Incidental Mutation 'IGL02871:Sec24c'
ID 362576
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sec24c
Ensembl Gene ENSMUSG00000039367
Gene Name Sec24 related gene family, member C (S. cerevisiae)
Synonyms 2610204K03Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02871
Quality Score
Status
Chromosome 14
Chromosomal Location 20674308-20694852 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20692882 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 935 (S935P)
Ref Sequence ENSEMBL: ENSMUSP00000153434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048016] [ENSMUST00000048657] [ENSMUST00000223751] [ENSMUST00000224791]
AlphaFold G3X972
Predicted Effect probably benign
Transcript: ENSMUST00000048016
SMART Domains Protein: ENSMUSP00000040370
Gene: ENSMUSG00000039357

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Glyco_tran_10_N 70 178 2.6e-12 PFAM
Pfam:Glyco_transf_10 204 403 2.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000048657
AA Change: S1011P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045955
Gene: ENSMUSG00000039367
AA Change: S1011P

DomainStartEndE-ValueType
low complexity region 28 47 N/A INTRINSIC
low complexity region 60 74 N/A INTRINSIC
low complexity region 183 194 N/A INTRINSIC
low complexity region 201 212 N/A INTRINSIC
low complexity region 256 279 N/A INTRINSIC
low complexity region 311 326 N/A INTRINSIC
Pfam:zf-Sec23_Sec24 424 462 8.2e-17 PFAM
Pfam:Sec23_trunk 501 745 7.3e-94 PFAM
Pfam:Sec23_BS 750 834 8e-20 PFAM
Pfam:Sec23_helical 847 948 2.3e-30 PFAM
Pfam:Gelsolin 963 1038 1.3e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180987
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183515
Predicted Effect probably benign
Transcript: ENSMUST00000223751
AA Change: S935P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224722
Predicted Effect probably benign
Transcript: ENSMUST00000224791
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224793
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225566
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225903
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 is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The product of this gene may play a role in shaping the vesicle, as well as in cargo selection and concentration. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display complete embryonic lethality between implantation and placentation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl15 C A 13: 114,154,838 H179Q probably benign Het
Bin3 T A 14: 70,128,905 C72* probably null Het
Brca2 C T 5: 150,542,552 T1927I probably benign Het
Cap2 A G 13: 46,525,492 D26G probably benign Het
Casz1 T G 4: 148,944,319 S1074A possibly damaging Het
Chd5 C T 4: 152,376,685 P1244L probably damaging Het
Exosc9 A G 3: 36,565,281 N408S probably benign Het
Ezr G A 17: 6,742,390 Q352* probably null Het
Fbxl4 T A 4: 22,386,213 D273E probably benign Het
Gm3269 A T 14: 4,841,042 N193I probably damaging Het
Haus8 A T 8: 71,256,494 M90K probably benign Het
Igkv5-39 A T 6: 69,900,506 S89T probably benign Het
Nlrp4b A C 7: 10,715,265 D465A probably benign Het
Nsf A G 11: 103,862,056 probably benign Het
Nt5c1b G A 12: 10,381,325 M409I probably damaging Het
Olfr1195 T A 2: 88,683,084 Y216F probably damaging Het
Olfr1248 T C 2: 89,618,160 I11V probably benign Het
Olfr199 T A 16: 59,216,374 K80* probably null Het
Pga5 T C 19: 10,671,780 probably benign Het
Pigk T A 3: 152,766,516 I355K probably damaging Het
Prom1 T C 5: 44,029,676 Y404C probably damaging Het
Ptprs T C 17: 56,447,443 E199G probably damaging Het
Slc22a13 T C 9: 119,196,011 T200A probably benign Het
Svep1 T A 4: 58,100,871 I1264L probably benign Het
Tcf7l2 T A 19: 55,918,997 C349S probably damaging Het
Thbs2 T C 17: 14,685,786 H284R probably benign Het
Vmn2r19 C T 6: 123,336,083 S704L probably damaging Het
Vmn2r50 A G 7: 10,047,787 Y344H possibly damaging Het
Other mutations in Sec24c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Sec24c APN 14 20693203 missense probably benign 0.03
IGL00574:Sec24c APN 14 20692395 missense probably damaging 0.99
IGL01514:Sec24c APN 14 20682771 missense possibly damaging 0.78
IGL01924:Sec24c APN 14 20689689 missense probably damaging 0.96
IGL02094:Sec24c APN 14 20688402 missense probably damaging 1.00
IGL02677:Sec24c APN 14 20689642 missense probably damaging 0.98
Kahuna UTSW 14 20690773 missense probably damaging 0.99
R0010:Sec24c UTSW 14 20689261 unclassified probably benign
R0335:Sec24c UTSW 14 20688715 splice site probably null
R0487:Sec24c UTSW 14 20683399 missense probably benign 0.01
R0609:Sec24c UTSW 14 20686948 missense probably damaging 1.00
R0626:Sec24c UTSW 14 20688437 missense probably damaging 1.00
R0734:Sec24c UTSW 14 20693745 missense probably damaging 1.00
R0854:Sec24c UTSW 14 20689340 missense probably damaging 1.00
R1036:Sec24c UTSW 14 20692897 missense probably benign 0.14
R1405:Sec24c UTSW 14 20692525 splice site probably null
R1405:Sec24c UTSW 14 20692525 splice site probably null
R1702:Sec24c UTSW 14 20686573 missense probably null
R1765:Sec24c UTSW 14 20688854 unclassified probably benign
R1913:Sec24c UTSW 14 20689111 missense probably benign 0.06
R1920:Sec24c UTSW 14 20686887 missense probably damaging 0.99
R2084:Sec24c UTSW 14 20691279 missense probably benign 0.00
R3778:Sec24c UTSW 14 20683307 missense possibly damaging 0.63
R4383:Sec24c UTSW 14 20690773 missense probably damaging 0.99
R4385:Sec24c UTSW 14 20690773 missense probably damaging 0.99
R4659:Sec24c UTSW 14 20683144 missense probably damaging 0.99
R4798:Sec24c UTSW 14 20693712 missense probably damaging 1.00
R4872:Sec24c UTSW 14 20693745 missense probably damaging 1.00
R5210:Sec24c UTSW 14 20691804 missense probably damaging 1.00
R5345:Sec24c UTSW 14 20693220 missense probably benign 0.00
R5610:Sec24c UTSW 14 20691825 missense probably damaging 1.00
R5614:Sec24c UTSW 14 20682738 missense possibly damaging 0.92
R5646:Sec24c UTSW 14 20679573 missense probably benign 0.01
R6460:Sec24c UTSW 14 20690800 missense probably damaging 1.00
R7181:Sec24c UTSW 14 20689333 missense probably damaging 1.00
R8228:Sec24c UTSW 14 20689907 missense probably benign 0.05
R8512:Sec24c UTSW 14 20690852 missense possibly damaging 0.67
R8679:Sec24c UTSW 14 20692859 missense possibly damaging 0.89
R9340:Sec24c UTSW 14 20679530 missense probably benign 0.00
RF010:Sec24c UTSW 14 20688715 splice site probably null
Posted On 2015-12-18