Incidental Mutation 'IGL02582:Sec22c'
ID 299383
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sec22c
Ensembl Gene ENSMUSG00000061536
Gene Name SEC22 homolog C, vesicle trafficking protein
Synonyms 5930407I15Rik, Sec22l3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL02582
Quality Score
Status
Chromosome 9
Chromosomal Location 121509111-121534556 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121514630 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BXT9
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: 53,506,045 (GRCm39) I92F probably benign Het
Actr3b A G 5: 26,037,411 (GRCm39) I208V probably benign Het
Car12 T C 9: 66,621,159 (GRCm39) V10A probably benign Het
Ccdc171 C A 4: 83,661,255 (GRCm39) R1122S probably damaging Het
Cep97 A G 16: 55,742,539 (GRCm39) V136A probably damaging Het
Cilp2 G T 8: 70,333,936 (GRCm39) Q1021K probably damaging Het
Col24a1 C A 3: 145,020,247 (GRCm39) T206N probably damaging Het
Crebbp A T 16: 3,902,141 (GRCm39) I2328K possibly damaging Het
Ctns A G 11: 73,087,478 (GRCm39) F16S probably benign Het
Dbf4 T C 5: 8,453,172 (GRCm39) K276E probably benign Het
Dnase2b T A 3: 146,294,840 (GRCm39) Q118L probably benign Het
Elf1 T C 14: 79,773,819 (GRCm39) L10P probably damaging Het
Exosc5 T C 7: 25,364,988 (GRCm39) probably null Het
Fam163b C T 2: 27,003,570 (GRCm39) C28Y probably damaging Het
Fam180a G T 6: 35,290,647 (GRCm39) A112E possibly damaging Het
Fam3b A T 16: 97,272,391 (GRCm39) Y89* probably null Het
Gcg C T 2: 62,308,922 (GRCm39) W77* probably null Het
Gm17472 G A 6: 42,957,832 (GRCm39) V34I possibly damaging Het
Klhl23 T A 2: 69,654,582 (GRCm39) C151S probably damaging Het
Mdh1b T A 1: 63,758,756 (GRCm39) I279F probably benign Het
Mfsd11 T A 11: 116,764,701 (GRCm39) I375N probably damaging Het
Mroh2b T A 15: 4,937,997 (GRCm39) I206N probably damaging Het
Myo1b T C 1: 51,821,133 (GRCm39) E456G possibly damaging Het
Nat8 G A 6: 85,807,783 (GRCm39) Q117* probably null Het
Nlrp4g A C 9: 124,349,764 (GRCm38) noncoding transcript Het
Nmt1 G T 11: 102,955,625 (GRCm39) G468C possibly damaging Het
Nobox G T 6: 43,281,973 (GRCm39) Q367K possibly damaging Het
Nusap1 A G 2: 119,479,470 (GRCm39) *428W probably null Het
Or12j4 T C 7: 140,046,560 (GRCm39) F149L probably benign Het
Or4c126 G A 2: 89,824,656 (GRCm39) M306I probably benign Het
Pbp2 T C 6: 135,287,147 (GRCm39) I67V probably benign Het
Pcdhb8 T G 18: 37,488,427 (GRCm39) M35R possibly damaging Het
Pkp1 T C 1: 135,817,664 (GRCm39) E157G probably damaging Het
Pomgnt1 C T 4: 116,015,747 (GRCm39) L560F probably damaging Het
Prkcz T C 4: 155,355,713 (GRCm39) T227A probably damaging Het
Ptprd T A 4: 75,865,361 (GRCm39) R1446S probably damaging Het
Ptprq T C 10: 107,479,860 (GRCm39) T1137A probably benign Het
Slc30a5 C T 13: 100,949,155 (GRCm39) probably null Het
Smcr8 T C 11: 60,669,721 (GRCm39) S290P probably benign Het
Stambpl1 T G 19: 34,212,612 (GRCm39) L261V probably benign Het
Stk38l T C 6: 146,668,321 (GRCm39) probably null Het
Themis T C 10: 28,637,543 (GRCm39) F216L probably benign Het
Trmt1l T C 1: 151,309,536 (GRCm39) probably benign Het
Usp17lb C A 7: 104,489,937 (GRCm39) C330F probably damaging Het
Vmn2r120 A T 17: 57,831,724 (GRCm39) L355H probably damaging Het
Zc3h7b T A 15: 81,653,341 (GRCm39) C82S probably benign Het
Other mutations in Sec22c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02152:Sec22c APN 9 121,513,845 (GRCm39) missense probably benign 0.00
IGL02563:Sec22c APN 9 121,513,716 (GRCm39) utr 3 prime probably benign
IGL03333:Sec22c APN 9 121,517,284 (GRCm39) missense probably damaging 1.00
R0071:Sec22c UTSW 9 121,521,979 (GRCm39) missense probably damaging 1.00
R0071:Sec22c UTSW 9 121,521,979 (GRCm39) missense probably damaging 1.00
R1972:Sec22c UTSW 9 121,517,320 (GRCm39) missense possibly damaging 0.88
R4604:Sec22c UTSW 9 121,524,708 (GRCm39) missense probably damaging 1.00
R5913:Sec22c UTSW 9 121,519,368 (GRCm39) missense possibly damaging 0.85
R8354:Sec22c UTSW 9 121,524,721 (GRCm39) missense probably damaging 1.00
R8454:Sec22c UTSW 9 121,524,721 (GRCm39) missense probably damaging 1.00
R8832:Sec22c UTSW 9 121,514,638 (GRCm39) missense probably benign 0.33
R9149:Sec22c UTSW 9 121,524,750 (GRCm39) missense probably damaging 1.00
R9293:Sec22c UTSW 9 121,517,314 (GRCm39) missense probably damaging 0.98
R9529:Sec22c UTSW 9 121,513,860 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16