Incidental Mutation 'R5776:Sec22b'
ID 446685
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 043375-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5776 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 97808543-97829634 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 97821884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 139 (N139Y)
Ref Sequence ENSEMBL: ENSMUSP00000029476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029476] [ENSMUST00000122288] [ENSMUST00000130778]
AlphaFold O08547
PDB Structure Sec22b N-terminal domain [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000029476
AA Change: N139Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029476
Gene: ENSMUSG00000027879
AA Change: N139Y

DomainStartEndE-ValueType
Longin 36 118 4.31e-33 SMART
Pfam:Synaptobrevin 131 215 1e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000122288
AA Change: N139Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113502
Gene: ENSMUSG00000027879
AA Change: N139Y

DomainStartEndE-ValueType
Longin 36 118 4.31e-33 SMART
Pfam:Synaptobrevin 131 166 3.3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130778
Meta Mutation Damage Score 0.2377 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 98% (64/65)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,107,649 (GRCm39) M378K possibly damaging Het
Abca17 A G 17: 24,514,132 (GRCm39) V857A probably benign Het
Abca9 C T 11: 109,998,286 (GRCm39) probably null Het
Adam22 T C 5: 8,177,361 (GRCm39) K583E probably benign Het
Akr1c13 T C 13: 4,244,186 (GRCm39) F80L probably damaging Het
Apob A T 12: 8,056,149 (GRCm39) I1511F possibly damaging Het
Ccdc168 T C 1: 44,095,665 (GRCm39) E1811G possibly damaging Het
Cfh C A 1: 140,071,761 (GRCm39) R291I possibly damaging Het
Col1a1 C T 11: 94,840,550 (GRCm39) S1114F unknown Het
Ctsj T C 13: 61,150,956 (GRCm39) D168G probably damaging Het
Erf T C 7: 24,945,534 (GRCm39) D79G probably damaging Het
Extl1 T C 4: 134,085,083 (GRCm39) N629S possibly damaging Het
Fbxo9 T C 9: 78,002,469 (GRCm39) E204G probably damaging Het
Fdx2 C A 9: 20,984,778 (GRCm39) V9L possibly damaging Het
Gfer G T 17: 24,915,027 (GRCm39) S5R probably benign Het
Gm15931 A T 7: 4,284,564 (GRCm39) noncoding transcript Het
Gm6309 T A 5: 146,105,691 (GRCm39) I158F possibly damaging Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Hacl1 A T 14: 31,344,828 (GRCm39) N234K possibly damaging Het
Hcn3 C T 3: 89,055,412 (GRCm39) A612T probably benign Het
Hectd1 T A 12: 51,810,897 (GRCm39) E1679D possibly damaging Het
Hipk4 T C 7: 27,228,405 (GRCm39) L285P probably damaging Het
Igsf3 G A 3: 101,332,796 (GRCm39) V25I probably benign Het
Jade1 A G 3: 41,568,227 (GRCm39) H765R probably benign Het
Kcnv1 T C 15: 44,977,963 (GRCm39) D25G unknown Het
Klhl3 A G 13: 58,152,998 (GRCm39) S586P probably benign Het
L3mbtl2 A G 15: 81,569,072 (GRCm39) D582G probably damaging Het
Matn2 G A 15: 34,431,765 (GRCm39) C835Y probably damaging Het
Naa15 A C 3: 51,367,447 (GRCm39) D490A probably damaging Het
Nab2 T A 10: 127,500,198 (GRCm39) Y298F probably damaging Het
Nipsnap1 T A 11: 4,838,919 (GRCm39) M115K probably benign Het
Nlrp5-ps T C 7: 14,326,649 (GRCm39) noncoding transcript Het
Nol4l T G 2: 153,259,741 (GRCm39) Q211P probably damaging Het
Oga T C 19: 45,760,363 (GRCm39) E265G probably damaging Het
Or52z15 T A 7: 103,332,246 (GRCm39) M97K probably damaging Het
Or6k14 A T 1: 173,927,339 (GRCm39) H105L probably damaging Het
Pkhd1 T C 1: 20,279,409 (GRCm39) K2970E possibly damaging Het
Plin4 T C 17: 56,411,983 (GRCm39) T683A probably damaging Het
Ppm1g T C 5: 31,362,454 (GRCm39) D282G probably benign Het
Ppp6r3 A G 19: 3,576,901 (GRCm39) S10P possibly damaging Het
Raph1 G A 1: 60,529,315 (GRCm39) probably benign Het
Rc3h2 A G 2: 37,268,325 (GRCm39) V935A possibly damaging Het
Reg4 T A 3: 98,140,344 (GRCm39) D108E possibly damaging Het
Saraf T A 8: 34,632,604 (GRCm39) Y228N probably damaging Het
Sctr T C 1: 119,984,137 (GRCm39) S357P probably damaging Het
Sgsm1 T A 5: 113,398,823 (GRCm39) I1037F probably damaging Het
Skint5 A C 4: 113,620,700 (GRCm39) S671R unknown Het
Slc38a3 C A 9: 107,535,948 (GRCm39) E62* probably null Het
Slfn14 C T 11: 83,174,425 (GRCm39) E189K probably damaging Het
Sox21 A G 14: 118,472,656 (GRCm39) L131P probably damaging Het
Stip1 A G 19: 6,999,393 (GRCm39) probably null Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Susd1 T C 4: 59,315,363 (GRCm39) probably benign Het
Tdrd7 T A 4: 46,005,689 (GRCm39) D498E probably benign Het
Tln2 C T 9: 67,165,532 (GRCm39) E1053K probably damaging Het
Trav6-4 A G 14: 53,692,211 (GRCm39) D103G probably damaging Het
Txndc15 A G 13: 55,865,920 (GRCm39) E128G probably benign Het
Vmn2r22 A T 6: 123,614,673 (GRCm39) W306R probably damaging Het
Yjefn3 A T 8: 70,342,121 (GRCm39) L33Q probably damaging Het
Zfp641 T C 15: 98,186,891 (GRCm39) D244G probably damaging 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
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
R8430:Sec22b UTSW 3 97,828,546 (GRCm39) missense probably benign 0.00
R9337:Sec22b UTSW 3 97,828,494 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- AGGGACAGTTCTCCTGAATGG -3'
(R):5'- CCAGGAGCTTTGCTGTGTAAC -3'

Sequencing Primer
(F):5'- GGACAGTTCTCCTGAATGGTCATC -3'
(R):5'- CCAGGAGCTTTGCTGTGTAACTAATC -3'
Posted On 2016-12-15