Incidental Mutation 'IGL02886:Svip'
ID 363018
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Svip
Ensembl Gene ENSMUSG00000074093
Gene Name small VCP/p97-interacting protein
Synonyms 6620401M08Rik, 1700006C13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.189) question?
Stock # IGL02886
Quality Score
Status
Chromosome 7
Chromosomal Location 51646919-51655766 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51655509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 11 (S11P)
Ref Sequence ENSEMBL: ENSMUSP00000096014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098414] [ENSMUST00000209193]
AlphaFold Q3UZP4
Predicted Effect possibly damaging
Transcript: ENSMUST00000098414
AA Change: S11P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000096014
Gene: ENSMUSG00000074093
AA Change: S11P

DomainStartEndE-ValueType
Pfam:SVIP 1 73 1.5e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207457
Predicted Effect probably benign
Transcript: ENSMUST00000209193
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Endoplasmic reticulum-associated degradation (ERAD) is the pathway by which misfolded proteins in the endoplasmic reticulum are targeted to the proteasome for degradation. Multiple specialized proteins interact with one another during ERAD to complete this process. The protein encoded by this gene is an inhibitor of ERAD, functioning to disrupt the interaction of these protein components. This downregulation of ERAD may be needed to protect the cell from overactive protein degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,921,863 (GRCm39) C1140S probably damaging Het
Abhd12b T C 12: 70,229,740 (GRCm39) I238T possibly damaging Het
Adgrb3 T C 1: 25,543,991 (GRCm39) probably null Het
Baz2b A T 2: 59,788,087 (GRCm39) probably null Het
Brwd3 T C X: 107,794,454 (GRCm39) Y1410C probably damaging Het
Casp7 T A 19: 56,421,775 (GRCm39) I71N probably damaging Het
Cspg4 A T 9: 56,804,672 (GRCm39) I1828F probably damaging Het
Cul2 T C 18: 3,426,920 (GRCm39) probably benign Het
Efcab3 A G 11: 104,986,700 (GRCm39) D5409G possibly damaging Het
Fam187a A T 11: 102,777,380 (GRCm39) T395S probably benign Het
Fcgr2b A G 1: 170,793,297 (GRCm39) V244A possibly damaging Het
Fubp1 A G 3: 151,926,392 (GRCm39) E333G possibly damaging Het
Ganab G T 19: 8,888,391 (GRCm39) probably benign Het
Hpdl A G 4: 116,677,952 (GRCm39) S170P probably benign Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Klhl11 T C 11: 100,363,047 (GRCm39) S170G possibly damaging Het
Lrrc56 A G 7: 140,777,090 (GRCm39) probably benign Het
Lrrd1 T C 5: 3,901,534 (GRCm39) V613A probably benign Het
Myo1e T C 9: 70,276,055 (GRCm39) F757L probably benign Het
Myo5a T A 9: 75,059,169 (GRCm39) probably benign Het
Myocd T A 11: 65,069,569 (GRCm39) D837V probably damaging Het
Naip6 T C 13: 100,436,984 (GRCm39) Q513R possibly damaging Het
Nol4l A G 2: 153,371,457 (GRCm39) F76L probably benign Het
Or10ak7 T C 4: 118,792,027 (GRCm39) E6G probably benign Het
Or2b2b T A 13: 21,859,122 (GRCm39) probably benign Het
Or5b98 T A 19: 12,931,882 (GRCm39) S310T probably benign Het
Pck1 G A 2: 172,996,649 (GRCm39) E188K probably benign Het
Pdcd11 T C 19: 47,102,064 (GRCm39) V1083A possibly damaging Het
Primpol G A 8: 47,046,619 (GRCm39) Q226* probably null Het
Rbm15 A C 3: 107,233,611 (GRCm39) V959G probably benign Het
Rorb A G 19: 18,954,943 (GRCm39) probably null Het
Spata9 T C 13: 76,125,853 (GRCm39) L112P probably damaging Het
Stk24 A T 14: 121,529,527 (GRCm39) L375Q probably null Het
Taf13 T C 3: 108,488,500 (GRCm39) probably benign Het
Tex30 T C 1: 44,127,683 (GRCm39) Y7C probably damaging Het
Tmem68 T C 4: 3,569,361 (GRCm39) probably benign Het
Tnc T C 4: 63,918,344 (GRCm39) E1189G probably damaging Het
Top2b T C 14: 16,365,688 (GRCm38) S4P possibly damaging Het
Trav3-3 C A 14: 53,903,822 (GRCm39) L47I probably benign Het
Ttn G A 2: 76,733,557 (GRCm39) probably benign Het
Uroc1 A G 6: 90,323,811 (GRCm39) probably benign Het
Other mutations in Svip
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6127:Svip UTSW 7 51,653,201 (GRCm39) missense probably benign
R7181:Svip UTSW 7 51,653,177 (GRCm39) missense possibly damaging 0.86
R7941:Svip UTSW 7 51,653,161 (GRCm39) missense probably benign
Posted On 2015-12-18