Incidental Mutation 'IGL02871:Sec24c'
ID 362576
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sec24c
Ensembl Gene ENSMUSG00000039367
Gene Name SEC24 homolog C, COPII coat complex component
Synonyms 2610204K03Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02871
Quality Score
Status
Chromosome 14
Chromosomal Location 20724376-20744920 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20742950 bp (GRCm39)
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 noncoding transcript
Transcript: ENSMUST00000225903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225804
Predicted Effect probably benign
Transcript: ENSMUST00000224791
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225566
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224793
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: 114,291,374 (GRCm39) H179Q probably benign Het
Bin3 T A 14: 70,366,354 (GRCm39) C72* probably null Het
Brca2 C T 5: 150,466,017 (GRCm39) T1927I probably benign Het
Cap2 A G 13: 46,678,968 (GRCm39) D26G probably benign Het
Casz1 T G 4: 149,028,776 (GRCm39) S1074A possibly damaging Het
Chd5 C T 4: 152,461,142 (GRCm39) P1244L probably damaging Het
Exosc9 A G 3: 36,619,430 (GRCm39) N408S probably benign Het
Ezr G A 17: 7,009,789 (GRCm39) Q352* probably null Het
Fbxl4 T A 4: 22,386,213 (GRCm39) D273E probably benign Het
Gm3269 A T 14: 16,028,154 (GRCm39) N193I probably damaging Het
Haus8 A T 8: 71,709,138 (GRCm39) M90K probably benign Het
Igkv5-39 A T 6: 69,877,490 (GRCm39) S89T probably benign Het
Nlrp4b A C 7: 10,449,192 (GRCm39) D465A probably benign Het
Nsf A G 11: 103,752,882 (GRCm39) probably benign Het
Nt5c1b G A 12: 10,431,325 (GRCm39) M409I probably damaging Het
Or4a75 T C 2: 89,448,504 (GRCm39) I11V probably benign Het
Or4c103 T A 2: 88,513,428 (GRCm39) Y216F probably damaging Het
Or5ac17 T A 16: 59,036,737 (GRCm39) K80* probably null Het
Pga5 T C 19: 10,649,144 (GRCm39) probably benign Het
Pigk T A 3: 152,472,153 (GRCm39) I355K probably damaging Het
Prom1 T C 5: 44,187,018 (GRCm39) Y404C probably damaging Het
Ptprs T C 17: 56,754,443 (GRCm39) E199G probably damaging Het
Slc22a13 T C 9: 119,025,077 (GRCm39) T200A probably benign Het
Svep1 T A 4: 58,100,871 (GRCm39) I1264L probably benign Het
Tcf7l2 T A 19: 55,907,429 (GRCm39) C349S probably damaging Het
Thbs2 T C 17: 14,906,048 (GRCm39) H284R probably benign Het
Vmn2r19 C T 6: 123,313,042 (GRCm39) S704L probably damaging Het
Vmn2r50 A G 7: 9,781,714 (GRCm39) Y344H possibly damaging Het
Other mutations in Sec24c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Sec24c APN 14 20,743,271 (GRCm39) missense probably benign 0.03
IGL00574:Sec24c APN 14 20,742,463 (GRCm39) missense probably damaging 0.99
IGL01514:Sec24c APN 14 20,732,839 (GRCm39) missense possibly damaging 0.78
IGL01924:Sec24c APN 14 20,739,757 (GRCm39) missense probably damaging 0.96
IGL02094:Sec24c APN 14 20,738,470 (GRCm39) missense probably damaging 1.00
IGL02677:Sec24c APN 14 20,739,710 (GRCm39) missense probably damaging 0.98
Kahuna UTSW 14 20,740,841 (GRCm39) missense probably damaging 0.99
R0010:Sec24c UTSW 14 20,739,329 (GRCm39) unclassified probably benign
R0335:Sec24c UTSW 14 20,738,783 (GRCm39) splice site probably null
R0487:Sec24c UTSW 14 20,733,467 (GRCm39) missense probably benign 0.01
R0609:Sec24c UTSW 14 20,737,016 (GRCm39) missense probably damaging 1.00
R0626:Sec24c UTSW 14 20,738,505 (GRCm39) missense probably damaging 1.00
R0734:Sec24c UTSW 14 20,743,813 (GRCm39) missense probably damaging 1.00
R0854:Sec24c UTSW 14 20,739,408 (GRCm39) missense probably damaging 1.00
R1036:Sec24c UTSW 14 20,742,965 (GRCm39) missense probably benign 0.14
R1405:Sec24c UTSW 14 20,742,593 (GRCm39) splice site probably null
R1405:Sec24c UTSW 14 20,742,593 (GRCm39) splice site probably null
R1702:Sec24c UTSW 14 20,736,641 (GRCm39) missense probably null
R1765:Sec24c UTSW 14 20,738,922 (GRCm39) unclassified probably benign
R1913:Sec24c UTSW 14 20,739,179 (GRCm39) missense probably benign 0.06
R1920:Sec24c UTSW 14 20,736,955 (GRCm39) missense probably damaging 0.99
R2084:Sec24c UTSW 14 20,741,347 (GRCm39) missense probably benign 0.00
R3778:Sec24c UTSW 14 20,733,375 (GRCm39) missense possibly damaging 0.63
R4383:Sec24c UTSW 14 20,740,841 (GRCm39) missense probably damaging 0.99
R4385:Sec24c UTSW 14 20,740,841 (GRCm39) missense probably damaging 0.99
R4659:Sec24c UTSW 14 20,733,212 (GRCm39) missense probably damaging 0.99
R4798:Sec24c UTSW 14 20,743,780 (GRCm39) missense probably damaging 1.00
R4872:Sec24c UTSW 14 20,743,813 (GRCm39) missense probably damaging 1.00
R5210:Sec24c UTSW 14 20,741,872 (GRCm39) missense probably damaging 1.00
R5345:Sec24c UTSW 14 20,743,288 (GRCm39) missense probably benign 0.00
R5610:Sec24c UTSW 14 20,741,893 (GRCm39) missense probably damaging 1.00
R5614:Sec24c UTSW 14 20,732,806 (GRCm39) missense possibly damaging 0.92
R5646:Sec24c UTSW 14 20,729,641 (GRCm39) missense probably benign 0.01
R6460:Sec24c UTSW 14 20,740,868 (GRCm39) missense probably damaging 1.00
R7181:Sec24c UTSW 14 20,739,401 (GRCm39) missense probably damaging 1.00
R8228:Sec24c UTSW 14 20,739,975 (GRCm39) missense probably benign 0.05
R8512:Sec24c UTSW 14 20,740,920 (GRCm39) missense possibly damaging 0.67
R8679:Sec24c UTSW 14 20,742,927 (GRCm39) missense possibly damaging 0.89
R9340:Sec24c UTSW 14 20,729,598 (GRCm39) missense probably benign 0.00
RF010:Sec24c UTSW 14 20,738,783 (GRCm39) splice site probably null
Posted On 2015-12-18