Incidental Mutation 'R5913:Sec22c'
ID 461127
Institutional Source Beutler Lab
Gene Symbol Sec22c
Ensembl Gene ENSMUSG00000061536
Gene Name SEC22 homolog C, vesicle trafficking protein
Synonyms 5930407I15Rik, Sec22l3
MMRRC Submission 044110-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R5913 (G1)
Quality Score 211
Status Validated
Chromosome 9
Chromosomal Location 121509111-121534556 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121519368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 83 (S83P)
Ref Sequence ENSEMBL: ENSMUSP00000149594 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078547] [ENSMUST00000111560] [ENSMUST00000139193] [ENSMUST00000215056]
AlphaFold Q8BXT9
Predicted Effect probably benign
Transcript: ENSMUST00000078547
AA Change: S154P

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000077628
Gene: ENSMUSG00000061536
AA Change: S154P

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: ENSMUST00000111560
AA Change: S154P

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107185
Gene: ENSMUSG00000061536
AA Change: S154P

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 noncoding transcript
Transcript: ENSMUST00000132733
Predicted Effect probably benign
Transcript: ENSMUST00000139193
SMART Domains Protein: ENSMUSP00000114270
Gene: ENSMUSG00000061536

DomainStartEndE-ValueType
SCOP:d1ifqa_ 4 60 5e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000215056
AA Change: S83P

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.3%
Validation Efficiency 97% (75/77)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2cl A T 9: 110,718,773 (GRCm39) probably null Het
Arhgef19 A T 4: 140,976,609 (GRCm39) H457L probably benign Het
Armc3 A G 2: 19,314,858 (GRCm39) Y856C possibly damaging Het
Bdp1 A T 13: 100,187,612 (GRCm39) V1585D probably benign Het
Bhlhe40 T G 6: 108,642,154 (GRCm39) M366R possibly damaging Het
Bora C T 14: 99,305,948 (GRCm39) S439L probably benign Het
Cacnb4 G A 2: 52,324,796 (GRCm39) probably benign Het
Carm1 T C 9: 21,498,848 (GRCm39) S529P probably benign Het
Cd200r1 A G 16: 44,610,034 (GRCm39) I84M possibly damaging Het
Cd209a A G 8: 3,798,742 (GRCm39) S22P probably benign Het
Celf2 A T 2: 7,085,969 (GRCm39) M1K probably null Het
Cep112 A G 11: 108,648,514 (GRCm39) T783A probably damaging Het
Cep95 T C 11: 106,709,335 (GRCm39) probably benign Het
Clip4 G A 17: 72,131,760 (GRCm39) R366K probably benign Het
Csmd2 A G 4: 128,445,781 (GRCm39) K3284E probably benign Het
Csn3 T A 5: 88,075,470 (GRCm39) L12Q probably damaging Het
Ctdnep1 T C 11: 69,879,691 (GRCm39) L39P probably damaging Het
Cxcl17 C T 7: 25,101,671 (GRCm39) W55* probably null Het
Cyp2u1 G A 3: 131,096,860 (GRCm39) probably benign Het
Dmgdh A T 13: 93,888,831 (GRCm39) E823V possibly damaging Het
Dnah2 T C 11: 69,339,256 (GRCm39) I3078V probably damaging Het
Dpp10 A C 1: 123,312,018 (GRCm39) Y446D probably damaging Het
Eif2s3y T C Y: 1,017,365 (GRCm39) V290A probably benign Homo
Fktn G A 4: 53,735,035 (GRCm39) W224* probably null Het
Gm37240 T C 3: 84,874,905 (GRCm39) probably benign Het
Gpr3 A G 4: 132,938,489 (GRCm39) V61A probably damaging Het
Gulo T C 14: 66,237,470 (GRCm39) probably null Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hectd4 T A 5: 121,462,037 (GRCm39) I968K possibly damaging Het
Hmox2 G T 16: 4,582,732 (GRCm39) R155L probably damaging Het
Ifnlr1 C A 4: 135,432,580 (GRCm39) Q339K probably damaging Het
Ifnlr1 A T 4: 135,432,581 (GRCm39) Q339L probably damaging Het
Irf4 T A 13: 30,941,741 (GRCm39) S365T probably benign Het
Klrb1a T G 6: 128,595,472 (GRCm39) D124A probably damaging Het
Macf1 A T 4: 123,369,832 (GRCm39) I78N probably damaging Het
Mctp1 G T 13: 76,907,944 (GRCm39) probably null Het
Muc21 C T 17: 35,934,123 (GRCm39) probably benign Het
Mxra8 A T 4: 155,927,760 (GRCm39) probably null Het
Nlrp2 T A 7: 5,327,902 (GRCm39) probably null Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
P2ry13 T C 3: 59,116,786 (GRCm39) T331A probably benign Het
Padi2 G A 4: 140,644,952 (GRCm39) R62H probably benign Het
Pcdhb15 A T 18: 37,607,707 (GRCm39) Q313L probably benign Het
Pcdhga11 A G 18: 37,889,045 (GRCm39) I18V probably benign Het
Pcdhga11 A G 18: 37,891,142 (GRCm39) R717G probably benign Het
Pcif1 C A 2: 164,726,412 (GRCm39) probably benign Het
Pkd1l1 T C 11: 8,813,849 (GRCm39) T1501A probably benign Het
Plekhg2 C A 7: 28,064,027 (GRCm39) R473L probably damaging Het
Plekhn1 T C 4: 156,307,152 (GRCm39) Y466C probably damaging Het
Sgcz T A 8: 37,993,425 (GRCm39) Q224L possibly damaging Het
Slc27a1 C T 8: 72,036,907 (GRCm39) P381L probably benign Het
Slc8a1 T A 17: 81,955,431 (GRCm39) I536F probably damaging Het
Src T A 2: 157,307,950 (GRCm39) probably null Het
Sybu T A 15: 44,651,017 (GRCm39) T96S probably damaging Het
Tbc1d22a T C 15: 86,235,929 (GRCm39) Y363H probably damaging Het
Tdrd6 T C 17: 43,939,302 (GRCm39) E582G possibly damaging Het
Tmem131 C A 1: 36,858,209 (GRCm39) V713L probably benign Het
Tnfsf13b T A 8: 10,056,988 (GRCm39) L49Q probably damaging Het
Trem2 T A 17: 48,653,661 (GRCm39) probably benign Het
Tspyl3 T A 2: 153,066,636 (GRCm39) M201L probably benign Het
Ttl A G 2: 128,917,961 (GRCm39) D141G probably benign Het
Ube2z A G 11: 95,951,889 (GRCm39) V153A possibly damaging Het
Ubr3 A G 2: 69,851,559 (GRCm39) Y1842C probably damaging Het
Usp33 T C 3: 152,086,229 (GRCm39) V656A probably damaging Het
Vmn2r74 G A 7: 85,601,098 (GRCm39) R847C probably damaging Het
Vmo1 A T 11: 70,405,241 (GRCm39) V63D probably damaging Het
Zcwpw1 T A 5: 137,798,269 (GRCm39) D155E probably benign Het
Zeb1 T G 18: 5,766,765 (GRCm39) S425R 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
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
R9529:Sec22c UTSW 9 121,513,860 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCCTTTACAACAAACCGCCTG -3'
(R):5'- CCTGACCTCCGATAACTGACTC -3'

Sequencing Primer
(F):5'- TGGAAATGGGGCCCATCCAG -3'
(R):5'- CGATAACTGACTCTGTTCGGAATCTG -3'
Posted On 2017-02-28