Incidental Mutation 'IGL02646:Sec22b'
ID301955
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sec22b
Ensembl Gene ENSMUSG00000027879
Gene NameSEC22 homolog B, vesicle trafficking protein
Synonyms4930564D15Rik, ERS-24, Sec22l1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02646
Quality Score
Status
Chromosome3
Chromosomal Location97901190-97923276 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 97921245 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 208 (V208E)
Ref Sequence ENSEMBL: ENSMUSP00000029476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029476] [ENSMUST00000130778]
PDB Structure
Sec22b N-terminal domain [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029476
AA Change: V208E

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029476
Gene: ENSMUSG00000027879
AA Change: V208E

DomainStartEndE-ValueType
Longin 36 118 4.31e-33 SMART
Pfam:Synaptobrevin 131 215 1e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130778
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the SEC22 family of vesicle trafficking proteins. It seems to complex with SNARE and it is thought to play a role in the ER-Golgi protein trafficking. This protein has strong similarity to Mus musculus and Cricetulus griseus proteins.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous knockout has no effect on the development or function of lymphoid cells, nor on the process of antigen cross-presentation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik T A 4: 137,454,790 Y85* probably null Het
Abcg2 A G 6: 58,685,696 I508V probably benign Het
Adgrb2 T C 4: 130,019,282 probably null Het
Api5 T A 2: 94,429,839 H24L possibly damaging Het
Apoh T C 11: 108,412,142 V311A probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Brca2 G T 5: 150,560,790 V2994L possibly damaging Het
Brd1 A T 15: 88,700,877 V918D probably damaging Het
Calr3 T G 8: 72,443,460 D43A possibly damaging Het
Cdh16 T C 8: 104,622,105 probably null Het
Cep192 T C 18: 67,862,477 S2033P probably damaging Het
Dnah7a G A 1: 53,525,035 T1955M probably damaging Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Dync1i1 A G 6: 5,767,034 D86G probably benign Het
Eri2 T C 7: 119,786,108 D390G possibly damaging Het
Fank1 C T 7: 133,880,029 probably benign Het
Hoxb7 A T 11: 96,286,744 Y6F possibly damaging Het
Hspg2 A C 4: 137,551,848 S3081R possibly damaging Het
Kcnt1 T A 2: 25,900,880 probably benign Het
Kdelc2 A G 9: 53,384,251 D51G probably benign Het
Med13 A G 11: 86,283,386 I1762T probably benign Het
Mia2 A G 12: 59,108,836 D445G probably damaging Het
Olfr1099 T C 2: 86,959,353 Y35C probably damaging Het
Plcg2 A T 8: 117,603,883 I827F possibly damaging Het
Rnls C A 19: 33,138,284 probably benign Het
Scn1a A T 2: 66,299,618 probably null Het
Slc8a3 A T 12: 81,315,094 I317N probably damaging Het
Snx33 A G 9: 56,926,759 Y9H probably damaging Het
Stard9 C A 2: 120,698,992 T1910N probably damaging Het
Tas2r122 T A 6: 132,711,790 I47F probably damaging Het
Tedc1 T G 12: 113,157,301 L118V possibly damaging Het
Tln2 A T 9: 67,255,996 S1090T probably benign Het
Tpcn2 T C 7: 145,258,574 D511G probably benign Het
Usp21 T C 1: 171,283,095 probably benign Het
Vmn2r17 T A 5: 109,453,080 L748Q probably damaging Het
Zp2 T C 7: 120,135,341 D495G possibly damaging Het
Other mutations in Sec22b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0335:Sec22b UTSW 3 97921256 missense possibly damaging 0.55
R0691:Sec22b UTSW 3 97912674 missense probably damaging 1.00
R4668:Sec22b UTSW 3 97921122 missense probably damaging 0.99
R4990:Sec22b UTSW 3 97921111 splice site probably null
R5776:Sec22b UTSW 3 97914568 missense probably damaging 1.00
R6655:Sec22b UTSW 3 97914648 critical splice donor site probably null
R7557:Sec22b UTSW 3 97901358 missense probably damaging 1.00
Posted On2015-04-16