Incidental Mutation 'R9529:Sec22c'
ID 719398
Institutional Source Beutler Lab
Gene Symbol Sec22c
Ensembl Gene ENSMUSG00000061536
Gene Name SEC22 homolog C, vesicle trafficking protein
Synonyms 5930407I15Rik, Sec22l3
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R9529 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 121509111-121534556 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121513860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 259 (I259N)
Ref Sequence ENSEMBL: ENSMUSP00000077628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078547] [ENSMUST00000111560] [ENSMUST00000139193] [ENSMUST00000215056]
AlphaFold Q8BXT9
Predicted Effect probably damaging
Transcript: ENSMUST00000078547
AA Change: I259N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077628
Gene: ENSMUSG00000061536
AA Change: I259N

DomainStartEndE-ValueType
Longin 36 118 1.87e-19 SMART
transmembrane domain 187 209 N/A INTRINSIC
transmembrane domain 224 243 N/A INTRINSIC
transmembrane domain 250 269 N/A INTRINSIC
transmembrane domain 273 290 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111560
AA Change: I259N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107185
Gene: ENSMUSG00000061536
AA Change: I259N

DomainStartEndE-ValueType
Longin 36 118 1.87e-19 SMART
transmembrane domain 187 209 N/A INTRINSIC
transmembrane domain 224 243 N/A INTRINSIC
transmembrane domain 250 269 N/A INTRINSIC
transmembrane domain 273 290 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139193
SMART Domains Protein: ENSMUSP00000114270
Gene: ENSMUSG00000061536

