Incidental Mutation 'IGL02730:Sec22a'
ID 305433
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sec22a
Ensembl Gene ENSMUSG00000034473
Gene Name SEC22 homolog A, vesicle trafficking protein
Synonyms 1810005C06Rik, Sec22l2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.404) question?
Stock # IGL02730
Quality Score
Status
Chromosome 16
Chromosomal Location 35131505-35184222 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35134470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 282 (D282G)
Ref Sequence ENSEMBL: ENSMUSP00000156164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043521] [ENSMUST00000154064] [ENSMUST00000232420]
AlphaFold Q8BH47
Predicted Effect probably damaging
Transcript: ENSMUST00000043521
AA Change: D304G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039568
Gene: ENSMUSG00000034473
AA Change: D304G

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: D282G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C A 5: 114,304,210 (GRCm39) probably benign Het
Ankib1 A T 5: 3,752,995 (GRCm39) V651E probably damaging Het
BC051665 G A 13: 60,932,826 (GRCm39) probably benign Het
Ces1d C T 8: 93,912,644 (GRCm39) G265S probably benign Het
Dsg1c A C 18: 20,407,887 (GRCm39) D411A probably damaging Het
Exosc5 T C 7: 25,362,622 (GRCm39) I70T possibly damaging Het
Fgf20 T A 8: 40,732,828 (GRCm39) L203F probably damaging Het
Gpsm1 T A 2: 26,215,390 (GRCm39) V316E probably benign Het
Gtpbp1 T A 15: 79,603,372 (GRCm39) D620E probably benign Het
Hs6st1 A G 1: 36,142,709 (GRCm39) T215A probably damaging Het
Irgm2 T A 11: 58,110,816 (GRCm39) M169K probably benign Het
Kcns3 A G 12: 11,142,076 (GRCm39) S208P probably benign Het
Klra6 T C 6: 129,999,660 (GRCm39) T103A probably benign Het
Lrba T A 3: 86,235,506 (GRCm39) M870K probably damaging Het
Mapk1ip1l C T 14: 47,548,377 (GRCm39) T175I possibly damaging Het
Meig1 A G 2: 3,412,947 (GRCm39) Y25H probably damaging Het
Msh2 T C 17: 88,014,643 (GRCm39) F474L probably damaging Het
Nlrp4b T C 7: 10,448,685 (GRCm39) F296S probably damaging Het
Or10d1b C T 9: 39,613,534 (GRCm39) C177Y probably damaging Het
Or12d17 T A 17: 37,777,750 (GRCm39) Y218N probably damaging Het
Or14c40 T C 7: 86,313,275 (GRCm39) L135P probably damaging Het
Or2m12 T A 16: 19,105,432 (GRCm39) L20F probably benign Het
Or5al6 C T 2: 85,976,443 (GRCm39) V212M probably benign Het
Or5w15 T A 2: 87,567,985 (GRCm39) I228F probably damaging Het
Or6z3 T C 7: 6,464,123 (GRCm39) I205T possibly damaging Het
Or8s8 A G 15: 98,354,317 (GRCm39) N42S probably damaging Het
Pds5b A G 5: 150,704,217 (GRCm39) probably benign Het
Plekhg1 A G 10: 3,823,242 (GRCm39) D70G possibly damaging Het
Rubcnl C T 14: 75,287,588 (GRCm39) T624M probably damaging Het
Runx1t1 C T 4: 13,860,019 (GRCm39) H317Y probably benign Het
Serpina3a T C 12: 104,085,922 (GRCm39) F126L probably damaging Het
Serpinc1 A G 1: 160,827,598 (GRCm39) D399G probably damaging Het
Sorcs2 A G 5: 36,219,896 (GRCm39) Y383H probably benign Het
Speer3 T A 5: 13,843,285 (GRCm39) M64K probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stx1b C A 7: 127,414,549 (GRCm39) R25L probably benign Het
Syt5 A G 7: 4,545,356 (GRCm39) V181A probably damaging Het
Tspoap1 G T 11: 87,672,535 (GRCm39) V1788F probably damaging Het
Vinac1 T C 2: 128,880,646 (GRCm39) T427A possibly damaging Het
Vmn1r233 A G 17: 21,214,057 (GRCm39) S298P possibly damaging Het
Xntrpc T C 7: 101,731,319 (GRCm39) S353P probably damaging Het
Other mutations in Sec22a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R2200:Sec22a UTSW 16 35,134,527 (GRCm39) missense probably damaging 0.97
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
Posted On 2015-04-16