UTSW 11 68,276,013 (GRCm39) missense probably damaging 1.00
R9442:Ntn1 UTSW 11 68,148,485 (GRCm39) intron probably benign
R9697:Ntn1 UTSW 11 68,168,356 (GRCm39) missense probably damaging 1.00
R9752:Ntn1 UTSW 11 68,276,712 (GRCm39) missense possibly damaging 0.80
X0027:Ntn1 UTSW 11 68,276,462 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17