Incidental Mutation 'R2200:Sec22a'
ID 238625
Institutional Source Beutler Lab
Gene Symbol Sec22a
Ensembl Gene ENSMUSG00000034473
Gene Name SEC22 homolog A, vesicle trafficking protein
Synonyms 1810005C06Rik, Sec22l2
MMRRC Submission 040202-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.345) question?
Stock # R2200 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 35131505-35184222 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35134527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 285 (V285E)
Ref Sequence ENSEMBL: ENSMUSP00000039568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043521] [ENSMUST00000154064] [ENSMUST00000232420]
AlphaFold Q8BH47
Predicted Effect probably damaging
Transcript: ENSMUST00000043521
AA Change: V285E

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039568
Gene: ENSMUSG00000034473
AA Change: V285E

DomainStartEndE-ValueType
Longin 36 118 3.01e-23 SMART
transmembrane domain 188 210 N/A INTRINSIC
transmembrane domain 225 247 N/A INTRINSIC
transmembrane domain 254 271 N/A INTRINSIC
transmembrane domain 276 295 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154064
Predicted Effect probably damaging
Transcript: ENSMUST00000232420
AA Change: V263E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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 belongs to the member of the SEC22 family of vesicle trafficking proteins. This protein has similarity to rat SEC22 and may act in the early stages of the secretory pathway. [provided by RefSeq, Nov 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer1 T C 17: 57,265,423 (GRCm39) I135M probably benign Het
Ano7 A G 1: 93,308,158 (GRCm39) E63G possibly damaging Het
Asah1 A G 8: 41,796,765 (GRCm39) probably null Het
B3gat2 C T 1: 23,801,873 (GRCm39) P53L probably benign Het
Bmp8b A T 4: 123,016,815 (GRCm39) M339L possibly damaging Het
Bpifb9b C A 2: 154,155,574 (GRCm39) Q358K probably benign Het
Cbs T C 17: 31,843,238 (GRCm39) D231G probably damaging Het
Chd6 A G 2: 160,825,673 (GRCm39) Y1144H probably damaging Het
Clca3a2 T A 3: 144,519,685 (GRCm39) I230L probably benign Het
Clec2d A T 6: 129,161,831 (GRCm39) T155S possibly damaging Het
Cpxm1 G T 2: 130,235,117 (GRCm39) F567L probably damaging Het
Cyp4f16 G T 17: 32,756,078 (GRCm39) A36S probably damaging Het
Dnah17 T C 11: 117,993,235 (GRCm39) probably benign Het
Eml5 T C 12: 98,791,676 (GRCm39) D1280G probably damaging Het
Ergic1 C A 17: 26,860,566 (GRCm39) A218D possibly damaging Het
Eva1a A G 6: 82,068,894 (GRCm39) R74G probably benign Het
Fhip1a A G 3: 85,637,628 (GRCm39) S224P probably damaging Het
Fus T A 7: 127,576,400 (GRCm39) N273K probably damaging Het
Ipo13 A C 4: 117,762,100 (GRCm39) probably null Het
Itgb3 T A 11: 104,531,812 (GRCm39) probably null Het
Lrif1 T A 3: 106,641,874 (GRCm39) S63R probably damaging Het
Lrig3 A G 10: 125,832,478 (GRCm39) probably null Het
Lrp1b A T 2: 41,174,177 (GRCm39) N1547K probably benign Het
Mme A T 3: 63,287,713 (GRCm39) N738I possibly damaging Het
Morc2a A G 11: 3,633,919 (GRCm39) N677S probably benign Het
Mrpl35 A C 6: 71,794,723 (GRCm39) L82V probably benign Het
Mybpc1 A T 10: 88,391,557 (GRCm39) N313K probably damaging Het
Podn T C 4: 107,879,787 (GRCm39) D66G probably damaging Het
Ptpru A T 4: 131,548,124 (GRCm39) N52K probably damaging Het
Pyroxd1 G T 6: 142,304,808 (GRCm39) R345L probably benign Het
Qser1 A G 2: 104,619,358 (GRCm39) S485P probably damaging Het
Rbm46 A T 3: 82,771,351 (GRCm39) D421E probably benign Het
Rgs10 T C 7: 127,990,761 (GRCm39) E109G probably damaging Het
Samd8 C T 14: 21,825,388 (GRCm39) P178S probably benign Het
Scaf11 T C 15: 96,318,404 (GRCm39) K387E probably damaging Het
Sccpdh G T 1: 179,498,171 (GRCm39) V72F possibly damaging Het
Slc19a3 A G 1: 83,000,664 (GRCm39) S118P probably damaging Het
Sun1 C A 5: 139,216,974 (GRCm39) R338S probably benign Het
Taf1c A G 8: 120,325,417 (GRCm39) F815S probably benign Het
Zcchc14 A T 8: 122,332,167 (GRCm39) probably benign Het
Other mutations in Sec22a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02730:Sec22a APN 16 35,134,470 (GRCm39) missense probably damaging 1.00
IGL03249:Sec22a APN 16 35,168,133 (GRCm39) missense probably damaging 1.00
Quills UTSW 16 35,181,926 (GRCm39) splice site probably null
R0681:Sec22a UTSW 16 35,181,926 (GRCm39) splice site probably null
R1568:Sec22a UTSW 16 35,167,998 (GRCm39) missense probably benign 0.17
R1634:Sec22a UTSW 16 35,139,243 (GRCm39) intron probably benign
R1863:Sec22a UTSW 16 35,168,088 (GRCm39) missense probably damaging 1.00
R4114:Sec22a UTSW 16 35,139,202 (GRCm39) missense probably damaging 1.00
R4115:Sec22a UTSW 16 35,139,202 (GRCm39) missense probably damaging 1.00
R4116:Sec22a UTSW 16 35,139,202 (GRCm39) missense probably damaging 1.00
R5086:Sec22a UTSW 16 35,168,112 (GRCm39) nonsense probably null
R5986:Sec22a UTSW 16 35,134,461 (GRCm39) missense probably damaging 1.00
R7042:Sec22a UTSW 16 35,149,885 (GRCm39) missense probably benign 0.23
R7623:Sec22a UTSW 16 35,149,894 (GRCm39) missense probably benign 0.18
R7878:Sec22a UTSW 16 35,168,005 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACACGCTCACAGGCTGATTTG -3'
(R):5'- TCCTGTAACCTAACCAACTCTG -3'

Sequencing Primer
(F):5'- CGCTCACAGGCTGATTTGTAAAAC -3'
(R):5'- GGCTTAATCTGTCTGTGC -3'
Posted On 2014-10-02