Incidental Mutation 'IGL01447:Spcs2'
ID 84476
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spcs2
Ensembl Gene ENSMUSG00000035227
Gene Name signal peptidase complex subunit 2 homolog (S. cerevisiae)
Synonyms 5730406I15Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # IGL01447
Quality Score
Status
Chromosome 7
Chromosomal Location 99486775-99512576 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99488911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 251 (I251T)
Ref Sequence ENSEMBL: ENSMUSP00000147025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036274] [ENSMUST00000207063] [ENSMUST00000207137] [ENSMUST00000207406] [ENSMUST00000207580] [ENSMUST00000208465] [ENSMUST00000208477] [ENSMUST00000209032]
AlphaFold Q9CYN2
Predicted Effect probably benign
Transcript: ENSMUST00000036274
AA Change: I225T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041152
Gene: ENSMUSG00000035227
AA Change: I225T

DomainStartEndE-ValueType
low complexity region 2 34 N/A INTRINSIC
Pfam:SPC25 55 217 2.4e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207063
AA Change: I189T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000207137
AA Change: I122T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000207406
Predicted Effect probably benign
Transcript: ENSMUST00000207580
AA Change: I122T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000208465
Predicted Effect probably benign
Transcript: ENSMUST00000208477
AA Change: I251T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000209032
AA Change: I259T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208939
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apbb1ip T G 2: 22,743,194 (GRCm39) I342S probably damaging Het
Armh4 A T 14: 50,005,923 (GRCm39) S591T probably damaging Het
Atp6v1e1 T C 6: 120,772,654 (GRCm39) probably benign Het
Brwd1 A T 16: 95,848,579 (GRCm39) C533* probably null Het
Cacna2d4 A G 6: 119,219,865 (GRCm39) S212G probably damaging Het
Ccn5 A G 2: 163,670,942 (GRCm39) R150G probably damaging Het
Cit T C 5: 116,011,902 (GRCm39) probably benign Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Cmklr1 T C 5: 113,752,282 (GRCm39) T240A probably benign Het
D630003M21Rik T C 2: 158,059,276 (GRCm39) D208G probably benign Het
Egr3 C A 14: 70,316,732 (GRCm39) P143Q probably damaging Het
Fbxw18 T A 9: 109,530,675 (GRCm39) S41C probably damaging Het
Focad T A 4: 88,244,465 (GRCm39) I815N unknown Het
Heatr5b T C 17: 79,137,026 (GRCm39) T165A probably benign Het
Iqub G T 6: 24,505,627 (GRCm39) L94I probably benign Het
Lrrc32 T C 7: 98,147,583 (GRCm39) L121P probably damaging Het
Mansc1 G A 6: 134,594,289 (GRCm39) L118F probably damaging Het
Mtor A G 4: 148,615,214 (GRCm39) H1693R possibly damaging Het
Muc5b A G 7: 141,416,831 (GRCm39) Q3259R probably benign Het
Nmnat2 A G 1: 152,988,189 (GRCm39) S273G possibly damaging Het
Npr2 T C 4: 43,640,554 (GRCm39) C336R possibly damaging Het
Or10al6 C T 17: 38,083,122 (GRCm39) L193F probably damaging Het
Or1f19 A G 16: 3,410,848 (GRCm39) N196S possibly damaging Het
Or1j11 A T 2: 36,311,466 (GRCm39) I19F probably damaging Het
Or56b1b A G 7: 108,164,216 (GRCm39) V262A possibly damaging Het
Or5aq1 A T 2: 86,966,343 (GRCm39) Y107* probably null Het
Or5d36 T C 2: 87,901,468 (GRCm39) N86S possibly damaging Het
Rad54l2 C T 9: 106,579,971 (GRCm39) A967T probably damaging Het
Rspo1 T C 4: 124,898,829 (GRCm39) V50A possibly damaging Het
Sar1b C T 11: 51,682,274 (GRCm39) probably benign Het
Scamp1 C T 13: 94,340,530 (GRCm39) A280T probably damaging Het
Sspo G T 6: 48,441,600 (GRCm39) probably null Het
Tpm2 T A 4: 43,518,251 (GRCm39) K251* probably null Het
Ttn A G 2: 76,571,250 (GRCm39) S26548P probably damaging Het
Ugcg T G 4: 59,213,865 (GRCm39) V149G possibly damaging Het
Unc79 T A 12: 103,045,177 (GRCm39) N784K probably damaging Het
Vit A G 17: 78,932,633 (GRCm39) D580G probably damaging Het
Vmn1r83 T C 7: 12,055,424 (GRCm39) K211R probably benign Het
Zbtb3 A G 19: 8,781,680 (GRCm39) Y431C probably damaging Het
Zfp608 T C 18: 55,032,083 (GRCm39) D619G possibly damaging Het
Other mutations in Spcs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02351:Spcs2 APN 7 99,498,241 (GRCm39) missense probably damaging 1.00
IGL02358:Spcs2 APN 7 99,498,241 (GRCm39) missense probably damaging 1.00
R2870:Spcs2 UTSW 7 99,488,968 (GRCm39) missense probably damaging 1.00
R2870:Spcs2 UTSW 7 99,488,968 (GRCm39) missense probably damaging 1.00
R4065:Spcs2 UTSW 7 99,494,012 (GRCm39) missense possibly damaging 0.75
R4751:Spcs2 UTSW 7 99,493,976 (GRCm39) splice site probably null
R4932:Spcs2 UTSW 7 99,508,038 (GRCm39) missense possibly damaging 0.90
R7826:Spcs2 UTSW 7 99,488,984 (GRCm39) missense probably damaging 1.00
R8949:Spcs2 UTSW 7 99,493,923 (GRCm39) missense probably benign 0.32
R9395:Spcs2 UTSW 7 99,488,924 (GRCm39) missense probably benign 0.01
Posted On 2013-11-11