Incidental Mutation 'R0691:Sec22b'
ID 63955
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 038876-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0691 (G1)
Quality Score 120
Status Validated
Chromosome 3
Chromosomal Location 97808543-97829634 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97819990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 94 (E94G)
Ref Sequence ENSEMBL: ENSMUSP00000113502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029476] [ENSMUST00000122288] [ENSMUST00000130778]
AlphaFold O08547
Predicted Effect possibly damaging
Transcript: ENSMUST00000029476
AA Change: E94G

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029476
Gene: ENSMUSG00000027879
AA Change: E94G

DomainStartEndE-ValueType
Longin 36 118 4.31e-33 SMART
Pfam:Synaptobrevin 131 215 1e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000122288
AA Change: E94G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113502
Gene: ENSMUSG00000027879
AA Change: E94G

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 0.3505 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.4%
Validation Efficiency 97% (58/60)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,584,979 (GRCm39) D865G possibly damaging Het
Acy1 A T 9: 106,313,070 (GRCm39) probably null Het
Adcy4 A T 14: 56,010,104 (GRCm39) probably benign Het
Anpep T G 7: 79,489,047 (GRCm39) D347A probably damaging Het
Arhgap28 C T 17: 68,203,159 (GRCm39) probably null Het
Ccdc32 A G 2: 118,857,610 (GRCm39) probably benign Het
Cdc42bpa A G 1: 179,972,400 (GRCm39) T1401A possibly damaging Het
Celsr2 A G 3: 108,319,939 (GRCm39) Y958H probably damaging Het
Cenpe A G 3: 134,923,066 (GRCm39) E137G probably damaging Het
Chd8 T C 14: 52,450,890 (GRCm39) D1399G probably damaging Het
Cntn3 T C 6: 102,145,908 (GRCm39) T978A possibly damaging Het
Col10a1 A G 10: 34,271,692 (GRCm39) T555A possibly damaging Het
Crybg3 A C 16: 59,385,574 (GRCm39) probably null Het
Cts7 A G 13: 61,503,548 (GRCm39) F139L probably damaging Het
Dera T C 6: 137,773,745 (GRCm39) probably benign Het
Dgka A G 10: 128,559,129 (GRCm39) probably benign Het
Dhrs7 T A 12: 72,699,125 (GRCm39) I286F probably damaging Het
Dtwd2 A G 18: 49,861,424 (GRCm39) probably benign Het
Fermt1 A G 2: 132,748,653 (GRCm39) S657P probably damaging Het
Fhip2b T C 14: 70,825,727 (GRCm39) D351G probably damaging Het
Flnb T C 14: 7,890,810 (GRCm38) V564A probably benign Het
Garnl3 A G 2: 32,975,919 (GRCm39) F16L probably damaging Het
Gck T C 11: 5,856,691 (GRCm39) R191G probably damaging Het
Gucy1b1 A T 3: 81,952,941 (GRCm39) probably benign Het
Ifna2 A C 4: 88,601,895 (GRCm39) L41R probably damaging Het
Krt33a T G 11: 99,903,541 (GRCm39) E197A probably damaging Het
Lce1e G A 3: 92,615,063 (GRCm39) R95C unknown Het
Lct G T 1: 128,235,971 (GRCm39) S345R probably benign Het
Lrp2 A T 2: 69,281,724 (GRCm39) N3882K probably benign Het
Mcc G T 18: 44,578,927 (GRCm39) T652K possibly damaging Het
Mier1 A G 4: 102,996,699 (GRCm39) S109G probably benign Het
Nfat5 A G 8: 108,082,237 (GRCm39) N469S probably damaging Het
Or1e23 C A 11: 73,407,670 (GRCm39) M118I possibly damaging Het
Or6c214 G A 10: 129,591,271 (GRCm39) T16I probably damaging Het
Piwil1 G T 5: 128,820,371 (GRCm39) R256M probably null Het
Rgma T C 7: 73,059,160 (GRCm39) V88A probably damaging Het
Sdk2 T C 11: 113,685,746 (GRCm39) probably null Het
Snrnp70 T C 7: 45,036,669 (GRCm39) R131G possibly damaging Het
Spata31d1a A G 13: 59,848,199 (GRCm39) S1310P possibly damaging Het
Spint1 A G 2: 119,076,948 (GRCm39) E344G probably damaging Het
Srrm1 G A 4: 135,052,302 (GRCm39) Q141* probably null Het
Tecta A T 9: 42,295,637 (GRCm39) L286Q probably damaging Het
Tep1 T A 14: 51,104,301 (GRCm39) K198* probably null Het
Tk2 A G 8: 104,957,824 (GRCm39) V174A probably benign Het
Txndc5 T C 13: 38,691,872 (GRCm39) K165E probably damaging Het
Ubr4 G A 4: 139,151,217 (GRCm39) R1884Q probably damaging Het
Vmn2r61 T C 7: 41,949,844 (GRCm39) Y755H probably damaging Het
Xrn1 T A 9: 95,855,592 (GRCm39) H296Q probably damaging Het
Zar1l A T 5: 150,436,407 (GRCm39) V223D 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
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
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'- AGTGCTGAAAGTCAGCTTCAACCTG -3'
(R):5'- CCTGTGCAAATACGTGCCTGCTAC -3'

Sequencing Primer
(F):5'- CTTCAACCTGAAGCACTATTACC -3'
(R):5'- CCTGTGACAGTCTACAGATTGG -3'
Posted On 2013-07-30