Incidental Mutation 'IGL01924:Sec24c'
ID 180207
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 # IGL01924
Quality Score
Status
Chromosome 14
Chromosomal Location 20724376-20744920 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20739757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 545 (F545I)
Ref Sequence ENSEMBL: ENSMUSP00000153434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048657] [ENSMUST00000223751] [ENSMUST00000224791]
AlphaFold G3X972
Predicted Effect probably benign
Transcript: ENSMUST00000048657
AA Change: F621I

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000045955
Gene: ENSMUSG00000039367
AA Change: F621I

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 damaging
Transcript: ENSMUST00000223751
AA Change: F545I

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224722
Predicted Effect possibly damaging
Transcript: ENSMUST00000224791
AA Change: F100I

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224793
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225566
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225903
Predicted Effect probably benign
Transcript: ENSMUST00000228545
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C T 5: 114,362,047 (GRCm39) probably benign Het
Adamts13 A G 2: 26,886,595 (GRCm39) E938G possibly damaging Het
Aox1 C T 1: 58,326,902 (GRCm39) T167I possibly damaging Het
Apba3 G T 10: 81,108,907 (GRCm39) A557S probably benign Het
Atad2b T C 12: 5,084,093 (GRCm39) L1382P probably damaging Het
Atrn C T 2: 130,777,485 (GRCm39) T178I probably damaging Het
B4galnt1 A G 10: 127,002,630 (GRCm39) S88G probably benign Het
Baz2b T C 2: 59,765,615 (GRCm39) K887E probably damaging Het
Castor2 T C 5: 134,164,441 (GRCm39) F134S probably benign Het
Ccdc162 A C 10: 41,445,883 (GRCm39) F430V probably damaging Het
Cdc42bpb T A 12: 111,283,887 (GRCm39) probably benign Het
Cfhr4 G A 1: 139,666,944 (GRCm39) L444F probably damaging Het
Chit1 A G 1: 134,077,148 (GRCm39) D317G probably benign Het
Chrnb1 A T 11: 69,685,845 (GRCm39) probably benign Het
Cobl G T 11: 12,204,596 (GRCm39) T620K probably benign Het
Creld1 T C 6: 113,460,921 (GRCm39) F20L probably benign Het
Csmd2 A T 4: 128,453,740 (GRCm39) D3475V unknown Het
Cyp3a57 A G 5: 145,309,439 (GRCm39) D259G probably benign Het
Dbnl A G 11: 5,747,142 (GRCm39) Y224C probably damaging Het
Det1 A T 7: 78,493,571 (GRCm39) C144* probably null Het
Fbxo47 G T 11: 97,746,986 (GRCm39) A360D probably damaging Het
Frrs1 G A 3: 116,678,888 (GRCm39) G237R probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Gria2 T C 3: 80,617,638 (GRCm39) T372A probably benign Het
Hmcn2 A T 2: 31,288,929 (GRCm39) Q2246L probably benign Het
Ide T C 19: 37,249,563 (GRCm39) M930V unknown Het
Kdm5a T C 6: 120,371,216 (GRCm39) probably null Het
Khnyn A G 14: 56,132,426 (GRCm39) T625A probably benign Het
Lrrtm1 T C 6: 77,221,169 (GRCm39) F209L possibly damaging Het
Med13 C A 11: 86,199,522 (GRCm39) probably benign Het
Myom2 A G 8: 15,119,685 (GRCm39) E147G probably benign Het
Myrip T A 9: 120,217,330 (GRCm39) V88D probably damaging Het
Nbeal2 T C 9: 110,460,482 (GRCm39) H1784R probably benign Het
Nlrp4e T A 7: 23,020,255 (GRCm39) C247* probably null Het
Nup54 G A 5: 92,572,294 (GRCm39) P252L probably benign Het
Or51ag1 A G 7: 103,156,003 (GRCm39) I50T possibly damaging Het
Otoa C A 7: 120,705,191 (GRCm39) N244K probably damaging Het
Pbrm1 G A 14: 30,804,561 (GRCm39) R960H probably damaging Het
Ptcd3 A T 6: 71,875,411 (GRCm39) N190K probably damaging Het
Rhobtb1 T A 10: 69,106,134 (GRCm39) L233H probably damaging Het
Slc6a15 T C 10: 103,240,686 (GRCm39) probably null Het
Slitrk1 G A 14: 109,148,671 (GRCm39) A680V probably benign Het
Smpd1 C T 7: 105,204,655 (GRCm39) S178L probably benign Het
Spindoc A G 19: 7,360,042 (GRCm39) L42P probably damaging Het
Tenm4 A G 7: 96,544,419 (GRCm39) E2145G probably damaging Het
Tmem144 G T 3: 79,746,501 (GRCm39) A18E probably damaging Het
Tmem213 A T 6: 38,086,373 (GRCm39) S10C possibly damaging Het
Trav6-3 A T 14: 53,667,800 (GRCm39) I102L probably benign Het
Trip11 T G 12: 101,853,143 (GRCm39) N483T possibly damaging Het
Unc13b C T 4: 43,239,385 (GRCm39) R1056* probably null Het
Wdr27 T G 17: 15,137,488 (GRCm39) K433N probably damaging Het
Wls C A 3: 159,607,080 (GRCm39) S189* probably null Het
Yeats2 A G 16: 20,024,917 (GRCm39) N706D probably damaging Het
Zbp1 A G 2: 173,054,047 (GRCm39) V158A probably benign Het
Zfp595 G T 13: 67,465,847 (GRCm39) H139N 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
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
IGL02871:Sec24c APN 14 20,742,950 (GRCm39) missense probably benign
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 2014-05-07