Incidental Mutation 'IGL00155:Ntn1'
ID 1167
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: 0.735) question?
Stock # IGL00155
Quality Score
Status
Chromosome 11
Chromosomal Location 68100190-68277652 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 68117445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021284] [ENSMUST00000108674]
AlphaFold O09118
Predicted Effect probably benign
Transcript: ENSMUST00000021284
SMART Domains Protein: ENSMUSP00000021284
Gene: ENSMUSG00000020902

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 probably benign
Transcript: ENSMUST00000108674
SMART Domains Protein: ENSMUSP00000104314
Gene: ENSMUSG00000020902

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,590,235 (GRCm39) F498S probably damaging Het
Arhgap11a A G 2: 113,664,601 (GRCm39) S561P probably benign Het
Best3 T C 10: 116,824,632 (GRCm39) Y33H probably damaging Het
Cd209b T A 8: 3,969,945 (GRCm39) probably benign Het
Cep152 A G 2: 125,405,808 (GRCm39) S1575P probably benign Het
Crabp2 A G 3: 87,859,506 (GRCm39) Y52C probably damaging Het
Crybg1 T C 10: 43,868,505 (GRCm39) D1017G probably damaging Het
Ctnna2 A T 6: 76,957,744 (GRCm39) W137R probably damaging Het
Cxcl9 T A 5: 92,471,728 (GRCm39) H104L possibly damaging Het
Ddr2 A G 1: 169,811,996 (GRCm39) I742T possibly damaging Het
Frem1 A G 4: 82,877,626 (GRCm39) V223A possibly damaging Het
Fzd10 T A 5: 128,678,592 (GRCm39) I104N probably damaging Het
Greb1 A G 12: 16,761,962 (GRCm39) S473P probably damaging Het
Gtf2i T C 5: 134,271,602 (GRCm39) Y873C probably damaging Het
Igsf6 T A 7: 120,669,876 (GRCm39) K89* probably null Het
Ints3 A G 3: 90,313,636 (GRCm39) F331L probably damaging Het
Kcnh3 A T 15: 99,140,354 (GRCm39) H1080L possibly damaging Het
Mettl15 A T 2: 108,923,521 (GRCm39) Y300* probably null Het
Mms19 A G 19: 41,936,672 (GRCm39) F654L probably benign Het
Myc A G 15: 61,861,669 (GRCm39) H425R probably benign Het
Ormdl2 C A 10: 128,655,944 (GRCm39) G69W probably damaging Het
Pdpr T C 8: 111,828,704 (GRCm39) V69A possibly damaging Het
Rbbp6 T C 7: 122,587,908 (GRCm39) I254T probably damaging Het
Sema6d A G 2: 124,501,785 (GRCm39) R543G possibly damaging Het
Slc18a1 C T 8: 69,503,998 (GRCm39) A314T probably damaging Het
Slc22a26 A G 19: 7,760,201 (GRCm39) L514P probably damaging Het
Slc22a28 A C 19: 8,107,567 (GRCm39) S167A possibly damaging Het
Speer1m A G 5: 11,971,377 (GRCm39) S110G possibly damaging Het
Tchh A G 3: 93,352,606 (GRCm39) E682G unknown Het
Thbs2 A T 17: 14,889,097 (GRCm39) M1134K probably damaging Het
Tmem26 A G 10: 68,611,184 (GRCm39) S218G probably damaging Het
Tmprss11c A T 5: 86,387,254 (GRCm39) S208R probably benign Het
Tnfrsf8 T C 4: 145,019,161 (GRCm39) probably null Het
Ush2a T C 1: 188,596,875 (GRCm39) S3872P probably benign Het
Vmn1r69 T C 7: 10,313,879 (GRCm39) N205S probably benign Het
Vmn2r54 T A 7: 12,365,840 (GRCm39) probably benign Het
Wwtr1 A T 3: 57,370,942 (GRCm39) M328K possibly damaging Het
Zfp64 G A 2: 168,768,601 (GRCm39) S337L probably benign Het
Other mutations in Ntn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Ntn1 APN 11 68,104,098 (GRCm39) missense possibly damaging 0.83
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 2011-07-12