DomainStartEndE-ValueType
SCOP:d1ifqa_ 4 60 5e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000215056
AA Change: H180Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SEC22 family of vesicle trafficking proteins. The encoded protein is localized to the endoplasmic reticulum and may play a role in the early stages of ER-Golgi protein trafficking. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik A C 5: 113,331,682 (GRCm39) L844R possibly damaging Het
Aadacl4fm2 A G 4: 144,282,082 (GRCm39) Y237H probably benign Het
Abca8a A T 11: 109,947,167 (GRCm39) Y1036* probably null Het
Abcg3 T C 5: 105,121,973 (GRCm39) T135A probably damaging Het
Arhgef28 G A 13: 98,213,773 (GRCm39) A30V probably damaging Het
Cald1 T A 6: 34,662,947 (GRCm39) D3E probably damaging Het
Ccdc89 T A 7: 90,076,573 (GRCm39) L261Q probably damaging Het
Ceacam1 T C 7: 25,171,231 (GRCm39) D411G possibly damaging Het
Chil4 T A 3: 106,118,656 (GRCm39) N87Y probably damaging Het
Ciita T A 16: 10,328,640 (GRCm39) L308Q probably benign Het
Clptm1 T C 7: 19,371,600 (GRCm39) I278V probably benign Het
Col5a3 A T 9: 20,685,308 (GRCm39) probably null Het
Ddost T A 4: 138,038,780 (GRCm39) D336E probably benign Het
Dnah7a T C 1: 53,561,495 (GRCm39) Y2054C probably damaging Het
Erc2 T A 14: 28,197,723 (GRCm39) L1000H unknown Het
Fhip2b T C 14: 70,822,579 (GRCm39) E714G probably damaging Het
Gdpd4 T C 7: 97,610,793 (GRCm39) V71A possibly damaging Het
Hmcn1 A G 1: 150,545,175 (GRCm39) Y2811H probably damaging Het
Hmox2 C T 16: 4,582,818 (GRCm39) Q184* probably null Het
Igkv9-124 G T 6: 67,919,280 (GRCm39) T44N probably benign Het
Kmt2d G A 15: 98,737,649 (GRCm39) T5149I unknown Het
Lamb2 T A 9: 108,363,477 (GRCm39) D885E probably benign Het
Macf1 A G 4: 123,407,680 (GRCm39) S220P probably damaging Het
Muc2 A T 7: 141,287,453 (GRCm39) T211S possibly damaging Het
Mup13 A T 4: 61,184,117 (GRCm39) C15S possibly damaging Het
Myh3 T C 11: 66,979,556 (GRCm39) probably null Het
Nek10 A G 14: 14,850,833 (GRCm38) I293V probably benign Het
Or10d3 G A 9: 39,461,723 (GRCm39) T148I probably benign Het
Or2a52 T A 6: 43,144,432 (GRCm39) S147T possibly damaging Het
Or6c68 A G 10: 129,158,205 (GRCm39) T238A probably damaging Het
Pdss2 G A 10: 43,269,990 (GRCm39) V278I probably benign Het
Prex1 T C 2: 166,431,518 (GRCm39) K748R probably damaging Het
Ptprb A G 10: 116,174,519 (GRCm39) probably null Het
Ranbp17 G A 11: 33,424,826 (GRCm39) S510L unknown Het
Rp1 T A 1: 4,416,447 (GRCm39) H1555L probably benign Het
Rsph6a A G 7: 18,799,535 (GRCm39) K389E probably benign Het
Ryk T C 9: 102,746,518 (GRCm39) V151A probably benign Het
Ryr3 T A 2: 112,465,660 (GRCm39) N4838I possibly damaging Het
Sbno1 G A 5: 124,517,413 (GRCm39) R1233* probably null Het
Scn2a A T 2: 65,594,932 (GRCm39) K1927M probably damaging Het
Slc6a15 A T 10: 103,240,583 (GRCm39) D402V probably benign Het
Stk38 G A 17: 29,207,210 (GRCm39) T111I probably damaging Het
Tmem237 G A 1: 59,147,215 (GRCm39) T306I probably damaging Het
Tmprss11a T C 5: 86,576,501 (GRCm39) K117E probably benign Het
Tmprss9 A T 10: 80,730,640 (GRCm39) D722V probably damaging Het
Trpc1 T C 9: 95,592,250 (GRCm39) Y575C probably damaging Het
Ube2d2b A G 5: 107,978,438 (GRCm39) M30V probably benign Het
Usp36 A T 11: 118,159,461 (GRCm39) L661* probably null Het
Vmn2r13 G T 5: 109,304,064 (GRCm39) T789N probably damaging Het
Vmn2r5 T C 3: 64,400,018 (GRCm39) T550A probably benign Het
Xirp2 T C 2: 67,355,540 (GRCm39) S3434P possibly damaging Het
Zfp106 A G 2: 120,351,007 (GRCm39) V1571A probably damaging Het
Zfp438 A G 18: 5,213,501 (GRCm39) S486P possibly damaging Het
Zfp616 A G 11: 73,975,660 (GRCm39) H643R probably damaging Het
Zfp616 A G 11: 73,976,596 (GRCm39) K955R possibly damaging Het
Other mutations in Sec22c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02152:Sec22c APN 9 121,513,845 (GRCm39) missense probably benign 0.00
IGL02563:Sec22c APN 9 121,513,716 (GRCm39) utr 3 prime probably benign
IGL02582:Sec22c APN 9 121,514,630 (GRCm39) missense probably benign 0.07
IGL03333:Sec22c APN 9 121,517,284 (GRCm39) missense probably damaging 1.00
R0071:Sec22c UTSW 9 121,521,979 (GRCm39) missense probably damaging 1.00
R0071:Sec22c UTSW 9 121,521,979 (GRCm39) missense probably damaging 1.00
R1972:Sec22c UTSW 9 121,517,320 (GRCm39) missense possibly damaging 0.88
R4604:Sec22c UTSW 9 121,524,708 (GRCm39) missense probably damaging 1.00
R5913:Sec22c UTSW 9 121,519,368 (GRCm39) missense possibly damaging 0.85
R8354:Sec22c UTSW 9 121,524,721 (GRCm39) missense probably damaging 1.00
R8454:Sec22c UTSW 9 121,524,721 (GRCm39) missense probably damaging 1.00
R8832:Sec22c UTSW 9 121,514,638 (GRCm39) missense probably benign 0.33
R9149:Sec22c UTSW 9 121,524,750 (GRCm39) missense probably damaging 1.00
R9293:Sec22c UTSW 9 121,517,314 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AAAGGCGCCATCTACTGCAG -3'
(R):5'- TGCATGCAGGTGTCAGTTAATAAG -3'

Sequencing Primer
(F):5'- ACTGCAGGATGCCCTCATC -3'
(R):5'- TGCATGCAGCTGTCAGTAAG -3'
Posted On 2022-07-18