Incidental Mutation 'IGL01646:Nsg1'
ID102666
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 #IGL01646
Quality Score
Status
Chromosome5
Chromosomal Location38137192-38159907 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 38155691 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 55 (D55Y)
Ref Sequence ENSEMBL: ENSMUSP00000144641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031009] [ENSMUST00000201134] [ENSMUST00000201341] [ENSMUST00000201363] [ENSMUST00000201415]
Predicted Effect probably damaging
Transcript: ENSMUST00000031009
AA Change: D55Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000031009
Gene: ENSMUSG00000029126
AA Change: D55Y

DomainStartEndE-ValueType
Pfam:Calcyon 1 180 1.2e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201134
Predicted Effect probably damaging
Transcript: ENSMUST00000201341
AA Change: D55Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144641
Gene: ENSMUSG00000029126
AA Change: D55Y

DomainStartEndE-ValueType
Pfam:Calcyon 1 117 5.4e-56 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000201363
AA Change: D55Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000144396
Gene: ENSMUSG00000029126
AA Change: D55Y

DomainStartEndE-ValueType
Pfam:Calcyon 1 180 1.2e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201415
SMART Domains Protein: ENSMUSP00000143921
Gene: ENSMUSG00000029126

DomainStartEndE-ValueType
Pfam:Calcyon 1 47 7.5e-19 PFAM
Pfam:Calcyon 43 141 1e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202831
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011I03Rik T A 18: 57,667,345 C171* probably null Het
Ambp C T 4: 63,148,740 V188I probably benign Het
Bbs9 G T 9: 22,670,925 E638* probably null Het
Bmp6 A G 13: 38,498,928 M465V probably damaging Het
Cemip T C 7: 83,983,232 E374G possibly damaging Het
Cnbd1 A T 4: 18,895,141 Y200* probably null Het
Cox6b1 G T 7: 30,624,504 Y34* probably null Het
Cyp2d26 A C 15: 82,791,418 I303M probably benign Het
Diaph1 T A 18: 37,893,416 probably null Het
Dmp1 T C 5: 104,211,865 S136P probably damaging Het
Dpy19l1 C T 9: 24,485,069 R117Q probably damaging Het
Eea1 A G 10: 95,997,015 T241A probably damaging Het
Erap1 C A 13: 74,666,172 T25K probably damaging Het
Fras1 A G 5: 96,758,148 E3137G probably benign Het
Fryl C T 5: 73,022,501 probably null Het
Gldc T G 19: 30,100,765 D944A possibly damaging Het
Grm5 A G 7: 88,040,059 Y546C probably damaging Het
Igkv1-122 G A 6: 68,016,744 M1I probably null Het
Jag2 G A 12: 112,916,349 P380S possibly damaging Het
Kcnc2 T C 10: 112,272,406 probably null Het
Kmt2a T C 9: 44,825,484 probably benign Het
Lrrc55 A G 2: 85,191,989 V286A probably damaging Het
Mllt10 C A 2: 18,122,317 H82N probably damaging Het
Myh11 C A 16: 14,221,775 R837L probably damaging Het
Nup107 C A 10: 117,781,342 R221M probably damaging Het
Nup153 G T 13: 46,684,107 A1213D possibly damaging Het
Ovgp1 G A 3: 105,978,349 G174S probably damaging Het
Papss2 C T 19: 32,652,082 A357V probably benign Het
Pclo A G 5: 14,713,867 K4118R unknown Het
Pde2a T C 7: 101,507,711 I628T possibly damaging Het
Pla2r1 A G 2: 60,495,364 W521R probably damaging Het
Pld1 A T 3: 28,099,664 Q744L probably damaging Het
Pnpo T A 11: 96,938,949 E251V possibly damaging Het
Rdh10 C T 1: 16,108,022 H173Y possibly damaging Het
Sgpp2 A T 1: 78,416,896 I179F probably damaging Het
Slc11a1 C T 1: 74,384,740 P409L probably damaging Het
Slc35b4 T A 6: 34,158,429 N316I probably benign Het
Snrnp200 A G 2: 127,222,228 I712V probably benign Het
Spr T C 6: 85,134,240 D216G possibly damaging Het
Sri G A 5: 8,063,755 probably null Het
Tas2r124 T C 6: 132,755,369 S214P probably damaging Het
Tg T A 15: 66,678,087 S233T probably damaging Het
Tgfbr3 A T 5: 107,121,413 probably benign Het
Vmn2r45 A G 7: 8,483,338 F317S probably benign Het
Vmn2r99 C A 17: 19,393,658 probably benign Het
Zfp957 T C 14: 79,213,891 E156G probably benign Het
Other mutations in Nsg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00897:Nsg1 APN 5 38144716 missense probably damaging 0.99
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 On2014-01-21