Incidental Mutation 'IGL02582:Sec22c'
ID299383
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sec22c
Ensembl Gene ENSMUSG00000061536
Gene NameSEC22 homolog C, vesicle trafficking protein
SynonymsSec22l3, 5930407I15Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #IGL02582
Quality Score
Status
Chromosome9
Chromosomal Location121680045-121705490 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121685564 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 153 (I153V)
Ref Sequence ENSEMBL: ENSMUSP00000149594 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078547] [ENSMUST00000111560] [ENSMUST00000139193] [ENSMUST00000215056]
Predicted Effect probably benign
Transcript: ENSMUST00000078547
AA Change: I224V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000077628
Gene: ENSMUSG00000061536
AA Change: I224V

DomainStartEndE-ValueType
Longin 36 118 1.87e-19 SMART
transmembrane domain 187 209 N/A INTRINSIC
transmembrane domain 224 243 N/A INTRINSIC
transmembrane domain 250 269 N/A INTRINSIC
transmembrane domain 273 290 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111560
AA Change: I224V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000107185
Gene: ENSMUSG00000061536
AA Change: I224V

DomainStartEndE-ValueType
Longin 36 118 1.87e-19 SMART
transmembrane domain 187 209 N/A INTRINSIC
transmembrane domain 224 243 N/A INTRINSIC
transmembrane domain 250 269 N/A INTRINSIC
transmembrane domain 273 290 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132733
Predicted Effect probably benign
Transcript: ENSMUST00000139193
SMART Domains Protein: ENSMUSP00000114270
Gene: ENSMUSG00000061536

DomainStartEndE-ValueType
SCOP:d1ifqa_ 4 60 5e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000215056
AA Change: I153V

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SEC22 family of vesicle trafficking proteins. The encoded protein is localized to the endoplasmic reticulum and may play a role in the early stages of ER-Golgi protein trafficking. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 T A 9: 53,594,745 I92F probably benign Het
Actr3b A G 5: 25,832,413 I208V probably benign Het
Car12 T C 9: 66,713,877 V10A probably benign Het
Ccdc171 C A 4: 83,743,018 R1122S probably damaging Het
Cep97 A G 16: 55,922,176 V136A probably damaging Het
Cilp2 G T 8: 69,881,286 Q1021K probably damaging Het
Col24a1 C A 3: 145,314,486 T206N probably damaging Het
Crebbp A T 16: 4,084,277 I2328K possibly damaging Het
Ctns A G 11: 73,196,652 F16S probably benign Het
Dbf4 T C 5: 8,403,172 K276E probably benign Het
Dnase2b T A 3: 146,589,085 Q118L probably benign Het
Elf1 T C 14: 79,536,379 L10P probably damaging Het
Exosc5 T C 7: 25,665,563 probably null Het
Fam163b C T 2: 27,113,558 C28Y probably damaging Het
Fam180a G T 6: 35,313,712 A112E possibly damaging Het
Fam3b A T 16: 97,471,191 Y89* probably null Het
Gcg C T 2: 62,478,578 W77* probably null Het
Gm17472 G A 6: 42,980,898 V34I possibly damaging Het
Klhl23 T A 2: 69,824,238 C151S probably damaging Het
Mdh1b T A 1: 63,719,597 I279F probably benign Het
Mfsd11 T A 11: 116,873,875 I375N probably damaging Het
Mroh2b T A 15: 4,908,515 I206N probably damaging Het
Myo1b T C 1: 51,781,974 E456G possibly damaging Het
Nat8 G A 6: 85,830,801 Q117* probably null Het
Nlrp4g A C 9: 124,349,764 noncoding transcript Het
Nmt1 G T 11: 103,064,799 G468C possibly damaging Het
Nobox G T 6: 43,305,039 Q367K possibly damaging Het
Nusap1 A G 2: 119,648,989 *428W probably null Het
Olfr1261 G A 2: 89,994,312 M306I probably benign Het
Olfr533 T C 7: 140,466,647 F149L probably benign Het
Pbp2 T C 6: 135,310,149 I67V probably benign Het
Pcdhb8 T G 18: 37,355,374 M35R possibly damaging Het
Pkp1 T C 1: 135,889,926 E157G probably damaging Het
Pomgnt1 C T 4: 116,158,550 L560F probably damaging Het
Prkcz T C 4: 155,271,256 T227A probably damaging Het
Ptprd T A 4: 75,947,124 R1446S probably damaging Het
Ptprq T C 10: 107,643,999 T1137A probably benign Het
Slc30a5 C T 13: 100,812,647 probably null Het
Smcr8 T C 11: 60,778,895 S290P probably benign Het
Stambpl1 T G 19: 34,235,212 L261V probably benign Het
Stk38l T C 6: 146,766,823 probably null Het
Themis T C 10: 28,761,547 F216L probably benign Het
Trmt1l T C 1: 151,433,785 probably benign Het
Usp17lb C A 7: 104,840,730 C330F probably damaging Het
Vmn2r120 A T 17: 57,524,724 L355H probably damaging Het
Zc3h7b T A 15: 81,769,140 C82S probably benign Het
Other mutations in Sec22c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02152:Sec22c APN 9 121684779 missense probably benign 0.00
IGL02563:Sec22c APN 9 121684650 utr 3 prime probably benign
IGL03333:Sec22c APN 9 121688218 missense probably damaging 1.00
R0071:Sec22c UTSW 9 121692913 missense probably damaging 1.00
R0071:Sec22c UTSW 9 121692913 missense probably damaging 1.00
R1972:Sec22c UTSW 9 121688254 missense possibly damaging 0.88
R4604:Sec22c UTSW 9 121695642 missense probably damaging 1.00
R5913:Sec22c UTSW 9 121690302 missense possibly damaging 0.85
Posted On2015-04-16