Incidental Mutation 'IGL00897:Nsg1'
ID27373
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nsg1
Ensembl Gene ENSMUSG00000029126
Gene Nameneuron specific gene family member 1
SynonymsNEEP21, m234, p21
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00897
Quality Score
Status
Chromosome5
Chromosomal Location38137192-38159907 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 38144716 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 117 (V117D)
Ref Sequence ENSEMBL: ENSMUSP00000144396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031009] [ENSMUST00000201341] [ENSMUST00000201363] [ENSMUST00000201415]
Predicted Effect probably damaging
Transcript: ENSMUST00000031009
AA Change: V117D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031009
Gene: ENSMUSG00000029126
AA Change: V117D

DomainStartEndE-ValueType
Pfam:Calcyon 1 180 1.2e-88 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000201341
AA Change: V117D

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144641
Gene: ENSMUSG00000029126
AA Change: V117D

DomainStartEndE-ValueType
Pfam:Calcyon 1 117 5.4e-56 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000201363
AA Change: V117D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144396
Gene: ENSMUSG00000029126
AA Change: V117D

DomainStartEndE-ValueType
Pfam:Calcyon 1 180 1.2e-88 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000201415
AA Change: V78D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143921
Gene: ENSMUSG00000029126
AA Change: V78D

DomainStartEndE-ValueType
Pfam:Calcyon 1 47 7.5e-19 PFAM
Pfam:Calcyon 43 141 1e-44 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 120,216,125 probably benign Het
Arsi A G 18: 60,912,430 Y64C probably damaging Het
Ascc3 A T 10: 50,728,091 E1302D probably benign Het
Aspm T C 1: 139,477,407 I1344T probably damaging Het
Atp2b1 T C 10: 99,015,020 I924T possibly damaging Het
Ccnb1 A G 13: 100,785,911 probably benign Het
Cps1 A G 1: 67,215,564 D1304G probably benign Het
Ctsq C A 13: 61,037,725 V201F probably damaging Het
Epb41 T A 4: 132,000,197 probably null Het
Fam196b T C 11: 34,403,011 V351A probably benign Het
Fat2 T C 11: 55,289,252 E1421G probably damaging Het
Flt1 T A 5: 147,589,854 Y873F probably benign Het
Fos C T 12: 85,476,346 T344I probably damaging Het
Gm11639 G A 11: 105,100,021 D293N probably damaging Het
Gsdme A G 6: 50,229,284 probably null Het
Inpp5d A G 1: 87,712,114 T846A probably benign Het
Kdm4c T C 4: 74,373,684 M846T probably damaging Het
Lrp2 A G 2: 69,521,881 F604L possibly damaging Het
Mab21l3 C A 3: 101,823,455 R156L probably damaging Het
Mrps9 A G 1: 42,905,459 E379G probably damaging Het
Myo16 T C 8: 10,315,518 L119P probably damaging Het
Neurod2 C T 11: 98,327,769 V190M probably damaging Het
Nprl2 T G 9: 107,545,528 N371K probably benign Het
Nr1d2 A T 14: 18,214,993 C340S probably benign Het
Olfr818 A T 10: 129,945,911 D50E possibly damaging Het
Olfr859 T G 9: 19,808,621 V101G probably damaging Het
Paqr4 T C 17: 23,737,570 D273G possibly damaging Het
Plcb4 A G 2: 135,971,798 T686A probably benign Het
Ppp1r8 G A 4: 132,827,902 A335V probably damaging Het
Slc4a2 T A 5: 24,429,559 Y65* probably null Het
Slco3a1 A T 7: 74,504,183 Y214N probably damaging Het
Tmem232 T C 17: 65,256,574 E608G possibly damaging Het
Vmn1r169 A T 7: 23,577,594 Y137F probably damaging Het
Vmn2r97 T C 17: 18,947,659 I725T probably benign Het
Vmn2r98 T A 17: 19,065,745 probably benign Het
Other mutations in Nsg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01646:Nsg1 APN 5 38155691 missense probably damaging 1.00
IGL02152:Nsg1 APN 5 38144801 missense probably benign 0.02
IGL02393:Nsg1 APN 5 38158911 missense probably damaging 1.00
IGL02994:Nsg1 APN 5 38155602 intron probably benign
R0089:Nsg1 UTSW 5 38155630 missense probably benign 0.45
R0102:Nsg1 UTSW 5 38158910 missense probably damaging 0.99
R0102:Nsg1 UTSW 5 38158910 missense probably damaging 0.99
R1443:Nsg1 UTSW 5 38155643 missense probably benign 0.00
R1611:Nsg1 UTSW 5 38138716 nonsense probably null
R4825:Nsg1 UTSW 5 38159047 unclassified probably benign
Posted On2013-04-17