Incidental Mutation 'IGL03333:Sec22c'
ID 416940
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 # IGL03333
Quality Score
Status
Chromosome 9
Chromosomal Location 121509111-121534556 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121517284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 138 (L138P)
Ref Sequence ENSEMBL: ENSMUSP00000149594 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078547] [ENSMUST00000111560] [ENSMUST00000139193] [ENSMUST00000215056]
AlphaFold Q8BXT9
Predicted Effect probably damaging
Transcript: ENSMUST00000078547
AA Change: L209P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077628
Gene: ENSMUSG00000061536
AA Change: L209P

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 damaging
Transcript: ENSMUST00000111560
AA Change: L209P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107185
Gene: ENSMUSG00000061536
AA Change: L209P

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 damaging
Transcript: ENSMUST00000215056
AA Change: L138P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap39 T C 15: 76,610,932 (GRCm39) M893V probably benign Het
Ccdc185 C A 1: 182,576,398 (GRCm39) G97V probably damaging Het
Cep170 T C 1: 176,597,092 (GRCm39) T422A possibly damaging Het
Ckap2l A C 2: 129,138,228 (GRCm39) probably null Het
Cpa3 A G 3: 20,269,992 (GRCm39) Y411H possibly damaging Het
Dnah2 C A 11: 69,385,949 (GRCm39) R1011L probably damaging Het
Efnb2 T A 8: 8,689,275 (GRCm39) K30* probably null Het
Ep400 C T 5: 110,851,432 (GRCm39) R1350H unknown Het
Epha6 T C 16: 59,503,051 (GRCm39) D952G probably damaging Het
Exoc7 C A 11: 116,191,987 (GRCm39) V195L probably benign Het
Fbxw8 T C 5: 118,233,660 (GRCm39) M324V possibly damaging Het
Fchsd2 T C 7: 100,847,703 (GRCm39) S198P probably damaging Het
Gcdh T C 8: 85,617,700 (GRCm39) T202A probably benign Het
Gm6619 G A 6: 131,467,471 (GRCm39) probably benign Het
Itpr1 A T 6: 108,357,871 (GRCm39) probably benign Het
Kif2c A C 4: 117,037,833 (GRCm39) V31G possibly damaging Het
Kpna7 T C 5: 144,942,765 (GRCm39) I74V possibly damaging Het
Lvrn G A 18: 46,997,731 (GRCm39) probably benign Het
Man2b2 T A 5: 36,973,483 (GRCm39) I499F probably damaging Het
Mmd2 G T 5: 142,553,693 (GRCm39) probably benign Het
Or11h7 C T 14: 50,890,855 (GRCm39) Q54* probably null Het
Or2r11 T C 6: 42,437,773 (GRCm39) Y60C probably damaging Het
Or6b1 T A 6: 42,815,637 (GRCm39) I274N possibly damaging Het
Or8g2b T A 9: 39,751,308 (GRCm39) Y193N probably damaging Het
Parp14 A G 16: 35,661,800 (GRCm39) S1412P probably benign Het
Prr30 A T 14: 101,435,827 (GRCm39) V245E possibly damaging Het
Ros1 T A 10: 52,031,267 (GRCm39) D458V probably damaging Het
Sema6d C A 2: 124,506,290 (GRCm39) H699Q possibly damaging Het
Spata17 A T 1: 186,872,667 (GRCm39) M1K probably null Het
Tpr T A 1: 150,302,718 (GRCm39) D1331E probably benign Het
Ttc4 A G 4: 106,533,828 (GRCm39) Y120H probably benign Het
Tubgcp4 A G 2: 121,026,654 (GRCm39) probably null Het
Usp19 T A 9: 108,371,348 (GRCm39) M285K probably benign Het
Vmn1r222 A T 13: 23,417,177 (GRCm39) F12Y probably benign Het
Vmn2r72 T C 7: 85,400,075 (GRCm39) K325E probably benign Het
Vps33b T C 7: 79,923,973 (GRCm39) probably benign Het
Zfp784 C T 7: 5,039,351 (GRCm39) 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
IGL02582:Sec22c APN 9 121,514,630 (GRCm39) missense probably benign 0.07
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 2016-08-02