Incidental Mutation 'D3080:Vsig10'
ID120
Institutional Source Beutler Lab
Gene Symbol Vsig10
Ensembl Gene ENSMUSG00000066894
Gene NameV-set and immunoglobulin domain containing 10
Synonyms
Accession Numbers

Genbank: NM_001033311; MGI: 2448533

Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #D3080 of strain grasshopper
Quality Score
Status Validated
Chromosome5
Chromosomal Location117319083-117355005 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 117343819 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 358 (A358V)
Ref Sequence ENSEMBL: ENSMUSP00000107598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086464] [ENSMUST00000111967]
Predicted Effect probably damaging
Transcript: ENSMUST00000086464
AA Change: A331V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083655
Gene: ENSMUSG00000066894
AA Change: A331V

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
IG 23 114 4.03e-8 SMART
IG 132 214 9.49e-5 SMART
Pfam:Ig_2 215 300 2.6e-2 PFAM
Pfam:Ig_3 216 284 3.5e-4 PFAM
IGc2 313 384 1.12e-6 SMART
transmembrane domain 403 425 N/A INTRINSIC
coiled coil region 446 481 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111967
AA Change: A358V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107598
Gene: ENSMUSG00000066894
AA Change: A358V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IG 50 141 4.03e-8 SMART
IG 159 241 9.49e-5 SMART
Blast:IG_like 248 327 2e-33 BLAST
IGc2 340 411 1.12e-6 SMART
transmembrane domain 430 452 N/A INTRINSIC
coiled coil region 473 508 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145052
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147182
SMART Domains Protein: ENSMUSP00000125808
Gene: ENSMUSG00000066894

DomainStartEndE-ValueType
Blast:IG_like 1 41 3e-14 BLAST
IGc2 54 125 1.12e-6 SMART
transmembrane domain 144 166 N/A INTRINSIC
coiled coil region 187 222 N/A INTRINSIC
Meta Mutation Damage Score 0.5388 question?
Coding Region Coverage
  • 1x: 88.9%
  • 3x: 76.7%
Validation Efficiency 82% (141/173)
Allele List at MGI

All alleles(11) : Gene trapped(11)

Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik C A 5: 87,971,987 P201Q possibly damaging Het
Bdp1 A T 13: 100,023,621 S2417R probably benign Het
Dscaml1 A T 9: 45,684,325 H783L probably benign Het
Fbxl5 A T 5: 43,758,366 M568K probably benign Het
Gab1 T A 8: 80,766,378 D710V probably damaging Homo
Gabrr2 T C 4: 33,084,466 F128S probably damaging Het
Gm8251 C A 1: 44,067,335 Het
Hyou1 T A 9: 44,384,477 V343E probably damaging Het
Nlrp4a A G 7: 26,444,341 T44A probably benign Het
Nsd3 C A 8: 25,713,545 T1362N possibly damaging Homo
Olfr523 G A 7: 140,176,362 V81M possibly damaging Het
Pcm1 T A 8: 41,275,939 N649K probably damaging Homo
Pde4dip T C 3: 97,766,830 K257E probably damaging Het
Pfpl G A 19: 12,428,832 R149Q probably damaging Homo
Pou2f2 G T 7: 25,097,133 probably benign Het
Rptn A G 3: 93,395,828 D156G possibly damaging Het
Sec31a T C 5: 100,363,832 D1107G probably damaging Het
Smyd3 A G 1: 179,086,422 Y239H probably damaging Het
Stoml3 T C 3: 53,497,994 F32S probably benign Het
Tnnc1 C A 14: 31,210,190 D62E probably damaging Homo
Other mutations in Vsig10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Vsig10 APN 5 117338414 missense probably benign 0.00
IGL00340:Vsig10 APN 5 117351587 missense probably benign 0.03
IGL01082:Vsig10 APN 5 117334905 missense probably benign 0.33
IGL01285:Vsig10 APN 5 117324889 missense probably benign 0.43
IGL01790:Vsig10 APN 5 117338314 missense probably damaging 1.00
IGL03004:Vsig10 APN 5 117325075 missense probably damaging 1.00
R0101:Vsig10 UTSW 5 117335069 critical splice donor site probably null
R0403:Vsig10 UTSW 5 117338461 missense probably benign 0.05
R0674:Vsig10 UTSW 5 117343846 missense probably damaging 1.00
R1437:Vsig10 UTSW 5 117351570 missense probably damaging 0.96
R1689:Vsig10 UTSW 5 117352760 missense probably benign 0.00
R1710:Vsig10 UTSW 5 117351654 missense probably benign
R1765:Vsig10 UTSW 5 117318815 unclassified probably benign
R4422:Vsig10 UTSW 5 117324921 missense probably benign 0.00
R4541:Vsig10 UTSW 5 117352816 utr 3 prime probably benign
R4909:Vsig10 UTSW 5 117338243 missense probably benign 0.31
R4999:Vsig10 UTSW 5 117343975 missense probably damaging 1.00
R5855:Vsig10 UTSW 5 117338270 missense probably damaging 1.00
R5866:Vsig10 UTSW 5 117352749 critical splice acceptor site probably null
R6214:Vsig10 UTSW 5 117343924 missense probably damaging 1.00
R6418:Vsig10 UTSW 5 117348296 missense probably benign 0.03
R6505:Vsig10 UTSW 5 117351759 missense possibly damaging 0.95
R6854:Vsig10 UTSW 5 117338407 missense probably benign 0.36
R7121:Vsig10 UTSW 5 117343902 missense probably damaging 1.00
R7596:Vsig10 UTSW 5 117334783 missense possibly damaging 0.46
R8066:Vsig10 UTSW 5 117351784 missense probably benign 0.00
R8335:Vsig10 UTSW 5 117348370 missense probably damaging 1.00
Nature of Mutation
DNA sequencing using the SOLiD technique identified a C to T transition at position 1250 of the Vsig10 transcript in exon 6 of 10 total exons. Multiple transcripts of the Vsig10 gene are displayed on Ensembl. The mutated nucleotide causes an alanine to valine substitution at amino acid 358 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Vsig10 gene encodes a 558 amino acid protein that belongs to the immunoglobin (Ig) family. Analysis using SMART reveals three Ig or Ig-like domains at amino acids 50-141, 159-241 and 340-411. A transmembrane domain occurs at 430-452.
 
The A358V change is predicted to be benign by the PolyPhen program.
Posted On2010-03-12