Incidental Mutation 'R8430:Sec22b'
ID 653692
Institutional Source Beutler Lab
Gene Symbol Sec22b
Ensembl Gene ENSMUSG00000027879
Gene Name SEC22 homolog B, vesicle trafficking protein
Synonyms 4930564D15Rik, ERS-24, Sec22l1
MMRRC Submission 067775-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8430 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 97808543-97829634 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97828546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 203 (F203S)
Ref Sequence ENSEMBL: ENSMUSP00000029476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029476] [ENSMUST00000130778]
AlphaFold O08547
PDB Structure Sec22b N-terminal domain [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000029476
AA Change: F203S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029476
Gene: ENSMUSG00000027879
AA Change: F203S

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,078,981 (GRCm39) T677I probably benign Het
Adh4 T G 3: 138,128,145 (GRCm39) N190K probably damaging Het
Ahnak2 A T 12: 112,741,121 (GRCm39) S984T possibly damaging Het
Aknad1 A G 3: 108,659,037 (GRCm39) D17G possibly damaging Het
Ankrd11 T C 8: 123,620,105 (GRCm39) N1249S probably benign Het
Ankrd31 A G 13: 96,988,199 (GRCm39) K1071E possibly damaging Het
Atp1a3 A G 7: 24,698,437 (GRCm39) L120P probably damaging Het
AU040320 C A 4: 126,742,693 (GRCm39) A986E possibly damaging Het
Camkv T C 9: 107,824,968 (GRCm39) M323T probably damaging Het
Cdh18 T G 15: 23,226,770 (GRCm39) L77R probably damaging Het
Col24a1 C T 3: 145,021,060 (GRCm39) T477M probably damaging Het
Cpeb3 A T 19: 37,002,406 (GRCm39) F669I probably damaging Het
Cramp1 A T 17: 25,196,536 (GRCm39) H859Q probably damaging Het
Csnk1g1 C A 9: 65,906,803 (GRCm39) T140K probably damaging Het
Ctnnbl1 A G 2: 157,678,603 (GRCm39) E402G probably damaging Het
Cyp20a1 T C 1: 60,402,488 (GRCm39) V191A possibly damaging Het
Dkk3 A G 7: 111,720,853 (GRCm39) Y158H probably damaging Het
Fgfr2 T C 7: 129,765,708 (GRCm39) N835S probably damaging Het
Fggy GCACCA GCA 4: 95,815,002 (GRCm39) probably benign Het
Gpatch1 G A 7: 35,007,634 (GRCm39) T142M probably damaging Het
Gtf3c2 G A 5: 31,330,403 (GRCm39) A189V probably damaging Het
Heatr5b T C 17: 79,137,053 (GRCm39) I156V probably damaging Het
Itpka T A 2: 119,580,035 (GRCm39) V258E probably damaging Het
Klhdc4 A G 8: 122,526,252 (GRCm39) S327P possibly damaging Het
L1td1 C T 4: 98,626,109 (GRCm39) T702I probably damaging Het
Lap3 A G 5: 45,654,726 (GRCm39) D110G probably benign Het
Mab21l1 C A 3: 55,690,830 (GRCm39) A139E probably damaging Het
Myo15b G A 11: 115,773,049 (GRCm39) V173M probably benign Het
Or12e1 T G 2: 87,022,564 (GRCm39) S178A possibly damaging Het
Or2a57 G A 6: 43,212,894 (GRCm39) M117I probably benign Het
Or52ab4 G T 7: 102,988,164 (GRCm39) R301L probably benign Het
Or5m10b A T 2: 85,699,526 (GRCm39) M197L probably benign Het
Rdh7 A G 10: 127,723,495 (GRCm39) I120T probably benign Het
Rsph3a G T 17: 8,171,403 (GRCm39) G173W probably damaging Het
Sulf2 C T 2: 165,916,736 (GRCm39) G867E probably benign Het
Tia1 A T 6: 86,395,906 (GRCm39) D90V probably benign Het
Tiam2 A G 17: 3,568,537 (GRCm39) D1561G probably benign Het
Trav9d-1 A G 14: 53,030,217 (GRCm39) Y107C probably damaging Het
Trim32 T C 4: 65,532,943 (GRCm39) V500A probably damaging Het
Ube2f G A 1: 91,181,989 (GRCm39) probably benign Het
Ulk4 C T 9: 121,086,144 (GRCm39) probably null Het
Zfp940 A G 7: 29,544,771 (GRCm39) F379L probably benign Het
Other mutations in Sec22b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02646:Sec22b APN 3 97,828,561 (GRCm39) missense possibly damaging 0.89
R0335:Sec22b UTSW 3 97,828,572 (GRCm39) missense possibly damaging 0.55
R0691:Sec22b UTSW 3 97,819,990 (GRCm39) missense probably damaging 1.00
R4668:Sec22b UTSW 3 97,828,438 (GRCm39) missense probably damaging 0.99
R4990:Sec22b UTSW 3 97,828,427 (GRCm39) splice site probably null
R5776:Sec22b UTSW 3 97,821,884 (GRCm39) missense probably damaging 1.00
R6655:Sec22b UTSW 3 97,821,964 (GRCm39) critical splice donor site probably null
R7557:Sec22b UTSW 3 97,808,674 (GRCm39) missense probably damaging 1.00
R9337:Sec22b UTSW 3 97,828,494 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- TTTTGACAAACCACTTCAGGTC -3'
(R):5'- GAGAGACTTCCACATGGGTC -3'

Sequencing Primer
(F):5'- ACAAACCACTTCAGGTCTAATTAATG -3'
(R):5'- CATGGGTCAAGCTTCCTTAAACGAG -3'
Posted On 2020-10-20