Incidental Mutation 'IGL02024:Unc5d'
ID184086
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Unc5d
Ensembl Gene ENSMUSG00000063626
Gene Nameunc-5 netrin receptor D
SynonymsUnc5h4, D930029E11Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.309) question?
Stock #IGL02024
Quality Score
Status
Chromosome8
Chromosomal Location28646717-29219636 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 28652827 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 866 (I866F)
Ref Sequence ENSEMBL: ENSMUSP00000147306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168630] [ENSMUST00000209401] [ENSMUST00000210298] [ENSMUST00000210785] [ENSMUST00000211448]
Predicted Effect probably benign
Transcript: ENSMUST00000168630
AA Change: I938F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000128521
Gene: ENSMUSG00000063626
AA Change: I938F

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
SCOP:d1cs6a2 52 146 5e-3 SMART
IGc2 169 236 2.66e-8 SMART
TSP1 253 304 2.29e-13 SMART
TSP1 309 358 6.33e-7 SMART
transmembrane domain 383 405 N/A INTRINSIC
Pfam:ZU5 545 642 1.6e-33 PFAM
DEATH 850 941 4.77e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000209401
AA Change: I864F

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000210298
AA Change: I857F

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000210785
AA Change: I920F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000211448
AA Change: I866F

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice exhibit impaired induced growth cone collapse response and accelerated radial migration of cortical neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930415L06Rik G A X: 89,931,523 T356I probably benign Het
Aass G A 6: 23,113,706 H246Y probably damaging Het
Abat G A 16: 8,611,136 A322T probably damaging Het
Bcat1 A G 6: 145,032,838 V152A probably damaging Het
Btaf1 A G 19: 36,992,426 probably benign Het
Elavl2 T C 4: 91,253,539 T291A probably benign Het
Ezh1 G T 11: 101,199,340 H529Q probably damaging Het
Fcgbp G A 7: 28,106,374 C2026Y probably damaging Het
Fcgrt T A 7: 45,095,258 H258L probably damaging Het
Galnt6 C T 15: 100,703,493 D302N probably benign Het
Gldc T A 19: 30,100,827 R923S probably damaging Het
Hspg2 G T 4: 137,540,073 A2033S probably damaging Het
Htr2c T A X: 147,075,925 M77K probably damaging Het
Ifi208 A G 1: 173,683,290 Y337C probably damaging Het
Ints11 G T 4: 155,888,515 W554L probably damaging Het
Itgbl1 T A 14: 123,857,492 C186S probably damaging Het
Lipf A G 19: 33,976,595 Y362C probably damaging Het
Map2k7 T A 8: 4,247,663 S421R possibly damaging Het
Mroh9 T G 1: 163,062,502 N222T possibly damaging Het
Msl3 C A X: 168,670,251 R89L probably benign Het
Nrip1 T A 16: 76,291,675 D998V probably benign Het
Nrk T A X: 138,995,929 I1265N probably damaging Het
Ntn5 A G 7: 45,691,406 probably benign Het
Olfr1153 A T 2: 87,896,899 R233S possibly damaging Het
Olfr743 A G 14: 50,533,850 N146S probably benign Het
Olfr750 T G 14: 51,071,309 E28A probably benign Het
Plch2 T C 4: 155,043,138 probably benign Het
Porcn C T X: 8,201,662 V233I probably benign Het
Ppp2r2a T C 14: 67,038,912 K48R probably benign Het
Rccd1 A T 7: 80,319,007 D268E probably benign Het
Sacs C A 14: 61,189,678 S178R probably damaging Het
Samd12 T A 15: 53,658,466 D116V probably damaging Het
Slc12a8 A G 16: 33,608,198 E46G probably damaging Het
Slc30a10 A T 1: 185,455,241 I60F possibly damaging Het
Slc6a8 C T X: 73,678,977 probably benign Het
Sos2 A G 12: 69,618,048 probably benign Het
Tbc1d31 T C 15: 57,919,942 V79A probably benign Het
Tmem184c A T 8: 77,604,814 V102E probably benign Het
Ttc19 G T 11: 62,313,113 R300I probably damaging Het
Vmn1r7 A T 6: 57,024,889 C129S probably benign Het
Vps41 T A 13: 18,791,657 probably benign Het
Vwa8 C T 14: 79,094,284 A1275V possibly damaging Het
Other mutations in Unc5d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Unc5d APN 8 28719826 missense probably damaging 0.97
IGL00687:Unc5d APN 8 28715813 splice site probably benign
IGL00970:Unc5d APN 8 28696428 missense probably benign 0.15
IGL01992:Unc5d APN 8 28652791 missense probably damaging 0.98
IGL02080:Unc5d APN 8 28891288 splice site probably null
IGL02902:Unc5d APN 8 28875606 missense probably damaging 1.00
IGL02982:Unc5d APN 8 28652853 missense probably damaging 1.00
R0071:Unc5d UTSW 8 28719826 missense possibly damaging 0.62
R0071:Unc5d UTSW 8 28719826 missense possibly damaging 0.62
R0761:Unc5d UTSW 8 28696532 intron probably null
R0941:Unc5d UTSW 8 28759027 missense possibly damaging 0.85
R1086:Unc5d UTSW 8 28875630 missense possibly damaging 0.87
R1625:Unc5d UTSW 8 28683206 missense probably damaging 1.00
R1635:Unc5d UTSW 8 28760749 missense probably benign 0.14
R1682:Unc5d UTSW 8 28759081 missense probably damaging 1.00
R1698:Unc5d UTSW 8 28696478 missense probably damaging 0.99
R2015:Unc5d UTSW 8 28758979 missense probably damaging 1.00
R2132:Unc5d UTSW 8 28875529 missense possibly damaging 0.50
R2174:Unc5d UTSW 8 28694540 missense probably damaging 0.99
R2210:Unc5d UTSW 8 28761797 missense probably damaging 0.97
R3684:Unc5d UTSW 8 28694592 missense probably damaging 1.00
R3734:Unc5d UTSW 8 28761798 missense probably benign 0.02
R4093:Unc5d UTSW 8 28844837 missense possibly damaging 0.87
R4287:Unc5d UTSW 8 28719796 missense probably benign 0.00
R4888:Unc5d UTSW 8 28666899 missense probably benign 0.02
R5000:Unc5d UTSW 8 28715747 missense possibly damaging 0.90
R5060:Unc5d UTSW 8 28719695 missense probably benign 0.00
R5076:Unc5d UTSW 8 28694676 missense possibly damaging 0.88
R5696:Unc5d UTSW 8 28666842 missense probably benign 0.06
R6024:Unc5d UTSW 8 28875511 missense possibly damaging 0.96
R6077:Unc5d UTSW 8 28675307 missense possibly damaging 0.94
R6259:Unc5d UTSW 8 28666792 missense probably benign 0.00
R6387:Unc5d UTSW 8 28875526 nonsense probably null
R7038:Unc5d UTSW 8 28715721 critical splice donor site probably null
X0058:Unc5d UTSW 8 28760730 missense probably benign 0.12
X0060:Unc5d UTSW 8 28694676 missense possibly damaging 0.88
Posted On2014-05-07