Incidental Mutation 'IGL02393:Nsg1'
ID 293888
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nsg1
Ensembl Gene ENSMUSG00000029126
Gene Name neuron specific gene family member 1
Synonyms m234, p21, NEEP21
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02393
Quality Score
Status
Chromosome 5
Chromosomal Location 38294537-38317087 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38316255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 32 (D32G)
Ref Sequence ENSEMBL: ENSMUSP00000143921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031009] [ENSMUST00000201134] [ENSMUST00000201341] [ENSMUST00000201363] [ENSMUST00000201415]
AlphaFold Q62092
Predicted Effect probably damaging
Transcript: ENSMUST00000031009
AA Change: D32G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000031009
Gene: ENSMUSG00000029126
AA Change: D32G

DomainStartEndE-ValueType
Pfam:Calcyon 1 180 1.2e-88 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000201134
AA Change: D32G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000201341
AA Change: D32G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000144641
Gene: ENSMUSG00000029126
AA Change: D32G

DomainStartEndE-ValueType
Pfam:Calcyon 1 117 5.4e-56 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000201363
AA Change: D32G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000144396
Gene: ENSMUSG00000029126
AA Change: D32G

DomainStartEndE-ValueType
Pfam:Calcyon 1 180 1.2e-88 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000201415
AA Change: D32G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143921
Gene: ENSMUSG00000029126
AA Change: D32G

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 25,410,069 (GRCm39) Y129N probably damaging Het
Afap1l2 T C 19: 56,902,872 (GRCm39) K695R probably damaging Het
Arhgap18 T G 10: 26,753,179 (GRCm39) S357R probably benign Het
Camsap1 T C 2: 25,828,334 (GRCm39) H1130R probably benign Het
Cdkl4 A G 17: 80,867,844 (GRCm39) F35L probably damaging Het
Crnn A G 3: 93,056,675 (GRCm39) H487R probably damaging Het
Dcaf4 C T 12: 83,576,805 (GRCm39) P95L probably damaging Het
Deaf1 A T 7: 140,893,246 (GRCm39) V382E possibly damaging Het
Dph7 T G 2: 24,856,609 (GRCm39) V187G possibly damaging Het
Fat3 G T 9: 15,899,708 (GRCm39) C3108* probably null Het
Ggt5 T C 10: 75,446,071 (GRCm39) probably benign Het
Kif26a G A 12: 112,139,098 (GRCm39) V396M probably damaging Het
Med17 G A 9: 15,188,963 (GRCm39) R101* probably null Het
Mterf4 C T 1: 93,230,601 (GRCm39) V182I possibly damaging Het
Or5k8 A G 16: 58,644,409 (GRCm39) I221T probably damaging Het
Or6c3 T C 10: 129,309,064 (GRCm39) S168P probably damaging Het
Or6c65 T A 10: 129,603,662 (GRCm39) V99E probably benign Het
P3h2 T C 16: 25,811,575 (GRCm39) Y216C probably damaging Het
Pdzd9 A C 7: 120,262,206 (GRCm39) Y85* probably null Het
Prkdc T A 16: 15,634,622 (GRCm39) V3589D probably benign Het
Qars1 A G 9: 108,391,528 (GRCm39) T26A probably benign Het
Relch A G 1: 105,615,093 (GRCm39) I253M probably damaging Het
Rhd T C 4: 134,611,406 (GRCm39) S189P probably benign Het
Rhobtb1 A T 10: 69,124,817 (GRCm39) H555L probably damaging Het
Rogdi G A 16: 4,827,088 (GRCm39) S306F probably benign Het
Slc25a25 C T 2: 32,307,855 (GRCm39) V259I probably benign Het
Srrm1 A T 4: 135,048,725 (GRCm39) probably benign Het
Stkld1 T C 2: 26,840,154 (GRCm39) V408A probably benign Het
Thbs1 T C 2: 117,953,580 (GRCm39) V999A possibly damaging Het
Tmprss11d T A 5: 86,451,471 (GRCm39) *280L probably null Het
Trim54 A G 5: 31,289,324 (GRCm39) probably benign Het
Tspear G A 10: 77,672,407 (GRCm39) R202H probably damaging Het
Vwa8 G A 14: 79,420,417 (GRCm39) G1706D probably damaging Het
Other mutations in Nsg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00897:Nsg1 APN 5 38,302,060 (GRCm39) missense probably damaging 0.99
IGL01646:Nsg1 APN 5 38,313,035 (GRCm39) missense probably damaging 1.00
IGL02152:Nsg1 APN 5 38,302,145 (GRCm39) missense probably benign 0.02
IGL02994:Nsg1 APN 5 38,312,946 (GRCm39) intron probably benign
R0089:Nsg1 UTSW 5 38,312,974 (GRCm39) missense probably benign 0.45
R0102:Nsg1 UTSW 5 38,316,254 (GRCm39) missense probably damaging 0.99
R0102:Nsg1 UTSW 5 38,316,254 (GRCm39) missense probably damaging 0.99
R1443:Nsg1 UTSW 5 38,312,987 (GRCm39) missense probably benign 0.00
R1611:Nsg1 UTSW 5 38,296,060 (GRCm39) nonsense probably null
R4825:Nsg1 UTSW 5 38,316,391 (GRCm39) unclassified probably benign
R9144:Nsg1 UTSW 5 38,302,088 (GRCm39) missense probably benign 0.30
Posted On 2015-04-16